NCT04687020VILT-502NS Pharma, Inc.INDUSTRYLong-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502)2022-10ACTIVE_NOT_RECRUITINGThe VILT-502 study is Non-interventional Study(United States)/Low-intervention Clinical Trial (Canada) of Viltolarsen administered intravenously once weekly for 10 years to boys with DMD who complete the NS-065/NCNP-01-202 study.INTERVENTIONALInclusion Criteria: 1. Patient, patient's parent or legal guardian have provided written informed consent/medical record release authorization prior to any extension study-specific procedures, and the patient has provided assent appropriate for his age and developmental status. 2. Patient completed the NS-065/NCNP-01-202 study and was judged by the investigator as appropriate to participate in the VILT-502 study. 3. Patient and parent or legal guardian are willing and able to comply with scheduled visits, study treatment administration plan, and study procedures. Exclusion Criteria: 1. Patient has an allergy or hypersensitivity to the study drug or to any of its constituents. 2. Patient has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator. 3. Patient has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and observation will be correctly completed or impair the assessment of study results, in the opinion of the investigator. 4. Patient had a treatment which was made for the purpose of dystrophin or its related protein induction after completing the NS-065/NCNP-01-202 study. 5. Patient took any other investigational drugs after completing the NS-065/NCNP-01-202 study. 6. Patient plans to participate in another clinical trial. 7. Patient was judged by the investigator and/or the Sponsor as not appropriate to participate in the study for reasons other than #1 - #6 above.MALE2024-10-18T00:00:002020-12-162020-12-232022-10-182020-12-292022-10-192021-06-102032-092032-10TrueFalseThe VILT-502 study is Non-interventional Study(United States)/Low-intervention Clinical Trial (Canada) of Viltolarsen administered intravenously once weekly for 10 years to boys with DMD who complete the NS-065/NCNP-01-202 study.Duchenne Muscular DystrophyPHASE49Number of participants with treatment related Adverse Events as assessed by CTCAE v4.0baseline to up to 120 months of treatmentChange in Time to Stand (TTSTAND)baseline to up to 120 months of treatmentChange in Time to Run/Walk 10 meters (TTRW)baseline to up to 120 months of treatmentChange in Performance of Upper Limb (PUL)The Performance of the Upper Limb (PUL) scale is a specifically designed for assessing upper limb function in ambulant and non-ambulant patients with DMD. It consists of 22 items subdivided into shoulder level (6 items), mid-level (9 items) and distal level (7 items) dimension. The item ranges from score 0 -no useful hand function -to score 6 full shoulder abduction.baseline to up to 120 months of treatmentLoss of Ambulation (LOA)Loss of Ambulation (LOA) is defined by the inability to complete the Time to Run/Walk 10 meters (TTRW) in less than 30 seconds.baseline to up to 120 months of treatmentFalseFalseFalseFalseFalse NCT02369731PTC124-GD-025o-DMDPTC TherapeuticsINDUSTRYRegistry of Translarna (Ataluren) in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)2024-10ACTIVE_NOT_RECRUITINGThis study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice.OBSERVATIONALInclusion Criteria: * Receiving or will be receiving usual care treatment with commercial supply of Translarna (or receiving care within a named participant early access program) * Willing to provide written informed consent to allow the study data collection procedures (either by the participant or through authorisation by a legal guardian) Exclusion Criteria: * Participants who are receiving ataluren or placebo in a blinded, randomized clinical trial, or ataluren in any other ataluren clinical trial or cohort early access program that prevents participation in this studyALL2024-10-18T00:00:002015-01-282015-02-172024-10-082015-02-242024-10-092015-04-302025-05-302025-05-30falseThis study is being performed as a post-approval safety study (PASS), per the Pharmacovigilance Risk Assessment Committee (PRAC) of the European Medicines Agency (EMA), to gather data on Translarna (ataluren) safety, effectiveness, and prescription patterns in routine clinical practice.Muscular Dystrophy, Duchenne316Percentage of Participants With Adverse Events5 yearsPrescriber and Participant Compliance With Prescribing Information According to the Approved Labelling5 yearsFalse2FalseFalseFalseFalse NCT03703882CAT-1004-301Catabasis PharmaceuticalsINDUSTRYPhase III Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy2022-06COMPLETEDThe PolarisDMD study is a Phase 3, global study to evaluate the efficacy and safety of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Male patients from 4-7 years of age (up to 8th birthday) will be enrolled. Edasalonexent is an orally administered small molecule that inhibits NF-kB, which is the key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.INTERVENTIONALInclusion Criteria: * Written consent/assent by patient and/or legal guardian as per regional and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements * Diagnosis of DMD based on a clinical phenotype with increased serum creatine kinase (CK) and documentation of mutation(s) in the dystrophin gene known to be associated with a DMD phenotype * Able to perform stand from supine without assistance in ≤ 10 seconds * Able to perform the 10MWT and 4-stair climb * Followed by a doctor or medical professional who coordinates Duchenne care on a regular basis and willingness to disclose patient's study participation with medical professionals Exclusion Criteria: * Use of corticosteroids within 24 weeks prior to Day 1; use of inhaled, intranasal, and topical corticosteroids is permitted * Use of another investigational drug, idebenone, or dystrophin-focused therapy within 4 weeks. Exception: Patients who have received at least 24 weeks of a stable dose of eteplirsen prior to Day 1, and expected to continue treatment, will be eligible * Use of the following within 4 weeks prior to Day 1: immunosuppressive therapy, warfarin, phenytoin, S mephenytoin, cyclosporine, dihydroergotamine, ergotamine, fentanyl, alfentanil, pimozide, quinidine, sirolimus, tacrolimus, or paclitaxel * Use of human growth hormone within 3 months prior to Day 1 * Other prior or ongoing significant medical conditionsMALE2024-10-18T00:00:002018-10-082018-10-092022-06-162018-10-122022-06-212018-10-022020-09-222020-09-22trueTrueFalseThe PolarisDMD study is a Phase 3, global study to evaluate the efficacy and safety of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Male patients from 4-7 years of age (up to 8th birthday) will be enrolled. Edasalonexent is an orally administered small molecule that inhibits NF-kB, which is the key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.Muscular Dystrophy, DuchennePHASE3131Change From Baseline in North Star Ambulatory Assessment (NSAA)To assess change from baseline in North Star Ambulatory Assessment(NSAA) Total Score at Wk52. NSAA is clinician-reported outcome instrument designed to measure ambulatory function in males with Duchenne muscular dystrophy(DMD). Patients asked to perform 17 different functional activities,including 10MWT,rising from sit to stand,standing on one leg,climbing \& descending a step,stand from supine, lifting the head, standing on heels, \& jumping. Each function activity will be scored as0=(unable to achieve independently),scored as1=(modified method but achieves goal independent of physical assistance from another),or scored as2=(no obvious modification of activity)or "Not Scored". If NSAA test was performed \& any of the individual items are scored as "not scored"(i.e, for reasons unrelated to patients physical capabilities), corresponding total score will be set to missing. Sum of 17 scores will be used to form an ordinal total score(range 0-34).Higher scores imply better functional statusBaseline (Day 1) to Week 52Change From Baseline in 10-meter Walk/Run TestTo assess the changes from baseline to Week 52 on the 10-meter walk/run test (10MWT). For timed function tests (TFTs), the time will be set to 12 seconds and the speed to 0 if the TFT assessment meets the following TFT grading criteria. Grade of 1 or 2 (from a 6-point scale). 1=Unable to walk independently 2=Unable to walk independently but can walk with knee-ankle foot orthoses or support from a person 3=Highly adapted wide based lordotic gait. Cannot increase walking speed 4=Moderately adapted gait. Can pick up speed but cannot run 5=Able to pick up speed, but runs with a double stance phase, i.e. cannot achieve both feet off the ground 6=Runs and gets both feet off the ground (with no double stance phase)Baseline (Day 1) to Week 52Change From Baseline in Time to Stand From SupineTo assess the change from baseline in the stand from supine speed at Week 52. For timed function tests (TFTs) , the time will be set to 12 seconds and the speed to 0 if the TFT assessment meets the following TFT grading criteria. Grade of 1 or 2 (from a 6-point scale). 1 = Unable to stand from supine, even with use of a chair, 2 = Assisted Gowers - requires furniture for assist in arising from supine to full upright posture (no time to be recorded) 3=Rolls over, stands up with both hands "climbing up" the legs to achieve full upright posture 4=Rolls over, stands up with 1 hand support on leg 5=Rolls to the side and stands up with one or both hands on the floor to start to rise but does not touch legs 6=Stands up without rolling over or using hands on legs or floorBaseline (Day 1) to Week 52Change From Baseline in 4-stair ClimbTo assess the change from baseline to Week 52 on the 4-Stair Climb. For timed function tests (TFTs) , the time will be set to 12 seconds and the speed to 0 if the TFT assessment meets the following TFT grading criteria. Grade of 1(from a 6-point scale)1=Unable to climb 4 standard stairs(no time recorded) 2=Climbs 4 standard stairs "marking time"(climbs one foot at a time, with both feet on a step before moving to next step), uses both arms on one or both handrails or uses 1 handrail and the other arm pushes on the leg 3=Climbs 4 standard stairs "marking time", using one arm on one handrail or one hand pushing on leg or body 4=Climbs 4 standard stairs "marking time", not needing handrail and not using hands to push on leg 5=Climbs 4 standard stairs alternating feet, needs handrail/s for support or uses arms to push on the leg or body 6=Climbs 4 standard stairs alternating feet, not needing handrail support or using arm to push on the legBaseline (Day 1) to Week 52Safety and Tolerability Measured by Number of Treatment- Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs)Adverse events that occurred from the time of the administration of the first dose of investigational product (IP) through the end of the safety follow-up were considered treatment-emergent AEs (TEAEs). Serious adverse event (SAE).Up to Week 52False47FalseFalseFalseFalse NCT0261482002C701Istituto Auxologico ItalianoOTHEREffects of Low-level Mechanical Vibration on Bone Density in Ambulant Children Affected by Duchenne Muscular Dystrophy2022-03COMPLETEDDuchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle degeneration and substitution with fat and connective tissue. The progressive muscle degeneration leads to loss of autonomous walking before the age of 15 years and death for cardiac and/or respiratory failure. There are no specific treatment for DMD, and the standard of care is now based on long-term corticosteroid (CS) use. The studies on bone mass in DMD are very few, but they agree in reporting the presence of a reduced bone mass and an increased rate of fractures probably due to long-term steroid therapy and disuse-osteopenia. The aim of this study, involving 20 ambulant DMD boys (age 7-10 years) has been the evaluation of the effects of low-level mechanical vibrations on bone in a group of ambulant DMD children for 1 year, with RDA-adjusted dietary calcium intake and 25OH vitamin D supplementation.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD * Ability to stand up and walk (some balance assistance allowed, but full weight-bearing necessary) * All the children must already be on glucocorticoid therapy for at least 6 months before the start of the study. Exclusion Criteria: * Presence of other diseases interfering with bone density and bone turnover * The inability to regularly use the vibratory platform.MALE2024-10-18T00:00:002022-02-182022-03-102022-03-102022-03-162022-03-162006-112007-052007-11falseFalseDuchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle degeneration and substitution with fat and connective tissue. The progressive muscle degeneration leads to loss of autonomous walking before the age of 15 years and death for cardiac and/or respiratory failure. There are no specific treatment for DMD, and the standard of care is now based on long-term corticosteroid (CS) use. The studies on bone mass in DMD are very few, but they agree in reporting the presence of a reduced bone mass and an increased rate of fractures probably due to long-term steroid therapy and disuse-osteopenia. The aim of this study, involving 20 ambulant DMD boys (age 7-10 years) has been the evaluation of the effects of low-level mechanical vibrations on bone in a group of ambulant DMD children for 1 year, with RDA-adjusted dietary calcium intake and 25OH vitamin D supplementation.Osteoporosis;Duchenne Muscular DystrophyNA20Change in bone mineral density at lumbar spine.Bone mineral density evaluated by DXA. Bone mineral apparent density calculated to correct for bone size (growing subjects). Z-score calculated. Measurements: baseline and 12 months.baseline and 12th monthCalciumchanges in serum calcium (mg/dL)baseline and 12th monthPhosphatechanges in serum phosphate (mg/dL)baseline and 12th monthMagnesiumchanges in serum magnesium (mg/dL)baseline and 12th monthCreatininechanges in serum creatinine (mg/dL)baseline and 12th monthBone Alkaline Phosphatasechanges in serum bone alkaline phosphatase (µg/L)baseline and 12th monthOsteocalcinchanges in serum osteocalcin (µg/L)baseline and 12th monthParathyroid Hormonechanges in serum parathyroid hormone (ng/L)baseline and 12th month25-OH vitamin Dchanges in serum 25-OH vitamin D (µg/L)baseline and 12th month1,25(OH)2 vitamin Dchanges in serum 1,25(OH)2 vitamin D (ng/L)baseline and 12th monthFalse710FalseFalseTrueFalse NCT05412394Infant Steroid Phase IINationwide Children's HospitalOTHEROnce Weekly Infant Corticosteroid Trial for DMD2023-09RECRUITINGThe hypothesis tested here is that a lower dose of intermittent oral corticosteroids (5mg/kg/week) will be equally effective to the 10mg/kg/week dose.INTERVENTIONALInclusion Criteria: * Subjects ages 1 month through 30 months * Weakness consistent with Duchenne on exam, creatine kinase ≥ 20 times the upper limit of normal, and genetic mutation known to be causative for DMD. Exclusion Criteria: * Prior treatment with GlucocorticosteroidsMALE2024-10-18T00:00:002022-02-022022-06-072023-09-152022-06-092023-09-182021-04-302026-08-302026-12-30trueTrueFalseThe hypothesis tested here is that a lower dose of intermittent oral corticosteroids (5mg/kg/week) will be equally effective to the 10mg/kg/week dose.Duchenne Muscular DystrophyPHASE426The change from baseline to 24 months for the Gross Motor Scaled Score.Neuromuscular Gross Motor Outcome (GRO): The Neuromuscular GRO is a gross motor outcome measure developed to assess whole body strength, motor development, and function for all levels of ability across the lifespan in those diagnosed with neuromuscular disease. Items are administered following the developmental sequence, as appropriate for age and ability. Maximum score is 100 points.Baseline visit to 24 month visitLanguage (expressive and receptive), Social and Fine Motor skills at 24 months as assessed by the Bayley-4 Scales of Infant and Toddler DevelopmentThe Bayley Scales of Infant and Toddler Development (Bayley-4) are recognized internationally as a comprehensive tool to assess children from as young as 15 days old. With Bayley-4, it is possible to obtain detailed information from non-verbal children as to their functioning. Children are assessed in the five key developmental domains of cognition, language (receptive and expressive), \& motor (fine and gross).Baseline visit to 24 month visitLinear growthWe have previously shown that all infants and young children treated with 10mg/kg/week did maintain their linear growth. This protocol is designed to determine also if the lower dose will still maintain benefit.Baseline visit to 24 month visitFalse130TrueFalseFalseFalse NCT01009294PTC124-GD-008-DMDPTC TherapeuticsINDUSTRYStudy of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)2020-07TERMINATEDDuchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD or BMD * Presence of a nonsense mutation in the dystrophin gene * Unable to ambulate independently for ≥1 year due to DMD/BMD * Presence of sufficient shoulder and elbow function to perform study-related functional procedures (for example, 9-hole peg test) * Adequate hepatic, renal, and adrenal function * Ability to provide evaluable pretreatment echocardiogram and lung function assessments * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions * Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \<18 years of age) Exclusion Criteria: * Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start of study treatment * Use of any intermittent systemic corticosteroid therapy regimen (for example, 10 days on followed by 10 days off, weekend dosing, every-other-day dosing); note that participants must have either been receiving a daily dosing regimen of prednisone, prednisolone, or deflazacort at the time of enrollment into the study or must have not been receiving any systemic corticosteroids * Any change in treatment for congestive heart failure within 3 months prior to start of study treatment * Ongoing warfarin or phenytoin therapy * Prior therapy with ataluren * Known hypersensitivity to any of the ingredients or excipients of ataluren (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab O Sil® M5P \[colloidal silica\], magnesium stearate). * Exposure to another investigational drug within 2 months prior to start of study treatment * History of major surgical procedure within 1 month prior to start of study treatment or expectation of major surgical procedure (for example, scoliosis surgery) during the 48-week treatment period of the study * Ongoing immunosuppressive therapy (other than corticosteroids) * Ongoing participation in any other clinical trial * Requirement for daytime ventilator assistance * Uncontrolled clinical symptoms and signs of congestive heart failure * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study resultsMALE2024-10-18T00:00:002009-11-052009-11-052020-07-272009-11-062020-07-292010-01-132010-03-232010-03-23trueDuchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE26Number of Participants With Treatment Emergent Adverse Events (TEAEs)A TEAE is any untoward medical occurrence or undesirable event(s) experienced in a participant that begins or worsens following administration of the study drug or study treatment, whether or not considered related to the treatment by the Investigator. A serious adverse event (SAE) was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying), or persistent or significant disability/incapacity not related to nmDBMD. AEs included both SAEs and non-serious AEs. AEs were classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 (CTCAE) and coded using the Medical Dictionary for Regulatory Activities (MedDRA). A summary of serious and all other non-serious adverse events, regardless of causality, is located in the Reported Adverse Events module.Baseline up to Day 50Time to Complete Upper Limb Function Tasks as Measured by the Jebsen TestArm and hand function were assessed using the Jebsen test, a standardized clinical evaluation of tasks important to daily living. The test comprises of unilateral subtests performed with each hand (the dominant \[DOM\] hand and the non-DOM hand): moving and stacking light (250 grams) and heavy (500 grams) objects; picking up small, commonly encountered objects; stacking checkers; simulated feeding; simulated page turning; and writing. Participant performance of each task was timed. Longer time to complete the test indicates worse hand function.Baseline and Week 6Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating ScaleUpper extremity function was assessed using the Brooke Upper Extremity Functional Rating Scale, following standardized procedures. The Brooke Upper Extremity Functional Rating Scale graded arm and shoulder function from 1 to 6, with higher values indicating less function. A rating of "1" was used when the participant was able to abduct his arms in a full circle until they touch above his head, whereas a rating of "6" was used when the participant was unable to raise his hands to his mouth and had no useful function of hands.Baseline and Week 6Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) ScaleActivities of daily living after loss of ambulation were measured using the EK scale. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move arms, 6) ability to use hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performs the tasks of daily life (as described by Categories 1 to 9) and how he perceives his wellbeing (as described by Category 10). The interviewer observed the participant and assigned the final score for the tasks that could be observed in the clinic.Baseline and Week 6Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by GoniometryGoniometry was performed to test active and passive range-of motion (RoM) of the left (L) and right (R) shoulder, elbow, and wrist following standardized procedures. The observed angle for passive and active motion for each joint was measured in degrees. Greater degree of motion indicates better response.Baseline and Week 6Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity MyometryUpper extremity myometry was performed using a hand-held dynamometer following standardized procedures. The measured strength (peak force) was reported in Newtons. There are 0.22 pounds (lbs) in 1 Newton and approximately 10 Newton (9.80665 Newton) in 1 kilogram (kg). The threshold/range of the hand-held dynamometer is 0 to 500 Newtons. Bilateral assessments were done, and 3 measurements were recorded from each muscle group on each side, when possible. When the measurements were done in duplicate or triplicate, the best value was used. Greater value indicates better measurement.Baseline and Week 6Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT)Hand fine motor coordination and dexterity were assessed using the 9HPT using standardized procedures. The 9HPT is a unilateral test in which 9 pegs were placed in a board and then removed with the dominate and non-dominate hand within a 5-minute time limit. The amount of time required to put the pegs in the holes and remove them again with each hand was recorded. Each test was conducted twice per hand. Longer time to complete the test indicates worse hand fine motor coordination and dexterity.Baseline and Week 6Forced Vital Capacity (FVC) as Measured by SpirometryPulmonary function was assessed as FVC in participants by spirometry using a study-specific spirometer. Multiple tests were conducted, if needed.Baseline and Week 6Systolic and Diastolic Function as Measured by Echocardiography With Tissue DopplerCardiac function was assessed by echocardiography, which included standard parameters (for example, ejection fraction, left ventricle diastolic and systolic dimensions), as well as parameters integrating Doppler flow analysis with imaging to evaluate perturbations in wall motion. A standardized data collection process harmonized data from all participating institutions and allowed for centralized review.Week 24 and Week 48Heart Rate as Assessed by Radial PulseHeart rate was measured with the radial pulse. Following the Jebsen test, the participant rested for 5 minutes in a sitting position, and the heart rate for the last minute of this rest period was collected as the resting heart rate.Baseline and Week 6Verbal Memory and Attention as Assessed by the Digit Span TaskA series of digits (0-9) were presented to the participant in an auditory format only. The task had 2 parts: in the Forward Condition, the participant was requested to repeat back the digits in the order they were presented, and in the Backward Condition, he was requested to reverse the order of presentation.Baseline and Week 6HRQL as Measured by the PedsQL Inventory Generic Core ScaleHealth-related quality of life (HRQL) was measured by the Pediatric Quality of Life Inventory (PedsQL) Inventory Generic Core Scale. The generic core module comprised of 23 questions evaluating physical, emotional, social, and school functioning. Examples of items in each of the generic core module scales included: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Inventory Generic Core Scale data at Week 6 is presented.Week 6HRQL as Measured by the PedsQL Multidimensional Fatigue ScaleHRQL was measured by the PedsQL Multidimensional Fatigue Scale. The fatigue-specific module comprised of 18 questions evaluating general fatigue, sleep/rest fatigue, and cognitive fatigue. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time." Each of the fatigue-specific module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Multidimensional Fatigue Scale data at Week 6 is presented.Week 6HRQL as Measured by the INQoLHRQL was measured by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL). The INQoL consisted of 45 questions within 10 sections. Four of the sections evaluate key muscle disease symptoms (that is, weakness, locking \[myotonia\], pain, and fatigue), 5 sections evaluate the degree and importance of the impact of muscle disease on particular areas of life, and 1 section asks about the positive and negative effects of treatment. A higher score indicates greater symptom impact or worse HRQL, with a range of 0-7.Week 24 and Week 48Muscle Fragility as Determined by Serum Creatine Kinase (CK) LevelsBlood samples collected for chemistry assays were used to quantify serum CK concentrations. Serum CK was assessed as a potential biomarker for muscle fragility, with a reduction in serum CK considered to be a positive outcome. The reference range was based on the age of the participant.Baseline and Week 6Gastrocnemius Muscle Dystrophin Expression as Determined by Immunofluoresence or by Western Blotting TechniquesThe gastrocnemius muscle was to be biopsied from 1 leg to assess for the production of dystrophin at Week 36. The production of dystrophin was to be measured by immunofluorescene staining of the sarcolemmal membrane or by Western blotting techniques with an antibody to the C-terminal portion of the dystrophin protein (excluding revertant fibers).Week 36Study Drug ComplianceStudy drug compliance was assessed by the participant daily diary and quantification of used and unused study drug. Compliance was assessed in terms of the amount of drug actually taken relative to the amount that should have been taken during the study.Baseline to Day 50Pharmacokinetics: Ataluren Plasma ExposureBlood for ataluren concentrations over a 24-hour period was to be collected on Days 2 and 3 of Week 6. Analysis of the blood samples was to be conducted using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) method.0, 2, 3, 6, 8, 9, 12, 14, 15, and 24 hours after the morning doseFalse7FalseFalseFalseTrue NCT06564974DMD-001Catalyst Pharmaceuticals, Inc.INDUSTRYRegistry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients With Duchenne Muscular Dystrophy.2024-08RECRUITINGThe goal of this observational study is to follow patients being treated with the FDA approved drug AGAMREE® in male patients 2 years of age or older with Duchenne's Muscular Dystrophy for long term safety and quality of life.OBSERVATIONALInclusion Criteria: 1. Patient or parent/guardian willing and able to provide written informed consent after the nature of the registry has been explained and before the start of any registry-related procedures. 2. Patient and/or parent/guardian are willing and able to complete QoL questionnaires. 3. Male patients at least 2 years old. 4. Confirmed diagnosis of DMD (via genetic testing or muscle biopsy with absent dystrophin staining to antidystrophin antibodies 3, 1, or 2, or dystrophin immunohistochemistry or western blot). 5. Currently on treatment with AGAMREE®. Exclusion Criteria: 1. Any contraindication to AGAMREE® or medical condition, which, in the opinion of the investigator, would affect registry participation, performance, or interpretation of registry assessments.MALE2024-10-18T00:00:002024-08-092024-08-192024-08-192024-08-212024-08-212024-07-312030-092030-11falseTrueFalseThe goal of this observational study is to follow patients being treated with the FDA approved drug AGAMREE® in male patients 2 years of age or older with Duchenne's Muscular Dystrophy for long term safety and quality of life.Duchenne Muscular Dystrophy250Change in BMI Z score at the End-of-Registry ( 5 years) or Early-Termination.BMI is in kg/m\^2, using Height in CM (centimeters) and Weight in Kgs(kilograms). Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Height Z-score at the End-of-Registry ( 5 years) or Early-Termination.Height is measured in CM (centimeters). Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Puberty development using the Tanner Stage at the End-of-Registry ( 5 years) or Early-Termination.The Tanner Stage measures pubertal development of male external genitalia and pubic hair. This is a uniformly accepted scale and can be conducted by the Investigator or an endocrinologist. The scale is 1-5 per the following: Male External Genitalia Scale Stage 1: Testicular volume \< 4 ml or long axis \< 2.5 cm Stage 2: 4 ml-8 ml (or 2.5 to 3.3 cm long), 1st pubertal sign in males Stage 3: 9 ml-12 ml (or 3.4 to 4.0 cm long) Stage 4: 15-20 ml (or 4.1 to 4.5 cm long) Stage 5: \> 20 ml (or \> 4.5 cm long) • Pubic Hair Scale Stage 1: No hair Stage 2: Downy hair Stage 3: Scant terminal hair Stage 4: Terminal hair that fills the entire triangle overlying the pubic region Stage 5: Terminal hair that extends beyond the inguinal crease onto the thigh Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Number of Fractures based on Spine x-rays at the End-of-Registry ( 5 years) or Early-Termination.Bone evaluations will be performed through lateral spine x-ray, Anteroposterior (AP) spine x-ray, and dual-energy x-ray absorptiometry.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Presence or absence of Cataracts at the End-of-Registry ( 5 years) or Early-Termination.Cataracts will be assessed by an ophthalmologist based on a Comprehensive Eye Exam to include the Slit Lamp test.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Presence of Cardiomyopathy at the End-of-Registry ( 5 years) or Early-Termination.Cardiomyopathy will be assessed by echocardiography using transmural strain profile (TMSP) analysis.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Evaluation of Hormonal status based on Cortisol levels at enrollment.Morning cortisol ( before 10 AM) levels will be measured in ug/dl by a Central Lab. The normal range is 3.7-19.4 ug/dl.At enrollmentPresence or absence of Glaucoma at the End-of-Registry ( 5 years) or Early-Termination.Glaucoma will be assessed by an ophthalmologist based on a Comprehensive Eye Exam and testing intraocular pressure.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Number of patients experiencing any Adverse Events (AEs) or Serious Adverse Events (SAEs) after signing the Informed Consent Form.Adverse Events (AEs)/ Serious Adverse Events (SAEs) will be assessed by the current version of the CTCAE at the time the adverse event is identified, and will be summarized by MedDRA system organ class and preferred term using the current version of MedDRA.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Pediatric Quality of Life Inventory Duchenne Muscular Dystrophy (PedsQL DMD) Module at the End-of-Registry ( 5 years) or Early-Termination.PedsQL DMD is self-reported. It consists of 18 items in 4 domains. Daily Activities' (5 items),Treatment' (4 items), 'Worry' (6 items) and 'Communication' (3 items). 5-point response scale to indicate how much of a problem each item has been in the past month (0 = never a problem to 4 = almost always a problem). Items are reverse scored and linearly transformed to a 0-100 scale, so that higher scores indicate better QoL. Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Duchenne Muscular Dystrophy Quality of Life (DMD-QoL)at the End-of-Registry ( 5 years) or Early-Termination.The DMD-QoL is a 14-item questionnaire. The questionnaire is answered using a 4-point response scale (Never, Sometimes, A lot of the time, All of the time). The DMD-QoL has a hierarchical (or 'higher-order') factor structure, with 3 lower-order factors (physical, social, and psychological) and 1 higher-order factor (overall QoL, comprised of the 3 lower-order factors). Higher scores represent a more positive QoL (overall or within each subscale). Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Euro Qol 5 Dimensions (EQ-5D) at the End-of-Registry ( 5 years) or Early-Termination.The EQ-5D-5L (5-Levels) will be completed by patients aged 16 years and older or Parent/guardian. The EQ-5D-5L consists of a descriptive system of 5 dimensions (mobility, self-care, usual activities, pain/discomfort, and anxiety/depression) and 5 levels (1, no problems; 2, slight problems; 3, moderate problems; 4, severe problems; 5, extreme problems), and a visual analog scale (VAS) from 0 (worst health) to 100 (best health). Patients aged 8 to 15 years will complete the EQ-5D-Y-3L (Youth) questionnaire. The EQ-5D-Y-3L consists of a descriptive system of 5 dimensions and 3 levels (no problems, some problems, and a lot of problems), and a visual analog scale. Parents/legal guardian of patients aged 4 to 7 years will complete the EQ-5D-Y-3L proxy version, which rates how the parent/legally authorized representative rates the health of the child. Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.t enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Patient Reported Outcome Measure for the Upper Limb (PROM UL) at the End-of-Registry ( 5 years) or Early-Termination.The PROM UL consists of 32 items covering four domains of activities of daily living: (1) food, (7 items, max score 14); (2) self-care, (8 items, max score 16); (3) household and environment, (6 items, max score 12); (4) leisure and communication, (11 items, max score 22). For each question, the patients and/or their parents/legal guardian are asked to report their perceived difficulty in performing the activity on a 3-level scale: Cannot do (0); Can do with difficulty (1); Can do easily (2). The maximum total score is 64. Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in North Star Ambulatory Assessment (NSAA) at the End-of-Registry ( 5 years) or Early-Termination.The NSAA is a clinical assessment scale specifically designed to measure functional ability in ambulant male patients. The NSAA consists of 17 scored items and 2 timed tests, including the Time to Run/Walk Test (TTRW) and the Time to Stand Test (TTSTAND). The TTRW measures the time (in seconds) that it takes the patient to run or walk 10 meters. The TTSTAND measures the time (in seconds) required for the patient to stand in an erect position from supine (floor). Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.Change in Performance of Upper Limb (PUL) at the End-of-Registry ( 5 years) or Early-Termination.The PUL module is a tool designed for assessing upper limb function in ambulant and non-ambulant patients. The PUL module consists of 22 items with an entry item to define the starting functional level (which corresponds to the Brooke scale) and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal (i.e., wrist and fingers) level (8 items). For weaker patients, a low score on the entry item (i.e., less than 4 points) means that shoulder-level items do not need to be performed. Each dimension can be scored separately with a maximum score of 16 for the shoulder level, 34 for the elbow level, and 24 for the distal level. A total score can be achieved by adding the three-level scores, with a maximum global score of 74 points. Change = End-of Registry ( 5 Years) or (early enrollment termination) minus (-) Enrollment.At enrollment, at each Yearly Follow-up Visit (+/- 30 days), and at the End-of-Registry ( 5 years) or Early-Termination.False2FalseFalseFalseFalse NCT00451074NS043186Nationwide Children's HospitalOTHERSix Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons2012-03COMPLETEDThe purpose of this study is to determine the safety of giving intravenous (IV) gentamicin to boys with Duchenne muscular dystrophy who have stop codon mutations.INTERVENTIONALInclusion Criteria: * Age 5-20 years * Duchenne muscular dystrophy documented by written report of stop codon mutation analysis of the dystrophin gene. * Subject is capable of cooperating for efficacy and safety testing * Absent dystrophin on muscle biopsy * Subjects may be untreated, taking prednisone or comparable corticosteroids * Subjects taking corticosteroids must be on the same dose for at least 3 months (90 days) prior to the start of the study. Exclusion Criteria: * Known allergy to any aminoglycoside or sulfate compounds * Current use of potential nephrotoxic or ototoxic drug * Current use of corticosteroids has not been stable for 3 months (90) days * Known mutation at nucleotide 1555 in 12S rRNA gene of mitochondrial DNA (predisposes to aminoglycoside hearing loss and commercially available via Athena Diagnostics Lab). This DNA testing (Hearing susceptibility test) will be made available through funding from this grant. * Inability to hear within the range of 0 to 25 dB in any hearing frequency by pure tone audiometry * Cystatin C equal to or \> 1.4mg/L * Other medical condition that would impede the conduct of study (e.g., congestive heart failure)MALE2024-10-18T00:00:002007-03-212007-03-212012-03-222007-03-232012-03-232007-032009-072009-07trueThe purpose of this study is to determine the safety of giving intravenous (IV) gentamicin to boys with Duchenne muscular dystrophy who have stop codon mutations.Duchenne Muscular DystrophyPHASE112In this phase 1 clinical trial, safety will be measured via gentamicin trough levels, audiology, and renal function tests. These lab tests will remain in the normal range while infusing gentamicin twice a week for 6 month.6 monthsDetermine if gentamicin given over six months improves muscle strength.6 monthsDetermine if gentamicin given over six months increases dystrophin binding at the muscle membrane.6 monthsFalse520TrueFalseFalseFalse NCT040040655051-201Sarepta Therapeutics, Inc.INDUSTRYTwo-Part Study for Dose Determination of Vesleteplirsen (SRP-5051) (Part A), Then Dose Efficacy (Part B) in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment2024-09ACTIVE_NOT_RECRUITINGThis study will be comprised of 2 parts: 1) Part A (Multiple Ascending Dose \[MAD\]) will be conducted to evaluate the safety and tolerability of vesleteplirsen at MAD levels to determine the maximum tolerated dose (MTD), and 2) Part B will be conducted to further evaluate the vesleteplirsen doses selected in Part A. Participants enrolling in Part B will be those who completed Part A or Study 5051-102 (NCT03675126) and meet applicable eligibility criteria for Part B, as well as additional participants who meet applicable eligibility criteria for enrollment at the beginning of Part B.INTERVENTIONALInclusion Criteria for participants previously treated with Vesleteplirsen: - Has received prior Vesleteplirsen treatment in Part A of this study or in Study 5051-102. Exclusion Criteria for participants previously treated with Vesleteplirsen and new participants enrolling into Part B: - Presence of other clinically significant illness, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, or behavioral disease, or infection or malignancy or any other condition that, in the Investigator's opinion, could interfere with participation in the trial. Inclusion Criteria for treatment-naïve participants enrolling into Part B: * Has a genetic diagnosis of Duchenne muscular dystrophy (DMD) and an out-of-frame deletion mutation of the DMD gene amenable to exon 51-skipping treatment. * Has been on a stable dose of oral corticosteroids for at least 12 weeks prior to study drug administration and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight), or has not received corticosteroids for at least 12 weeks prior to study drug administration. * Has stable pulmonary function (forced vital capacity \[FVC\] ≥40% of predicted and no requirement for nocturnal ventilation). Exclusion Criteria for treatment-naive participants enrolling into Part B: * History of hypomagnesemia within 12 weeks prior to Screening. * Initiation or change of dosing (except for modifications to accommodate changes in weight or changes in standard of care) within 12 weeks prior to Screening for any of the following: angiotensin-converting enzyme inhibitors, angiotensin receptor-blocking agents, β-blockers, or potassium. * Initiation or change of dosing within 12 weeks prior to Screening for over-the-counter preparations, such as herbal/nonherbal supplements, vitamins, minerals, and homeopathic preparations. * Has a left ventricular ejection fraction (LVEF) \<40.0% based on an echocardiogram (ECHO) performed within 12 weeks prior to Screening or at the Screening Visit. * Treatment with any exon 51-skipping therapy within 4 weeks prior to Screening, or with any experimental gene therapy for the treatment of DMD at any time. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002019-06-272019-06-272024-10-012019-07-012024-10-032019-06-262023-10-302029-01-31trueTrueFalseThis study will be comprised of 2 parts: 1) Part A (Multiple Ascending Dose \[MAD\]) will be conducted to evaluate the safety and tolerability of vesleteplirsen at MAD levels to determine the maximum tolerated dose (MTD), and 2) Part B will be conducted to further evaluate the vesleteplirsen doses selected in Part A. Participants enrolling in Part B will be those who completed Part A or Study 5051-102 (NCT03675126) and meet applicable eligibility criteria for Part B, as well as additional participants who meet applicable eligibility criteria for enrollment at the beginning of Part B.Duchenne Muscular DystrophyPHASE262Part A: Incidence of Adverse Events (AEs)Part A: Baseline up to 75 weeksPart B: Change From Baseline in Dystrophin Protein Level at Week 28Part B: Baseline, Week 28Part A: Pharmacokinetics (PK): Plasma Concentration of VesleteplirsenPre-dose and at multiple time points (up to 32 hours) after end of infusionPart A: PK: Urine Concentration of VesleteplirsenPre-dose and at multiple time periods (up to 48 hours) after end of infusionPart B: Change From Baseline in Exon-Skipping Levels at Week 28Part B: Baseline, Week 28Part B: Incidence of Adverse Events (AEs)Part B: Baseline up to Week 304Part B: PK: Plasma Concentration of VesleteplirsenPart B predose and at multiple timepoints (up to 48 hours) after end of infusionPart B: PK: Urine Concentration of VesleteplirsenPart B predose and at multiple timepoints (up to 48 hours) after end of infusionPart B: Change from Baseline in Percent Dystrophin-Positive Fibers (PDPF) and Mean Intensity, as Measured by Immunofluorescence Assay at Week 28Part B: Baseline, Week 28False721TrueTrueFalseFalse NCT016338662012-1041Children's Hospital Medical Center, CincinnatiOTHERPediatric Radio Frequency Coils Generic2023-09ACTIVE_NOT_RECRUITINGThe purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).OBSERVATIONALInclusion Criteria: Healthy participants: * Male or Female * Thermally stable * Any age Clinical patients: * Male or Female * Thermally stable * any age Exclusion Criteria: Healthy participants \& Clinical patients * Female participants who are pregnant or lactating * Subjects iwth standard contraindications to MRIALL2024-10-18T00:00:002012-06-212012-07-022023-09-262012-07-042023-09-282012-072025-062025-06trueThe purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).Duchenne Muscular Dystrophy;Musculoskeletal Abnormalities75Number of participants with adverse events as measured by heating and comfort participant responseDay 1MRI Image Quality2 Weeks Post MRI ScanTrueFalseFalseFalseFalse NCT06066580EDG-5506-203Edgewise Therapeutics, Inc.INDUSTRYOpen-Label Extension of EDG-5506 in Participants With Becker Muscular Dystrophy2024-08ENROLLING_BY_INVITATIONEDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophyINTERVENTIONALInclusion Criteria: 1. Participation in EDG-5506-002 ARCH, EDG-5506-201 CANYON and GRAND CANYON, or EDG-5506-202 DUNE. Participants are eligible if they complete the respective prior study visits as follows: * EDG-5506-002 ARCH: Complete the final study Visit 27 \[Month 24\]; or, completion of the ET visit prior to Visit 27 \[Month 24\] * EDG-5506-201 CANYON and GRAND CANYON: Complete the final study visit (Cohorts 1, 2, 4, and 5: Visit 12 \[Month 12\]; Cohort 6: Visit 11 \[Month 18\]) * EDG-5506-202 DUNE: Complete at least 36 weeks of open-label treatment Exclusion Criteria: 1. Any clinically significant changes during or following participation in EDG-5506-002, EDG-5506-201, or EDG-5506-202 that would affect the potential safety of the participant to receive sevasemten. 2. Receipt of an investigational drug other than sevasemten within 30 days or 5 half-lives (whichever is longer) of dosing in the present study. 3. Receipt of oral corticosteroids for the treatment of BMD in the previous 6 months.MALE2024-10-18T00:00:002023-09-272023-09-272024-08-262023-10-042024-08-272023-11-022028-032028-03trueTrueFalseEDG-5506-203 MESA is an open-label extension study to assess the long-term effect of sevasemten (EDG-5506) on safety, biomarkers, and functional measures in adults and adolescents with Becker muscular dystrophyBecker Muscular DystrophyPHASE2200Number of adverse events in those treated with sevasemten19 MonthsSeverity of adverse events in those treated with sevasemten19 MonthsIncidence of treatment-emergent abnormal clinical chemistry laboratory test results18 MonthsIncidence of treatment-emergent abnormal hematology laboratory test results18 MonthsFalseFalseFalseFalseFalse NCT02972580IRB16-00319Nationwide Children's HospitalOTHERCharacterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD2024-08ACTIVE_NOT_RECRUITINGLongitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.OBSERVATIONALInclusion Criteria: * Age \>18 years * Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child * Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene * Cohort C age-matched healthy controls with a normal CK level * Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child * Able to complete testing in English * Able to consent Exclusion Criteria: * Subjects with a contraindication to cardiac or skeletal muscle MRI * Subjects on heart failure medication at time of enrollment * Subjects on steroid treatment * Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study * Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretabilityFEMALE2024-10-18T00:00:002016-07-252016-11-212024-08-262016-11-232024-08-272016-062030-122030-12falseLongitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy250Compromise of cardiac function based on Cardiac Magnetic Resonance ImagingCardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.2 yearsCardiac Function Assessment Treadmill SVO2Stress on heart muscle measured by SVO2 (percentage of oxygen saturation in the blood of the pulmonary artery). SVO2 represents an average of all the venous oxygen saturation of major organs and tissues. This measure provides assessment of cardiopulmonary function and helps measure the degree of cardiac instability and can be an indicator of deterioration from normal.2 yearsPhysical Therapy Assessments Maximum Voluntary Isometric Contraction TestingMVICT measures strength of skeletal muscles by assessing the force generated by by individual muscles. The results can be compared to norms and deterioration can be assessed over time.2 YearsPhysical Therapy Assessments 6 Minute Walk TestA timed test to assess distance walked in 6 minutes is very quantitative and can be assessed in comparison to normal controls. Deterioration over time can be clearly measured.2 yearsPhysical Therapy Assessments ACTIVE-seatedExploratory outcome quantifying upper extremity reaching ability using a custom-designed game telling how far the arm reaches in comparison to overall functional ability of the individual ability.2 YearsPhysical Therapy Assessments Time-to-RiseA timed-test to measure ability to rise from the floor is quantifiable and measuring over time tells if there is loss of function.2 YearsLaboratory biomarkers - Creatine KinaseCK levels are an indicator of muscle breakdown.2 YearsLaboratory biomarkers - C-Reactive ProteinPro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.2 YearsLaboratory biomarkers - Interleukin-6Pro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.2 YearsLaboratory biomarkers - Cortisol levelsHair cortisol levels measure stress levels as a means of understanding coping with disease.2 YearsCognitive AssessmentCognitive function measured by Wechsler Abbreviated Scale of Intelligence (WASI) provides a possible tool to measure disease awareness and establish if IQ level correlates with disease-related stress.2 YearsCaregiver StressOnline self-report survey to assess stress burden on caregiver.2 YearsPulmonary function testing (PFTs)Stable or improved FVC2 YearsTrue18FalseFalseFalseFalse NCT03633565smdmauchAssiut UniversityOTHERComparative Study of Strategies for Management of Duchenne Myopathy (DM)2018-08UNKNOWN1. Comparing different lines of treatment of Duchenne Myopathy (DM) and assessment of new lines of treatment (mesenchymal stem cell, phosphodiesterase inhibitors) in reducing the impact of disability in the patients with Duchenne Myopathy and slowing the progression of cardiomyopathy 2. Upsetting and implementation of the best treatment plan for those children with Duchenne myopathy which is suitable for the available resources in Assiut University Children HospitalINTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed by electromyogram (EMG) , Creatine phosphokinase (CPK) level and/ or DNA analysis or muscle biopsy. * Male patients * Age 5-15y. * Ambulatory (loss of ambulation was only seen in those with baseline 6 Minute Walk Distance {6MWD} \<325 meters.) * No clinical evidence of heart failure. Exclusion Criteria: * Female patients * Any injury which may impact functional testing, e.g. upper or lower limb fracture. * hypertension, diabetes, * Wheelchair bound. * Cardiac rhythm disorder, specifically: rhythm other than sinus, supraventricular tachycardia (SVT), atrial fibrillation, ventricular tachycardia.or heart failure (left ventricle ejection fraction {LVEF \< 50%}. * Continuous ventilatory support. * Liver disease (acute, chronic liver disease) * Renal impairmentMALE2024-10-18T00:00:002018-08-122018-08-152018-08-152018-08-162018-08-162018-092021-092021-11FalseFalse1. Comparing different lines of treatment of Duchenne Myopathy (DM) and assessment of new lines of treatment (mesenchymal stem cell, phosphodiesterase inhibitors) in reducing the impact of disability in the patients with Duchenne Myopathy and slowing the progression of cardiomyopathy 2. Upsetting and implementation of the best treatment plan for those children with Duchenne myopathy which is suitable for the available resources in Assiut University Children HospitalMyopathyPHASE4456 Minute Walk Distance (6MWD)It is used as measure of motor strength in patients with Duchenne Myopathy. A baseline 6MWD of \<350 meters was associated with greater functional decline, and loss of ambulation was only seen in those with baseline 6MWD \<325 meters6 monthFalse515FalseFalseFalseFalse NCT06540365DBMD PREP InterventionUniversity of HaifaOTHERApplying the Pathways and Resources for Engagement and Participation Protocol Among People With Muscles Dystrophies2024-08NOT_YET_RECRUITINGTaking part in community activities is essential for health and well-being. Yet, it is highly restricted for young people with Duchenne and Becker Muscular Dystrophies (DBMD), especially as they grow into adulthood. The Participation Pathways and Resources for Engagement and Participation (PREP) intervention is designed to help remove barriers in the environment. This study aims to see if the PREP intervention is useful and practical for youth and young adults with DBMD. The main question is: How useful is the PREP intervention for improving participation in community-based activities chosen by the participants? Participants will start the study at different times (4, 5, or 6 weeks) and work one-on-one with an occupational therapist on a leisure activity of their choice. They will have eight sessions over 12 to 18 weeks to work on this activity. They will use the Canadian Occupational Performance Measure (COPM) every week to track their performance and satisfaction with the chosen activity before, during, and after the intervention. The findings of this study can guide clinicians, families, and policymakers to select effective approaches that promote the participation of youth and young adults with DBMD in 'real world' activities they choose. It can also increase motivation and compliance and reduce the burden on the healthcare system, families, and people with DBMD themselves.INTERVENTIONALInclusion Criteria: * diagnosed with DBMD * aged 14-30 years * from any sector of Israeli society. Exclusion Criteria: * have previously received the PREP interventionMALE2024-10-18T00:00:002024-08-012024-08-052024-08-052024-08-062024-08-062024-082025-022025-02FalseFalseTaking part in community activities is essential for health and well-being. Yet, it is highly restricted for young people with Duchenne and Becker Muscular Dystrophies (DBMD), especially as they grow into adulthood. The Participation Pathways and Resources for Engagement and Participation (PREP) intervention is designed to help remove barriers in the environment. This study aims to see if the PREP intervention is useful and practical for youth and young adults with DBMD. The main question is: How useful is the PREP intervention for improving participation in community-based activities chosen by the participants? Participants will start the study at different times (4, 5, or 6 weeks) and work one-on-one with an occupational therapist on a leisure activity of their choice. They will have eight sessions over 12 to 18 weeks to work on this activity. They will use the Canadian Occupational Performance Measure (COPM) every week to track their performance and satisfaction with the chosen activity before, during, and after the intervention. The findings of this study can guide clinicians, families, and policymakers to select effective approaches that promote the participation of youth and young adults with DBMD in 'real world' activities they choose. It can also increase motivation and compliance and reduce the burden on the healthcare system, families, and people with DBMD themselves.Duchenne Muscular Dystrophy;Becker Muscular DystrophyNA6Canadian Occupational Performance MeasureA gold-standard 10-point scale that measures activity performance and satisfaction. The score ranges from 1 (unable to perform) to 10 (performs extremely well)Up to 18 weeks (once a week, during base-line and intervention phase)False1430FalseFalseFalseFalse NCT01921374DMDKFederal University of São PauloOTHERMother-caregivers of Children With Duchenne Muscular Dystrophy2016-02COMPLETEDThe incidence of Duchenne Muscular Dystrophy (DMD) is approximately 1 in 3.500 male newborns. During its progression there is loss of mobility, swallowing difficulties and a significant reduction in respiratory capacity. Due to the severity and consequences, is inevitable the need for a caregiver, that normally rely the mother.INTERVENTIONALInclusion Criteria: * Mothers-caregivers of children and adolescents with DMD * Mothers of children and adolescents without any neuromuscular disease and that does not have any chronic disease (bronchiolitis obliterates, cystic fibrosis, a genetic syndrome) Exclusion Criteria: * Volunteers with low levels of education (voluntary functional illiterate) that prevents the questionnaires and understanding of the guidelines made * Working mothers of nocturnal periodFEMALE2024-10-18T00:00:002013-08-082013-08-092016-02-022013-08-132016-02-032013-082013-082014-07trueThe incidence of Duchenne Muscular Dystrophy (DMD) is approximately 1 in 3.500 male newborns. During its progression there is loss of mobility, swallowing difficulties and a significant reduction in respiratory capacity. Due to the severity and consequences, is inevitable the need for a caregiver, that normally rely the mother.Other Diseases or ConditionsNA60sleep patterns of the study populationSince the mother-caregiver dedicates herself entirely to her son, we will performe overnight polysomnography to assess the sleep pattern.BaselineHormonal profileTo assess the health profile of caregivers-mothers are analyzed some markers that may indicate an impairment or damage to the health of each of the parameters: Insulin Cortisol Luteinizing hormone (LH) Follicle-stimulating hormone (FSH) Total Testosterone Estradiol Progesterone Vitamin B12 Adrenocorticotropic hormone (ACTH)BaselineInflammatory profileTo assess the health profile of caregivers-mothers are analyzed some markers that may indicate an impairment or damage to the health of each of the parameters: C-reactive protein (PCR) Immunoglobulin A (IgA) Immunoglobulin G (IgG) Immunoglobulin M (IgM) Complement (C3) Complement (C4) Interleukin 6 Interleukin 10 Interleukin 1β Interleukin 2 Interleukin 4 Interleukin 8 Interferon-gamma (IFN-γ) Endothelin Prostaglandin E2 Intercellular Adhesion Molecule 1 (ICAM) Vascular cell adhesion protein 1 (VCAM) Tumor necrosis factor (TNFα) Adiponectin Leptin Cysteine Lymphocytes subpopulations (T e B)BaselineCardiovascular profileTo assess the health profile of caregivers-mothers are analyzed some markers that may indicate an impairment or damage to the health of each of the parameters: Homocysteine Myoglobin Cardiac troponin I Creatine kinase (CK) Creatine kinase MB (CKMB)BaselineMetabolic profileTo assess the health profile of caregivers-mothers are analyzed some markers that may indicate an impairment or damage to the health of each of the parameters: Glucose Total cholesterol and fractions Triglycerides Uric acid Creatinine Urea Sodium Potassium Hemogram Erythrocyte sedimentation rate Natriuretic Peptide BBaselineTrue2565FalseFalseFalseFalse NCT02018731BMD01University Hospital, Basel, SwitzerlandOTHERL-citrulline and Metformin in Becker's Muscular Dystrophy2016-05COMPLETEDThe purpose of the study is to compare the effects of L-citrulline and metformin and their combination therapy on muscle function and force in patients with Becker muscular dystrophy (BMD).INTERVENTIONALInclusion Criteria: * 18 years or older * Molecular or immunohistochemical diagnosis of BMD * ambulant at the time point of screening Exclusion Criteria: * Participation in another therapeutic BMD study within the last 3 months * Use of L-Arginine, L-Citrulline or Metformin within the last 3 months * Other chronic disease or relevant limitation of renal, liver, heart function according to discretion of investigator * known hypersensitivity to L-citrulline or metforminALL2024-10-18T00:00:002013-12-172013-12-172016-05-132013-12-232016-05-162013-062014-092015-12falseThe purpose of the study is to compare the effects of L-citrulline and metformin and their combination therapy on muscle function and force in patients with Becker muscular dystrophy (BMD).Becker's Muscular Dystrophy (BMD)PHASE220Mean change of motor function measure (MFM) D1 subscore after 6 and 12 weeksweek 6 and week 12MFM total score and six minute walking distance (6MWD)week 6 and week 12Change of muscle fat content (MFC) (assessed by MRI)week 6 and week 12Change of muscle metabolism (assessed by dual energy x-ray absorptiometry (DEXA) and indirect calorimetry)week 6 and week 12Change of laboratory parameters (oxidative and nitrosative stress)week 6 and week 12False18FalseFalseFalseFalse NCT04322357IRB201901339University of FloridaOTHERTwice Weekly Steroids and Exercise as Therapy for DMD2024-01RECRUITINGThe study team will determine the potential of low dose twice weekly prednisone and whether exercise training can synergize to delay disease progression and improve muscle strength/physical function in boys with Duchenne muscular dystrophy (DMD). Current standard of care (daily prednisone) is associated with adverse side effects. Evidence from DMD mouse models suggest that weekly dosing provides same efficacy without side effects. Appropriate exercise may also benefit but this area has not been adequately explored.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed by 1) clinical history with features before the age of five, 2) physical examination, 3) elevated serum creatine kinase level and 4) absence of dystrophin expression, as determined by immunostain or Western blot (\<2%) and/or DNA confirmation of dystrophin mutation. * Age 5.0 to 9 years: a lower age limit of 5.0 years is selected as children younger than that are likely unable to cooperate and comply with all of the exercise measures as needed. An upper age limit of 9 years has been set as boys with DMD tend to reach a rapid progression into a late ambulatory phase soon after this age. * Ambulatory at the time of the first visit, defined as the ability to walk for at least 100 m without an external assistive device and able to climb four stairs. * Aim 1 only: GC-naïve at baseline (and prior 6 months) * Aim 2 only: on stable daily GC regimen for 6 months prior to baseline Exclusion Criteria: * Contraindication to an MR examination (e.g. aneurysm clip, severe claustrophobia, magnetic implants) * Presence of unstable medical problems, significant concomitant illness including cardiomyopathy or cardiac conduction abnormalities * Presence of a secondary condition that impacts muscle function or muscle metabolism (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease) * Presence of a secondary condition leading to developmental delay or impaired motor control (e.g. cerebral palsy) * Presence of an unstable medical condition (e.g. uncontrolled seizure disorder) * Behavioral problems causing an inability to cooperate during testing or understand exercise instruction * Participation in other forms of drug or gene therapy during the period of the studyMALE2024-10-18T00:00:002020-03-242020-03-242024-01-302020-03-262024-01-312020-07-302024-10-072025-10-07trueTrueFalseThe study team will determine the potential of low dose twice weekly prednisone and whether exercise training can synergize to delay disease progression and improve muscle strength/physical function in boys with Duchenne muscular dystrophy (DMD). Current standard of care (daily prednisone) is associated with adverse side effects. Evidence from DMD mouse models suggest that weekly dosing provides same efficacy without side effects. Appropriate exercise may also benefit but this area has not been adequately explored.Duchenne Muscular Dystrophy (DMD)PHASE289Change in BMIParticipant body mass index change (weight and height will be combined to report BMI in kg/m\^2) over the course of one yearBaseline up to 12 monthsFalse59TrueFalseFalseFalse NCT0571595798434Rigshospitalet, DenmarkOTHERFollow-up Study on Female Carriers With DMD Gene Variants2023-02NOT_YET_RECRUITINGBackground Duchenne and Becker muscular dystrophies are X-linked recessive allelic disorders caused by mutations of the dystrophin gene on chromosome Xp21. Female carriers may pass on the pathogenic variant to their daughters, resulting in a significant number of female carriers of pathogenic DMD variants. There was a large variability in the severity of symptoms with some being asymptomatic and some having severe symptoms. Skewed X-Chromosome Inactivation (XCI) might explain some of this variability. But now, the underlying cause of the large variability in phenotype is therefore uncertain. Aim 1. To describe the change over a 6-year follow-up period in the structure and function of the heart and in function and muscle fat fraction in skeletal muscle of DMD/BMD carriers. 2. To explain the relationship between the XCI and the severity of the disease (phenotype). 3. To compare cardiac affection of female carriers of DMD/BMD to patients with BMD using new cardiac MRI techniques (spectroscopy and Dixon sequences). Methods This study contains three parts: Part 1 is a 6-year follow-up on 53 genetically verified female carriers of pathogenic DMD variants initially investigated in 2016-2018 at Copenhagen Neuromuscular Center, Rigshospitalet (Ethical journal no. H-16035677). In this part, the same 53 females will be investigated with the same measurements as 6 years ago to describe the progression of symptoms. All the follow-up results from this study will be compared to the results from 6 years ago. In Part 2 a muscle biopsy will be taken from 1-3 muscles (see "3.3.3 Description of outcomes) to investigate the XCI. To correlate the XCI to the phenotype, these patients will also undergo a muscle MRI and a Medical Research Council scale score for muscle strength (MRC). In Part 3 The cardiac structure and function in patients with BMD will be investigated using a cardiac MRI to compare the findings with that of female carriers. An MRC will carried out to investigate if the heart affection correlates to the muscle affection. Female carriers can decide whether to participate in Part 1, Part 2, or both. Patient with BMD can only participate in Part 3.OBSERVATIONALPart 1: Criteria of inclusion: * Female gender * Verified carrier of DMD gene mutations through genetic testing. * Age of 18 years or more * Participation in the study 6 years ago Criteria of exclusion from MRI: * Contraindications to MRI (pacemaker or other internal metal or magnetic devices) * Claustrophobia. * Pregnant or nursing women. * Competing disorders and other muscle disorders, which may alter measurements of i.e., muscle strength. The investigator will decide whether or not the competing disorder can significantly influence the results. Patients will be investigated with all other measurements than MRI if not eligible for MRI. Part 2: Criteria of inclusion: * Female gender * Verified carrier of DMD gene mutations through genetic testing. * Age of 18 years or more Criteria of exclusion: • Anticoagulating medicine that cannot be paused due to health reasons Part 3: Criteria of inclusion: * Genetically verified patient with BMD * Age of 18 years or more Criteria of exclusion: * Contraindications to MRI (pacemaker or other internal metal or magnetic devices) * Claustrophobia. * Atrial fibrillation * Competing disorders and other muscle disorders, which may alter measurements of i.e., muscle strength. The investigator will decide whether or not the competing disorder can significantly influence the results.ALL2024-10-18T00:00:002023-01-272023-01-272023-02-072023-02-082023-02-092023-03-012024-08-012025-08-01trueFalseFalseBackground Duchenne and Becker muscular dystrophies are X-linked recessive allelic disorders caused by mutations of the dystrophin gene on chromosome Xp21. Female carriers may pass on the pathogenic variant to their daughters, resulting in a significant number of female carriers of pathogenic DMD variants. There was a large variability in the severity of symptoms with some being asymptomatic and some having severe symptoms. Skewed X-Chromosome Inactivation (XCI) might explain some of this variability. But now, the underlying cause of the large variability in phenotype is therefore uncertain. Aim 1. To describe the change over a 6-year follow-up period in the structure and function of the heart and in function and muscle fat fraction in skeletal muscle of DMD/BMD carriers. 2. To explain the relationship between the XCI and the severity of the disease (phenotype). 3. To compare cardiac affection of female carriers of DMD/BMD to patients with BMD using new cardiac MRI techniques (spectroscopy and Dixon sequences). Methods This study contains three parts: Part 1 is a 6-year follow-up on 53 genetically verified female carriers of pathogenic DMD variants initially investigated in 2016-2018 at Copenhagen Neuromuscular Center, Rigshospitalet (Ethical journal no. H-16035677). In this part, the same 53 females will be investigated with the same measurements as 6 years ago to describe the progression of symptoms. All the follow-up results from this study will be compared to the results from 6 years ago. In Part 2 a muscle biopsy will be taken from 1-3 muscles (see "3.3.3 Description of outcomes) to investigate the XCI. To correlate the XCI to the phenotype, these patients will also undergo a muscle MRI and a Medical Research Council scale score for muscle strength (MRC). In Part 3 The cardiac structure and function in patients with BMD will be investigated using a cardiac MRI to compare the findings with that of female carriers. An MRC will carried out to investigate if the heart affection correlates to the muscle affection. Female carriers can decide whether to participate in Part 1, Part 2, or both. Patient with BMD can only participate in Part 3.Muscular Dystrophy;Duchenne Muscular Dystrophy;Becker Muscular Dystrophy103Change in fat fractionChange in fat fraction (in %) in leg muscles from baseline to 6-year follow-up30 minutesChange in fibrosis in the heartChange in fibrosis (in %) in the heart from baseline to 6-year follow-up1 hourChange in LVEF/GLS-scoreChange in LVEF/GLS-score (in %) in the heart from baseline to 6-year follow-up1 hourCorrelation between XCI and phenotypeCorrelation between XCI (ratio of healthy vs mutant X chromosome) and phenotype (from fat fraction and clinical symptoms). Correlation measured using linear regression.1 hourCardiac status in patients with BMD vs carriers of variants in the DMD geneCorrelation between cardiac structure and function (measured through Dixon and spectroscopy from cardiac MRI) between patients with BMD and carriers of genetic variants of the DMD gene.1 hourChange in contractilityChange in contractility (measured as the peak torque divided by the contractile cross sectional area of the muscle) in leg muscles from baseline to 6-year follow-up1 hourChange in blood concentrationsChange in blood concentrations of myoglobin(ng/ML)1 hourChange in blood concentrationsChange in blood concentrations of Creatine kinase(U/L)1 hourChange in blood concentrationsChange in blood concentrations of Creatine kinase MB(U/L)1 hourChange in blood concentrationsChange in blood concentrations of troponin T (TnT) (ng/ML)1 hourChange in blood concentrationsChange in blood concentrations of pro-brain natriuretic peptide (proBNP)(pg/ML)1 hourChange in lower extremity strengthChange in lower extremity strength(measured by biodex 4 in Nm) from baseline to 6-year follow-up.1 hourChange in questionnaires on fatigueChange in questionnaires on fatigue (using the fatigue severity scale score) from baseline to 6-year follow-up.5 minutesProgression of electrocardiographic findingsProgression of electrocardiographic findings from baseline to 6 year follow-up (measured by electrocardiographic as number of new incidents)10 minutesCorrelation between cardiac structure and functionCorrelation between cardiac structure (Dixon and spectroscopy from cardiac MRI) and muscle function (measured through the medical research council score from 1-5) in patients with BMD1 hour18FalseFalseFalseFalse NCT05280730HM20016614Virginia Commonwealth UniversityOTHERAssessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy2024-04RECRUITINGDuchenne Muscular Dystrophy is a genetic disease that causes progressive muscle weakness. There is now substantial evidence that boys with this disease do not demonstrate age-related gains in their cognitive skills. The goals of this study are (i) to use a technology-enabled neurobehavioral assessment called National Institutes of Health Toolbox Cognition Battery (NIHTB-CB) to assess brain development over time; (ii) engage with key-stakeholders to understand how neurodevelopmental problems like attention-deficit hyperactivity, autism spectrum affects individuals (and/or) families, so that we can understand meaningful effects of a potential treatment at an individual level, and (iii) to investigate using brain magnetic resonance imaging (MRI) changes in brain connectivity.OBSERVATIONALInclusion Criteria: * Boys with confirmed genetic mutation in the dystrophin gene * Boys with clinical features of DMD and in whom muscle biopsy showed absence of dystrophin * Boys with clinical features of DMD and in whom there is a family history of DMD * Symptomatic carrier girls with DMD * Ages 3 and above at time of study screening Exclusion Criteria: * Care-giver unable to give consent * Any handicap that does not allow the ability to use an IPAD * For MRI, braces or any metal implants.ALL2024-10-18T00:00:002022-03-042022-03-042024-04-152022-03-152024-04-162022-02-022024-122024-12FalseFalseDuchenne Muscular Dystrophy is a genetic disease that causes progressive muscle weakness. There is now substantial evidence that boys with this disease do not demonstrate age-related gains in their cognitive skills. The goals of this study are (i) to use a technology-enabled neurobehavioral assessment called National Institutes of Health Toolbox Cognition Battery (NIHTB-CB) to assess brain development over time; (ii) engage with key-stakeholders to understand how neurodevelopmental problems like attention-deficit hyperactivity, autism spectrum affects individuals (and/or) families, so that we can understand meaningful effects of a potential treatment at an individual level, and (iii) to investigate using brain magnetic resonance imaging (MRI) changes in brain connectivity.Duchenne Muscular Dystrophy90Change in NIHTB-CB Total Cognition Score over timebaseline and 18 monthsChange in brain connectivity over timeChange in brain connectivity as measured by brain MRIbaseline and 12 monthsFalse3FalseFalseFalseFalse NCT039924304658-402Sarepta Therapeutics, Inc.INDUSTRYA Study to Compare Safety and Efficacy of a High Dose of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) (MIS51ON)2024-04ACTIVE_NOT_RECRUITINGThis study will be comprised of 2 parts: Part 1 (dose escalation) will be conducted to evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram \[mg/kg\] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will be conducted for the selection of a high dose (100 mg/kg versus 200 mg/kg) and its comparison with the 30 mg/kg dose of eteplirsen, in approximately 144 participants with genetically confirmed deletion mutations amenable to treatment by skipping exon 51.INTERVENTIONALInclusion Criteria: * Be a male with an established clinical diagnosis of DMD and an out-of-frame deletion mutation of the DMD gene amenable to exon 51 skipping. * Ambulatory participant, able to perform TTRISE in 10 seconds or less at the time of screening visit. * Able to walk independently without assistive devices. * Have intact right and left biceps muscles or an alternative upper arm muscle group. * Have been on a stable dose or dose equivalent of oral corticosteroids for at least 12 weeks prior to randomization and the dose is expected to remain constant (except for modifications to accommodate changes in weight and stress-related needs as per the recently published guidelines throughout the study. * For ages 7 years and older, has stable pulmonary function (forced vital capacity ≥50 percent (%) of predicted and no requirement for nocturnal ventilation). For ages 4 to 6 years, does not require support from ventilator or non-invasive ventilation at time of screening. Exclusion Criteria: * Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks prior to randomization. * Current or previous treatment with any other experimental pharmacologic treatment for DMD or any prior exposure to antisense oligonucleotide, gene therapy or gene editing; except the following: Ezutromid in the last 12 weeks prior to first dose; Drisapersen in the last 36 weeks prior to first dose; Suvodirsen in the last 12 weeks prior to first dose; Vamorolone in the last 12 weeks prior to first dose; and Eteplirsen (previous or current use). * Major surgery within 3 months prior to randomization. * Presence of any other significant neuromuscular or genetic disease other than DMD. * Presence of any known impairment of renal function and/or other clinically significant illness. * Has evidence of cardiomyopathy, as defined by left ventricular ejection fraction less than \<50% on the screening echocardiogram or Fridericia's correction formula (QTcF) ≥450 millisecond based on the screening electrocardiograms (ECGs). Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002019-06-182019-06-182024-04-112019-06-202024-04-152020-07-132024-11-302024-11-30trueTrueFalseThis study will be comprised of 2 parts: Part 1 (dose escalation) will be conducted to evaluate the safety and tolerability of 2 doses (100 milligrams/kilogram \[mg/kg\] and 200 mg/kg) of eteplirsen in approximately 10 participants with DMD; Part 2 (dose finding and dose comparison) will be conducted for the selection of a high dose (100 mg/kg versus 200 mg/kg) and its comparison with the 30 mg/kg dose of eteplirsen, in approximately 144 participants with genetically confirmed deletion mutations amenable to treatment by skipping exon 51.Muscular Dystrophy, DuchennePHASE3160Part 1: Incidence of Adverse Events (AEs)Up to Week 148Part 2: Change From Baseline in the NSAA Total Score at Week 144Baseline, Week 144Part 2: Change From Baseline in Time to Rise From the Floor, Time to Complete 10-Meter Walk/Run, and the Timed Stair Ascend TestBaseline, Week 144Part 2: Change From Baseline in the Total Distance Walked During 6-Minute Walk Test (6MWT)Baseline, Week 144Part 2: Change from Baseline in Forced Vital Capacity Percent Predicted (FVC%p) at Week 144Baseline, Week 144Part 2: Time to Loss of Ambulation (LOA)Baseline up to Week 144Part 2: Change From Baseline in Skeletal Muscle Dystrophin ExpressionBaseline, Postdose (at Week 24, Week 48, or Week 144)Part 2: Incidence of Adverse Events (AEs)Baseline up to Week 148Part 2: Pharmacokinetic (PK) Plasma Concentration of Eteplirsen0 (predose) to 2 hours postdose up to Week 144False413TrueFalseFalseFalse NCT04626674SRP-9001-103Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy Study to Evaluate the Safety of and Expression From Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)2024-08ACTIVE_NOT_RECRUITINGThis is an open-label gene transfer therapy study evaluating the safety of and expression from delandistrogene moxeparvovec in participants with DMD. The maximum participant duration for this study is 156 weeks.INTERVENTIONALInclusion Criteria: * For Cohorts 1-7: Has a definitive diagnosis of DMD based on documented clinical findings and prior genetic testing. * Cohort 1: Is ambulatory, and ≥4 to \<8 years of age at the time of Screening. * Cohort 2: Is ambulatory, and ≥8 to \<18 years of age at the time of Screening. * Cohort 3: Non-ambulatory per protocol specified criteria at the time of Screening. * Cohort 4: Is ambulatory and ≥3 to \<4 years of age at the time of Screening. * Cohort 5a: Is ambulatory and ≥4 to \<9 years of age. * Cohort 5b: Non-ambulatory per protocol specified criteria at the time of Screening. * Cohort 6: Is ambulatory, and ≥2 to \<3 years of age at the time of Screening. * Cohort 7: Non-ambulatory per protocol-specified criteria at the time of Screening. * Ability to cooperate with motor assessment testing. * Cohorts 1, 2, 3, 5, and 7 only: Stable dose equivalent of oral glucocorticoids for at least 12 weeks before screening and the dose is expected to remain constant (except for modifications to accommodate changes in weight) throughout the first year of the study. * Cohorts 4 and 6: Do not yet require use of chronic steroids for treatment of their DMD, in the opinion of the Investigator, and are not receiving steroids at the time of Screening. * rAAVrh74 antibody titers are not elevated as per protocol-specified requirements. * Genetic mutation inclusion criteria vary by cohort. Exclusion Criteria: * Has a concomitant illness, autoimmune disease, chronic drug treatment, and/or cognitive delay/impairment that in the opinion of the Investigator creates unnecessary risks for gene transfer. * Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression within protocol-specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002020-11-062020-11-062024-08-222020-11-122024-08-262020-11-232024-07-232026-07-31trueTrueFalseThis is an open-label gene transfer therapy study evaluating the safety of and expression from delandistrogene moxeparvovec in participants with DMD. The maximum participant duration for this study is 156 weeks.Muscular Dystrophy, DuchennePHASE155Part 1: Change from Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression at Week 12, as Measured by Western BlotBaseline, Week 12Part 1: Quantity of Delandistrogene Moxeparvovec Dystrophin Expression at Week 12 as Measured by Western BlotWeek 12Vector Shedding, Measured in Urine, Saliva, and Stool Samples Post-InfusionDay 1 up to Week 104Level of Antibody Titers to Recombinant Adeno-Associated Virus Serotype rh74 (rAAVrh74)Day 2 up to Week 156Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs) and Adverse Events (AEs) of Special InterestBaseline up to Week 156Change from Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression at Week 12, as Measured by Immunofluorescence (IF) Fiber IntensityBaseline, Week 12Change from Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression at Week 12, as Measured by IF Percent Dystrophin Positive Fibers (PDPF)Baseline, Week 12Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression at Week 12 as Measured by IF Fiber Intensity:Week 12Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression at Week 12 as Measured by IF PDPFWeek 12False2FalseFalseFalseTrue NCT036751265051-102Sarepta Therapeutics, Inc.INDUSTRYAn Open-Label Extension Study for Patients With Duchenne Muscular Dystrophy Who Participated in Studies of SRP-5051 (Vesleteplirsen)2024-08TERMINATEDThe purpose of this extension study is to evaluate the safety, tolerability, and pharmacokinetics of repeat administrations of SRP-5051 (vesleteplirsen) in participants with Duchenne muscular dystrophy (DMD) who participated in studies of SRP-5051.INTERVENTIONALInclusion Criteria: • Has completed a study of SRP-5051 and continues to meet the Eligibility Criteria of Study 5051-102. Exclusion Criteria: * Initiation or change of dosing (except for modifications to accommodate changes in weight or changes in standard of care) since completing a study administering SRP-5051 and while participating in this study for any of the following: angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blocking agents (ARBs), beta-blockers, potassium and steroids\*. * Requires antiarrhythmic and/or diuretic therapy for heart failure. * Use of any herbal medication/supplement containing aristolochic acid. * Treatment with any experimental therapy since entering original study or any experimental gene therapy for the treatment of DMD at any time. * Participation in an interventional clinical trial since completing original study. Other inclusion/exclusion criteria apply. \* The dose of steroids must remain constant except for modifications to accommodate changes in weight.MALE2024-10-18T00:00:002018-08-062018-09-142024-08-212018-09-182024-09-192018-12-192021-08-252021-08-25trueTrueFalseThe purpose of this extension study is to evaluate the safety, tolerability, and pharmacokinetics of repeat administrations of SRP-5051 (vesleteplirsen) in participants with Duchenne muscular dystrophy (DMD) who participated in studies of SRP-5051.Muscular Dystrophy, DuchennePHASE1PHASE215Number of Participants Experiencing Treatment-emergent Adverse Events (TEAEs)A TEAE was any untoward medical occurrence in a clinical study participant that did not necessarily have a causal relationship with the study drug. A TEAE could, therefore, be any unfavorable and unintended symptom, sign, disease, condition, or test abnormality that occurred during or after administration of the study drug, whether or not considered related to the study drug. A summary of serious and all other non-serious TEAEs regardless of causality is located in the Reported Adverse Events module.Up to approximately 135 weeksPlasma Concentration of SRP-5051For pharmacokinetic (PK) analysis, plasma samples were collected pre-dose (approximately 30 minutes prior to the start of infusion), immediately prior to the end of infusion (prior to flush), and approximately 4 to 6 hours after the end of dosing. Results are reported in micrograms/liter (ug/L) and are presented as an average across the days specified in the time frame.Day 1, Day 84, every 84 days after Day 84 (up to a maximum of approximately 135 weeks) (pre-dose, immediately prior to end of infusion, up to 4-6 hours post-dose)False4FalseFalseFalseFalse NCT01978366HALO-DMD-02Processa PharmaceuticalsINDUSTRYOpen Label Extension Study of HT-100 in Patients With DMD2019-07TERMINATEDThis study is designed to provide 6-months continuous dosing with the study medication, called HT-100, on participants who successfully completed the predecessor study (HALO-DMD-01). The main purpose of this study is to assess chronic safety, tolerability, pharmacodynamic activity (testing the drug's effect on DMD) and population pharmacokinetics (measuring how much drug is in the bloodstream) in participants with a broad spectrum of Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Completed both the single ascending dose (SAD) and multiple ascending dose (MAD) phases of predecessor study HALO-DMD-01 * Maintained the same corticosteroid therapy from the predecessor study HALO-DMD-01 * Ability to provide written informed consent * Ambulatory or non-ambulatory Exclusion Criteria: * Recent, substantial change in use of cardiac medications or medications affecting muscle function * Clinically significant major disease, not related to DMD * Significantly compromised cardio-respiratory function * History of severe allergic or anaphylactic reactions * Prior treatment with another investigational product in past 6 months * Inability to undergo magnetic resonance imaging (MRI) * Current drug or alcohol abuse or prior treatment for abuseMALE2024-10-18T00:00:002013-10-312013-10-312020-08-312013-11-072020-09-032013-102016-04-302016-04-30trueThis study is designed to provide 6-months continuous dosing with the study medication, called HT-100, on participants who successfully completed the predecessor study (HALO-DMD-01). The main purpose of this study is to assess chronic safety, tolerability, pharmacodynamic activity (testing the drug's effect on DMD) and population pharmacokinetics (measuring how much drug is in the bloodstream) in participants with a broad spectrum of Duchenne muscular dystrophy (DMD).Duchenne Muscular DystrophyPHASE217Safety and tolerability of administration of 6 months of chronic, oral, multiple doses of HT-100 to boys with DMD.* Target Safety profile by review of adverse events (AEs) * Physical examination findings * Clinical laboratory test results * Other diagnostic testingMonths 2, 4, 6, 7Pharmacodynamic signals of HT-100 following chronic oral administration of multiple doses to boys with DMD.* Pulmonary function * Motor function * Muscle composition * Biochemical and imaging markersMonths 4, 6, 7Pharmacokinetic plasma profile of HT-100 following chronic oral administration of multiple doses to boys with DMD.Halofuginone plasma concentrationsMonths 4, 6False620FalseFalseFalseTrue NCT05635266SAN-BB-02Sanguine BiosciencesINDUSTRYTissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives2024-05RECRUITINGTo collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.OBSERVATIONALInclusion Criteria: * Persons 18 to 85 years of age at the date of informed consent. * If presenting with a history of a specific condition, the diagnosis is confirmable in the medical record or may be confirmed using other forms of verification including self-reporting. * Understands the procedures and requirements of the study by providing written informed consent (or verbal assent if a legally authorized representative will sign the ICF), including consent for authorization for protected health information disclosure. Exclusion Criteria: * Persons younger than 18 years of age or older than 85 years of age at the date of informed consent. * Receipt of blood products 30 days before the study blood draw. * Receipt of an investigational (unapproved) drug 30 days before the study blood draw. * A confirmable diagnosis of any medical condition that would increase potential phlebotomy risks. * Has donated a unit of blood within the last 2 months at the date of informed consent.ALL2024-10-18T00:00:002022-11-222022-11-222024-05-032022-12-022024-05-072021-10-262025-102025-10FalseFalseTo collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.Age-Related Macular Degeneration;Allergies;Alpha-Gal Syndrome;Alzheimer Disease;Amyloidosis;Ankylosing Spondylitis;Arthritis;Alopecia Areata;Asthma;Atopic Dermatitis;Autism;Autoimmune Hepatitis;Behcet's Disease;Beta-Thalassemia;Cancer;Celiac Disease;Kidney Diseases;COPD;Crohn Disease;Cystic Fibrosis;Diabetes;Dravet Syndrome;DMD;Fibromyalgia;Graves Disease;Thyroid Diseases;Hepatitis;Hidradenitis Suppurativa;ITP;Leukemia;ALS;Lupus or SLE;Lymphoma;Multiple Sclerosis;Myasthenia Gravis;Heart Diseases;Parkinson Disease;Pemphigus Vulgaris;Cirrhosis;Psoriasis;Schizophrenia;Scleroderma;Sickle Cell Disease;Stroke;Ulcerative Colitis;Vasculitis;Vitiligo20000Biospecimen & Clinical Data CollectionTo collect enough biospecimens and associated clinical data to allow researchers to come to statistically relevant scientific results10 yearsTrue1885FalseFalseFalseFalse NCT03680365Jett 0001Jett Foundation, Inc.OTHERYour Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families2019-03COMPLETEDThe purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease. Data will be collected by online survey when the participant accepts the study invitation ("RSVP questionnaire") and telephone interview on the functional burden and self-identified treatment goals from the perspective of people with DMD and their caregivers. Interviews will be analyzed to help identify things important to Duchenne families to measure in clinical trials and to inform the selection of key concepts of interest and development of future clinical outcome measures, including observer reported outcomes/patient reported outcomes. The study will be conducted in the United States and will enroll between 45 and 120 participants 11 years or older living with DMD as well as their caregivers. The time commitment for the online survey and the telephone interview is about one hour. It is anticipated that the entire study will be completed within one year.OBSERVATIONALInclusion Criteria: 1. Participant must be a person with DMD who is 11 years or older or The parent/legal guardian of a person with DMD who is under the age of 18 years. 2. Confirmed diagnosis of DMD with written proof of disease provided 3. Resident of the U.S. 4. Able to read, write and communicate in English 5. Able to grant informed consent 6. Willing to participate in a 45 minute telephone interview 7. Ability to view or receive a document from the interviewer before or during the interview (web browser, ability to receive a text, fax or document by mail) Exclusion Criteria: 1. Inability to meet any of the inclusion criteriaALL2024-10-18T00:00:002018-09-062018-09-202019-03-292018-09-212019-04-012018-09-202019-03-152019-03-15falseFalseFalseThe purpose of this study is to improve the understanding of the treatment goals that a person with Duchenne Muscular Dystrophy (DMD) or the caregiver may be most interested in, based on the severity of the person's disease. Data will be collected by online survey when the participant accepts the study invitation ("RSVP questionnaire") and telephone interview on the functional burden and self-identified treatment goals from the perspective of people with DMD and their caregivers. Interviews will be analyzed to help identify things important to Duchenne families to measure in clinical trials and to inform the selection of key concepts of interest and development of future clinical outcome measures, including observer reported outcomes/patient reported outcomes. The study will be conducted in the United States and will enroll between 45 and 120 participants 11 years or older living with DMD as well as their caregivers. The time commitment for the online survey and the telephone interview is about one hour. It is anticipated that the entire study will be completed within one year.Duchenne Muscular Dystrophy;Burden, Dependency;Disability Physical;Disease Management;Impairment;Rare Diseases60Patient/Parent Interview Assessing Treatment NeedsIn this non-interventional study, up to 120 patients/parents will participate in an online survey designed to determine the patient's functional category; ambulatory, transitional, or non-ambulatory. 15 patients from each functional category will be interviewed to gather qualitative input, in the patient's voice, regarding activities they would like to do but cannot do because of DMD, and reasons why these activities are important to them. Qualitative responses will be scored to provide quantitative frequency counts and point values for each answer dependent upon if the response was the most important, 2nd most important and 3rd most important activity to the participant. Data will be coded by two independent coders to ensure consistency. Scores will be calculated by functional category for: 1. Number of times each activity is mentioned 2. Overall score for each activity 3. Number of times each reason is mentioned 4. Overall score for each reason1 yearTrue11FalseFalseFalseFalse NCT04336826PTC124-GD-048-DMDPTC TherapeuticsINDUSTRYA Study to Evaluate the Safety and Pharmacokinetics of Ataluren in Participants From ≥6 Months to <2 Years of Age With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)2024-02COMPLETEDThis study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to \<2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).INTERVENTIONALInclusion Criteria: * Body weight ≥7.5 kilograms (kg) * Diagnosis of duchenne muscular dystrophy (DMD) based on an elevated serum creatine kinase and genotypic evidence of dystrophinopathy. * Documentation of the presence of a nonsense mutation of the dystrophin gene as determined by gene sequencing prior to enrollment. Exclusion Criteria: * Participation in any drug or device investigation or whose sibling is currently participating in a blinded portion of another ataluren study or received an investigational drug within three months prior to the Screening Visit or who anticipate participating in any other drug or device clinical investigation or receiving any other investigational drug within the duration of this study. * Expectation of a major surgical procedure during the study period. * Known hypersensitivity to any of the ingredients or excipients of the study drug (polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, colloidal silica, or magnesium stearate). * Ongoing use of the following drugs: 1. Systemic aminoglycoside therapy and/or intravenous (IV) vancomycin. 2. Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel. 3. Inducers of UGT1A9 (for example, rifampicin), or substrates of OAT1 or OAT3 (for example, ciprofloxacin, adefovir, oseltamivir, aciclovir, captopril, furosemide, bumetanide, valsartan, pravastatin, rosuvastatin, atorvastatin, pitavastatin).MALE2024-10-18T00:00:002020-04-032020-04-032024-03-082020-04-072024-04-012021-12-292023-08-072023-08-07falseTrueFalseThis study is designed to evaluate safety, tolerability, and pharmacokinetics (PK) in male children with nmDMD aged ≥6 months to \<2 years treated daily for 24 weeks with orally administered ataluren 10, 10, and 20 milligrams/kilogram (mg/kg) (morning, mid-day, and evening dose, respectively).Nonsene Mutation Duchenne Muscular DystrophyPHASE26Number of Participants With Treatment-Emergent Adverse Events (TEAEs)An adverse event (AE) was as any untoward medical occurrence associated with the use of a drug in humans, whether or not considered drug related. Serious adverse event (SAE): an AE that met at least 1 of the following criteria: resulted in death, was life-threatening, required inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability/incapacity or substantial disruption of the ability to conduct normal life functions, congenital anomaly/birth defect, important medical event. A TEAE was defined as an AE that occurred or worsened while on ataluren (on or after first dose of ataluren) up to 4 weeks after the last dose. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Reported Adverse Events' Section.Baseline up to Week 28Area Under the Concentration-Time Curve From Time 0 to 24 Hours (AUC0-24) of AtalurenPredose up to 12 hours postdose at Week 24Area Under the Concentration-Time Curve Between Dosing Interval (AUC0-τ) of AtalurenPredose up to 12 hours postdose at Week 24Maximum Concentration (Cmax) of AtalurenPredose up to 12 hours postdose at Week 24Time to Maximum Plasma Concentration (Tmax) of AtalurenPredose up to 12 hours postdose at Week 24Trough Concentration (Ctrough) of AtalurenPredose up to 12 hours postdose at Week 24False62FalseFalseFalseFalse NCT041848820367-CL-0102Astellas Pharma IncINDUSTRYA Study to Assess the Safety, Tolerability and Preliminary Efficacy of ASP0367 (MA-0211) in Pediatric Male Participants With Duchenne Muscular Dystrophy (DMD)2023-10TERMINATEDThe primary purpose of this study is to evaluate the safety and tolerability of ASP0367. This study will also evaluate the pharmacokinetics, pharmacodynamics and efficacy on muscle function of ASP0367.INTERVENTIONALInclusion Criteria: * Subject has a diagnosis of Duchenne muscular dystrophy (DMD) (confirmed by Central Genetic Counselor) defined as a clinical picture consistent with typical DMD and 1 of the following: * Dystrophin immunofluorescence and/or Western blot showing severe dystrophin deficiency consistent with the diagnosis of DMD. * Identifiable mutation within the DMD gene (deletion/duplication of 1 or more exons), where reading frame can be predicted as "out-of-frame" * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication or other) that is expected to preclude production of the functional dystrophin protein (i.e., nonsense mutation or deletion/duplication leading to a downstream stop codon). * A male subject of reproductive potential (Tanner Stage 2 and above) must agree to do either of the following from screening throughout the study until 30 days after the last dose of the investigational product (IP): * Abstain from sexual intercourse, OR * If having heterosexual intercourse, must use a condom and their female partners who are of childbearing potential must use a highly effective contraception method. * Subject has been on a stable regimen of corticosteroids for 6 months prior to the time of enrollment (at baseline). * Subject has been on stable cardiac therapy for 3 months prior to the time of enrollment (at baseline), if used, which may include prophylactic angiotensin-converting enzyme inhibitors (ACE), angiotensin II receptor blocker (ARB), aldosterone receptor antagonists (e.g., spironolactone, eplerenone), and/or beta-blocker therapy or a combination therapy thereof. * Subject is unable to complete the 10 meter run/walk in \<6 seconds at screening. * Subject has a PUL 2.0 entry item A score of 4, 5 or 6 at screening. * Subject and subject's parent(s) or legal guardian agrees not to participate in another interventional study while participating in the present study. * For those subjects receiving exon-skipping therapy, the subject has been on a stable dose regimen with a single commercially-available product for at least 6 months prior to randomization at baseline. * For those subjects using metformin, the subject has been on a stable dose of metformin for 3 months prior to the time of enrollment (at baseline) and the investigator expects the subject to maintain the current metformin dose. Exclusion Criteria: * Subject has had an acute illness (i.e., upper respiratory or viral infection) within 4 weeks prior to study enrollment (at baseline), which precludes participation. * Subject has a cardiac ejection fraction \< 53% on echocardiogram at screening. * Subject has a mean QT interval from triplicate electrocardiogram (ECG) using Fridericia's correction (QTcF) of \> 450 msec at screening. If the mean QTcF exceeds the limits stated above, 1 additional triplicate ECG can be taken and utilized at screening. * Subject has cardiac troponin I (cTnI) above the upper limit of normal (ULN) at screening and is assessed clinically significant. * Subject has used coenzyme Q10 (CoQ10), idebenone, carnitine, or other mitochondrial focused supplements or drugs within 4 weeks prior to randomization at baseline. In addition, subject has used any peroxisome proliferator-activated receptors (PPAR) ligands such as fibrates and thiazolidinediones 4 weeks prior to randomization at baseline. * Subject has a known or suspected hypersensitivity to ASP0367, or any components of the formulation used. * Subject has inadequate renal function, as defined by serum Cystatin C \> 2 x ULN at screening. * Subject who has any of the following liver function tests elevated: gamma-glutamyl transferase \[GGT\] and/or total bilirubin \[TBL\]) \> 1.5 x ULN at screening. * Subject who has a positive test result for hepatitis A virus (HAV) antibodies (immunoglobulin M \[IgM\]), hepatitis B surface (HBs) antigen, hepatitis C virus (HCV) antibody or human immunodeficiency virus (HIV) antigen/antibody at screening. * Subject has mental conditions such as schizophrenia, bipolar disorder or major depressive disorder. * Subject has a history of suicide attempt, suicidal behavior or has any suicidal ideation within 1 year prior to screening that meets criteria at a level of 4 or 5 by using the Columbia Suicide Severity Rating Scale (C-SSRS) or who is at significant risk to commit suicide, as assessed at screening or at baseline. * Subject has severe behavioral or cognitive problems that preclude participation in the study. * Subject has any condition, which makes the subject unsuitable for study participation. * Subject is taking any other investigational therapy currently or has taken any other investigational therapy within 3 months prior to the time of enrollment (at baseline). * Subject and parent/guardian are unwilling and unable to comply with scheduled visits, IP administration plan and study procedures. * Subject tested positive for coronavirus (SARS-CoV-2) infection without any clinical signs or symptoms within 2 weeks prior to randomization at baseline and/or has had clinical signs and symptoms consistent with coronavirus (SARS-CoV-2) infection and fully recovered within 4 weeks prior to randomization at baseline. * Subject whose parent(s) and/or caregiver(s) have increased risk of coronavirus (SARS-CoV-2) exposure from work history (e.g., nursing home, meat processing facility and correctional facility) or recent travel history unless the subject's parent(s) and/or caregiver(s) have been appropriately vaccinated with one of the COVID-19 vaccines.MALE2024-10-18T00:00:002019-12-022019-12-022023-10-172019-12-042023-10-182021-02-242022-09-042022-09-04trueTrueFalseThe primary purpose of this study is to evaluate the safety and tolerability of ASP0367. This study will also evaluate the pharmacokinetics, pharmacodynamics and efficacy on muscle function of ASP0367.Duchenne Muscular Dystrophy (DMD)PHASE18Number of participants with Treatment Emergent Adverse Events (TEAEs)An AE is any untoward medical occurrence in a subject administered an investigational product (IP), and which does not necessarily have to have a causal relationship with this treatment. A TEAE is defined as an AE observed after starting administration of the investigational product (IP) to 28 days after the last dose of IP for the double blind part or moving to the open-label extension part, whichever comes first. An IP-related TEAE is defined as any TEAE with a causal relationship of "yes" by the investigator.Up to Week 28Number of participants with vital sign abnormalities and/or AEsNumber of participants with potentially clinically significant vital sign values.Up to Week 28Number of participants with body weight change abnormalities and/or AEsNumber of participants with potentially clinically significant body weight.Up to Week 28Number of participants with electrocardiogram (ECG) abnormalitiesNumber of participants with potentially clinically significant 12-ECG values.Up to Week 28Number of participants with echocardiography abnormalities and/or AEsNumber of participants with potentially clinically significant echocardiography values.Up to Week 28Number of participants with laboratory value abnormalities and/or AEsNumber of participants with potentially clinically significant laboratory values.Up to Week 28Number of participants with suicidal ideation and/or behavior as assessed by Columbia-Suicide Severity Rating Scale (C-SSRS) Change from baseline in Columbia-Suicide Severity Rating Scale (C-SSRS)The Columbia-Suicide Severity Rating Scale (C-SSRS) is a clinician administered assessment tool that evaluates suicidal ideation and behavior. Number of participants that have an affirmative response provided to the 5 items for suicidal ideation (1. Wish to be dead, 2. Non-specific active suicidal thoughts, 3. Active suicidal ideation with any methods (not plan) without intent to act, 4. Active suicidal ideation with some intent to act, without specific plan, 5. Active suicidal ideation with specific plan and intent) and/or to the 6 items for suicidal behavior (1. Actual attempt, 2. Interrupted attempt, 3. Aborted attempt, 4. Preparatory acts or behavior, 5. Suicidal Behavior 6. Completed suicide,) will be reported.Baseline and up to Week 28Change from baseline in digit span testThe Digit span test is a subtest of Wechsler Intelligence Scale for children (WISC). This test comprises 3 parts on the fifth edition (WISC-V). Digit Span Forward requires the subject to repeat numbers in the same order as presented by the interviewer. Digit Span Backward requires the subject to repeat the numbers in the reverse order of that presented by the interviewer. Digit Span Sequencing requires the subject to sequentially order the numbers presented by the interviewer. Scores of this test are based on each raw score and total raw score.Baseline and up to Week 24Pharmacokinetics (PK) of ASP0367 in plasma: AUC from the time of dosing to the start of next dosing interval (AUCtau)AUCtau will be recorded from the PK plasma samples collected.Up to Week 2PK of ASP0367 in plasma: maximum concentration (Cmax)Cmax will be recorded from the PK plasma samples collected.Up to Week 2Pharmacodynamics (PD) of ASP0367: Percent change from baseline in peroxisome proliferator-activated receptor (PPAR) delta target genes expression levels in bloodWhole blood cell samples will be collected to measure percent change in target gene expressions.Baseline and up to Week 4PD of ASP0367: Percent change from baseline in serum myostatin/follistatin ratioSerum samples will be collected to record myostatin.Baseline and up to Week 12Change from baseline in Performance of Upper Limb Module (PUL) (v2.0) assessment scoreThe PUL Assessment v2.0 includes a total of 23 upper limb test items, with the first entry item A used to define the starting functional level. The remaining 22 items are subdivided into 3 major dimension levels as following; shoulder level (6 items, maximum score of 12), elbow level (9 items, maximum score of 17) and distal level dimension (7 items, maximum score of 13). Positive change in scores indicates an improvement.Baseline and up to Week 12Change from baseline on Pediatric Quality of Life (PedsQL) Multidimensional Fatigue ScalePedsQL Multidimensional Fatigue Scale comprises the General Fatigue Scale (6 items), Sleep/Rest Fatigue Scale (6 items) and Cognitive Fatigue Scale (6 items). A 5-point response scale in each item is utilized (0 never a problem; 1 almost never a problem; 2 sometimes a problem; 3 often a problem; 4 almost always a problem). Negative change in scores indicates an improvement. This scale is based on the subject's age and will be assessed by both subject and parent or legal guardian.Baseline and up to Week 12Change from baseline in distance walked in 2 minutes assessed in metersThe 2-minute walk test (2MWT) is a measurement of endurance that assesses walking distance over 2 minutes. Only ambulatory subjects conduct the 2MWT in this study.Baseline and up to Week 12Percent change from baseline in the assisted 6 minute cycling test (a6MCT) maximal attained revolutionsThe a6MCT has been developed as a submaximal endurance test for both legs (leg-cycling) and arms (arm-cranking) for children who are expected to lose their walking ability in the near future or are wheel chair dependent. Only arm-cranking will be applied to this study.Baseline and up to Week 12Change from baseline in the a6MCT maximal attained revolutionsThe a6MCT has been developed as a submaximal endurance test for both legs (leg-cycling) and arms (arm-cranking) for children who are expected to lose their walking ability in the near future or are wheel chair dependent. Only arm-cranking will be applied to this study.Baseline and up to Week 12Change from baseline in fat fraction by magnetic resonance spectroscopy (MRS)The fat fraction by MRS will be assessed for the vastus lateralis (VL) and soleus (SOL) muscles.Baseline, Week 12 and Week 24False816TrueFalseFalseFalse NCT00873782U54AR056953University of North Carolina, Chapel HillOTHERSafety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy2015-01COMPLETEDMuscular dystrophies are inherited disorders in which the skeletal and heart muscles become progressively weaker, sometimes leading to permanent disability. Current treatments aim to control symptoms as much as possible, but there is no cure. Gene therapy, in which defective genes causing the disorder are corrected, is a potential treatment option and is in the process of being developed for muscular dystrophies. This study will determine the safety and feasibility of a particular delivery method for gene therapy that could be used in the future to treat people with muscular dystrophies. Only normal saline, and no active treatment, will be used in this study.INTERVENTIONALInclusion Criteria: * Diagnosis of Duchenne or Becker muscular dystrophy, as defined by progressive weakness with onset before the age of 21, X-linked inheritance, and reduced dystrophin (less than 3%) on muscle biopsy OR mutation in the dystrophin gene * Diagnosis of limb girdle muscular dystrophy, as defined by progressive weakness with onset before the age of 21, normal dystrophin on muscle biopsy OR proven mutation associated with one of the types of limb girdle dystrophy * Older than 21 years of age and preferably younger 30 years of age * Able to stand, independently or with assistance * Able to communicate with pertinent staff * Able to understand and willingly comply with the requirements of the study Exclusion Criteria: * Confirmed diagnosis of any other muscle disease * Previous compartment syndrome requiring surgical decompression * Previous venous or arterial thrombosis other than superficial venous thrombosis associated with intravenous catheter * Coagulopathy, including known diagnosis of bleeding diathesis, history of excessive bleeding on multiple occasions, or taking anticoagulant or platelet inhibitory medications * Systemic arterial or venous disease (e.g., Raynaud's, aortic coarctation or aneurysm) * Previous injury to selected limb with residual effect other than superficial scarring * Previous vascular surgery to selected limb * Previous compressive neuropathy (e.g., carpal tunnel syndrome in arm, peroneal palsy in leg) * Complex regional pain syndrome or other neurological cause of limb pain * Previous clinical diagnosis of congestive heart failure * Previous echocardiography showing ejection fraction less than 40% or ventricular dilation * Previous chest x-ray showing enlarged cardiac silhouette or pulmonary edema * History of rhabdomyolysis with worsening renal function * Creatinine greater than 1.7 mg/dL * Resting hypoxemia with SaO2 less than 90% on room air * Other significant heart, lung, or kidney disease that would compromise the body's capacity to handle a fluid load * Previous forced vital capacity less than 75% of age and height adjusted norm, in the absence of acute reversible pulmonary disease * Sickle cell disease (sickle cell anemia \[SS\] or sickle hemoglobin C disease \[SC\]) * Pregnant * Non-English speakerALL2024-10-18T00:00:002009-04-012009-04-012015-02-272009-04-022015-03-092009-032014-022014-02trueMuscular dystrophies are inherited disorders in which the skeletal and heart muscles become progressively weaker, sometimes leading to permanent disability. Current treatments aim to control symptoms as much as possible, but there is no cure. Gene therapy, in which defective genes causing the disorder are corrected, is a potential treatment option and is in the process of being developed for muscular dystrophies. This study will determine the safety and feasibility of a particular delivery method for gene therapy that could be used in the future to treat people with muscular dystrophies. Only normal saline, and no active treatment, will be used in this study.Muscular Dystrophies;Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Limb-Girdle Muscular DystrophyPHASE116Muscle, Nerve, or Vascular DamageNumber of Participants with all of the following three: 1. Unchanged Doppler ultrasound to assess venous and arterial damage pre-and post perfusion based on report 2. Without clinically significant changes in electrodiagnostic testing using standard neurographic techniques pre-and post perfusion:\>1 mSec change in baseline distal motor latency; \<75% baseline compound muscle action potential amplitude, \<75% baseline conduction velocity, sensory nerve action potential 3. Without clinically significant changes in Quantitative muscle testing (QMT) strength assessments pre-and post perfusion:\< 85% baselineMeasured within 2 weeks after limb perfusion procedureFalse21FalseFalseFalseFalse NCT02436720UCSCPULCatholic University of the Sacred HeartOTHERUpper Limb Assessment in Duchenne Muscular Dystrophy2015-05UNKNOWNThe literature on outcome measures assessing upper limbs in Duchenne muscular dystrophy (DMD) is quite scanty. While there have been considerable advances for ambulant DMD boys, no prospective study has so far been devoted to outcome measures in non ambulant patients, with increasing complaints from families and patients. This information appears to be highly important not only for a better understanding of the progression of the disease but also for possible enrollment of patients in future trials. The aim of this project is to identify outcome measures for non ambulant patients in an Italian population of DMD patients. At least 200 non ambulant DMD boys and adults will be included in the study. All patients will be assessed using the newly developed Performance of Upper limb (PUL) test. This measure will be used at baseline and 6 and 12 months after baseline. This will allow to monitor possible changes over time and the rate of changes in patients with different level of ability and age. As part of this study the investigators will also correlate possible changes in upper limb function with other measures of care and function such as the EK scale. The investigators aim to assess the suitability of the individual measures in a large number of patients, trying to establish whether whole scales or individual items appear to be relevant across ages and level of abilities. The investigators also aim to assess the suitability of the selected measures in a multicentric setting and the quantity of training required The data collected will also be analysed using Rasch analysis in order to improve the statistical properties of the measures used.OBSERVATIONALInclusion Criteria: * proven DMD Exclusion Criteria: * severe mental retardationMALE2024-10-18T00:00:002015-04-302015-05-062015-05-062015-05-072015-05-072013-012013-032015-05falseThe literature on outcome measures assessing upper limbs in Duchenne muscular dystrophy (DMD) is quite scanty. While there have been considerable advances for ambulant DMD boys, no prospective study has so far been devoted to outcome measures in non ambulant patients, with increasing complaints from families and patients. This information appears to be highly important not only for a better understanding of the progression of the disease but also for possible enrollment of patients in future trials. The aim of this project is to identify outcome measures for non ambulant patients in an Italian population of DMD patients. At least 200 non ambulant DMD boys and adults will be included in the study. All patients will be assessed using the newly developed Performance of Upper limb (PUL) test. This measure will be used at baseline and 6 and 12 months after baseline. This will allow to monitor possible changes over time and the rate of changes in patients with different level of ability and age. As part of this study the investigators will also correlate possible changes in upper limb function with other measures of care and function such as the EK scale. The investigators aim to assess the suitability of the individual measures in a large number of patients, trying to establish whether whole scales or individual items appear to be relevant across ages and level of abilities. The investigators also aim to assess the suitability of the selected measures in a multicentric setting and the quantity of training required The data collected will also be analysed using Rasch analysis in order to improve the statistical properties of the measures used.Duchenne Muscular Dystrophy300assessment of upper limb (PUL)the test evaluates performance of upper limbs by providing a score for shoulder, elbow and distal domain and total score2 yearsFalse435FalseFalseTrueTrue NCT01826474PRO045-CLIN-01BioMarin PharmaceuticalINDUSTRYPhase IIb Study of PRO045 in Subjects With Duchenne Muscular Dystrophy2017-12TERMINATEDThe purpose of the study is to see whether PRO045 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 45 in the DNA for the dystrophin protein.INTERVENTIONALInclusion Criteria: 1. Duchenne muscular dystrophy resulting from a mutation correctable by treatment with PRO045 confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or HRMCA (High-Resolution Melting Curve Analysis), and correctable by PRO045-induced DMD exon 45 skipping in cultured skin-derived myo-converted fibroblasts. 2. Ambulant boys aged at least 5 years on the day of first dosing able to walk for at least 230 meters in the 6 minute walking distance (6MWD) test at first screening visit and also at the baseline visit. In addition, 2 of the 3 pre-treatment 6MWD tests (screen 1, screen 2, baseline) must be within +/-30 metres of each other prior to first PRO045 administration. 3. Adequate quality for biopsy (confirmed with MRI) of the lateral head of the gastrocnemius muscle. An alternative muscle may be considered for biopsy but only following discussion between the Principal Investigator and the Prosensa Medical Monitor. 4. Life expectancy of at least 3 years after inclusion in the study. 5. Glucocorticosteroid use which is stable for at least 3 months prior to first PRO045 administration. Subjects must have been receiving glucocorticosteroids for at least 6 months prior to the first PRO045 administration. 6. Willing and able to adhere to the study visit schedule and other protocol requirements. 7. Written informed consent signed (by parent(s)/legal guardian and/or the subject, according to the local regulations). 8. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category. Exclusion Criteria: 1. Known presence of dystrophin in ≥5% of fibres in a pre-study diagnostic muscle biopsy (i.e. historic muscle biopsy taken prior to written informed consent for this study). 2. Current or history of liver disease or impairment. 3. Current or history of renal disease or impairment. 4. At least two aPTT above ULN within the last month. 5. Screening platelet count below the lower limit of normal (LLN). 6. Acute illness within 4 weeks prior to first dose of PRO045 which may interfere with the study assessments. 7. Severe mental retardation or behavioural problems which in the opinion of the investigator prohibits participation in this study. 8. Severe cardiomyopathy which in the opinion of the investigator prohibits participation in this study. If a subject has a left ventricular ejection fraction \<45% at screening, the investigator should discuss inclusion of the subject with the Medical Monitor. 9. Expected need for daytime mechanical ventilation within the next year. 10. Use of anticoagulants, antithrombotics or antiplatelet agents. 11. Use of idebenone or other forms of coenzyme Q10 within 1 month prior to the start of the screening for the study. 12. Use of nutritional or herbal supplements which, in the opinion of the investigator, may influence muscle performance, within 1 month of the study. 13. Use of any other investigational product or participation in another trial with an investigational product, within 6 months prior to the start of the screening for the study.MALE2024-10-18T00:00:002013-03-202013-04-032017-12-062013-04-082017-12-082013-012016-08-312016-08-31trueThe purpose of the study is to see whether PRO045 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 45 in the DNA for the dystrophin protein.Duchenne Muscular DystrophyPHASE1PHASE215Change from baseline in 6 minute walk testafter 48 weeks of treatment phaseMuscle functionafter 48 weeks of treatment phaseMuscle strengthafter 48 weeks treatment phasePerformance of upper limbafter 48 weeks of treatment phaseFunctional outcomes questionnaireafter 48 weeks of treatmentSafetyafter 48 weeks of treatment phaseFalse518TrueFalseFalseFalse NCT056392572021-003784-94Rigshospitalet, DenmarkOTHERTreatment of Myotonia - Lamotrigine Versus Namuscla2022-12RECRUITINGIn this clinical study, the aim is to investigate whether there is a difference in treatment of myotonia using two drugs. A difference there can justify the significantly higher cost when treated by Namuscla versus Lamotrigine. According to the current corona pandemic, the investigators designed an app to use for data collection in the study. The app also ensures that patients who live far from the clinic more easily can participate.INTERVENTIONALInclusion Criteria: 1. Capable adult women and men (age ≥ 18 years). 2. Diagnosed with Myotonia Congenita (Becker and Thomsen type), Paramyotonia Congenita, or Hyperkalemic periodic paralysis. 3. Myotonia under treatment or which significantly limits the daily activities (MBS\> 2). Exclusion Criteria: 1. Allergy to lamotrigine, mexiletine, or the inactive ingredients in trial medication. 2. Disease, which is affected by trial medication such as heart disease (ischemia and arrhythmia), epilepsy, and significant renal or hepatic failure. 3. Treatment that, in the opinion of the project manager, can affect the study result - medication with significant interactions with trial medication. 4. In case of smoking, start or cessation during the study. 5. Pregnant or breastfeeding during the study period. Fertile women with a positive pregnancy test at the time of entry into the trial, or who do not use safe contraception during the project period.ALL2024-10-18T00:00:002022-10-042022-12-052022-12-052022-12-062022-12-062022-12-052024-04-012024-04-01trueFalseFalseIn this clinical study, the aim is to investigate whether there is a difference in treatment of myotonia using two drugs. A difference there can justify the significantly higher cost when treated by Namuscla versus Lamotrigine. According to the current corona pandemic, the investigators designed an app to use for data collection in the study. The app also ensures that patients who live far from the clinic more easily can participate.Non-Dystrophic MyotoniaNA32Change in Myotonia Behavior Scale (MBS)Each participant chose one of six statements about how myotonia affect their daily living. MBS is register once daily in a week. 1 is no symptoms of myotonia, 6 is invalidating symptoms of myotonia. Measured without treatment and in the last week of treatment.baseline and week 8Change in Eye-myotoniaEye opening test (time in seconds): Eyes are pinched with maximum strength for 5 sec, then opened ASAP. Repeated 5 times. Longer times measured more server myotonia in eye muscles.baseline and week 8Change in hand-myotoniaHand opening test (time in seconds): Right hand is closed with maximum strength for five seconds before opened as soon as possible. Time is measured in seconds. Longer times measured more server myotonia in hand muscles. Repeated 5 times.baseline and week 8Change in time-up-and-go-test (TUG)TUG - time-up\&go (time in seconds): After 10 minutes rest in a chair, participants get up, walk 3 meters, turn around, returning to the chair performed in regular pace. Longer times measured more server myotonia in legs muscles.baseline and week 8Change in Individualized Neuromuscular Quality of Life Questionnaire (INQoL)A questionnaire for patients with neuromuscular diseases measuring quality of life and the impact of the disease on everyday life. The INQoL is composed of 45 items investigating 4 dimensions, subdivided into 11 sub-dimensions. The scoring of the INQoL generates a profile (0-100). Higher score scores = higher impact of disorders. The form is translated in Danish.baseline and week 8Days with Side effects (SE)Side effects are noted daily. Participants have three opportunities they can 1) cross no SE, 2) cross a specific SE on an alphabetically list containing all known SE for both drugs, or 3) they can describe a AE under other.through study completion, in total 123 daysChange in Side Effect Scale (SE)Each participant chose one of six statements about how side effects affect their daily living. SES is register once daily in a week. 1 is no side effects, 6 is invalidating side effects.baseline and week 8False18FalseFalseFalseFalse NCT04371666FGCL-3019-093FibroGenINDUSTRYPhase 3 Trial of Pamrevlumab or Placebo With Systemic Corticosteroids in Participants With Non-ambulatory Duchenne Muscular Dystrophy (DMD)2024-02TERMINATEDTo evaluate the efficacy and safety of pamrevlumab versus placebo in combination with systemic corticosteroids in participants with non-ambulatory Duchenne muscular dystrophy (age 12 years and older).INTERVENTIONALInclusion Criteria: 1. Males at least 12 years of age, non-ambulatory at screening initiation 2. Written consent by participant and/or legal guardian as per regional/ country and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements 3. Male participants with partners of childbearing potential must use contraception during the conduct of the study, and for 12 weeks after the last dose of study drug. 4. Medical history includes diagnosis of DMD and confirmed Duchenne mutation using a validated genetic test 5. Brooke Score for Arms and Shoulders ≤5 6. Able to undergo MRI test for the upper arm extremities (Biceps Brachii muscle) and cardiac muscle 7. Able to perform spirometry 8. Average (of Screening and Day 0) percent predicted forced vital capacity (FVC) between 45 and 85, inclusive 9. Left ventricular ejection fraction ≥50% as determined by local cardiac MRI read at screening or within 3 months prior to randomization (Day 0) 10. If participants have a history of cardiomyopathy, then participant must be on a stable dose of cardiomyopathy/ heart failure medications (for example, angiotensin converting enzyme inhibitors, aldosterone receptors blockers, angiotensin-receptor blockers, and betablockers) for at least 1 month prior to screening. If participants have no diagnosis of cardiomyopathy, then no dose of cardiomyopathy/heart failure medication is required for eligibility. 11. On a stable dose of systemic corticosteroids for a minimum of 6 months, with no substantial change in dosage for a minimum of 3 months (except for adjustments for changes in body weight) prior to screening. Corticosteroid dosage should be in compliance with the DMD Care Considerations Working Group recommendations (for example, prednisone or prednisolone 0.75 mg/kg per day or deflazacort 0.9 mg/kg per day) or stable dose. A reasonable expectation is that dosage and dosing regimen would not change significantly for the duration of the study. 12. Agreement to receive annual influenza vaccinations during the course of the study. 13. Adequate renal function: cystatin C ≤1.4 mg/liter (L) 14. Adequate hematology and electrolytes parameters: 1. Platelets \>100,000/microliter (μL) 2. Hemoglobin \>12 grams (g)/deciliter (dL) 3. Absolute neutrophil count \>1500/μL 4. Serum calcium (Ca), potassium (K), sodium (Na), magnesium (Mg) and phosphorus (P) levels are within a clinically accepted range for DMD participants. 15. Adequate hepatic function: 1. No history or evidence of liver disease 2. Gamma glutamyl transferase (GGT) ≤3x upper limit of normal (ULN) 3. Total bilirubin ≤1.5xULN Exclusion Criteria: 1. Previous exposure to pamrevlumab 2. BMI ≥40 kg/square meter (m\^2) or weight \>117 kg 3. History of: 1. allergic or anaphylactic reaction to human, humanized, chimeric or murine monoclonal antibodies 2. hypersensitivity to study drug or any component of study drug 3. hypersensitivity reaction to Gadolinium-based Contrast Agents (GBCA) required for MRI acquisition 4. Exposure to any investigational drug (for DMD or not), in the 30 days prior to screening initiation or use of approved DMD therapies (for example, eteplirsen \[exondys 51\], ataluren, golodirsen \[vyondys 53\], casimersen \[amondys 45\]) within 5 half-lives of screening, whichever is longer, with the exception of the systemic corticosteroids, including deflazacort 5. Severe uncontrolled heart failure (NYHA Classes III-IV), or renal dysfunction, including any of the following: 1. Need for intravenous diuretics or inotropic support within 8 weeks prior to screening 2. Hospitalization for a heart failure exacerbation or arrhythmia within 8 weeks prior to screening 3. Participants with glomerular filtration rate (GFR) of less than 30 mL/minute (min)/1.73 m\^2 or with other evidence of acute kidney injury as determined by investigator 6. Arrhythmia requiring anti-arrhythmic therapy 7. Requires ≥16 hours continuous ventilation 8. Hospitalization due to respiratory failure within the 8 weeks prior to screening 9. Poorly controlled asthma or underlying lung disease such as bronchitis, bronchiectasis, emphysema, recurrent pneumonia that in the opinion of the investigator might impact respiratory function 10. The Investigator judges that the participant will be unable to fully participate in the study and complete it for any reason, including inability to comply with study procedures and treatment, or any other relevant medical or psychiatric conditionsMALE2024-10-18T00:00:002020-04-292020-04-292024-02-132020-05-012024-03-122020-08-102023-02-132023-08-17trueTrueFalseTo evaluate the efficacy and safety of pamrevlumab versus placebo in combination with systemic corticosteroids in participants with non-ambulatory Duchenne muscular dystrophy (age 12 years and older).Duchenne Muscular DystrophyPHASE398Change From Baseline in the Total Score of Performance of Upper Limb (PUL) 2.0 Version at Week 52The PUL module is an observer-administered performance battery of upper extremity mobility tasks for the shoulder (upper, 6 items, 12 points), elbow (middle, 9 items, 17 points) and wrist/hand (distal, 7 items, 13 points). Higher scores indicate higher level of function. Total score ranges from 0-42 points and is the sum of the scores for the 3 subscales. Analysis was done using a random coefficient model (RCM), which included fixed effects of time (as a continuous variable), treatment, and treatment-by-time interaction, with baseline ordinal PUL entry score as covariate.Baseline, Week 52Change From Baseline in Percent Predicted Forced Vital Capacity (ppFVC) at Week 52, Assessed by SpirometryFVC is a standard pulmonary function test used to quantify respiratory muscle weakness. FVC was the volume of air that can forcibly be blown out after full inspiration in the upright position, measured in liters. Predicted FVC is based on a formula using sex, age and height of a person, and is an estimate of healthy lung capacity. Percent of predicted FVC = (observed value)/(predicted value) \* 100%. Analysis was done using an RCM, which included fixed effects of time (as a continuous variable), treatment, and treatment-by-time interaction, with baseline value as covariate.Baseline, Week 52Change From Baseline in the Grip Strength of the Hands at Week 52, Assessed by Hand Held Myometry (HHM)The HHM was used to measure distal upper arm strength (grip strength). Data has been presented by dominant and non-dominant hand. Grip Strength was analyzed using a MMRM with fixed effects for treatment, visit (as a factor), treatment-by-visit interaction, and covariates (baseline values).Baseline, Week 52Change From Baseline in Left Ventricular Ejection Fraction Percentage (LVEF %) at Week 52, Assessed by Magnetic Resonance Imaging (MRI)LVEF% is an important measure of cardiac function. LVEF is a fraction of blood (in percent) pumped out of the left ventricle of the heart (the main pumping chamber). The LVEF% was analyzed using an analysis of covariance (ANCOVA) model with treatment and baseline value.Baseline, Week 52Change From Baseline in Percent Predicted Peak Expiratory Flow (ppPEF) at Week 52, Assessed by SpirometryThe ppPEF is a measure of the maximal or peak flow produced during an exhalation with maximal effort and, as such, is the most effort-dependent measure of lung function. The ppFEV1 was analyzed using an RCM including fixed effects of time, treatment, and treatment-by-time interaction, with baseline as covariate.Baseline, Week 52False12TrueFalseFalseTrue NCT05933057DSC/14/2357/50ItalfarmacoINDUSTRYEfficacy, Safety and Tolerability of Givinostat in Non-ambulant Patients With Duchenne Muscular Dystrophy2024-09RECRUITINGThis is a randomised, double-blind, placebo-controlled, multicentre study to evaluate the efficacy, safety, and tolerability of givinostat in non-ambulant male paediatric (aged 9 to \<18 years) patients with DMD. 138 patients will be randomised 2:1 to givinostat or placebo and will be treated for 18 months. * Planned screening duration: approximately 4 weeks (±14 days) * Planned treatment duration: 18 months (approximately 72 weeks) * Planned follow-up duration: 4 weeks (±7 days) (for patients not participating in the long-term safety study) * Total duration of study participation: up to 83 weeks (ie, 20-21 months)INTERVENTIONALInclusion Criteria: Patients must satisfy all the following criteria: 1. Children and adolescent males aged ≥ 9 to \<18 years at screening (patients ≥ 18 years of age at screening will not be enrolled into the study) 2. Are able to give informed assent and/or consent in writing signed by the patient and/or parent/legal guardian (according to local regulations) 3. A genetic diagnosis of DMD 4. Non-ambulant, defined as being wheelchair bound and: 1. Unable to perform the 10-meter walk/run test (10MWT), or 2. Unable to complete the 10MWT in 30 seconds or less, without any support or devices 5. Performance of the Upper Limb test (PUL version 2.0) entry item scores 3 to 6 6. If on medication for DMD-associated cardiomyopathy (eg, ACE inhibitor, β-blocker, diuretics), stable for ≥1 month immediately prior to start of study treatment, if any 7. Stable corticosteroids, defined as: 1. Receiving systemic corticosteroids for a minimum of 6 months immediately prior to start of study treatment 2. No significant change in dose or dosing regimen (except for adjustments due to body weight change) for a minimum of 6 months immediately prior to start of study treatment 8. Willing to use adequate contraception. Effective contraceptive methods must be used from randomisation visit through 3 months after the last dose of study drug, and include the following: 1. True abstinence (ie, absence of any sexual intercourse), when in line with the preferred and usual lifestyle of the patient. Periodic abstinence (eg, calendar, ovulation, post-ovulation, and symptothermal methods) and withdrawal are not acceptable methods of contraception 2. Condom with spermicide and the female partner must use an effective method of contraception, such as an oral, transdermal, injectable or implanted hormonal contraceptive; intrauterine device; bilateral tubal occlusion, or a diaphragm or a barrier method of contraception in conjunction with spermicidal jelly such as for example cervical cap with spermicide jelly. Exclusion Criteria: Patients will be excluded from the study if they satisfy any of the following criteria: 1. Exposure to another investigational drug within 3 months prior to start of study treatment. 2. Have exposure to any dystrophin restoration product (eg, Ataluren, Exon skipping) within 6 months prior to the start of study treatment 3. Having received any gene therapy (eg, AAV Micro-dystrophin delivery) prior to start of study treatment 4. Use of any pharmacologic treatment or supplement (other than corticosteroids), that might have had an effect on muscle strength or function within 3 months prior to the start of study treatment (eg, growth hormone); vitamin D, calcium and any other supplements will be allowed 5. Use of testosterone, unless used as a replacement therapy for the treatment of delayed puberty. The testosterone dose and regimen should be stable within 6 months prior to the start of study treatment, and circulating testosterone levels should be within the normal ranges for the patient's age 6. Elbow-flexion contractures \>30° in the dominant arm 7. Inability to perform consistent PUL 2.0 measurement within ±2 points without shoulder domain or within ±3 points with shoulder domain during paired testing at screening 8. Forced Vital Capacity % of predicted \<40% 9. Requirement for daytime ventilator assistance (Note: Night ventilator assistance and use of bi-level positive airway pressure therapy is allowed) 10. Episode of respiratory failure within the 8 weeks prior to screening 11. Symptomatic cardiomyopathy or heart failure and/or left ventricular ejection fraction \<45% 12. Baseline corrected QT interval using Fredericia's formula (QTcF) \>450 msec (as the mean of 3 consecutive readings 5 minutes apart) or history of additional risk factors for torsades de pointes (eg, heart failure, hypokalaemia, or family history of long QT syndrome) 13. Major surgical procedure (including scoliosis surgery) planned within 1 year of the start of study treatment 14. Poorly controlled asthma or underlying lung disease such as bronchitis, bronchiectasis, emphysema, recurrent pneumonia that in the opinion of the Investigator might impact respiratory function 15. Platelets, white blood cells, and/or haemoglobin \< lower limit of normal (LLN) at screening (Note: for abnormal screening laboratory test results \[\<LLN\], the platelets count, white blood cell, and haemoglobin will be repeated once; if the repeat test result is still \<LLN, the patient should be excluded) 16. Fasting triglycerides \>300 mg/dL (3.42 mmol/L) at screening (Note: if the value is \>300 mg/dL, the triglycerides will be repeated once; if the repeated test result is still \>300 mg/dL, the patient should be excluded) 17. Current or history of liver disease or impairment, including but not limited to a baseline elevated total bilirubin (ie, \>1.5 × upper limit of normal \[ULN\]), unless secondary to Gilbert disease or pattern consistent with Gilbert disease 18. Inadequate renal function, as defined by serum Cystatin C result \>2 × ULN (Note: if the value is \>2 × ULN, the serum Cystatin C will be repeated once; if the repeated test result is still \>2 × ULN, the patient should be excluded) 19. Positive test for hepatitis B surface antigen, hepatitis C antibody, or human immunodeficiency virus at screening 20. Hypersensitivity to any component of study medication 21. Sorbitol intolerance or malabsorption, or have the hereditary form of fructose intolerance 22. Diagnosis of other uncontrolled neurological diseases or presence of relevant uncontrolled somatic disorders that are not related to DMD, based on Investigator judgement 23. Psychiatric illness or social situations rendering the potential patient unable to understand and comply with the muscle function tests and/or with the study protocol procedures, based on Investigator judgement 24. Have contraindications to MRI scan (eg, claustrophobia, metal implants, or uncontrolled seizure disorder), based on Investigator's judgement.MALE2024-10-18T00:00:002023-06-162023-06-272024-09-032023-07-062024-09-192024-02-192028-022028-02trueFalseFalseThis is a randomised, double-blind, placebo-controlled, multicentre study to evaluate the efficacy, safety, and tolerability of givinostat in non-ambulant male paediatric (aged 9 to \<18 years) patients with DMD. 138 patients will be randomised 2:1 to givinostat or placebo and will be treated for 18 months. * Planned screening duration: approximately 4 weeks (±14 days) * Planned treatment duration: 18 months (approximately 72 weeks) * Planned follow-up duration: 4 weeks (±7 days) (for patients not participating in the long-term safety study) * Total duration of study participation: up to 83 weeks (ie, 20-21 months)Duchenne Muscular DystrophyPHASE3138Change of Performance of Upper Limb 2.0 (PUL) total score at 18 months of treatment of givinostat compared to placebo group.The PUL examines 3 major "dimensions" of upper extremity function: shoulder, middle, and distal functions. It includes 22 scored items; a score of 42 (12 for shoulder; 17 for mid-level, and 13 for distal) indicates the highest level of independent function and 0 the lowest.Baseline and 18 monthsChange from baseline of Peak Expiratory Flow percent predicted (PEF%p) at 18 months of treatment of givinostat compared to placebo groupBaseline and 18 monthsChange from baseline of Forced Vital Capacity percent predicted (FVC%p) at 18 months of treatment of givinostat compared to placebo groupBaseline and 18 monthsCumulative loss of PUL total score over 18 months of treatment of givinostat compared to placebo group.Baseline to 18 monthsType, incidence, and severity of treatment-emergent adverse eventsBaseline to 18 monthsProportion of patients experiencing treatment-emergent adverse eventsBaseline to 18 monthsChange from baseline vital signs and clinical laboratory testsBaseline and 18 monthsChange from baseline electrocardiogram and echocardiogramBaseline and 18 monthsTime to assisted ventilation and rate of respiratory infection including duration, severity of respiratory infection and use of antibiotics, of givinostat compared to placebo group.Baseline to 18 monthsFalse917FalseFalseFalseFalse NCT050196252014P001727Massachusetts General HospitalOTHERBiomarker Development for Muscular Dystrophies2023-10RECRUITINGCurrent methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.OBSERVATIONALInclusion Criteria: * Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing. * Able to provide informed consent or assent for participation in the study. * Demographic characteristics for single biofluid collection: Males and females age 5 years and older. * Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1. * Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years. Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older. Exclusion Criteria: * Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive. * Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care. * Other. Inability or unwillingness of the subject to give written informed consent.ALL2024-10-18T00:00:002021-08-162021-08-202023-10-042021-08-252023-10-062015-02-202026-062027-06falseFalseFalseCurrent methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.Myotonic Dystrophy;Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Facioscapulohumeral Muscular Dystrophy465Extracellular RNA in biofluidsThe extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity based on clinical measurements of muscle power, electrocardiogram parameters, pulmonary function test parameters, muscle tissue composition using quantitative ultrasound and electrical impedance myography, and muscle tissue specimens.6 yearsTrue5FalseFalseFalseFalse NCT05185622VBP15-006Santhera PharmaceuticalsINDUSTRYA Study to Assess Vamorolone in Boys Ages 2 to <4 Years and 7 to <18 Years With Duchenne Muscular Dystrophy (DMD)2024-10COMPLETEDThis Phase II study is an open-label, multiple dose study to evaluate the safety, tolerability, PK, PD, clinical efficacy, behavior and neuropsychology, and physical functioning vamorolone over a treatment period of 12 weeks in steroid-naïve boys ages 2 to \<4 years, and glucocorticoid-treated and currently untreated boys ages 7 to \<18 years with DMD.INTERVENTIONALInclusion Criteria: 1. Subject's parent(s) or legal guardian(s) has (have) provided written informed consent and Health Insurance Portability and Accountability Act (HIPAA) authorization, where applicable, prior to any study-related procedures; participants will be asked to give written or verbal assent according to local requirements; 2. Subject has a centrally confirmed (by TRiNDS central genetic counselor\[s\]) diagnosis of DMD, defined as: 1. Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD, OR 2. Identifiable mutation within the DMD gene (deletion/duplication of one or more exons), where reading frame can be predicted as 'out-of-frame,' and clinical picture consistent with typical DMD, OR 3. Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein (i.e., nonsense mutation, deletion/duplication leading to a downstream stop codon), with a clinical picture consistent with typical DMD; 3. Subject is male, 2 to \<4 years or 7 to \<18 years of age at time of enrollment in the study; 4. If 7 to \<18 years of age and currently taking standard of care glucocorticoids for treatment of DMD, subject has been taking standard of care glucocorticoids at stable dose for at least 3 months prior to enrollment in the study, and will continue the same stable dose regimen through the date of the Baseline Day -1 Visit. \[Note: Inhaled and/or topical glucocorticoids are permitted if last use is at least 4 weeks prior to enrollment or if administered at stable dose beginning at least 4 weeks prior to enrollment and anticipated to be used at the stable dose regimen for the duration of the study\]; 5. If 7 to \<18 years of age, and not currently glucocorticoid-treated, subject has not received oral glucocorticoids or other oral immunosuppressive agents for at least 3 months prior to enrollment. \[Note: Inhaled and/or topical glucocorticoids are permitted if last use is at least 4 weeks prior to enrollment or if administered at stable dose beginning at least 4 weeks prior to enrollment and anticipated to be used at the stable dose regimen for the duration of the study\]; 6. Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant, in the opinion of the Investigator. \[Notes: Serum gamma glutamyl transferase (GGT), creatinine, and total bilirubin all must be ≤ upper limit of the normal range at the Screening Visit. An abnormal vitamin D level that is considered clinically significant will not exclude a subject from participating\]; 7. Subject has evidence of chicken pox immunity as determined by: * Presence of IgG antibodies to varicella, as documented by a positive test result from the local laboratory from blood collected during the Screening Period; OR * Documentation, provided at the Screening Visit, that the subject has had 2 doses of varicella vaccine, with or without serologic evidence of immunity; the second of the 2 immunizations must have been given at least 14 days prior to assignment to a dose group; 8. Subject and parent(s)/guardian(s) are willing and able to comply with scheduled visits, study drug administration plan, and study procedures. Exclusion Criteria: 1. Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; 2. Subject has current or history of chronic systemic fungal or viral infections; 3. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), or mexrenone (mexrenoate potassium) within 4 weeks prior to enrollment; 4. Subject has a history of primary hyperaldosteronism; 5. Subject has evidence of symptomatic cardiomyopathy \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; 6. If 2 to \<4 years of age, subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 1 month cumulative, with last use at least 3 months prior to enrollment, will be considered for eligibility on a case-by-case basis, unless discontinued for intolerance. Inhaled and/or topical glucocorticoids are permitted if last use is at least 4 weeks prior to enrollment or if administered at stable dose beginning at least 4 weeks prior to enrollment and anticipated to be used at the stable dose regimen for the duration of the study\]; 7. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents; 8. Subject has used idebenone within 4 weeks prior to enrollment; 9. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 10. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; 11. Subject is taking (or has taken within 4 weeks prior to enrollment) herbal remedies and supplements which can impact muscle strength and function (e.g., Co-enzyme Q10, creatine, etc); 12. Subject is taking (or has taken within 3 months prior to enrollment) any medication indicated for DMD, including Exondys51, Exondys53, Exondys45, Viltepso and Translarna; 13. Subject has been administered a live attenuated vaccine within 14 days prior to the first dose of study medication; 14. Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to enrollment; 15. Subject has previously been enrolled in the VBP15-006 study or any other vamorolone study.MALE2024-10-18T00:00:002021-11-092021-12-222024-10-112022-01-112024-10-162022-03-212024-07-162024-07-16trueTrueFalseThis Phase II study is an open-label, multiple dose study to evaluate the safety, tolerability, PK, PD, clinical efficacy, behavior and neuropsychology, and physical functioning vamorolone over a treatment period of 12 weeks in steroid-naïve boys ages 2 to \<4 years, and glucocorticoid-treated and currently untreated boys ages 7 to \<18 years with DMD.Duchenne Muscular DystrophyPHASE254Change in Body Mass Index (BMI) from baseline to Week 12Body Mass Index is a measure of weight adjusted for height.12 weeksChange in Body Mass Index (BMI) z-score from baseline to Week 12Body Mass Index z-scores is a measure of relative weight adjusted for child age and sex.12 weeksChange in Weight from baseline to each of the scheduled on treatment and post-treatment assessment time pointsBody weight will be assessed at each of the scheduled time points.Week 2, Week 6, Week 12, Week 16Change in Height from baseline to Week 12Standing height will be assessed for subjects ages 2-\<4 years; height calculated from ulnar length in subjects ages 7-\<18.Week 12Change in Height z score from baseline to Week 12Standing height will be assessed for subjects ages 2-\<4 years; height calculated from ulnar length in subjects ages 7-\<18.Week 12Change in sitting blood pressure from baseline to each of the scheduled on-treatment and post-treatment assessment time pointsSitting blood pressure will be assessed at scheduled on-treatment and post-treatment time points.Day 1, Week 2, Week 6, Week 12, Week 16Change in heart rate from baseline to each of the scheduled on-treatment and post-treatment assessment time pointsHeart rate will be assessed at scheduled on-treatment and post-treatment time points.Day 1, Week 2, Week 6, Week 12, Week 16Change in respiratory rate from baseline to each of the scheduled on-treatment and post-treatment assessment time pointsRespiratory rate will be assessed at scheduled on-treatment and post-treatment time points.Day 1, Week 2, Week 6, Week 12, Week 16Change in body temperature from baseline to each of the scheduled on-treatment and post-treatment assessment time pointsBody temperature will be assessed at scheduled on-treatment and post-treatment time points.Day 1, Week 2, Week 6, Week 12, Week 16Number of participants with Cushingoid featuresCushingoid features measured by the presence of buffalo hump obesity, striations, adiposity, hypertension, diabetes, or osteoporosis. Change from baseline to each of the scheduled on-treatment and post-treatment assessment time points.Week 6, Week 12, Week 16Number of participants with abnormal blood laboratory test resultsBlood samples will be collected from subjects for the analysis of clinical chemistry parameters, including White Blood cells (WBCs), Red Blood Cells, (RBCs), hemoglobin, Platelets, Sodium, Potassium, Chloride, Calcium, Inorganic Phosphorus, Blood Urea Nitrogen (BUN), Creatinine, Total Protein, Albumin, Bicarbonate, Lactate Dehydrogenase (LDH), Cystatin C, Total Bilirubin, Uric Acid, Glucose, Alkaline Phosphatase (ALP), Gamma Glutamyl Transferase (GGT), Aspartate aminotransferase (AST), Alanine aminotransferase (ALT), Creatine kinase (CK), Lipase, Amylase, Vitamin D, Triglycerides, Total cholesterol, Low Density Lipoprotein (LDL) and High density Lipoprotein (HDL). Change from baseline to each of the scheduled on treatment and post-treatment time points will be assessed.Day 1, Week 6, Week 12, Week 16Number of participants with abnormal urine laboratory test resultsUrine biomarkers will include protein, glucose, ketones, leukocyte esterase, White Blood Cells (WBCs), Red Blood Cells, (RBCs) and bacteria and will be assessed by dipstick and microscopic analysis. Change from baseline to each of the scheduled on treatment and post-treatment time points will be assessed.Day 1, Week 6, Week 12, Week 16Number of participants with abnormal ECGs12-lead 1electrocardiogram (ECG) as recorded after subject has rested quietly in a supine position for at least 5 minutes. ECG components are QRS duration, PR \[PQ\] interval, RR interval, QT interval and QTc. Change from baseline to Week 12Week 12Number of participants with GlaucomaGlaucoma as by measured by ocular pressure.Week 12 assessments compared to baseline.12 weeksNumber of participants with CataractsCataracts as measured by the presence of partial or complete opacity of the crystalline lens of one or both eyes. Week 12 assessments compared to baseline.12 weeksNumber of Participants with Adverse Events as Assessed by Common Terminology Criteria for Adverse Events version 4.03 (CTCAE v4.03)An Adverse Event is any untoward medical occurrence in a subject and does not necessarily have to have a causal relationship with the intervention. Pre-existing conditions that worsen during the study are to be reported as AEs.12 weeksArea under the Curve infinity (AUCinf) following oral administrationThe pre-dose and post-dose plasma concentration measurements of vamorolone at Day 1 and Week 2 will be used for comparison of drug exposures by age group, dose level, and glucocorticoid treatment at entry (7 to \<18 years only).Day 1, Week 2Change in morning cortisol concentration from baseline to Week 12Adrenal suppression is directly associated with risk of adrenal crisis, delay of puberty and stunting of growth. Measurement of morning cortisol concentrations will reflect the degree of adrenal suppression. Cortisol measures falling below 3.6 µg/dL (or 100 nM) will be considered to be indicative of the development of adrenal suppression.Week 12Change in fasting serum concentration of glucose from baseline to Week 12Glucocorticoids cause both acute and chronic insulin resistance, with serum elevations of both insulin and glucose. Measures of hyperinsulinemia and hyperglycemia are accepted measures of insulin resistance. Fasting glucose will be measured at baseline and Week 12.Week 12Change in fasting serum concentration of insulin from baseline to Week 12Glucocorticoids cause both acute and chronic insulin resistance, with serum elevations of both insulin and glucose. Measures of hyperinsulinemia and hyperglycemia are accepted measures of insulin resistance. Fasting insulin will be measured at baseline and Week 12.Week 12Change in serum concentration of hemoglobin A1c (HbA1c) from baseline to Week 12Glucocorticoids cause both acute and chronic insulin resistance, with serum elevations of both insulin and glucose. Measures of hyperinsulinemia and hyperglycemia are accepted measures of insulin resistance. Hemoglobin A1c (HbA1c) will be measured at baseline and Week 12.Week 12False217FalseFalseFalseFalse NCT02194725999914149National Institutes of Health Clinical Center (CC)NIHWhere Does Hope Fit In? The Relationship Between Hope, Uncertainty, and Coping Efficacy in Mothers of Children With Duchenne/Becker Muscular Dystrophy2017-07-07COMPLETEDBackground: - Children with Duchenne/Becker Muscular Dystrophy (DBMD) slowly lose muscle function. They usually die at a young age. Some mothers adapt to the demands of caring for a child with this disease better than others. Studies show that a person s hope may positively affect how they cope and adapt. Researchers want to find out more about this. They want to develop ways to improve caregivers overall wellness. Objective: - To study the relationships between uncertainty, hope, and coping ability in mothers of children with DBMD. Eligibility: - Women in the United States 18 years and older. They must be biological mothers of a living child with DBMD and be able to answer a survey in English. Design: * This study is part of a larger study that examines the well-being of mothers with sons who have DBMD. * Participants will take a questionnaire. The questionnaire can be done on paper or on a computer. It will take 30 45 minutes to complete. * The questionnaire will include basic demographic questions about the participant and the child. There will also be questions about how the participant copes with the stress and uncertainty of DBMD. * For most of the questions, participants will rate their feelings on a scale. There will also be four open-ended questions.OBSERVATIONAL* INCLUSION CRITERIA: Participants will be biological mothers of a living child with Duchenne or Becker muscular dystrophy living in the United States, who are 18 years or older and able to answer a survey in English. Participants will be asked to disclose their child's diagnosis but no screening evaluation will be required. EXCLUSION CRITERIA: Participants unable to answer a survey in English.ALL2024-10-18T00:00:002014-07-162014-07-162018-04-042014-07-182018-04-052014-07-062015-04-202017-07-07Background: - Children with Duchenne/Becker Muscular Dystrophy (DBMD) slowly lose muscle function. They usually die at a young age. Some mothers adapt to the demands of caring for a child with this disease better than others. Studies show that a person s hope may positively affect how they cope and adapt. Researchers want to find out more about this. They want to develop ways to improve caregivers overall wellness. Objective: - To study the relationships between uncertainty, hope, and coping ability in mothers of children with DBMD. Eligibility: - Women in the United States 18 years and older. They must be biological mothers of a living child with DBMD and be able to answer a survey in English. Design: * This study is part of a larger study that examines the well-being of mothers with sons who have DBMD. * Participants will take a questionnaire. The questionnaire can be done on paper or on a computer. It will take 30 45 minutes to complete. * The questionnaire will include basic demographic questions about the participant and the child. There will also be questions about how the participant copes with the stress and uncertainty of DBMD. * For most of the questions, participants will rate their feelings on a scale. There will also be four open-ended questions.Stress228Coping EfficacyCurrentUncertaintyCurrentAdaptationCurrentTrue18FalseFalseFalseFalse NCT0636335724B-007-0000Seoul National University HospitalOTHERThe Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Duchenne Muscular Dystrophy2024-06RECRUITINGThe goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with Duchenne muscular dystrophy. The main questions it aims to answer are: * What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with Duchenne muscular dystrophy? * Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: * Receive education on how to wear and use the shoulder orthosis. * Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare Duchenne muscular dystrophy patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.INTERVENTIONALInclusion Criteria: * Confirmed diagnosis of Duchenne muscular dystrophy (DMD) through genetic testing * Older than 10 years old * Brooke scale score of 2-5 * Shoulder abduction muscle strength grade below 3 Exclusion Criteria: * Unable or unwilling to provide informed consent * Brooke scale score of 1 or 6 * Cognitive impairment to the extent that limits the use of the shoulder orthosisALL2024-10-18T00:00:002024-04-092024-04-092024-06-182024-04-122024-06-212024-04-202025-12-312025-12-31FalseFalseThe goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with Duchenne muscular dystrophy. The main questions it aims to answer are: * What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with Duchenne muscular dystrophy? * Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not? Participants will: * Receive education on how to wear and use the shoulder orthosis. * Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues. Researchers will compare Duchenne muscular dystrophy patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.Muscular Dystrophy, Duchenne;Orthotic Devices;Upper ExtremityNA30Performance of the upper limb module 2.0 (PUL 2.0)The Performance of the Upper Limb module (PUL) was specifically designed to assess upper limb function across the spectrum of function in patients with DMD, providing information on three domains of upper limb function (shoulder, middle, distal) and overall upper limb functional abilities. Each domain (shoulder, middle, distal) can be scored separately, and the scores from the three levels are summed up to a maximum of 44 points.Before orthosis wear & After orthosis wear and operationActive Range of motionMeasurement of range of motion is assessed using a goniometer, with the evaluator measuring the active range of motion of the shoulder joint in the same position before and after orthosis wear using the same tool. The measurement is taken with the trunk as the center, and the flexion and abduction of the humerus are each measured three times, with the average value used.Before orthosis wear & After orthosis wear and operationFunctional workspaceFunctional workspace analysis consists of 7 movements, where participants are asked to touch specific body parts in sequence: 1. Belly button, 2. Back pocket, 3. Same-side shoulder, 4. Opposite-side shoulder, 5. Mouth, 6. Top of head, 7. Back of head using both right and left hands. Analysis of functional workspace is manually performed based on recordings from 2 video cameras. Scores are assigned on a 4-point scale: 0 indicates inability to perform the task, 1 indicates reaching 0-49% of the target location, 2 indicates reaching 50-99% of the target location, and 3 indicates reaching the target location completely. Cumulative scores are calculated for all movements.Before orthosis wear & After orthosis wear and operationGoal Attainment Scale (GAS)Setting GAS goals is based on selecting the three most urgent issues among the problems the patient has based on the initial clinical assessment scores, with sufficient consideration given to the opinions of the patient and caregivers through interviews. Subsequently, three specific goals are selected based on the most urgent problems identified by the research team meeting.Before orthosis wear & After orthosis wear and operationSurface electromyography (sEMG)- Measurement Tasks: The following items are selected based on the examiner's judgment, with 3-5 items chosen for measurement: i. Shoulder abduction with both arms raised above the head ii. Shoulder height arm raising (based on elbow position) iii. Shoulder flexion at shoulder height iv. Moving wooden blocks v. Pouring water into a cup vi. Placing hand on the abdomen vii. Placing hand in the back pocket viii. Placing hand on the shoulder of the same side ix. Placing hand on the shoulder of the opposite side x. Placing hand on the mouth xi. Placing hand on the top of the head xii. Placing hand on the back of the head C. Sensor Attachment Sites: - Selected based on the measurement task: i. Deltoid ii. Pectoralis major iii. Trapezius D. Sensor Signal Parameters: - EMG Parameters: Amplitude after Rectification (RMS), area, percentage ratio of amplitude to MVC, percentage ratio of amplitude to RVC during motion.Before orthosis wear & After orthosis wear and operationFalse10FalseFalseFalseFalse NCT055756482022/13-45Hacettepe UniversityOTHERDual Task in Duchenne Muscular Dystrophy2024-02COMPLETEDThis study was planned to determine the effects of the dual-task performance of children with DMD with motor dysfunction and varying degrees of cognitive impairment compared to their healthy peers, to compare the dual-task performance of children with different functional levels, and to determine the relationship between parameters that may affect dual-task performance.INTERVENTIONALInclusion Criteria: * Having been diagnosed with DMD by a pediatric neurologist, * Must be at least 6 years old and have the ability to walk 10 meters independently, * Being able to cooperate with the instructions given by the physiotherapist, * Not having undergone surgery in the last 6 months and not having any injuries, Exclusion Criteria: * Failure to cooperate with the physiotherapist who made the evaluations, * Have had any injury and/or surgery in the last 6 months, * Children without consent will not be included.MALE2024-10-18T00:00:002022-10-082022-10-082024-02-262022-10-122024-02-282022-09-062023-04-012023-05-01falseFalseFalseThis study was planned to determine the effects of the dual-task performance of children with DMD with motor dysfunction and varying degrees of cognitive impairment compared to their healthy peers, to compare the dual-task performance of children with different functional levels, and to determine the relationship between parameters that may affect dual-task performance.Duchenne Muscular DystrophyNA94Dual task performance- 10 meter walk testThe time is measured after 10 meter walk completedonly baselineDual task performance- 10 meter walk test with cognitive taskThe time is measured after 10 meter walk with a cognitive (memory and mental) task completedonly baselineDual task performance- 10 meter walk test with motor taskThe time is measured after 10 meter walk with a motor task completedonly baselineFunctional level- Brooke Lower Extremity Functional ClassificationIt was developed using the classification method based on Vignos et al. to determine the functional status of the lower extremity. It consists of 10 different levels, ranging from Level 1 (walks independently and climbs stairs) to Level 10 (bound to bed).only baselineAmbulation level- North star ambulatory assessmentIt consists of an item that allows the evaluation of activities that children frequently use in their daily lives, such as "standing up from a chair", "climbing steps", "stepping down", "standing up", "running". Scoring; 2 = the activity is done unassisted, normally, 1 = the activity is done unassisted but in a modified form, and 0 = the activity cannot be done independently. The total score ranges from 0-34. A higher score indicates better ambulation and motor function. It is a practical and valid reliable scale for children with DMD.only baselinePerformance- 6 minutes walk testThe 6-minutes walk test (6 MWT), which is valid and reliable for DMD patients, will evaluate the walking function and physical capacity of children at the submaximal level. The distance the child walks for 6 minutes in a 25 m corridor will be recorded in meters. A physiotherapist will walk with the children during the test and track the time with a stopwatch. The 6 MWT is a simple test and considered an important outcome measure for children with DMD.only baselineBalance - Pediatric berg balance scaleIt is a test that functionally evaluates balance and consists of 14 parts, including parameters such as standing up from sitting, standing, transfers, taking steps, and turning. Each section is scored between 0-4 and the highest score that can be obtained from the scale is 56. High scores indicate good balance performance.only baselineBalance - Four square step testIt is a valid and reliable test that has been used frequently in children in recent years to evaluate dynamic balance. Sticks, each 90 cm long, are placed on the floor to form 4 squares and the squares are numbered from 1 to 4. For the test to be completed successfully, the child must quickly move from one square to the next without touching the sticks. Performance is determined by measuring the test completion time in seconds. Shorter completion time means better dynamic balance.only baselineFear of falling - Pediatric Fear of Falling QuestionnaireIts validity and reliability have been established in children with DMD. The test consists of 34 items that question children's fear of falling during different activities in daily life. It is scored as "0=Never", "1=Sometimes", "2=Always" and the highest possible score is 68. Higher scores indicate greater fear of falling.only baselineFall frequencyHow many times children have fallen in the last week (fall frequency) will be recorded.only baselineGait - Gait Evaluation Scale in Duchenne Muscular DystrpohyIt consists of 10 items that examine the kinetic/kinematic condition of the foot, knee, hip, lumbar region, trunk, arm and head, support surface, walking speed and stride length, and each item is scored between 0 (worst) - 2 (best).only baselineGait - Gait Classification Scale in Duchenne Muscular DystrpohyIt classifies gait with 5 levels, from Level 1 (Patient walks without compensation) to Level 5 (Patient cannot walk).only baselineGait - Functional Evaluation Scale for Duchenne Muscular Dystrophy-Gait DomainIt allows the compensatory movements of ambulatory children to be examined in detail through observation and provides a kinesiological analysis of gait by detecting and scoring compensatory movements. The scale consists of 3 parts: stance phase, swing phase and general compensatory movements. The points that can be obtained from the stance phase are between 0-23, the points that can be obtained from the swing phase are between 0-11, and the points that can be obtained from the general compensatory movements are between 0-13. Lower scores indicate good performance.only baselineCognitive level - Modified Mini Mental TestThe Mini Mental Test developed for adults was adapted to the pediatric population by making minor modifications. Test; It evaluates verbal responses including attention, orientation, memory and language skills, ability to obey verbal and written orders, write spontaneous sentences, and copy a complex drawing. The highest score that can be obtained from this test is 37, the lowest score is 0. The total score reaches a plateau at approximately 9-10 years of age and corresponds to the scores of healthy adults. Values below 27 points out of a total of 37 points in children over the age of 10 are indicative of mental retardation or dementia.only baselineActivity of daily living - The Functional Independence Measure for Children (WeeFIM)It consists of 6 sections and 18 items covering self-care, sphincter control, transfers, locomotion, communication, social and cognitive domains. Each item is scored between 7 (completely independent) and 1 (fully assisted) and the total score is determined as a minimum of 18 (fully dependent) and a maximum of 126 (completely independent).only baselineActivity of daily living - ACTIVLIMIt is a scale developed to evaluate activity limitations in all neuromuscular diseases, including adult and childhood, and has Turkish validity and reliability. The scale includes 22 items that evaluate activities of daily living that require the use of the upper and lower extremities. Scoring; "0 = cannot do the activity", "1 = has difficulty in doing the activity", "2 = can do the activity easily" and according to this score, the patients are asked to describe their level of difficulty in performing each activity. The highest score that can be obtained from the test is 36, and higher scores indicate less activity limitations.only baselineQuality of life - The Pediatric Quality of Life Inventory (PedsQL)-Neuromuscular Module Turkish version PedsQL-3.0This scale, which was found to be valid and reliable to evaluate the quality of life of children with neuromuscular disease, consists of 3 parts containing a total of 25 items. The first part contains 17 items about the disease, the second part contains 3 items about communication skills, and the third part contains 5 items about the family's financial resources and social support systems. The scale consists of a child personal report and a parent report for children aged 5-18, while only a parent report for children aged 2-4. Each item is scored between 4 (always a problem) - 0 (never a problem). Scoring is converted to 0=100, 1=75, 2=50, 3=25, 4=0. A higher score on the scale indicates a better health-related quality of life.only baselineTrue6FalseFalseFalseFalse NCT02994030BDMD 6-2018CENTOGENE GmbH RostockINDUSTRYBiomarker for Duchenne Muscular Dystrophy2022-03COMPLETEDInternational, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.OBSERVATIONALINCLUSION CRITERIA * Informed consent is obtained from the parent/ legal guardian * The participant is aged between 2 months and 50 years * The diagnosis of DMD is genetically confirmed by CENTOGENE EXCLUSION CRITERIA * Informed consent is not obtained from the parent/ legal guardian. * The participant is younger than 2 months or older than 50 years * The diagnosis of DMD is not genetically confirmed by CENTOGENEALL2024-10-18T00:00:002016-11-222016-12-132022-03-232016-12-152022-03-242018-08-202022-03-112022-03-11trueFalseFalseInternational, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.Increased Lordosis/Scoliosis;Hyporeflexia;Duchenne Muscular Dystrophy;Red-Green Color Blindness;Lordosis;Scoliosis;Muscular Atrophy;Muscular Weakness103Identification of DMD biomarker/sAll samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.36 weeksExploring the clinical robustness, specificity, and long-term variability of DMD biomarker/sSamples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.36 monthsFalse250FalseFalseFalseFalse NCT02752048Taiho10053040Taiho Pharmaceutical Co., Ltd.INDUSTRYA Phase IIa Study of TAS-205 for Duchenne Muscular Dystrophy2020-03COMPLETEDThe objective of this study is to evaluate the efficacy after 24-week repeated oral doses of TAS-205 in patients with Duchenne Muscular Dystrophy (DMD) in an exploratory manner.INTERVENTIONALInclusion Criteria: * Able to give an informed consent. If applicable, able to give an informed assent. * Phenotypic evidence of DMD. * Male and ≧5 years of age. * Bodyweight ≧7.5 kg and \<60 kg. * Able to complete the 6MWD test with a distance of at least 75 m. * Able to take tablets. * If taking oral glucocorticoids no significant change in the total daily or dosing 6 months before enrollment. Exclusion Criteria: * Any serious drug allergy. * A forced vital capacity (FVC) of \<50% of predicted value. * Wearing a respirator continuously (except for the use during sleep). * A left ventricular ejection fraction (EF) of \<40% or fractional shortening (FS) of \<25% on echocardiogram. * Clinically significant cardiac failure and respiratory failure. * Ongoing immunosuppressive therapy (other than corticosteroids) . * Surgical history or plan for surgery that may affect muscular strength or motor function. * Any injury that may affect muscular strength or motor function. * With any systemic allergic disease or any chronic inflammatory disease. * Previous gene therapy (exon skipping, or stop codon read through therapy), cell-based therapy, or any other investigational agents.MALE2024-10-18T00:00:002016-04-062016-04-212020-04-082016-04-262020-04-202016-052017-05-152017-10-17The objective of this study is to evaluate the efficacy after 24-week repeated oral doses of TAS-205 in patients with Duchenne Muscular Dystrophy (DMD) in an exploratory manner.Duchenne Muscular DystrophyPHASE236Mean Change From Baseline to 24 Weeks in the 6-minute Walk Distance (6MWD)The distance the subject can walk as fast as possible in 6 minutes will be evaluated.baseline, 24 weeksMean Change From Baseline in Time to Rise From the FloorThe time required for the subject to rise from a supine position on the floor as quickly as possible will be evaluated.baseline, and 24 weeksMean Change From Baseline in Time to Walk/Run for 10metersThe time required for the subject to run or walk as quickly as possible a 10 m-wide passage with marks affixed on the floor will be evaluated.baseline, and 24 weeksMean Change From Baseline in Time to up and go (TUG)This test will assess the extent of the subject's composite mobility, including standing up, walking, repositioning the body, and balancing.baseline, and 24 weeksFalse5FalseFalseFalseFalse NCT03507530GO 18/45Hacettepe UniversityOTHEREffects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy2018-04UNKNOWNFor ambulatory children with DMD, physiotherapy is aimed at protecting ambulation, improving motor performance to the best level and increasing quality of life. The investigators think that the treatment of children with Duchenne Muscular Dystrophy may become more effective with physiotherapy programs based on the comprehensive physiotherapy evaluation results, including the evaluation of fear of falling. This study investigates the fear of falling in children with Duchenne Muscular Dystrophy and questioning whether their fear of falling affects their quality of life and their physical performance.OBSERVATIONALInclusion Criteria: * Diagnosed with Duchenne Muscular Dystrophy by a pediatric neurologist, * Being volunteer, * Being between 6 and 15 years old, * Being between levels 1-5 according to the Brooke Lower Extremity Functional Classification developed to classify lower extremity functions in children with DMD, * Being able to cooperate with the physiotherapist's directives. Exclusion Criteria: * Being between levels 6-10 (children who do not have independent ambulatory ability) according to the Brooke Lower Extremity Functional Classification, * Not being able to cooperate with the physiotherapist's directives, * End of the volunteering.ALL2024-10-18T00:00:002018-04-082018-04-152018-04-252018-04-252018-04-272018-042019-012019-01FalseFalseFor ambulatory children with DMD, physiotherapy is aimed at protecting ambulation, improving motor performance to the best level and increasing quality of life. The investigators think that the treatment of children with Duchenne Muscular Dystrophy may become more effective with physiotherapy programs based on the comprehensive physiotherapy evaluation results, including the evaluation of fear of falling. This study investigates the fear of falling in children with Duchenne Muscular Dystrophy and questioning whether their fear of falling affects their quality of life and their physical performance.Neuromuscular Diseases;Duchenne Muscular Dystrophy;Dystrophy;Dystrophy, Muscular40Fear of Falling"ICF Based 'Fear of Falling' Assessment in Pediatric Neuromuscular Diseases" is developed by researchers as examining the 'fear of falling' assessments in the literature and organizing the activities that children with Duchenne Muscular Dystrophy (DMD) may have experience fear of falling. There are six main titles which are based on DMD population and ICF headings. As follows: "Learning and Applying Knowledge", "General Tasks and Demands", "Mobility", "Self-Care", "Major Life Areas" and "Community, Social and Civic Living". It is a form total of 34 items which children with DMD answer to the fear of falling during different activities as "never = 0", "sometimes = 1", "always = 2" or "not applicable = NA". High scores indicate high fear of falling.15-30 minutesHistory of FallsFall history of children with DMD is assessed using the 17-item History of Fall Questionnaire, which was developed by Ann Myers in 1996 and was later used to assess the fear of falling of individuals with Spinal Muscular Atrophy, a neuromuscular disease. Accordingly, past experiences of falling children are evaluated in sub-titles such as frequency, location, internal and external causes, injury.15-20 minutesPosture AnalysisPosture analysis is made by using "New York Posture Rating Scale".15-20 minutesPerformance Evaluation6 minute walking test (6MWT) are used.6 minutesEvaluation of Energy ConsumptionPhysiological Cost Index is used to evaluate energy consumption. It reflects the increased heart rate required for walking and is expressed as heartbeats per meter by formula: \[Heart rate after 6MWT- Heart rate at rest\]/Walking speed (m/min).15-20 minutesFatigueTo evaluate the fatigue of the children with DMD, PedsQL Multidimensional Fatigue Scale is used. This scale assesses fatigue with a total of 18 items, 6 items in each of the 3 main headings: "General Fatigue", "Sleeping / Resting Fatigue" and "Cognitive Fatigue". There are three different forms for young children (5-7 years), children (8-12 years) and adolescents (13-17 years). All three forms have both child and parent reports. The reliability and validity of the scale is proven in Turkish.15-20 minutesBalance AssessmentThe Pediatric Berg Balance Scale is used to assess the functional balance in the daily activities of children with DMD. The scale consists of 14 sections and each section is scored between 0-4; the highest score that can be taken from the scale is 56 and the higher scores show the better balance level.15-20 minutesFunctional Walking AssessmentGillette Functional Walking Scale is used for practical assessment of walking. The parent marks the item that best describes the child's ability to walk within 10 items. The high score means better walking ability.5-10 minutesGait AnalysisSpatio-temporal characteristics of gait are assessed. Step length, stride length, step width (width of the walking base) and stance width are measured by footprint method which we use talcum powder to make them appear.The walking speed are recorded according to the 6MWT results.15-20 minutesAmbulation AssessmentThe North Star Ambulatory Assessment which is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD) is used. The activities are scored as follows: 2 - 'Normal' - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently15-20 minutesQuality of LifeThe Pediatric Outcomes Data Collection Instrument is used for a comprehensive assessment of quality of life of children with DMD. Functional dimensions are assessed include upper extremity functioning, transfers and basic mobility, sports and physical function, comfort/pain, global function (an average of the four previous scores), and happiness with physical condition. Scores for all dimensions are scaled from 0 to 100, with 100 being the highest level of function or happiness.15-20 minutesActivity LimitationACTIVLIM questionnaire is used which was designed to evaluate limitations in activities involving upper and lower limbs in adults and children with neuromuscular diseases, is linked to the domains of the Activities and Participation of the International Classification of Functioning, Disability and Health (ICF), and to its Children and Youth version (ICF-CY). There are 22 daily living activities and each item is answered on a 3-level scale (impossible, difficult, easy). The highest score that can be taken from the test is 44 and the higher scores indicate less activity limitation.5-10 minutesFalse615FalseFalseFalseFalse NCT03319030Aerobic Exercise DMDAnn & Robert H Lurie Children's Hospital of ChicagoOTHERAerobic Exercise in Boys With Duchenne Muscular Dystrophy (DMD)2019-01COMPLETEDThis research study wants to learn more about Duchenne Muscular Dystrophy (DMD) and exercise. Today it is unknown how exercising impacts boys with DMD. The investigators believe that increasing activity and aerobic exercise may help with heart, lung, and muscle function. The investigators are hoping to compare physical strength and blood samples of boys with DMD to see if there are any differences between kids who exercised more as a child versus those who didn't.OBSERVATIONALInclusion Criteria: * Ages 2-17 years old with a confirmed diagnosis of DMD. Has an appointment in MDA clinic at the Ann \& Robert H. Lurie Children's Hospital of Chicago. Exclusion Criteria: * Is less than two years old and does not have a confirmed diagnosis of DMD.MALE2024-10-18T00:00:002017-10-092017-10-222019-01-312017-10-242019-02-042017-09-012018-04-302018-09-30falseFalseFalseThis research study wants to learn more about Duchenne Muscular Dystrophy (DMD) and exercise. Today it is unknown how exercising impacts boys with DMD. The investigators believe that increasing activity and aerobic exercise may help with heart, lung, and muscle function. The investigators are hoping to compare physical strength and blood samples of boys with DMD to see if there are any differences between kids who exercised more as a child versus those who didn't.Duchenne Muscular Dystrophy43microRNA levelsUnderstanding if there are any differences in microRNA's in boys who are more active versus those who are not.Baseline onlyPhysical therapy assessment - 10 meter run testTime in seconds that it takes a participant to run 10 meters.Baseline onlyPhysical therapy assessment - North Star Ambulatory AssessmentComparing a standardized test for ambulatory boys with DMD that gives a score out of 34 total points and microRNA levels.Baseline onlyPhysical therapy assessment - time to standing from supineTime in seconds that it takes a participant to stand from a supine position.Baseline onlyCardiac Assessments: Electrocardiogram (ECG)Comparing heart rate (BPM), PR interval (msec), QRS (msec), and QT intervals (msec) to microRNA levels.Baseline onlyCardiac Assessments: Echocardiogram (ECHO)Comparing ejection fraction (%) and other Left Ventricle systolic and diastolic metrics (cm) and microRNA levels.Baseline onlyQuestionnaire: Pediatric Quality of Life: Neuromuscular moduleTo see if there is any correlation between Quality of Life scores (range from 0 to 100) and microRNA levels. Increased scores indicate a higher quality of life.Baseline onlyQuestionnaire: Physical Function SurveyTo see if there is any correlation between scores of functional ability (with a range from 0 to 106) and microRNA levels. Higher physical function function scores indicate increased strength.Baseline only217FalseFalseFalseFalse NCT02295748MP-104-CL-022OLEPTC TherapeuticsINDUSTRYAn Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability Deflazacort2017-01COMPLETEDThis is an open label, long-term extension study in approximately 24 male DMD subjects consisting of children (ages 4-12, inclusive) and adolescents (ages 13-16, inclusive) who participated in the MP-104-CL-005 PK study.INTERVENTIONALInclusion Criteria: * Subject is capable of understanding and complying with protocol requirements. * Subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures. * If above the age of 7, the subject signs and dates a written, informed assent form (IAF) and any required privacy authorization prior to the initiation of any study procedures. Subjects under age 7 at the time of study entry who turn age 7 will sign and date a written informed assent form (IAF) at the visit following their 7th birthday, if required by the site's IRB. * Subject participated in and received at least one dose of study medication in the MP-104-CL-005 protocol. * The subject must have confirmed diagnosis of Duchenne Muscular Dystrophy defined as: 1. onset of weakness before 5 years of age; 2. proximal muscle weakness; 3. increased serum creatine kinase more than 10 times the upper limit of normal (ULN); 4. muscle biopsy and dystrophin analyses consistent with DMD or DNA mutation and analysis by PCR or Southern blot techniques to detect gene deletions. * The subject weighs at least 13 kg and has a body mass index (BMI) of ≤ 40 kg/m2. * Willingness and ability to comply with scheduled visits, oral drug administration, and study procedures including blood sample draws for safety labs. * Up to date on all childhood vaccinations, including varicella vaccine (chicken pox). * Baseline health is judged to be stable based on medical history, physical examination, laboratory profiles, vital signs, or ECGs at screening, as deemed by the Investigator. * Continuous non smoker who has not used nicotine containing products for at least 3 months prior to the first dose. * The subject is able to take tablets. Exclusion Criteria: * The subject has received any investigational compound and/or has participated in another clinical study within 90 days prior to study treatment with the exception of MP-104-CL-005, observational cohort studies or non-interventional studies. * The subject is an immediate family member, study site employee, or is in a dependent relationship with a study site employee who is involved in the conduct of this study (e.g. spouse, parent, child, sibling) or may consent under duress. * Any significant finding on the Columbia suicide severity rating scale (C SSRS) for subjects (ages 12-16, inclusive), in the opinion of the PI, warrants exclusion from this study. * The subject has, in the judgment of the, clinically significant abnormal clinical chemistry laboratory parameters that may affect safety at Day 0. * The subject has, in the judgment of the Investigator, a history or current medical condition that could affect safety including, but not limited to: 1. Major renal or hepatic impairment 2. Immunosuppression or other contraindications for corticosteroid treatment 3. History of chronic systemic fungal or viral infections 4. Diabetes mellitus 5. Idiopathic hypocalciuria 6. Symptomatic cardiomyopathy at Day 0 * The subject has a history of hypersensitivity or allergic reaction to steroids or their formulations including, but not limited to lactose, sucrose, etc. * Inability to take tablets as assessed by site investigator. * Subject is mentally or legally incapacitated or has significant emotional problems at the time of screening visit or expected during the conduct of the study. * History of any illness that, in the opinion of the PI, might confound the results of the study or poses an additional risk to the subject by their participation in the study. * Positive urine drug or alcohol results at Day 0. * Hemoglobin level below the lower limit of normal at Day 0.MALE2024-10-18T00:00:002014-11-182014-11-182017-12-062014-11-202017-12-082014-122017-08-242017-08-24falseThis is an open label, long-term extension study in approximately 24 male DMD subjects consisting of children (ages 4-12, inclusive) and adolescents (ages 13-16, inclusive) who participated in the MP-104-CL-005 PK study.Duchenne Muscular DystrophyPHASE124Number, frequency, and severity of adverse eventsLong-term safety and tolerability will be characterized by the number, frequency, and severity of adverse events from Day 1 through End of Study or Early Termination.3 yearsFalse4FalseFalseFalseFalse NCT06363526UMalagaDRIPUniversity of MalagaOTHEREffectiveness of 5-week Digital Respiratory Practice in a Group of Children With Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.2024-04NOT_YET_RECRUITINGThe purpose of this study is to analyze the effectiveness of a 5-weeks respiratory digital intervention program in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.INTERVENTIONALInclusion Criteria: * Participants with Duchenne muscular dystrophy and patients with Becker muscular dystrophy will be chosen. * Aged between 5 and 20 years. * Child who could walk and follow the intervention program, and were diagnosed according to the International Classification of Diseases, 10 Revision. code (G71-01); and who had an NSSA score greater than 20. Exclusion Criteria: * Patients who present associated heart disease. * Patients who presentor fractures, a heart rate greater than 120 beats per minute, or an oxygen saturation less than 89% will be excluded. * Participants who do not have the capacity to have internet at home to perform the intervention, as well as all patients whose caregivers did not agree to sign the informed consent.ALL2024-10-18T00:00:002024-03-222024-04-082024-04-082024-04-122024-04-122024-05-052024-10-302024-11-30FalseFalseThe purpose of this study is to analyze the effectiveness of a 5-weeks respiratory digital intervention program in patients with Duchenne muscular dystrophy and Becker muscular dystrophy.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Muscular DystrophyNA12Analyze the improvement of the forced vital capacity (FVC).Forced vital capacity is a respiratory parameter which is obtained from spirometry and which provides objective, valid information. It will be performed using spirometry before and after the digital respiratory intervention program. The spirometer that will be used is the "EasyOne Air Spirometer that complies with ISO 26782 standards, following the national spirometric recommendations of the ATS/ERS 2019.Baseline, up to 5 weeks.Perform an anthropometric study of the patient's characteristics, taking into account weight; and also a general physical examination.An anthropometric study of the patient's characteristics will be carried out, taking into account age, weight, as well as the average values that should be established based on age; as well as a general physical examination of the patient to analyze if they will be considered fit or not to carry out the program. The weight will be check by "SECA 700 MECHANICAL COLUMN SCALE WITH SECA 220 STADIOMETER", and the height will be analyze by a measuring tape.Baseline, up to 5 weeks.Perform an anthropometric study of the patient's characteristics, taking into account age.An anthropometric study of the patient's characteristics will be carried out, taking into account age, as well as the average values that should be established based on age; as well as a general physical examination of the patient to analyze if they will be considered fit or not to carry out the program.Baseline, up to 5 weeks.Perform an anthropometric study of the patient's characteristics, taking into account height.An anthropometric study of the patient's characteristics will be carried out, taking into account height, as well as the average values that should be established based on age; as well as a general physical examination of the patient to analyze if they will be considered fit or not to carry out the program.Baseline, up to 5 weeks.Perform an anthropometric study of the patient's characteristics, taking into account sex.An anthropometric study of the patient's characteristics will be carried out, taking into account height, as well as the average values that should be established based on sex; as well as a general physical examination of the patient to analyze if they will be considered fit or not to carry out the program.Baseline, up to 5 weeks.Examine changes in forced expiratory pressureForced expiratory pressure is a respiratory parameter obtained through spirometry, which provides important information about the patient's respiratory status. Measuring it will be done with the same characteristics as that previously mentioned in the FVC.Baseline, up to 5 weeks.Analyze changes in maximum inspiratory pressure (MIP) and maximum expiratory pressure (MEP).Changes in the strength of the inspiratory and expiratory muscles will be assessed using a pressure meter with a reading range of ±300 cm H20 and an accuracy of 3% (MicroRPM® model, Vyaire Medical GmbH, Hoechberg, Germany) following the national recommendations of the Spanish Society of Pulmonology and Thoracic Surgery (SEPAR) (16).Baseline, up to 5 weeks.Check if there are changes in the sniff nasal inspiratory pressure (SNIP)The existence of changes in the diaphragm force index is assessed, measuring it in exactly the same way as the MIP and PEM.Baseline, up to 5 weeks.Evaluate the fatigue in patients using an EPInfant test.The amount of effort the child perceives during the sessions is assessed. It shows 11 descriptors numbered from 0 to 10 and 5 verbal descriptors located every 2 levels of the numbered descriptors, along with a drawing of a child doing physical activity in an increasing manner, increasing in intensity from left to right. The higher the numerical value, the worse the result is considered.Baseline, up to 5 weeks.Evaluate the quality of life of patients using a scale called "Kindscreen-52".52-item scale carried out in Ravens-Sieberer U and validated in Spanish by Rajmil L, which assesses physical and psychological well-being, mood and emotions, self-perception, autonomy and relationship with friends and social life. . The scores were transformed into a scale from 0 to 100 to facilitate their interpretation: the higher the score, the higher HRQoL.Baseline, up to 5 weeks.False520FalseFalseFalseFalse NCT0183406600101Chaitanya Hospital, PuneOTHERStudy Safety and Efficacy of Bone Marrow Derived Autologous Cells for the Treatment of Muscular Dystrophy.2014-09UNKNOWNThis Study is single arm, single centre trial to check the safety and efficacy of Bone Marrow derived autologous cell(100 million per dose) for the patient with Duchenne Muscular Dystrophy.INTERVENTIONALInclusion Criteria: * Patient with Diagnose of Duchenne Muscular Dystrophy. * Aged in between 6 to 25 Years. * Willingness to undergo Bone Marrow derived Autologous cell Therapy. * Ability to comprehend the explained protocol and thereafter give an informed consent as well as sign the required Informed Consent form(ICF) for the study. * Ability and willingness to regular visit to hospital for protocol procedures and follow up Exclusion Criteria: * Patient who is not Diagnose of Duchenne Muscular Dystrophy. * Patient with History of Immunodeficiency HIV+,Hepatitis B ,HBV and TPPA+,Tumor Markers+ * History of Life threatening allergic or immune -Mediated Reaction. * the site of bone marrow aspiration potentially limiting Procedure. * Alcohol and drug abuse / dependence. * Patients with History of Hypertension and Hypersensitive.ALL2024-10-18T00:00:002013-02-262013-04-152014-09-162013-04-172014-09-172014-092016-112016-12trueThis Study is single arm, single centre trial to check the safety and efficacy of Bone Marrow derived autologous cell(100 million per dose) for the patient with Duchenne Muscular Dystrophy.Muscular Dystrophy;Duchenne Muscular Dystrophy,PHASE1PHASE225Significant Improvement in Muscle strength by using Kinetics Muscle testing or by using MMT( manual muscle test }score6 Months-Improvement of daily living scale and baseline in EMG(electromyography)6 monthsTrue625FalseFalseFalseFalse NCT04349566FAST TROPONINRigshospitalet, DenmarkOTHERFast Troponin as a Biomarker to Assess Exercise-induced Muscle Damage in Muscle Diseases2022-10COMPLETEDThe purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle diseaseOBSERVATIONALInclusion Criteria: * The ability to cycle * No concurrent medical condition that could interfere with interpretation of the results * Molecular diagnosis of the specific condition in specified patient groups or healthy control * No active muscle injury on the test day (caused by recent exercise, seizures, trauma, etc.) Exclusion Criteria: * Competing conditions at risk of compromising the results of the study * Cardiac or pulmonary disease contraindicating peak exercise testing or strenuous exercise * Veins that are too difficult to puncture for blood sampling, evaluated by the investigator * Severe muscle weakness, that prevents the subject completing the exercise test, evaluated by the investigatorALL2024-10-18T00:00:002020-04-142020-04-142022-10-262020-04-162022-10-272020-06-012021-12-202021-12-20falseFalseFalseThe purpose of the study is to explore the biomarker Fast Troponins response to exercise in patients with Becker muscular dystrophy, Limb-girdle muscular dystrophy and McArdle diseaseBecker Muscular Dystrophy;McArdle Disease;Limb-Girdle Muscular Dystrophy Type 236Change in biomarkersChange in Fast and slow Troponin I after muscle damage24 hoursTrue1850FalseFalseFalseFalse NCT00799266CZOL446H2337NovartisINDUSTRYAn Efficacy and Safety Trial of Intravenous Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids2020-09COMPLETEDThis study was designed to evaluate the efficacy and safety of zoledronic acid compared to placebo in osteoporotic children treated with glucocorticoidsINTERVENTIONALKey Inclusion Criteria: * A diagnosis of chronic rheumatologic conditions or inflammatory bowel disease or Duchenne muscular dystrophy requiring systemic glucocorticoids (i.v. or oral) within 12 months prior to screening * Lumbar Spine BMDZ-score of -0.5 or worse * Evidence of at least at least 1 vertebral compression fracture of Genant Grade 1 or higher (or radiographic signs of vertebral fracture) within 1 month from Screening visit OR One or more, low-trauma, lower extremity long-bone fracture which occurred sometime within the 2 years PRECEDING enrollment in the study OR Two or more, low-trauma, upper extremity long-bone fractures which occurred sometime within the 2 years PRECEDING enrollment in the study * Consent/assent to study participation Key Exclusion Criteria: * History of primary bone disease (OI, Idiopathic Juvenile Osteoporosis, Rickets/Osteomalacia) * Any medical condition that might have interfered with the evaluation of lumbar spine BMD, such as severe scoliosis or spinal fusion. Patients with less than 3 evaluable vertebrae by Dual Energy X-ray Absorptiometry (DXA) evaluation in the region of interest lumbar 1 (L1) to lumbar 4 (L4), * Hypocalcemia and hypophosphatemia * Serum 25-hydroxy vitamin D concentrations of \<20 ng/mL or \<50 nmol/L * estimated glomerular filtration rate (GFR) \<60 mL/min/1.73 m2 * serum creatinine increase between Visit 1 and Visit 2 \>0.5 mg/dL (44.2 μmol/L) * Uncontrolled symptoms of cardiac failure or arrhythmia * Any prior use of bisphosphonates, or high dose sodium fluorideALL2024-10-18T00:00:002008-11-262008-11-262020-09-012008-11-272020-09-022008-12-042018-03-052018-03-05This study was designed to evaluate the efficacy and safety of zoledronic acid compared to placebo in osteoporotic children treated with glucocorticoidsOsteoporosisPHASE334Mean Change From Baseline in Lumbar Spine Bone Mineral Density (BMD) Z-score at Month 12Lumbar Spine Bone Mineral Density (BMD) Z-score was determined by the central imaging vendor before first treatment and at Month 12. The methods to be used to measure Lumbar Spine BMD Z-score were described in the respective DXA Manuals provided by central imaging vendor. Positive changes from baseline indicated an improvement in condition.Month 12Mean Change From Baseline in Lumbar Spine Bone Mineral Density (BMD) Z-score at Month 6Lumbar Spine Bone Mineral Density (BMD) Z-score was determined by the central imaging vendor before first treatment and at Month 6. The methods to be used to measure Lumbar Spine BMD Z-score were described in the respective DXA Manuals provided by central imaging vendor. Positive changes from baseline indicated an improvement in condition.Month 6Mean Change From Baseline in Lumbar Spine BMC at Month 6 and 12Lumbar Spine BMC was determined by the central imaging vendor before first treatment and at Months 6 and 12. The methods to be used to measure BMC were described in the respective DXA Manuals.Month 6, Month 12Mean Change From Baseline in Total Body BMC at Month 6 and 12Total body BMC was all determined by the central imaging vendor before first treatment and at Months 6 and 12. The methods to be used to measure BMC were described in the respective DXA Manuals.Month 6, Month 12Mean Change From Baseline in Serum P1NP at Months 6 and 12Serum Procollagen type 1 amino-terminal propeptide (P1NP) was collected before first treatment (baseline) and at Months 6 and Month 12 according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory.Month 6, Month 12Mean Change From Baseline in BSAP at Months 6 and 12Bone specific alkaline phosphatase (BSAP) were collected before first treatment (baseline) and at Months 6 and Month 12 according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory.Month 6, Month 12Mean Change From Baseline in Serum NTX at Months 6 and 12Serum Cross linked N-telopeptide (NTX) were collected before first treatment (baseline) and at Months 6 and Month 12 according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory.Month 6, Month 12Mean Change From Baseline in Serum TRAP-5b at Months 6 and 12Serum Tartrate-resistant acid phosphatase isoform 5b (TRAP 5b) was collected before first treatment (baseline) and at Months 6 and Month 12 according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory.Month 6, Month 12Number of Participants With New Vertebral Fractures at Month 12New vertebral fractures were defined as fractures of Genant Grade 1 or higher that occurred at lumbar or thoracic spine from first dose infusion to the end of the study.Month 12Mean Change From Baseline in Vertebral Morphometry at Month 12Vertebral morphometry (or concave index) was calculated using the average ratio between mid-height and posterior height from L1 to L4 and performed by a central reader.Month 12Percentage of Patients With Reduction in Pain at Months 3, 6, 9 and 12Pain was evaluated at each visit (in office and telephone visit) at randomization, Months 3, 6, 9 and 12 using the Faces Pain Scale-Revised (FPS-R). Children were selecting the face that best fits their pain. The pain score ranged from 0 (No Pain) to 10 (Very Much Pain). The reduction in pain from baseline by visit was evaluated based on whether or not patients had a decrease in their FPS-R from baseline. If pain remained the same or worsened from baseline a patient was classified as '0' and if the pain scale decreased then the patient was classified as '1'.Month 3, Month 6, Month 9 and Month 12Mean Change From Baseline in 2nd Metacarpal Cortical Width at Month 12Left posteroanterior (PA) hand/wrist X-ray were taken at Visit 1 and at the Month 12 visit to assess bone age and the between-treatment differences for change in 2nd metacarpal cortical width at Month 12 relative to baseline. If a fracture of the left upper extremity precluded radiographic imaging, then the right hand was evaluated for this purpose. In this case, the right hand was be imaged at both Visit 1 and at Month 12. The information was used in the assessment of bone density.Month 12Urinary Concentration of Zoledronic Acid at Month 12Urine was collected overnight or for at least 4 waking hours from all patients able to provide specimens, to measure urinary concentration of zoledronic acid at Month 12. Only descriptive analysis done.Month 12Safety of Zoledronic Acid for the Treatment of Osteoporotic Children Treated With GlucocorticoidsAnalysis of absolute and relative frequencies for treatment emergent Adverse Event (AE), Serious Adverse Event (SAE) and Deaths by primary System Organ Class (SOC) to demonstrate that zoledronic acid is safe for the treatment of osteoporotic children treated with glucocorticoids through the monitoring of relevant clinical and laboratory safety parameters. Only descriptive analysis done.Baseline through Month 12False517FalseFalseFalseFalse NCT00981266A101-0501-10Mentor Worldwide, LLCINDUSTRYSpectra Breast Implant Study2013-02WITHDRAWNThe purpose of this study is to demonstrate safety and effectiveness of Mentor's Spectra/Becker 80 Adjustable Breast Implants in women who are undergoing primary or revision breast augmentation. Safety information on the rate of complications, such as infection, will be collected and used to help determine device safety. These implants are investigational devices. Approximately 450 patients at sites across the United States will be enrolled in this research study by up to 30 sites. These patients will be implanted with Spectra/Becker 80 implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.INTERVENTIONALInclusion Criteria: * Subject is genetic female and is at least 22-years-old * A candidate for primary breast augmentation (general breast enlargement, post-lactational involution, asymmetry) or augmentation revision (previous augmentation with silicone-filled or saline-filled implants) * Signs the Informed Consent * Agrees to return device to Mentor if explant necessary * Agrees to comply with follow-up procedures, including returning for all follow-up visits * Patient is a US citizen with a Social Security Number Exclusion Criteria: * Subject is pregnant * Has nursed a child within three months of study enrollment * Been implanted with any silicone implant other than breast implants (e.g. silicone artificial joints or facial implants). * Confirmed diagnosis of the following rheumatic diseases or syndromes: SLE, Sjogren's syndrome, scleroderma, polymyositis, or any connective tissue disorder, rheumatoid arthritis, crystalline arthritis, infectious arthritis, spondyarthropathies, any other inflammatory arthritis, fibromyalgia, or chronic fatigue syndrome * Currently has a condition that could compromise or complicate wound healing * Has diagnosis of active cancer of any type * Infection or abscess anywhere in the body * Demonstrates tissue characteristics which are clinically incompatible with implant placement (e.g. tissue damage resulting from radiation, inadequate tissue, or compromised vascularity) * Possesses any condition, or is under treatment for any condition which, in the opinion of the investigator and/or consulting physician(s), may constitute an unwarranted surgical risk * Anatomic or physiologic abnormality which could lead to significant postoperative adverse events * Demonstrates characteristics that are unrealistic/unreasonable with the risks involved with the surgical procedure * Premalignant breast disease without a subcutaneous mastectomy * Untreated or inappropriately treated breast malignancy, without mastectomy * Are HIV positive * Work for Mentor or the study doctor or are directly related to anyone that works for Mentor or the study doctor * Implanted metal or metal devices, history of claustrophobia or other condition that would make a MRI scan prohibitiveFEMALE2024-10-18T00:00:002009-07-282009-09-182013-02-272009-09-222013-03-012013-062024-012026-10falseThe purpose of this study is to demonstrate safety and effectiveness of Mentor's Spectra/Becker 80 Adjustable Breast Implants in women who are undergoing primary or revision breast augmentation. Safety information on the rate of complications, such as infection, will be collected and used to help determine device safety. These implants are investigational devices. Approximately 450 patients at sites across the United States will be enrolled in this research study by up to 30 sites. These patients will be implanted with Spectra/Becker 80 implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.Augmentation;Augmentation Revision;General Breast Enlargement;Post-lactational Involution;AsymmetryPHASE30Safety will be determined by the incidence, severity, method of resolution, and duration for all adverse events on a per implant and per subject basis.10 yearsEffectiveness will be determined by changes in chest circumference and bra and cup size.10 YearsEffectiveness will also be determined by changes in validated Quality of Life instrument ratios.10 YearsFalse22FalseFalseFalseFalse NCT03039686CN001-016Hoffmann-La RocheINDUSTRYClinical Trial to Evaluate the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy2020-11COMPLETEDThis is a multi-center, randomized, double-blind, placebo-controlled study to assess the efficacy, safety and tolerability of two different weekly doses of RO7239361 in ambulatory boys with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Diagnosed with DMD by confirmed medical history and genetic testing * Able to walk without assistance * Minimum North Star Ambulatory Assessment score of 15 at screening * Able to walk up 4 stairs in 8 seconds or less * Weigh at least 15 kg (33 lbs) * Taking corticosteroids for DMD Exclusion Criteria: * Any behavior or mental issue that will affect the ability to complete the required study procedures * Previously or currently taking medications like androgens or human growth hormone * Use of a ventilator during the day * Unable to have blood samples collected or receive an injection under the skin * Concomitant or previous participation at any time in a gene therapy study Other protocol defined Inclusion/Exclusion Criteria could apply.MALE2024-10-18T00:00:002017-01-272017-01-312020-11-252017-02-012020-12-212017-07-062020-04-282020-04-28trueTrueFalseThis is a multi-center, randomized, double-blind, placebo-controlled study to assess the efficacy, safety and tolerability of two different weekly doses of RO7239361 in ambulatory boys with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE2PHASE3166Baseline for the North Star Ambulatory Assessment (NSAA) Total ScoreThe NSAA is a functional scale specifically designed for ambulant boys with Duchenne muscular dystrophy (DMD) that can provide information about motor function. The NSAA is a 17-item test of standing, ability to transition from lying to sitting, sitting to standing, and other mobility assessments. Each of the 17 items is evaluated on an ordinal scale of 0-2: 0 = unable to achieve independently, 1 = modified method but achieves goal independent of physical assistance from another, or 2 = normal with no obvious modification of activity. Total score range is 0 to 34. Higher scores reflect better performance.BaselineChange From Baseline in the North Star Ambulatory Assessment (NSAA) Total Score at Week 48The NSAA is a functional scale specifically designed for ambulant boys with Duchenne muscular dystrophy (DMD) that can provide information about motor function. The NSAA is a 17-item test of standing, ability to transition from lying to sitting, sitting to standing, and other mobility assessments. Each of the 17 items is evaluated on an ordinal scale of 0-2: 0 = unable to achieve independently, 1 = modified method but achieves goal independent of physical assistance from another, or 2 = normal with no obvious modification of activity. Total score range is 0 to 34. Higher scores reflect better performance. A positive change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Baseline Time for 4 Stair ClimbThe time to complete the 4 stair climb was measured at baseline.BaselineChange From Baseline at Week 48 in 4 Stair Climb Velocity (4SCV)4SCV was calculated as the ratio of the number of stairs climbed (4) divided by the number of seconds taken to complete the 4-stair climb. The results were converted into velocity (distance/time). A positive change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Baseline for the Time to Stand From SupineThe time required for a participant to stand from supine position. A longer time reflects a worse outcome.BaselineChange From Baseline at Week 48 in Stand From Supine VelocityThe time required for a participant to stand from supine position. A longer time reflects a worse outcome. A negative change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Baseline Time for 10 Meter Walk/RunThe time required for a participant to run or walk a distance of 10 meters as quickly as possible. A longer time reflects a worse outcome.BaselineChange From Baseline at Week 48 in 10 M Walk/Run VelocityThe time required for a participant to run or walk a distance of 10 meters as quickly as possible calculated as velocity (distance/time). A positive change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Baseline for the Pediatric Outcome Data Collection Instrument (PODCI) Transfer and Basic Mobility SubscaleThe PODCI is designed to be completed by the parent/guardian of a child who has knowledge of the child's conditions. The Transfer and Basic Mobility scale is one of the subscales of the PODCI. The results are standardized into a scale of 0-100 with a higher score reflecting better performance.BaselineChange From Baseline at Week 48 in Pediatric Outcome Data Collection Instrument (PODCI) Transfer and Basic Mobility SubscaleThe PODCI is designed to be completed by the parent/guardian of a child who has knowledge of the child's conditions. The Transfer and Basic Mobility scale is one of the subscales of the PODCI. The results are standardized into a scale of 0-100 with a higher score reflecting better performance. A positive change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Change From Baseline at Week 48 in Proximal Lower Extremity Flexor StrengthProximal lower extremity flexor (knee extension and knee flexion) strength was measured using manual myometry. A higher score reflects a better outcome. A positive change from baseline indicates an improvement.Baseline, Week 48Baseline for the 6 Minute Walk Distance (6MWD)The 6MWD measured the distance a participant was able to traverse while walking for 6 minutes. A longer distance reflects a better outcome.BaselineChange From Baseline at Week 48 in 6 Minute Walk Distance (6MWD)The 6MWD measured the distance a participant was able to traverse while walking for 6 minutes. A longer distance reflects a better outcome. A positive change from baseline indicates an improvement. Based on the mixed-effect model of repeated measures (MMRM).Baseline, Week 48Percentage of Participants for Each Clinical Global Impression of Change (CGI-C) Assessment Status at Week 48The CGI-C was used to assess the participant's overall condition on a 7-point scale, using the status markers "very much improved, much improved, slightly improved, no change, slightly worse, much worse or very much worse" at Week 48 as compared to baseline.Baseline, Week 48Change From Baseline at Week 48 in 95th Percentile Stride VelocityStride velocity was recorded with the ActiMyo device in a subset of the overall study population. The ActiMyo device measures the daily movement and activity levels of the participant. The device consists of two sensors worn on each ankle. A higher velocity reflects a better outcome. A positive change from baseline indicates an improvement.Baseline, Week 48Number of Participants With Adverse Events (AEs)An adverse event is any untoward medical occurrence in a subject administered a pharmaceutical product and which does not necessarily have to have a causal relationship with the treatment. An adverse event can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding, for example), symptom, or disease temporally associated with the use of a pharmaceutical product, whether or not considered related to the pharmaceutical product. Preexisting conditions which worsen during a study are also considered as adverse events.During DB period (48 weeks) and Whole study (up to approximately 34 months)Number of Participants With AEs Leading to DiscontinuationAn adverse event is any untoward medical occurrence in a subject administered a pharmaceutical product and which does not necessarily have to have a causal relationship with the treatment. An adverse event can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding, for example), symptom, or disease temporally associated with the use of a pharmaceutical product, whether or not considered related to the pharmaceutical product. Preexisting conditions which worsen during a study are also considered as adverse events. Reported here is the number of participants with AEs that led to study discontinuation.During DB period (48 weeks) and Whole study (up to approximately 34 months)False611TrueFalseTrueFalse NCT02819557PTC124-GD-030-DMDPTC TherapeuticsINDUSTRYStudy of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy2020-08COMPLETEDThis is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to \<5 years old with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in the dystrophin gene.INTERVENTIONALInclusion Criteria: * Males ≥2 to \<5 years of age * Body weight ≥12 kg * Diagnosis of DMD * Nonsense mutation in at least 1 allele of the dystrophin gene Exclusion Criteria: * Participation in any other drug or device clinical investigation * Ongoing use of prohibited concomitant medicationsMALE2024-10-18T00:00:002016-06-162016-06-272020-08-122016-06-302020-08-282016-06-092018-02-092018-02-09trueThis is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to \<5 years old with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in the dystrophin gene.Duchenne Muscular DystrophyPHASE214Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs)A TEAE was any untoward medical occurrence or undesirable event that begins or worsens following administration of study drug, whether or not considered related to study drug by Investigator. An SAE was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying) or persistent or significant disability/incapacity not related to dystrophinopathy. An event was not reported as an SAE, if event was exclusively a relapse or expected change or progression of baseline dystrophinopathy. AEs included both SAEs and nonserious AEs. AEs classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 4.0 and coded using Medical Dictionary for Regulatory Activities. A summary of SAEs and all non-serious AEs, regardless of causality, is located in the Reported Adverse Events section.Baseline up to Week 56Number of Participants With a Clinically Meaningful Abnormal Clinical Laboratory (Biochemistry, Hematology, and Urinalysis) ParameterClinical laboratory results that were considered clinically meaningful were to be determined by the Investigator and Sponsor. Biochemistry parameters included sodium, potassium, chloride, bicarbonate, blood urea nitrogen, creatinine, magnesium, calcium, phosphorus, uric acid, glucose, total protein, albumin, bilirubin (total, direct, and indirect), aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transferase, creatine kinase, lactate dehydrogenase, alkaline phosphatase, total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, and cystatin C. Hematology parameters included white blood cell count with differential, hemoglobin, hematocrit, other red cell parameters, and platelet count. Urinalysis parameters included pH, specific gravity, glucose, ketones, blood, protein, urobilinogen, bilirubin, nitrite, and leukocyte esterase. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.Baseline up to Week 56Number of Participants With a Clinically Meaningful Abnormal Electrocardiogram (ECG) Test ResultsECG results that were considered clinically meaningful were to be determined by the Investigator. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.Baseline up to Week 56Number of Participants With a Dose-Limiting Toxicity as Measured by Hepatic and Renal ToxicityDose-limiting toxicity was measured through clinical evaluations for potential hepatic and renal toxicities. The clinical evaluations included the following: * Hepatic: The participant's medical history, hepatitis screening results, all clinical blood values (particularly serum bilirubin, gamma-glutamyl transferase \[GGT\], aspartate aminotransferase \[AST\], and alanine aminotransferase \[ALT\] values), and all concomitant medications were reviewed. * Renal: The participant's medical history, all clinical blood and urine renal values, serum electrolytes, medications, and potential pre- or post-renal conditions were reviewed.Baseline up to Week 56Pharmacokinetics: Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Cmax0-6hr)Ataluren concentrations in plasma were analyzed using a validated high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method.0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28Pharmacokinetics: Time to Reach Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Tmax0-6hr)Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28Area Under the Plasma Concentration Time Curve From Time Zero up to 10 Hours After the Morning Dose (AUC0-10hr)Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method. AUC0-10hr was measured using the linear trapezoidal rule during the ascending portion of the curve and the log-trapezoidal rule during the descending portion of the curve.0 (predose), 1, 2, 4, 6, 8, and 10 (postdose) hours on Days 1 and 28Pharmacokinetics: Concentration at the End of the First (Morning) Dose Interval (Ctrough6hr)Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTsTFTs included time to stand from supine position (rise to standing), time to run/walk 10 meters (m), and time to ascend/descend 4 stairs. A decrease from baseline reflects faster completion of the functional task and, thus, better muscle function. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression (PD), a value of 30 seconds was used.Baseline, Week 28 and Week 52Change From Baseline in Physical Function as Measured by the NSAANSAA consists of 17 activities, including items assessing abilities necessary to remain functionally ambulant (that is, ability to rise from floor, to get from lying to sitting/sitting to standing, and that are known to progressively deteriorate); items that can be partly present in DMD early stages (that is, assessing head raise and standing on heels); and a number of activities such as hopping, jumping, and running. Since the boys were \<5 years old, revised 16 point, 8-point, and 3-point scales were used over the 17 point scale. Scores for evaluations=0 (Unable to achieve independently), 1 (Modified method but achieved goal independent of physical assistance), or 2 (Normal, no obvious modification of activity). Maximum total score for the 16-point scale=32, 8-point scale=16, and 3-point scale=6. If an activity couldn't be performed due to PD/loss of ambulation, a score of 0 was assigned. Change from Baseline calculated by subtracting Baseline value from value at Week 28 and Week 52.Baseline, Week 28 and Week 52Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56Baseline, Weeks 4, 16, 28, 40, 52, and 56Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56Baseline, Weeks 4, 16, 28, 40, 52, and 56Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56Body mass index is an estimate of body fat based on body weight divided by height squared.Baseline, Weeks 4, 16, 28, 40, 52, and 56Ataluren Palatability Characteristics as Determined by a Parent/Caregiver QuestionnaireTo assess palatability characteristics, participants/parents or guardians were asked to provide a response of "Strongly disagree", "Disagree", "Neither agree or disagree", "Agree", or "Strongly Agree" to the following 3 questions: Question 1. "Is the medicine palatable?" Question 2. "On the basis of reaction / facial expression of your child, do you think that the medication is pleasant?" Question 3."You sometimes have problems in giving the medication to your child because he/she refuses to take it or throws it up?"Baseline up to Week 28False25FalseFalseFalseFalse NCT00207857Duchenne's Muscular DystrophyChildren's Healthcare of AtlantaOTHERTest-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy2015-02WITHDRAWNNearly all patients with Duchenne's Muscular Dystrophy (DMD) have scoliosis. Posterior instrumented spinal fusion, which is a surgery to correct scoliosis, has been shown to improve quality of life and satisfaction of both parents and families. The progressive muscular weakness leads to the development of scoliosis soon after the child has become unable to walk. The muscular weakness and scoliosis also affect the pulmonary function of these children. Pulmonary Function Tests (PFT) have been used to determine "pulmonary fitness" prior to surgery as a way to determine how well or if the child will tolerate surgery. Children with poor results on the PFT are determined to be too fragile to tolerate such a large operation. The physicians conducting this study feel that the PFT may be inaccurate and that this may not be the best single test to determine "pulmonary fitness". The physicians conducting the study think things like the time of day the study is done, how tired you are when you complete the test, and how well you understand the test may affect the results of the test.OBSERVATIONALInclusion Criteria: * Male * Duchenne's Muscular Dystrophy with diagnosed confirmed by a neurologist * No longer able to ambulate for any meaningful amount of time * No previous spinal operation Exclusion Criteria: * Any other type of muscular dystrophy or spinal muscular atrophy * Tracheotomy * Contractures of the upper extremities that would preclude using arm span as an estimation for height * Previous spinal surgery * Asthma, recurrent pneumonia, or other chronic lung diseaseMALE2024-10-18T00:00:002005-09-132005-09-132015-02-022005-09-212015-02-042004-032005-082005-08Nearly all patients with Duchenne's Muscular Dystrophy (DMD) have scoliosis. Posterior instrumented spinal fusion, which is a surgery to correct scoliosis, has been shown to improve quality of life and satisfaction of both parents and families. The progressive muscular weakness leads to the development of scoliosis soon after the child has become unable to walk. The muscular weakness and scoliosis also affect the pulmonary function of these children. Pulmonary Function Tests (PFT) have been used to determine "pulmonary fitness" prior to surgery as a way to determine how well or if the child will tolerate surgery. Children with poor results on the PFT are determined to be too fragile to tolerate such a large operation. The physicians conducting this study feel that the PFT may be inaccurate and that this may not be the best single test to determine "pulmonary fitness". The physicians conducting the study think things like the time of day the study is done, how tired you are when you complete the test, and how well you understand the test may affect the results of the test.Duchenne's Muscular Dystrophy;Scoliosis0PFT training2 weeksFalse621FalseFalseFalseFalse NCT061740252023/236Gaziantep Islam Science and Technology UniversityOTHERValidity and Reliability of the 6 Minute Pegboard Ring Test2023-05COMPLETEDThis study aimed to investigate the validity and reliability of 6PBRT in individuals with DMD and its applicability on these patients.OBSERVATIONALInclusion Criteria: * Volunteering to participate in the research, * Being diagnosed with Duchenne muscular dystrophy between the ages of 6-17, * Being Level 1 and 2 according to the Brooke Upper Extremity Functional Classification Scale * Having no problems reading and/or understanding the scales and cooperating with the tests to be. * Ability to sit independently for approximately 15 minutes during the evaluation Exclusion Criteria: * Not volunteering to participate in the research, * Having any orthopedic problem in the upper extremity, * A neurological disease or other clinical condition that may affect cognitive status having a diagnosis, * Having had surgery on the upper extremities in the last 6 months and any having an injury * At a level that prevents functional activities in the upper extremity Having severe contractures (joint restriction)MALE2024-10-18T00:00:002023-11-202023-12-072024-01-112023-12-182024-01-122023-06-302023-12-302024-01-01falseFalseFalseThis study aimed to investigate the validity and reliability of 6PBRT in individuals with DMD and its applicability on these patients.Duchenne Muscular Dystrophy226 Minute Pegboard and Ring TestThe 6-minute pegboard and ring test is used to assess upper extremity functional capacity. The patient sat in front of a perforated board with bottom pegs at shoulder level. The upper pegs are placed in the hole 20 cm above the lower pegs. 10 rings of the same size are placed on the lower pegs. The patient is asked to move as many rings as possible from the lower pegs to the upper pegs and vice versa within a 6-minute period. Pulse, blood pressure, SpO₂, dyspnea and arm fatigue detection are recorded before/after each test. Before the actual test, patients are allowed to move up and down the rings in a cycle to become familiar with the testing procedure. If the patient wants to rest during the test, he is allowed, but the stopwatch is not stopped. During the test, standard encouraging phrases are said to the patient at the end of each minute.A total of two measurements will be made at 1-week intervals within 6 months.Quick Shoulder-Hand Syndromes QuestionnaireThe Quick Shoulder-Hand Syndromes Questionnaire is used to evaluate musculoskeletal physical function and symptoms of the upper extremity. The survey consists of 11 items and is scored between 0-100 points. Higher scores indicate more disabilityA total of two measurements will be made at 1-week intervals within 6 months.Assessment of muscle strengthMuscle strength will be measured using a digital dynamometer (Manual Muscle Tester™), shoulder flexor, shoulder abductor, elbow extensor and elbow flexor muscle strength. Muscle tests will be repeated three times for each side and the highest value will be recorded in kg. Muscle strength will be calculated as percentages of expected values.A total of two measurements will be made at 1-week intervals within 6 months.The Pediatric Quality of Life InventoryThe health-related quality of life of the participants will be evaluated with the Turkish version PedsQL-3.0 Neuromuscular Module. The scale consists of 3 categories containing 25 items. These categories; It includes 17 items regarding the disease process and related symptoms, 3 items regarding communication skills, and 5 items regarding the family's financial and social support systems. The items of the scale are scored between 4 (always poses a problem) and 0 (never poses a problem). At the end of the scale, a score between 0 and 4 is made. A score close to 100 indicates that the health-related quality of life is at a better level.A total of two measurements will be made at 1-week intervals within 6 months.Brooke Upper Extremity Functional Classification ScaleIt will be used to evaluate the upper extremity functional level of the individuals who will be included in the study. It was developed to determine the functional level of the upper extremity in the clinical evaluation of DMD (11). The steps of this scale are as follows; Level 1: Begins to move with the arms at the sides and can fully clasp the hands above the head. Level 2: However, he can bring his arms above his head by flexing his elbows or use his accessory muscles Level 3: He cannot raise his hands above his head, but he can bring the glass to his mouth (uses both hands if necessary). Level 4: He can raise his hands to his mouth, but cannot lift a glass of water to his mouth. Level 5: Cannot raise hands to mouth, but can raise hands to hold a pen or pick up a coin from the table. Level 6: He cannot raise his hands up to his mouth and cannot use his hands functionally.A total of two measurements will be made at 1-week intervals within 6 months.False618FalseFalseFalseFalse NCT00758225SN T-II-001-ESanthera PharmaceuticalsINDUSTRYLong-term Safety, Tolerability and Efficacy of Idebenone in Duchenne Muscular Dystrophy (DELPHI Extension)2011-05COMPLETEDThe scientific aim of the present extension study is to monitor long-term safety and tolerability of idebenone in patients with DMD. Furthermore, the long-term effect on respiratory, cardiac and motor functions, and skeletal muscle strength/function will be assessed.INTERVENTIONALInclusion Criteria: * Completion of study SNT-II-001 * Body weight ≥ 25 kg * Glucocorticosteroids and ACE-inhibitors are allowed, if on stable dosage within 2 months prior to inclusion * Eligibility to participate in the present extension study as confirmed by the investigator Exclusion Criteria: * Safety or tolerability issues arising during the course of SNT-II-001 which in the opinion of the investigator preclude further treatment with idebenone * Clinically significant abnormalities of haematology or biochemistry * Abuse of drugs or alcohol * Use of coenzyme Q10 or idebenone within 30 days prior to inclusion * Intake of any investigational drug within 30 days prior to inclusion * Symptomatic heart failure * Previous history of ventricular arrhythmias (other than isolated ventricular extrasystole); ventricular arrhythmias presented at baseline * Known individual hypersensitivity to idebenone or to any of the excipientsMALE2024-10-18T00:00:002008-09-232008-09-232011-05-302008-09-252011-06-012008-092011-012011-01trueThe scientific aim of the present extension study is to monitor long-term safety and tolerability of idebenone in patients with DMD. Furthermore, the long-term effect on respiratory, cardiac and motor functions, and skeletal muscle strength/function will be assessed.Duchenne Muscular DystrophyPHASE221Measures of safety and tolerability of idebenone: - Nature and frequency of AEs - Laboratory parameters (haematology, biochemistry and urinalysis) - Physical examinations and vital signs - ECGsMonth 0, 3, 6, 12, 18, 24, FUMeasures of efficacy of idebenone: - Respiratory Function Testing - Motor Function Measure - Quantitative Muscle Testing - Hand-Held Myometry - Echocardiography and Color Doppler Myocardial Imaging - Cardiac biomarkersMonth 0, 6, 12, 18, 24FalseFalseFalseFalseFalse NCT04287582GO 19/323Hacettepe UniversityOTHERThe Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy2020-02UNKNOWNChildren with Duchenne Muscular Dystrophy (DMD) have difficulties towards the end of the ambulatory period, especially in activities that require lower extremity proximal muscle strength such as walking, climbing stairs, standing up without sitting. Stair climbing / descending activity is a complex activity that requires joint stability, correct muscle synergy and timing. When the literature is examined; It has been observed that the performance of stair climb up and down activity in individuals with neuromuscular disease has been evaluated with various clinical applications. In recent studies, there are surface electromyography (EMG) studies evaluating various aspects of stair climbing and descending activity. Surface EMG; is a technique for neuromuscular evaluations that is frequently used in both research and clinical applications, noninvasive, and can be used in areas such as neurophysiology, sports science and rehabilitation. Our study was planned to examine the muscle activations in the lower limb muscles involved in climbing up stairs activity in children with DMD and to compare healthy children with children with DMD and children with different levels of DMD. Hypothesis originating from the investigation: H0: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H1: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H2: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children. H3: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children.OBSERVATIONALInclusion Criteria: Children with DMD: * Having been diagnosed with Duchenne Muscular Dystrophy by a pediatric neurologist, * Volunteering to participate in the study, * Being in the 5-12 age range * According to the Brooke Lower Limb Functional Classification developed for classifying lower extremity functions of children with DMD, it should be between level 1-3 (children who continue ambulation and can go up and down with assisted / unassisted stairs), * To be able to cooperate with the instructions of the physiotherapist Healthy Group: * Not having a known acute or chronic illness * The children with DMD included in the study have similar demographic characteristics (age, height, weight, body mass index), * The physiotherapist should cooperate with the instructions. Exclusion Criteria: Children with DMD: * Have undergone any lower limb injuries and / or surgery, * Started steroid treatment in the last 6 months, * Having any systemic disease other than DMD, * Not having permission from his family and himself. Healthy Group: * Having had any injury and / or surgery , * Children with DMD have relatives, * Not having permission from his family and himselfMALE2024-10-18T00:00:002020-02-232020-02-252020-02-252020-02-272020-02-272019-04-032020-03-072020-04-01falseFalseFalseChildren with Duchenne Muscular Dystrophy (DMD) have difficulties towards the end of the ambulatory period, especially in activities that require lower extremity proximal muscle strength such as walking, climbing stairs, standing up without sitting. Stair climbing / descending activity is a complex activity that requires joint stability, correct muscle synergy and timing. When the literature is examined; It has been observed that the performance of stair climb up and down activity in individuals with neuromuscular disease has been evaluated with various clinical applications. In recent studies, there are surface electromyography (EMG) studies evaluating various aspects of stair climbing and descending activity. Surface EMG; is a technique for neuromuscular evaluations that is frequently used in both research and clinical applications, noninvasive, and can be used in areas such as neurophysiology, sports science and rehabilitation. Our study was planned to examine the muscle activations in the lower limb muscles involved in climbing up stairs activity in children with DMD and to compare healthy children with children with DMD and children with different levels of DMD. Hypothesis originating from the investigation: H0: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H1: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between level 1 and level 2-3 children with early DMD. H2: There is no difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children. H3: There is a difference in the muscle activations measured by surface electromyography (EMG) of the involved lower extremity muscles during climbing up stairs activity between children with DMD and healthy children.Duchenne Muscular Dystrophy30Surface Electromyographic MeasurementMuscle Activation Measurement It is an 8-channel system for measuring signals come from muscles (Delsys)40 minutesMuscle Strength MeasurementA quantitative and objective method for assessment of muscular strength using a portable hand held dynamometer. Muscle strength measurement included lower limb and trunk muscles.15 minutesTimed Performance TestTimed function tests included time taken to stand from a supine position, time taken to walk 10 m, time taken to climb 4 standard-sized stairs and time taken to descend 4 standard-sized stairs.20 minutesMuscle shortness assessmentShortening assessment of trunk and lower extremity muscles measurement included back extensors, hamstring, hip flexors, quadriceps and gastrocnemius muscles.10 minutesSix minute walk testChildren were asked to walk during 6 minutes as fast as possible at a 25 meter corridor.6 minutesTrue512FalseFalseFalseFalse NCT06244082AOC 1044-CS2Avidity Biosciences, Inc.INDUSTRYPh2 Open-label Study of AOC 1044 in Duchenne Muscular Dystrophy Participants with Mutations Amenable to Exon44 Skipping2024-09RECRUITINGAOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Pharmacodynamics and Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.INTERVENTIONALKey Inclusion Criteria Rollover Participants: * Satisfactorily completed AOC 1044-CS1 (EXPLORE44) as determined by the Investigator and Sponsor * No significant tolerability issues with AOC 1044 De novo Participants: * Aged 7 to 27 years, inclusive, at the time of informed consent * Clinical diagnosis of DMD or clear onset of DMD symptoms at or before the age of 6 years * Confirmation of DMD gene mutation amenable to exon 44 skipping * Weight ≥ 23 kg * Ambulatory or non-ambulatory * Ambulatory participants: LVEF ≥50% and FVC≥50% * Non-ambulatory participants: LVEF ≥45% and FVC≥40% * PUL 2.0 entry item A ≥3 * If on corticosteroids, stable dose for 30 days before screening and throughout the study Key Exclusion Criteria Rollover Participants: * Presence of any new condition or worsening of existing condition that could affect a participant\&#39;s safety or ability to comply with study procedures De novo Participants: * Serum hemoglobin \&lt; lower limit of normal * Uncontrolled hypertension or diabetes * Prior treatment with any cell or gene therapy * Prior treatment with another exon 44 skipping agent within 6 months prior to informed consent * Recently treated with an investigational drug * History of multiple drug allergiesMALE2024-10-18T00:00:002024-01-262024-02-022024-09-202024-02-062024-09-232024-01-222025-12-312026-12-31trueTrueFalseAOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Pharmacodynamics and Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.DMD;Duchenne Muscular Dystrophy;Duchenne;Exon 44PHASE235Change from baseline to biopsy visit in dystrophin protein level as measured in skeletal muscle by western blotBaseline collection in AOC 1044-CS1 to 8 months after targeted dose starts in AOC 1044-CS2Incidence of treatment emergent adverse events (TEAEs)Through study completion (approximately 2 years)Change from baseline to biopsy visit in dystrophin protein levels as measured in skeletal muscle by mass spectrometryBaseline collection in AOC 1044-CS1 to 8 months after targeted dose starts in AOC 1044-CS2.Change from baseline to biopsy visit in exon skipping as measured in skeletal muscleBaseline collection in AOC 1044-CS1 to 8 months after targeted dose starts in AOC 1044-CS2.False727FalseFalseFalseTrue NCT02636686BMN-051-302BioMarin PharmaceuticalINDUSTRYExtension Study of Drisapersen in DMD Subjects2018-01NO_LONGER_AVAILABLEThis is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.EXPANDED_ACCESSInclusion Criteria: 1. Any subject who has been previously treated with an exon 51 skipping antisense oligonucleotide (drisapersen or eteplirsen) and is not eligible for another ongoing drisapersen study. Subjects who withdrew from the previous studies due to meeting laboratory safety stopping criteria may be eligible to enroll if: 2. The laboratory parameters that led to stopping have resolved; benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the Medical Monitor. 3. Subjects with DMD mutation/deletion within the dystrophin gene and correctable by drisapersen-induced DMD exon 51 skipping. 4. Male subjects age \>5 at screening in whom the investigator considers treatment with drisapersen is likely to lead to improvement or prevent worsening of the condition. 5. Continued use of glucocorticoids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on glucocorticoids for the duration of this study. Changes to or cessation of glucocorticoids will be at the discretion of the investigator conducting this study in consultation with the subject/parent and Medical Monitor. 6. Willing and able to comply with all study requirements and procedures (with the exception of those assessments requiring a subject to be ambulant, for those subjects who have lost ambulation). 7. Able to give informed assent and/or consent in writing by the subject and/or parent(s)/legal guardian (according to local regulations) Exclusion Criteria: 1. Subjects who have previously been treated with drisapersen and who had a serious adverse experience or who met safety stopping criteria that remains unresolved, which in the opinion of the investigator could have been attributable to drisapersen. Once resolved, subject may be eligible to enter the study following investigator consultation with the Medical Monitor. 2. Use of anticoagulants, anti-thrombotics or antiplatelet agents within 28 days of the first re-dosing of drisapersen. Chronic use of anticoagulants, anti-thrombotics or antiplatelet agents is prohibited during the study. As needed dosing (pro re nata - PRN) may be acceptable (except for aspirin) following discussion with the Medical Monitor. 3. Participation in any investigational clinical trial within 3 months prior to start or during this study (except for other drisapersen studies). If subjects have participated in any other study within the last 6 months this should be discussed with the Medical Monitor prior to start of this study. 4. History of significant medical disorder which may confound the interpretation of safety data (e.g. current or history of renal or liver disease/impairment, history of inflammatory illness) 5. Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \<45% at start of this study, the investigator should discuss inclusion of subject in this study with the Medical Monitor. 6. A platelet count under the lower limit of normal (LLN) at start of this study. A re-test is possible at a later stage, and if within normal range, the subject may enter the study.MALE2024-10-18T00:00:002015-12-092015-12-172018-01-192015-12-222018-01-24This is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.Duchenne Muscular DystrophyFalseFalseFalseFalse NCT03589573GO 16/740-1Hacettepe UniversityOTHEREffect of Muscle Strength on Hamstring Flexibility in Children With Duchenne Muscular Dystrophy2018-07COMPLETEDInvestigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.OBSERVATIONALInclusion Criteria: * Getting a Duchenne Muscular Dystrophy diagnosis, * Being in ambulatuar phases and independently climbing four stairs * To be cooperate to physioterapist's directions Exclusion Criteria: * Having severe contracture in the lower extremity * Having undergone surgery in the past 6 monthsMALE2024-10-18T00:00:002018-07-052018-07-052018-07-272018-07-182018-07-312017-03-242017-09-252018-01-01FalseFalseInvestigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy;Muscle Strength;Lower Extremity;Hamstring Contractures30popliteal angle testThe popliteal angle test was performed to assess hamstring flexibility. The popliteal angle was measured in a supine position and the hip flexed 90°, and fixed by first physical therapist. Opposite knee and hip were placed in extension position. Then, the child was asked to rise lower leg straight. The incomplete angle for full extension of the knee was the popliteal angle.5 minutetrunk and lower extremity muscle strength testTrunk and lower extremity muscle strength was assessed manual muscle strength and myometer. Any test was performed three times and best value was recorded.20 minuteFalse518FalseFalseFalseFalse NCT01847573HALO-DMD-01Processa PharmaceuticalsINDUSTRYSafety, Tolerability, and Pharmacokinetics of Single and Multiple Doses of HT-100 in Duchenne Muscular Dystrophy2019-03TERMINATEDThe main purpose of this study is to test the safety and tolerability of different, increasing doses of an experimental medication called HT-100 in boys and young men with Duchenne muscular dystrophy (DMD). The study medication, HT-100, is a medicine that may help promote healthy muscle regeneration, diminish inflammation and the resulting damage to muscle, and decrease the scar tissue that forms in the muscles of children with DMD. In this study, pharmacokinetic sampling, or measurements of the amount of HT-100 in the bloodstream will also be taken.INTERVENTIONALMain Inclusion Criteria: * Ambulatory or non-ambulatory * Diagnosis of DMD with confirmation of minimal to no dystrophin * Corticosteroid naive or on therapy for at least 12 months (stable dose and regimen) Main Exclusion Criteria: * Recent, substantial change in use of cardiac medications or medications affecting muscle function * Inability to undergo magnetic resonance imaging (MRI) * Significantly compromised cardio-respiratory function * Prior treatment with another investigational product in past 6 monthsMALE2024-10-18T00:00:002013-05-022013-05-062020-08-312013-05-072020-09-032013-052016-03-302016-03-30trueThe main purpose of this study is to test the safety and tolerability of different, increasing doses of an experimental medication called HT-100 in boys and young men with Duchenne muscular dystrophy (DMD). The study medication, HT-100, is a medicine that may help promote healthy muscle regeneration, diminish inflammation and the resulting damage to muscle, and decrease the scar tissue that forms in the muscles of children with DMD. In this study, pharmacokinetic sampling, or measurements of the amount of HT-100 in the bloodstream will also be taken.Duchenne Muscular DystrophyPHASE1PHASE217Safety and tolerability of administering single and multiple ascending doses of HT-100 in DMD boysSafety profile by review of adverse events (AEs), physical examination findings, clinical laboratory test results, and other diagnostic testing1 weekPharmacokinetic plasma profile of halofuginone after single and multiple dose administration of HT-100 in DMD boysHalofuginone plasma concentrations1 weekSafety and tolerability of administering multiple ascending doses of HT-100 in DMD boys over 4 weeksSafety profile by review of AEs, physical examination findings, clinical laboratory test results, and other diagnostic testing4 weeksEarly pharmacodynamic signals of HT-100 after 4 weeks of continuous dosing in DMD boysPharmacodynamic measures relevant to DMD pathology: * Pulmonary function * Motor function * Muscle composition * Biochemical and imaging markers4 weeksFalse620FalseFalseFalseTrue NCT06491927RGX-202-5101REGENXBIO Inc.INDUSTRYLong Term Follow-up for RGX-2022024-07ENROLLING_BY_INVITATIONRGX-202-5101 is a long-term follow up study that evaluates the long term safety and efficacy of RGX-202 in participants who have received RGX-202 (a gene therapy designed to deliver a transgene for novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain) in a separate parent study.OBSERVATIONALInclusion Criteria: * The parent(s) or legal guardian(s) of the participant has/(have) provided written informed consent and (where applicable) Health Insurance Portability and Accountability Act (HIPAA) authorization after the nature of the study has been explained, prior to any research-related procedures; and, where applicable, the minor participant has provided written or verbal assent according to local requirements. * Must have undergone evaluation in a previous clinical study following a single IV infusion of RGX-202 for the treatment of DMD and either completed or withdrawn early from that study. * Participant and parent(s)/legal guardian(s) are willing and able to comply with scheduled visits, and study procedures. * Sexually active participants must be willing to use a medically accepted method of contraception from the time of the screening visit through 5 years after RGX-202 administration. Exclusion Criteria: * No exclusion criteria apply in this observational follow up study.MALE2024-10-18T00:00:002024-07-012024-07-012024-07-012024-07-092024-07-092024-05-082029-12-012029-12-01TrueFalseRGX-202-5101 is a long-term follow up study that evaluates the long term safety and efficacy of RGX-202 in participants who have received RGX-202 (a gene therapy designed to deliver a transgene for novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain) in a separate parent study.Duchenne Muscular Dystrophy19Evaluation of long-term safety of RGX-202Incidences of AEs and SAEs over time5 years inclusive of parent studyEfficacy measured by change in Functional AssessmentLongitudinal trajectory (mean and change from baseline) in North Star Ambulatory Assessment (NSAA) raw and linear score5 years inclusive of parent studyFalseFalseFalseFalse NCT03179631PTC124-GD-041-DMDPTC TherapeuticsINDUSTRYLong-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy2024-01COMPLETEDThis study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Male sex * Age ≥5 years * Phenotypic evidence of Duchenne Muscular Dystrophy * Nonsense point mutation in the dystrophin gene * Use of systemic corticosteroids (prednisone/prednisolone or deflazacort)for a minimum of 12 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen for a minimum of 3 months immediately prior to start of study treatment * 6MWD ≥150 meters * Ability to perform timed function tests within 30 seconds * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: * Any change in prophylaxis treatment for cardiomyopathy within 1 month prior to start of study treatment. * Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy. * Prior or ongoing therapy with ataluren. * Known hypersensitivity to any of the ingredients or excipients of the study drug * Exposure to another investigational drug within 6 months prior to start of study treatment, or ongoing participation in any interventional clinical trial. * History of major surgical procedure within 12 weeks prior to start of study treatment, or expectation of major surgical procedure during the 72-week placebo-controlled treatment period. * Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. * Uncontrolled clinical symptoms and signs of congestive heart failure * Elevated serum creatinine or cystatin C at screening.MALE2024-10-18T00:00:002017-06-012017-06-052024-01-162017-06-072024-01-182017-07-062022-03-052023-07-25TrueFalseThis study is a long-term study of ataluren in participants with nonsense mutation Duchenne muscular dystrophy.Muscular Dystrophy, Duchenne;Muscular Dystrophies;Muscular Disorders, Atrophic;Muscular Diseases;Musculoskeletal Disease;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, X-Linked;Genetic Diseases, InbornPHASE3360Slope of Change in 6-Minute Walk Distance (6MWD) Over 72 Weeks72 weeksChange from Baseline to Week 72 in 6MWDBaseline, Week 72Change from Baseline to Week 72 in Time to Run/Walk 10 MetersBaseline, Week 72Change from Baseline to Week 72 in Time to Climb 4 StairsBaseline, Week 72Change from Baseline to Week 72 in Time to Descend 4 StairsBaseline, Week 72Change from Baseline to Week 72 in North Start Ambulatory Assessment (NSAA) Total ScoreBaseline, Week 72Time to Loss of Ambulation Over 72 Weeks72 weeksTime to Loss of Stair-Climbing Over 72 Weeks72 WeeksTime to Loss of Stair-Descending Over 72 Weeks72 weeksRisk of Loss of NSAA Items Over 72 weeks72 weelsNumber of Treatment-Emergent Adverse Events Considered Related to Study Drug72 weeksFalse5TrueFalseFalseFalse NCT00243789CNMC0705Cooperative International Neuromuscular Research GroupNETWORKStudy of Daily Pentoxifylline as a Rescue Treatment in Duchenne Muscular Dystrophy2011-10COMPLETEDThe purpose of this study is to see if male children with Duchenne muscular dystrophy (DMD) have changes in strength when given the drug Pentoxifylline as a rescue treatment. A total of 64 subjects are expected to participate through all other centers of the Cooperative International Neuromuscular Research Group (CINRG) worldwide. The primary purpose of this study is to see whether the addition of pentoxifylline to a steroid regimen is effective in treating deteriorating muscle strength by comparing the muscle strength of PTX treated subjects and placebo treated subjects.INTERVENTIONALInclusion Criteria: * Male * Age 7 years to 100 years * Ability to ambulate for 10 meters. Assistive devices are allowed. * Diagnosis of DMD confirmed by at least one the following: * On stable dose of prednisone, prednisolone or deflazacort for at least 12 months prior to screening. * Participants who are on stable dose of any combination of the following compounds (creatine, glutamine, coenzyme Q10, vitamin E, C or D, JUVEN, arginine, calcium) must have taken these medications for at least 2 months prior to screening. Subjects are not required to take these medications to participate in the study. * All other herbs, supplements or green tea (other than those noted above) have been discontinued 3 months prior to screening. * Ability to provide reproducible QMT bicep score with no more than 15% variation between scores during screening. * Normal blood clotting ability evidenced by a platelet function assessment (PFA). Exclusion Criteria: * Currently enrolled in another treatment clinical trial. * History of significant concomitant illness or significant impairment of renal or hepatic function. * History of impairment of blood clotting ability (as evidenced by increased PT/PTT or PFA over the upper limit of normal (ULN)). * Recent cerebral or retinal hemorrhage. * History of bleeding diathesis or gastric ulcer.MALE2024-10-18T00:00:002005-10-212005-10-212011-10-262005-10-252011-10-272005-092007-122008-01trueThe purpose of this study is to see if male children with Duchenne muscular dystrophy (DMD) have changes in strength when given the drug Pentoxifylline as a rescue treatment. A total of 64 subjects are expected to participate through all other centers of the Cooperative International Neuromuscular Research Group (CINRG) worldwide. The primary purpose of this study is to see whether the addition of pentoxifylline to a steroid regimen is effective in treating deteriorating muscle strength by comparing the muscle strength of PTX treated subjects and placebo treated subjects.Muscular Dystrophy, DuchennePHASE1PHASE264Quantitative muscle strength will be measured using a CINRG Quantitative Muscle System (CQMS). The highest value of two consecutive maximal efforts will be recorded. The primary strength endpoint will be total CQMS score.January 2008Strength of arm, leg and grip QMT scores Measured Screening and Months 1, 3, 6, 9 & 12January 2008Manual Muscle Testing (MMT) score measured at screening and months 1, 3, 6, 9 & 12 using the Medical Research Council (MRC) scoring system.January 2008Functional evaluations measured at screening and months 1, 3, 6, 9 & 12January 2008Time function assessments, including time rising from the floor, time to climb four standard stairs, and time to walk 10 meters. They will be measured at screening and months 1, 3, 6, 9 & 12.January 2008pulmonary function test (PFA's) measured at screening and months 1, 3, 6, 9 & 12January 2008Pediatric Quality of Life (PQOL) measured at screening and months 1, 3, 6, 9 & 12January 2008Goniometry measured at screening and months 1, 3, 6, 9 & 12January 2008TNF-alpha and TGF-beta measured at screening and months 1, 3, 6, 9 & 12February 2008False7TrueFalseFalseFalse NCT021096929184University Hospital, MontpellierOTHEREvaluation of Muscle miRNA as Biomarkers in Dystrophinopathies2018-05UNKNOWNDuchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child. Although the development is rapidly progressive , there is variability in the severity of the disease between DMD patients that do not correlate with the type of mutations in the DMD gene. There are no easily measurable biomarkers for monitoring the DMD or moderate form of the disease, Becker muscular dystrophy (BMD ) . MicroRNAs (miRNAs) are involved in most cellular processes , and their expression pattern is a signature of the state of a cell . They represent a potential class of diagnostic and prognostic biomarkers. Some are specific for the skeletal myogenesis , and changes in their pattern of expression are associated with muscle diseases including muscular dystrophy. The levels of muscle- specific miRNAs are indeed greatly increased in the serum of DMD and BMD compared to control patients . The main objective of this is to validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects). Secondary objectives are i) to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy (DMD vs BMD) and also the progression of the disease (longitudinal study), ii) to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy), iii) to test candidate miRNAs recently identified but not yet analyzed in the serum of patients. Clinical data and samples will be recorded at each regular consultation. miRNA levels will be quantified using Real Time Quantitative RT-PCR.INTERVENTIONALInclusion Criteria: * Patient suffers from dystrophinopathy or other muscle dystrophy, * Healthy volunteers * signed informed consent * social insurance Exclusion Criteria: * patients or parents have not signed the informed consent,ALL2024-10-18T00:00:002014-04-022014-04-072018-05-092014-04-102018-05-152014-05-192018-112019-11trueDuchenne muscular dystrophy (DMD) , caused by mutations in the DMD gene, is the most common and most severe progressive dystrophy of the child. Although the development is rapidly progressive , there is variability in the severity of the disease between DMD patients that do not correlate with the type of mutations in the DMD gene. There are no easily measurable biomarkers for monitoring the DMD or moderate form of the disease, Becker muscular dystrophy (BMD ) . MicroRNAs (miRNAs) are involved in most cellular processes , and their expression pattern is a signature of the state of a cell . They represent a potential class of diagnostic and prognostic biomarkers. Some are specific for the skeletal myogenesis , and changes in their pattern of expression are associated with muscle diseases including muscular dystrophy. The levels of muscle- specific miRNAs are indeed greatly increased in the serum of DMD and BMD compared to control patients . The main objective of this is to validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects). Secondary objectives are i) to investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathy (DMD vs BMD) and also the progression of the disease (longitudinal study), ii) to assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy), iii) to test candidate miRNAs recently identified but not yet analyzed in the serum of patients. Clinical data and samples will be recorded at each regular consultation. miRNA levels will be quantified using Real Time Quantitative RT-PCR.Muscular Dystrophies;Becker Muscular Dystrophy;Duchenne Muscular DystrophyNA186Quantity of serum muscle-derived microRNAs of DMD patientsTo validate the use of serum muscle-derived microRNAs as biomarkers of DMD patients (compared with healthy subjects)up to 12 monthsseverity of the dystrophinopathyto investigate the relationship between circulating levels of these miRNAs and the severity of the dystrophinopathyup to 36 monthsprogression of the diseaseto investigate the relationship between circulating levels of these miRNAs and the progression of the diseaseup to 36 monthsspecificitiy of miRNA for distrophinopathyto assess the specificity of these markers for dystrophinopathy (comparison with other patients with muscular dystrophy)up to 36 monthsTrue1880FalseFalseFalseFalse NCT00033189PTC124-GD-045-DMDPTC TherapeuticsINDUSTRYA Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)2022-02COMPLETEDThis study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD. The study will evaluate the levels of dystrophin before and after 40 weeks of ataluren therapy using muscle biopsies and 2 validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.INTERVENTIONALInclusion Criteria: * Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. * Phenotypic evidence of duchenne muscular dystrophy (DMD) based on the onset of characteristic clinical symptoms or signs (for example, proximal muscle weakness, waddling gait, and Gowers' maneuver) and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the Sponsor's medical monitor. * Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing. Review and approval of documentation by sponsor or designee is required prior to enrollment. * Willing to undergo muscle biopsy. Exclusion Criteria: * Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy. * Known contra-indication to muscle biopsy (such as bleeding or clotting disorders). * Prior or ongoing therapy with ataluren. * Known hypersensitivity to any of the ingredients or excipients of the study drug (for example, refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate). * Exposure to another investigational drug within 2 months prior to start of study treatment, or ongoing participation in any interventional clinical trial. * Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed. * Elevated serum creatinine or cystatin C levels at screening. * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder), medical history, physical findings or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002018-08-242018-08-242022-03-102018-08-272022-04-052018-12-212020-10-232020-10-23falseTrueFalseThis study is designed to evaluate the ability of ataluren to increase dystrophin protein levels in muscle cells of participants with nmDMD. The study will evaluate the levels of dystrophin before and after 40 weeks of ataluren therapy using muscle biopsies and 2 validated assay methods, electrochemiluminescence (ECL) and immunohistochemistry.Duchenne Muscular DystrophyPHASE220Percent Change From Baseline in Dystrophin Level at Week 40, as Measured by ECLThe percent change in dystrophin level from baseline in ambulatory nonsense mutation duchenne muscular dystrophy (nmDMD) participants after treatment with ataluren for 40 weeks was analyzed using quantitative assay (ECL).The least square (LS) mean and 90% confidence interval (CI) were analyzed from a mixed-model repeated measures (MMRM) with factors of muscle locations and visits as fixed effects, and participants as a random effect.Baseline, Week 40Percent Change From Baseline in Dystrophin Level at Week 40, as Determined by Immunohistochemistry (IHC) Membrane Stain DensityThe percent change in dystrophin level from baseline in ambulatory nmDMD participants after 40 weeks of ataluren therapy was determined by IHC membrane stain density. The LS mean and 90% CI were analyzed from an MMRM with factors of muscle locations and visits as fixed effects, and participants as a random effect.Baseline, Week 40False27FalseFalseFalseFalse NCT05291091EDG-5506-201Edgewise Therapeutics, Inc.INDUSTRYPhase 2 Study of EDG-5506 in Becker Muscular Dystrophy (GRAND CANYON)2024-09RECRUITINGA study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker. CANYON is fully enrolled; GRAND CANYON is currently enrolling.INTERVENTIONALThe CANYON Study including the adolescent cohorts are fully enrolled. GRAND CANYON eligibility is listed below. Key Inclusion Criteria: 1. Adults (aged 18 to 50 years, inclusive) with a documented dystrophin mutation and phenotype consistent with Becker muscular dystrophy, and history of being ambulatory beyond 16 years of age without steroids; history of being ambulatory beyond 18 years of age with steroids. 2. Able to complete the 100-meter timed test in \< 200 seconds with or without use of mobility aid devices. 3. Able to perform the North Star Ambulatory Assessment scale and achieve a score of 5 to 32, inclusive. Key Exclusion Criteria: 1. Medical history or clinically significant physical examination/laboratory result that, in the opinion of the investigator, would render the participant unsuitable for the study. This includes contraindications to magnetic resonance imaging such as non-compatible implanted medical devices or severe claustrophobia. 2. Cardiac echocardiogram ejection fraction \< 40% 3. Forced vital capacity predicted \<60% or using daytime ventilatory support 4. Receipt of oral corticosteroids for the treatment of BMD in the previous 6 months. 5. Receipt of an investigational drug within 30 days or 5 half-lives (whichever is longer) of the screening visit in the present study.MALE2024-10-18T00:00:002022-03-142022-03-142024-09-172022-03-222024-09-192022-07-062026-062026-06trueTrueFalseA study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker. CANYON is fully enrolled; GRAND CANYON is currently enrolling.Becker Muscular DystrophyPHASE2170Number of adverse events in those treated with sevasemten or placeboAll participants12 months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)Severity of adverse events in those treated with sevasemten or placeboAll participants12 months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)Change from Baseline in serum Creatine KinaseAdult participants12 Months (CANYON Cohorts 1, 2)Change from Baseline in the North Star Ambulatory Assessment scaleAdult participants18 months (GRAND CANYON Cohort 6)Change from Baseline in the protein fast skeletal muscle Troponin IAdult participants12 months (CANYON Cohorts 1, 2), 18 months (GRAND CANYON Cohort 6)Change from Baseline in the North Star Ambulatory Assessment scaleAdult participants12 Months (CANYON Cohorts 1, 2)Change from Baseline in the North Star Assessment for Limb-Girdle Type Muscular Dystrophies scaleAdult participants12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)Change from Baseline in the 10-meter walk/run testAdult participants12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)Change from Baseline in 100-meter timed testAdult participants12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)Change from Baseline in stride velocity (95th percentile)Adult participants18 Months (GRAND CANYON Cohort 6)Pharmacokinetics as measured by steady state plasma concentrationAll participants12 Months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)Change from Baseline in growth as assessed by height centile on World Health Organization growth chartsAdolescent participants12 months (CANYON Cohorts 4, 5)Month 18 change from Baseline in fat fraction of upper leg muscles as assessed by Magnetic Resonance ImagingAdult participants18 months (GRAND CANYON Cohort 6)False1250TrueFalseFalseFalse NCT02470962DMD-HerzUniversity Children's Hospital, ZurichOTHERCardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy2019-07UNKNOWNThis study evaluates the function of the heart in young patients with muscular dystrophy type Duchenne or Becker. Participants have their hearts examined at regular intervals by ultrasound (echocardiography) and cardiac magnetic resonance imaging.OBSERVATIONALInclusion Criteria: * Boys aged 8 to 18 years with DMD/BMD confirmed genetically or by muscle biopsy * Informed consent Exclusion Criteria: * Other clinically significant concomitant disease states (e.g., renal failure) * Inability to follow the procedures of the study, e.g. due to language problems, psychological disorders, dementia, etc. of the participant or his/her parents or legal caregivers, * Inability to lie still for the duration of the imaging procedures (approximately 45 minutes each for echocardiography and CMR) * MR-incompatible implanted or accidentally incorporated metal device or claustrophobia that prohibits use of magnetic resonance imagingMALE2024-10-18T00:00:002015-06-102015-06-112019-07-112015-06-122019-07-122015-052020-042020-04falseThis study evaluates the function of the heart in young patients with muscular dystrophy type Duchenne or Becker. Participants have their hearts examined at regular intervals by ultrasound (echocardiography) and cardiac magnetic resonance imaging.Duchenne / Becker Muscular Dystrophy40Left ventricular ejection fraction3 years per patientQuantification of fibrosis by LGE/T1 mapping3 years per patientNT-proBNP3 years per patientTrue818FalseFalseFalseFalse NCT04768062NS-065/NCNP-01-302NS Pharma, Inc.INDUSTRYStudy to Assess the Safety and Efficacy of Viltolarsen in Ambulant Boys With DMD (RACER53-X)2024-02ACTIVE_NOT_RECRUITINGThis is a Phase 3, multi-center, open-label extension study in ambulant boys with DMD who have completed the 48-week treatment period of either viltolarsen or placebo in Study NS-065/NCNP-01-301.INTERVENTIONALInclusion Criteria: 1. Patient has completed the NS-065/NCNP-01-301 study; 2. Patient's parent(s) or legal guardian(s) has (have) provided written informed consent and Health Insurance Portability and Accountability Act authorization, where applicable, prior to any study-related procedures; patients will be asked to give written or verbal assent according to local requirements; 3. Patient and parent(s)/guardian(s) are willing and able to comply with scheduled visits, investigational product (IP) administration plan, and study procedures. Exclusion Criteria: 1. Patient had an adverse event in Study NS-065/NCNP-01-301 that, in the opinion of the investigator and/or the sponsor, precludes safe use of viltolarsen for the patient in this study; 2. Patient had a treatment which was made for the purpose of dystrophin or dystrophin-related protein induction after completion of Study NS-065/NCNP-01-301; 3. Patient took any other investigational drug(s) during or after completion of Study NS-065/NCNP-01-301; 4. Patient is judged by the investigator and/or the sponsor not to be appropriate to participate in the extension study for any reason.MALE2024-10-18T00:00:002021-02-192021-02-232024-02-132021-02-242024-02-142021-04-132025-102025-11TrueFalseThis is a Phase 3, multi-center, open-label extension study in ambulant boys with DMD who have completed the 48-week treatment period of either viltolarsen or placebo in Study NS-065/NCNP-01-301.Duchenne Muscular DystrophyPHASE374Number of participants with treatment related Adverse Events as assessed by CTCAE v4.03baseline to up to 96 weeks of treatmentTime to Stand Test (TTSTAND)Change in Time to Standbaseline to 96 weeks of treatmentTime to Run/Walk 10 Meters Test (TTRW)Change in Time to Run/Walk 10 metersbaseline to 96 weeks of treatmentSix-minute Walk Test (6MWT)Change in Six-minute Walkbaseline to 96 weeks of treatmentNorth Star Ambulatory Assessment (NSAA)Change in North Star Ambulatory Assessmentbaseline to 96 weeks of treatmentTime to Climb 4 Stairs Test (TTCLIMB)Change in Time to Climb 4 Stairsbaseline to 96 weeks of treatmentMuscle Strength Measured by Hand-Held DynamometerChange in Muscle Strength Measured by Hand-Held Dynamometerbaseline to 96 weeks of treatmentFalseFalseFalseTrueFalse NCT02078076C13-04Institut National de la Santé Et de la Recherche Médicale, FranceOTHER_GOVIRM Cardiaque en Respiration Libre Pour Des Patients Atteints de Dystrophinopathie sévère2016-02COMPLETEDClinical, prospective and monocentric study aiming at assessing the feasibility of fibrosis detection and quantification (and of function assessment) during MRI without breath-holds in a population of adults and children with Duchenne myopathy.INTERVENTIONALInclusion Criteria: * Dystophinopathy (Duchenne or severe Becker) * \>8yo * with social insurance * informed consent Exclusion Criteria: * arythmia * impossibility to undergo an MRI (pacemaker, ....)ALL2024-10-18T00:00:002013-06-032014-03-032016-02-232014-03-052016-02-242013-062015-112015-11falseClinical, prospective and monocentric study aiming at assessing the feasibility of fibrosis detection and quantification (and of function assessment) during MRI without breath-holds in a population of adults and children with Duchenne myopathy.Duchenne or Severe Becker MyopathyNA22Number of exams correctly acquired (feasabiliy of the exam)Was it possible to acquire the whole examination for every patient ?after the last inclusionNumber of exams allowing a qualitative assessment of images by the physicianThe image quality allows a qualitative diagnosis ?after the last MRI examNumber of exams allowing a quantitative assessment of the diagnosisDid the image quality allow a quantitative assessment of the diagnosis ?after the last MRI examinationNumber of anatomic cardiac segments with significant fibrosis according to the assessment methods (conventional LGE, qualitative detection with GRICS, and quantiative measure with GRICS)correlation between fibrosis information (conventional LGE, qualitative detection with GRICS, and quantiative measure with GRICS)after the last inclusionNumber of cardiac segments with fibrosis and/or regional dysfunctionCorrelation between fibrosis and regional function for each cardiac segmentafter the last inclusionFalse8FalseFalseFalseFalse NCT04428476CAP-1002-DMD-02-OLECapricor Inc.INDUSTRYOpen-label Extension of the HOPE-2 Trial2024-07ACTIVE_NOT_RECRUITINGThis Phase 2, multi-center, open-label extension trial will provide CAP-1002 to subjects that were enrolled in the HOPE-2 trial and completed 12 months of follow-up. The trial will explore the safety and efficacy of sixteen intravenous administrations of CAP-1002, each separated by three months. Subjects will undergo a targeted screening during a 30-day screening period, eligible subjects will then undergo baseline safety and efficacy assessments on Day 1 prior to their first infusion of CAP-1002. Subjects will complete trial assessments at Screening; Day 1; Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42, 45 and 48. Safety and efficacy assessments will be conducted prior to CAP-1002 administration at the Day 1, Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42 and 45 trial visits, unless otherwise indicated. All CAP-1002 infusions will be conducted in an outpatient setting at the investigative site on Day 1 and Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42 and 45. Subjects will be observed in the outpatient setting for at least two hours post infusion and then discharged the same day, if medically cleared by the site Investigator.INTERVENTIONALInclusion Criteria: 1. Documented enrollment in the HOPE-2 trial and completion of trial follow-up through Month 12 2. Willing and able to provide informed consent to participate in the trial if ≥ 18 years of age, and assent with parental or guardian informed consent if \< 18 years of age 3. Adequate venous access for intravenous CAP-1002 infusions in the judgement of the Investigator 4. Assessed by the Investigator as willing and able to comply with the requirements of the trial Exclusion Criteria: 1. Planned or likely major surgery in the next 12 months after planned first infusion 2. Risk of near-term respiratory decompensation in the judgment of the investigator, or the need for initiation of non-invasive ventilator support as defined by serum bicarbonate ≥ 29 mmol/L 3. History of non DMD-related chronic respiratory disease including, but not limited to, asthma, bronchitis, and tuberculosis 4. Acute respiratory illness within 60 days prior to first infusion 5. Known hypersensitivity to dimethyl sulfoxide (DMSO) or bovine products 6. Treatment with an investigational product ≤ 6 months prior to first infusion 7. History, or current use, of drugs or alcohol that could impair ability to comply with participation in the trial 8. Inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigatorALL2024-10-18T00:00:002020-06-092020-06-092024-07-222020-06-112024-07-242020-07-202022-02-162025-03trueTrueFalseThis Phase 2, multi-center, open-label extension trial will provide CAP-1002 to subjects that were enrolled in the HOPE-2 trial and completed 12 months of follow-up. The trial will explore the safety and efficacy of sixteen intravenous administrations of CAP-1002, each separated by three months. Subjects will undergo a targeted screening during a 30-day screening period, eligible subjects will then undergo baseline safety and efficacy assessments on Day 1 prior to their first infusion of CAP-1002. Subjects will complete trial assessments at Screening; Day 1; Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42, 45 and 48. Safety and efficacy assessments will be conducted prior to CAP-1002 administration at the Day 1, Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42 and 45 trial visits, unless otherwise indicated. All CAP-1002 infusions will be conducted in an outpatient setting at the investigative site on Day 1 and Months 3, 6, 9, 12, 15, 18, 21, 24, 27, 30, 33, 36, 39, 42 and 45. Subjects will be observed in the outpatient setting for at least two hours post infusion and then discharged the same day, if medically cleared by the site Investigator.Duchenne Muscular DystrophyPHASE213The primary safety endpoint is the incidence and severity of all treatment-emergent adverse eventsChange from baseline in the incidence and severity of all treatment-emergent adverse eventsAt Month 12 timepointThe primary efficacy endpoint is change in upper limb functionMean change from baseline in upper limb function assessed by Performance of the Upper Limb test, version 2 (PUL 2.0) Total Score. Items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensation.At Month 12 timepointIncidence and severity of all treatment-emergent adverse eventsChange from baseline in the incidence and severity of all treatment-emergent adverse eventsAt Month 24, Month 36, and Month 48 timepointChange from baseline in upper limb functionMean change from baseline in upper limb function assessed by Performance of the Upper Limb test, version 2 (PUL 2.0) Total Score. Items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensation.At Month 24, Month 36, and Month 48 timepointChange from from baseline in distal-level (wrist and hand) upper limb functionMean change from baseline in distal-level (wrist and hand) function assessed by Performance of the Upper Limb test, version 2 (PUL 2.0) for a subgroup of subjects with entry level scores of 2 and 3. Items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensation.At Month 12, Month 24, Month 36, and Month 48 timepointChange from from baseline in mid-level (elbow) upper limb functionMean change from baseline in mid-level (elbow) function assessed by Performance of the Upper Limb test, version 2 (PUL 2.0) for a subgroup of subjects with entry level scores of 4 and 5. Items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensation.At Month 12, Month 24, Month 36, and Month 48 timepointChange in cardiac muscle function and structure by assessment of Left Ventricular Ejection Fraction (LVEF)Mean change from baseline in LVEF as assessed by Cardiac Magnetic Resonance (cMRI)At Month 24, Month 36, and Month 48 timepointFalse10FalseFalseFalseFalse NCT0248456056733164/203University of GaziantepOTHEREfficacy of Stem Cell Therapy in Ambulatory and Non-ambulatory Children With Duchenne Muscular Dystrophy - Phase 1-22015-06UNKNOWNDuchenne Muscular Dystrophy (DMD) is a X-linked genetic disorder primarily affecting males, resulting in an absence of dystrophin which ultimately leads to progressive muscle degeneration. Patients with DMD progressively lose functional abilities of movement, breath, and eventually the ability to circulate blood. Currently, there is no cure for DMD, although several strategies are being tested for treatment, none have yet proven to be sufficient. Children with DMD are generally divided into two groups based on severity or progression of the disease, non-ambulatory and ambulatory. Ambulatory patients are capable of walking independently while non-ambulatory patients cannot walk independently.INTERVENTIONALInclusion Criteria: * Ambulatory and Non-ambulatory patients diagnosed with DMD that is proven both clinically and genetically and are between 5-20 years old who need partial respiratory support daily. Patients with less than or equal to stage 1 NIH, cardiac, liver, and renal function. Patients must also not present any indication of cancer, allergic disease, nor bleeding diathesis. Exclusion Criteria: * Patients who require full respiratory support. Patients have stage II NIH or greater, cardiac, liver, and renal function. Patients present with signs of symptoms of cancer, allergic disease, or bleeding diathesis.MALE2024-10-18T00:00:002015-06-162015-06-242015-06-302015-06-292015-07-012015-062015-122015-12trueDuchenne Muscular Dystrophy (DMD) is a X-linked genetic disorder primarily affecting males, resulting in an absence of dystrophin which ultimately leads to progressive muscle degeneration. Patients with DMD progressively lose functional abilities of movement, breath, and eventually the ability to circulate blood. Currently, there is no cure for DMD, although several strategies are being tested for treatment, none have yet proven to be sufficient. Children with DMD are generally divided into two groups based on severity or progression of the disease, non-ambulatory and ambulatory. Ambulatory patients are capable of walking independently while non-ambulatory patients cannot walk independently.Duchenne Muscular DystrophyPHASE110Degree of improvement in patients with Duchenne Muscular Dystrophy after stem cell therapy treatment administered using Northstar Ambulatory Assessment, Magnetic Resonance Imaging & Spectroscopy, muscle strength assessment equipment, and a questionnaire.Tests Used in Assement: Northstar ambulatory assessment CHAQ (Child Health Assessment Questionnaire) MRI/MRS Muscle Strength Assessment - Myogrip, Myopinch, and Moviplate12 MonthsFalse814FalseFalseTrueTrue NCT05305976KTU_FTR_AE_01Karadeniz Technical UniversityOTHERTelerehabilitation in Duchenne Muscular Dystrophy2022-03COMPLETEDDuchenne Muscular Dystrophy (DMD) is a progressive inherited disease that affects the muscles and causes functional limitations to varying degrees. It is vital to start physiotherapy follow-ups immediately after diagnosis. Patients with DMD are among the most vulnerable groups who have problems in accessing physiotherapy services during the COVID-19 pandemic. The aim of the study was to investigate the effects of the telerehabilitation program developed to protect the physical health of patients with DMD and not to interrupt their follow-up.INTERVENTIONALInclusion Criteria: * Able to communicate verbally and visually * Older than 5 years old Exclusion Criteria: * The children who had undergone any surgical operations in the past 6 months, * Having a severe cognitive and breathing impairment * Using mechanical ventilator continually or intermittent * Having a febrile infectionMALE2024-10-18T00:00:002022-03-142022-03-232022-03-232022-03-312022-03-312021-01-112021-11-152022-01-01falseFalseFalseDuchenne Muscular Dystrophy (DMD) is a progressive inherited disease that affects the muscles and causes functional limitations to varying degrees. It is vital to start physiotherapy follow-ups immediately after diagnosis. Patients with DMD are among the most vulnerable groups who have problems in accessing physiotherapy services during the COVID-19 pandemic. The aim of the study was to investigate the effects of the telerehabilitation program developed to protect the physical health of patients with DMD and not to interrupt their follow-up.Duchenne Muscular DystrophyNA43Functional levelBrooke Function Classification SystemBefore the intervention, up to one monthSocio-demographicsgender, body weight, heightBefore the intervention, up to one monthWalking test (Before intervention)The distance of 10 m was determined in a suitable indoor environment.Before the intervention, up to one month.Walking test (After intervention)The distance of 10 m was determined in a suitable indoor environment.After the intervention, average two weeks.Time to stand up from the supine position (Before intervention)The time to stand up from the supine position was recorded.Before the intervention, up to one month.Time to stand up from the supine position (After intervention)The time to stand up from the supine position was recorded.After the intervention, average two weeks.Modified upper extremity performance test (Before intervention)Flexion the shoulder to 90 degrees, flexion the shoulder above 90 degrees (above eye level), abduction of the shoulder 90 degrees, abduction of the shoulder above 90 degrees, doing the same movements with weight, bringing the empty glass to the mouth in a sitting position, bringing the full glass to the mouthBefore the intervention, up to one month.Modified upper extremity performance test (After intervention)Flexion the shoulder to 90 degrees, flexion the shoulder above 90 degrees (above eye level), abduction of the shoulder 90 degrees, abduction of the shoulder above 90 degrees, doing the same movements with weight, bringing the empty glass to the mouth in a sitting position, bringing the full glass to the mouthAfter the intervention, average two weeks.Endurance (Before intervention)The number of knee extensions and elbow flexions they can do in sitting position in 30 secondsBefore the intervention, up to one month.Endurance (After intervention)The number of knee extensions and elbow flexions they can do in sitting position in 30 secondsAfter the intervention, average two weeks.Pulmonary Dysfunction Test (Before intervention)Value when the patient counts audibly in a single expiration after maximum inspiratory effortBefore the intervention, up to one month.Pulmonary Dysfunction Test (After intervention)Value when the patient counts audibly in a single expiration after maximum inspiratory effortAfter the intervention, average two weeks.Patient Satisfaction SurveyGeneral satisfaction, internet/connection, physiotherapist's guidance, timing, level of knowledge, reassurance, comfort, knowledge/advice, level of satisfaction with information clarityAfter the intervention average two weeksTrue5FalseFalseFalseFalse NCT04906460WVE-N531-001Wave Life Sciences Ltd.INDUSTRYOpen-label Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy (FORWARD-53)2024-02ACTIVE_NOT_RECRUITINGThis is a Phase 1b/2a open-label study to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and clinical effects of intravenous (IV) WVE-N531 in patients with Duchenne muscular dystrophy (DMD). To participate in the study, patients must have a documented mutation of the DMD gene that is amenable to exon 53 skipping intervention. This study has 2 parts, Part A and Part B. Part A is complete.INTERVENTIONALInclusion Criteria: 1. Part A patients may be screened for Part B upon completion of a washout period of ≥18 weeks from last dose in Part A. New patients may also be screened for Part B 2. Diagnosis of DMD based on clinical phenotype . 3. Documented mutation in the DMD gene associated with DMD that is amenable to exon 53 intervention 4. Score of ≥1 on item 1 or 2 of the shoulder component of the Performance of the Upper Limb (PUL). 5. Ambulatory or non-ambulatory male 6. Stable pulmonary and cardiac function, as measured by the following: 1. Reproducible percent predicted forced vital capacity (FVC) ≥50%; 2. Left ventricular ejection fraction (LVEF) \>55% in patients \<10 years of age and \>45% in patients ≥10 years of age, as measured (and documented) by echocardiogram (ECHO) or cardiac magnetic resonance imaging (MRI), within 6 months prior to enrollment into the study. 7. Adequate muscle at Screening to perform open muscle biopsies. 8. Currently on a stable corticosteroid therapy regimen, defined as initiation of systemic corticosteroid therapy that occurred ≥6 months prior to Screening and no changes in dose ≤3 months prior to Screening visit. Exclusion Criteria: 1. Clinically significant medical finding on the physical examination other than DMD that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and/or completion of the study procedures. 2. Major surgery within 3 months prior to Day 1 or planned major surgery for any time during the study. 3. Diagnosis of active alcohol, cannabinoid, or other substance use disorder (except nicotine) within 6 months prior to the Screening visit.MALE2024-10-18T00:00:002021-05-242021-05-242024-02-262021-05-282024-02-282021-09-282025-012025-05trueTrueFalseThis is a Phase 1b/2a open-label study to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and clinical effects of intravenous (IV) WVE-N531 in patients with Duchenne muscular dystrophy (DMD). To participate in the study, patients must have a documented mutation of the DMD gene that is amenable to exon 53 skipping intervention. This study has 2 parts, Part A and Part B. Part A is complete.Duchenne Muscular DystrophyPHASE1PHASE211Pharmacodynamics: Dystrophin level (% normal dystrophin) as assessed by Western blot of muscle tissue following multiple doses of WVE-N531Week 26 and at Week 50North Star Ambulatory Assessment (NSAA) (Version 2.0), including time to stand and a timed 10-meter walk/run, with a range of 0 to 34 where higher scores indicate better outcome.Weeks 24 and 48Performance of the Upper Limb (PUL) (Version 2.0) with a range of 0 to 64 where higher scores indicate a better outcome.Weeks 24 and 48Stride Velocity 95th Centile (SV95C)/upper limb outcome (non-ambulatory patients)Weeks 24 and 48False518FalseFalseFalseTrue NCT05257473HM20023412Virginia Commonwealth UniversityOTHERDefining Endpoints in Becker Muscular Dystrophy2024-10RECRUITINGThis is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)OBSERVATIONALInclusion Criteria: For ages 6-12 1. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD) 2. Genetic confirmation of an in-frame dystrophin mutation 3. Ambulatory 4. Willing and able to give informed consent and follow all procedures and requirements For ages 13 and older 1. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD) 2. Genetic confirmation of a dystrophin mutation 3. Willing and able to give informed consent and follow all procedures and requirements For participants in the MRI substudy: 1. Ambulatory, defined as able to walk 10 meters without assistive devices (orthotics allowed) Exclusion Criteria: For ages 6-12 1. Out of frame dystrophin mutation 2. Use of chronic corticosteroids at baseline, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population 3. Non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics) 4. \>16 hours of ventilatory support 5. Any other illness that would interfere with the ability to undergo safe testing or would interfere with interpretation of the results in the opinion of the site investigator. 6. Under the age of 6 at time of enrollment 7. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia) For ages 13 and older 1. Loss of ambulation prior to age 16 2. Use of chronic corticosteroids, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population 3. Less than 30% of the overall population will be non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics) 4. \>16 hours of ventilatory support 5. Subjects aged 13-16 only: time to rise \>10 seconds 6. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)MALE2024-10-18T00:00:002022-01-252022-02-152024-10-022022-02-252024-10-042022-04-132025-052026-05trueFalseFalseThis is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)Becker Muscular Dystrophy;Muscular Dystrophies;Muscular Dystrophy in Children;Muscular Dystrophy, Becker80To assess the natural history of measures of muscle function in BMDNorth Star Assessment for LGMD (NSAD: The NSAD is a functional scale specifically designed to measure motor performance in individuals with LGMD and is being evaluated in BMD due to the similar limb-girdle pattern of weakness. It consists of 29 items that are considered clinically relevant items from the adapted North Star Ambulatory Assessment and the Motor Function Measure 20 with a maximum score of 54 and higher scores indicate higher functional abilities.Through study completion, an average of 2 years4-Stair ClimbParticipants will perform the 4-stair climb with instructions to ascend 4 steps as quickly and as safely possible, using handrails if needed.Through study completion, an average of 2 years100-Meter Timed TestThe participant will be asked to complete 4 laps around 2 cones set 25 meters apart as quickly as safely possible, running if able and the time in seconds is recorded.Through study completion, an average of 2 yearsPERFORMANCE OF UPPER LIMB 2.0 (PUL)The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders.Through study completion, an average of 2 yearsHAND HELD DYNAMOMETRY (HHD) AND GRIPHand held dynamometry using the MicroFET2 myometer will be utilized to capture isometric strength in target muscle groups. Maximum strength in kilograms will be reported for each muscle group provided a continuous scale variable for analysis. CITEC myometer will be used to measure the and Grip of the subject. These pinch and grip techniques will also capture the maximum strength in newtons for the muscle groups involved.Through study completion, an average of 2 yearsTIMED UP-AND-GO (TUG)The TUG will be administered using the appropriate stable seating surface (i.e., cube chair or straight back chair) to achieve 90 degree of both hip and knee flexion when participant is seated with both feet flat on the floor to start. The test should be performed barefoot. The fastest time to stand from the chair, walk 3 meters, and return to seated, will be recorded.Through study completion, an average of 2 yearsMeasures of Pulmonary Function (Seated and supine FVC)Spirometry will be performed in a sitting and supine position using standardized equipment. Forced vital capacity (FVC) sitting and supine.Through study completion, an average of 2 yearsMeasures of Pulmonary Function (MEP and MIP)Sitting maximal expiratory and inspiratory pressures (MEP and MIP) will be assessed.Through study completion, an average of 2 yearsMeasures of Pulmonary Function (other)Use of nocturnal or daytime positive pressure ventilation (PPV) (e.g., BiPAP or CPAP) will be recorded.Through study completion, an average of 2 yearsMeasure of ejection fraction (ECHO)A transthoracic echocardiogram (ECHO) will be performed. Measures of ejection fraction will be recorded.Through study completion, an average of 2 yearsMeasure of systolic and diastolic function (ECHO)A transthoracic echocardiogram (ECHO) will be performed. Measures of presence of systolic and diastolic function will be recorded.Through study completion, an average of 2 yearsFalse6FalseFalseFalseFalse NCT03067831SCA-DMD1Stem Cells ArabiaOTHERBone Marrow-Derived Autologous Stem Cells for the Treatment of Duchenne Muscular Dystrophy2020-03UNKNOWNThis study is single arm, single center trial to study the safety and efficacy of bone marrow-derived autologous specific populations of stem cells and mesenchymal stem cells for the treatment of Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Age group of 3-25 years * Duchenne muscular dystrophy diagnosed on the basis of clinical presentation Exclusion Criteria: * Respiratory Distress * Acute infections such as Human Immunodeficient Virus/Hepatitis B Virus/Hepatitis C Virus malignancies * Acute medical conditions such as respiratory infections, fever, hemoglobin less than 8 bleeding tendency, bone marrow disorder, left ventricular ejection fraction \< 30% * Pregnancy or breastfeedingALL2024-10-18T00:00:002017-02-252017-02-282020-03-152017-03-012020-03-172015-092021-112021-12trueThis study is single arm, single center trial to study the safety and efficacy of bone marrow-derived autologous specific populations of stem cells and mesenchymal stem cells for the treatment of Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE1PHASE220Improvement in muscle strength using Kinetics Muscle testing or MMT12 monthsBrooke and Vignos Scale12 monthsFalse425FalseFalseFalseFalse NCT03236662767161University of California, DavisOTHER(-)- Epicatechin Becker Muscular Dystrophy2021-11COMPLETEDThis is a 48-week open-label extension of our initial proof-of-concept study (UCD0113) in patients with Becker muscular dystrophy who participated in the earlier trial. This single center study will enroll up to 10 adults who will receive the purified nutritional extract (-)-epicatechin 100mg/day orally for 8 weeks. After screening visits, participants will be enrolled in the study if they meet all inclusion criteria. They will be evaluated at screening, baseline, and weeks 4, 8, 12, 24, 16 and 48. The main criterion for success of the study will be presence of one or more biologic or strength and performance outcome measures that yield a response magnitude that allows for sufficient power in a Phase II B study with a sample size of 30 individuals.INTERVENTIONALInclusion Criteria: * Prior participation in UCD0113 BMD epicatechin pilot study * Male * Age 18 years to 70 years * Average to low daily physical activity * Ability to ambulate for 75 meters without assistive devices * Diagnosis of BMD confirmed by at least one the following: * Dystrophin immunofluorescence and/or immunoblot showing partial dystrophin deficiency, and clinical picture consistent with typical BMD, or * Gene deletions test positive (missing one or more exons) of the dystrophin gene, where reading frame can be predicted as 'in-frame', and clinical picture consistent with typical BMD, or * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, or other mutation resulting in a stop codon mutation) that can be definitely associated with BMD, with a typical clinical picture of BMD, or * Positive family history of BMD confirmed by one of the criteria listed above in a sibling or maternal uncle, and clinical picture typical of BMD. * Hematology profile within normal range * Baseline laboratory safety chemistry profile within normal range * No plan to change exercise regimen during study participation * Nutritional, herbal and antioxidant supplements taken with the intent of maintaining or improving skeletal muscle strength or functional mobility have been discontinued at least 2 weeks prior to screening (daily multivitamin use is acceptable). Exclusion Criteria: * Currently enrolled in another treatment clinical trial. * History of significant concomitant illness or significant impairment of renal or hepatic function. * Use of regular daily aspirin or other medication with antiplatelet effects within 3 weeks of first dose of study medication. * Regular participation in vigorous exercise. * Symptomatic heart failure with cardiac ejection fraction \<25%MALE2024-10-18T00:00:002016-11-072017-07-282021-11-222017-08-022021-11-242016-112017-112017-12falseThis is a 48-week open-label extension of our initial proof-of-concept study (UCD0113) in patients with Becker muscular dystrophy who participated in the earlier trial. This single center study will enroll up to 10 adults who will receive the purified nutritional extract (-)-epicatechin 100mg/day orally for 8 weeks. After screening visits, participants will be enrolled in the study if they meet all inclusion criteria. They will be evaluated at screening, baseline, and weeks 4, 8, 12, 24, 16 and 48. The main criterion for success of the study will be presence of one or more biologic or strength and performance outcome measures that yield a response magnitude that allows for sufficient power in a Phase II B study with a sample size of 30 individuals.Becker Muscular DystrophyPHASE22Plasma Follistatinblood biomarker concentration48 weeksPlasma Myostatinblood biomarker concentration48 weeksPlasma Nitrates/ SNOblood biomarker concentration48 weeksPlasma BNPblood biomarker concentration48 weeksPlasma Creatine Kinaseblood biomarker concentration48 weeksPlasma MMP-9blood biomarker concentration48 weeksPlasma TNF-Alphablood biomarker concentration48 weeksPlasma TGF-Betablood biomarker concentration48 weeksPlasma Follistatin:Myostain RatioRatio of plasma follistatin to plasma myostatin48 weeksGraded Exercise Test Using a Recumbent Cycle Ergometerblood lactate measuredbaseline and at 2-minute intervals6-minute Walk TestMeasurements recorded will include 25-meter split times and total distance traveled.48 weeksFalse1870FalseFalseFalseFalse NCT05564962QIGSDMDHacettepe UniversityOTHERQuality and Independence of Gait Classification Scale for DMD (QIGS-DMD)2022-09COMPLETEDThe aim of this study was to develop a reliable and valid gait classification scale for Duchenne Muscular Dystrophy (QIGS-DMD). The items of the QIGS-DMD were designed based on the literature review considering existing functional classification scales, gait scales, and the opinions of the physiotherapists who were expertized in rehabilitation of patients with DMD. Content validity was determined based on the opinions of a total of ten expert physiotherapists. Videos were recorded during gait of 69 children with DMD and inter- and intra-rater reliability were examined. Criterion validity was determined according to the relationship between QIGS-DMD and Motor Function Measure (MFM) and Vignos Lower Extremity Rating Scale (VLERS).OBSERVATIONALInclusion Criteria: * being 5 years old or above, and * having a confirmed diagnosis of Duchenne Muscular Dystrophy. Exclusion Criteria: * having other coexisting medical or psychiatric diseases or injury and/or surgery related to the lower extremities within the last 6 monthsMALE2024-10-18T00:00:002022-09-292022-09-292022-09-292022-10-042022-10-042021-01-192021-06-202021-09-20falseFalseFalseThe aim of this study was to develop a reliable and valid gait classification scale for Duchenne Muscular Dystrophy (QIGS-DMD). The items of the QIGS-DMD were designed based on the literature review considering existing functional classification scales, gait scales, and the opinions of the physiotherapists who were expertized in rehabilitation of patients with DMD. Content validity was determined based on the opinions of a total of ten expert physiotherapists. Videos were recorded during gait of 69 children with DMD and inter- and intra-rater reliability were examined. Criterion validity was determined according to the relationship between QIGS-DMD and Motor Function Measure (MFM) and Vignos Lower Extremity Rating Scale (VLERS).Duchenne Muscular Dystrophy;Gait Disorders in Children69Quality and Independence of Gait Classification Scale for Duchenne Muscular Dystrophy (QIGS-DMD)It is the scale developed within the scope of the study.10 minutesMotor Fucntion Measure (MFM)MFM is a valid and reliable measure to evaluate the severity of the motor deficit of both ambulatory and non-ambulatory children with neuromuscular diseases. MFM consists of 32 items in 3 dimensions and is scored as a percentage of the maximum possible score which higher scores indicate better functional status.20-30 minutesVignos Lower Extremity Rating Scale (VLERS)VLERS is a 10-item ordinal scale that identifies the functional status of the lower limbs. According to VLERS, level 1 indicates that the patient can walk independently and climb stairs without assistance while level 10 indicates is the patient is bedridden10 minutes518FalseFalseFalseFalse NCT02858362SMT C11005Summit TherapeuticsINDUSTRYProof of Concept Study to Assess Activity and Safety of SMT C1100 (Ezutromid) in Boys With Duchenne Muscular Dystrophy (DMD)2019-12TERMINATEDTo Assess the Activity and Safety of SMT C1100 (Ezutromid) in Paediatric Male Participants with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Be able to provide written informed consent/assent as per local requirements. * Be male. * Have phenotypic evidence of dystrophinopathy based on the onset of characteristic clinical symptoms or signs (e.g., proximal muscle weakness, waddling gait, and Gowers' manoeuvre), an elevated serum creatinine kinase level, and ongoing difficulty with walking. * Have prior confirmation of the duchenne muscular dystrophy (DMD) diagnosis through: Documentation of the presence of a mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists, the Clinical Laboratory Improvement Act/Amendment or an equivalent organisation or documentation of the absence of dystrophin in the muscle (via biopsy). * Be able to undergo MRI examination. * Participants must have used stable systemic corticosteroids (prednisone, prednisolone or deflazacort) for a minimum of 6 months immediately prior to the start of the Treatment Phase, with no significant change in dosage or dosing regimen (not related to body weight change) and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study. * Confirmed screening laboratory values within the central laboratory ranges (haematology, renal and serum electrolyte parameters and serum chemistry parameters) or considered not clinically significant in the opinion of the Investigator. Variations in specific parameters expected in a DMD population classed by the Investigator as not clinically significant will not exclude the participant. * Be willing and able to comply with scheduled visits, drug administration plan, study procedures, laboratory tests and study restrictions. Cohort 1 and 2 Specific Inclusion Criteria: * Be aged ≥5 years to \<10 years of age (from 5th birthday to 10th birthday). * Be willing and able to comply with 2 muscle biopsy procedures. * Have the ability to walk at least 300 meters unassisted during the screening 6 minute walk distance (6MWD) and be below the protocol-specified threshold for 80%-predicted 6MWD. * Have results of 2 6MWD by Baseline determined as valid. The results of the second 6MWD (baseline) must be within 20% of the first 6MWD (screening). * Have cardiac echocardiogram (ECHO) measurements showing an ejection fraction of ≥55% and fractional shortening of ≥28%. Cohort 3 Specific Inclusion Criteria: * Have taken part in a prior SMT C1100 study. Exclusion Criteria: * Have physical exam findings that in the Investigator's opinion should be exclusionary e.g., lower limb injury that may affect 6MWD performance. * Have any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation or reinitiation) in prophylaxis/treatment for congestive heart failure (CHF) within 3 months prior to the start of study treatment. * Have uncontrolled clinical symptoms and signs of CHF (American College of Cardiology/American Heart Association Stage C or Stage D). * Have abnormal glutamate dehydrogenase (GLDH) at baseline (\>1.5 x upper limit of normal \[ULN\]). * Have abnormal coagulation times at baseline (\>1.5 x ULN). * Have an abnormal electrocardiograms (ECG). * Use herbal supplements and be unwilling to stop these for the duration of the study. * Have been exposed to another investigational drug or DMD interventional agent within 3 months prior to start of the Treatment Phase. Prior exposure to SMT C1100 or participation in an approved deflazacort access program within this period would not exclude the participant (provided they have been on stable treatment for 6 months). * Have a history of major surgical procedure within 12 weeks prior to the start of the Treatment Phase (Week 1). * Be undertaking ongoing immunosuppressive therapy (other than corticosteroids). * Require daytime ventilator assistance. * Have a prior or ongoing medical condition, medical history, ECG findings, or laboratory abnormality that, in the Investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results. * Be dairy or lactose intolerant or have any other dietary restrictions that might interfere with the conduct of the study. * Be a smoker, use other tobacco or nicotine products or be exposed to daily passive smoking (including parent/legal guardian, siblings) so as to minimise environmental factors causing CYP1A induction. * Be using an approved DMD medication or anticipates using one during the duration of the study. Participants who are taking part in the FOR-DMD and ACCESS DMD studies will be allowed to take part. * Be using an inducer of CYP1A1 or CYP1A2. * Be using a substrate of CYP2B6. * All prescription, over the counter, and herbal products that are known CYP2B6 sensitive substrates will be excluded 14 days prior to study conduct (beginning at screening) through 14 days after study conduct completion. Please note, this is not an exhaustive list of CYP2B6 substrates and a discussion with the Medical Monitor may be warranted. * Be using drugs that have serotonergic, norepinephrinergic or dopaminergic activity, or treatments used in attention deficit hyperactivity disorder. * Use of substrates of BRCP. Cohort 1 and 2 Specific Exclusion Criteria: * Use beta blockers (however, if during the course of the study they are clinically indicated they can be initiated). Cohort 1 and 3 Specific Exclusion Criteria: * Have a known hypersensitivity to any of the ingredients or excipients of the investigational medicinal product: Poloxamer 188, Methylparaben, Propylparaben, Hydroxypropylmethyl cellulose, Glycerol, Non-crystallising sorbitol \[70%\], Xanthan gum, Strawberry cream flavour \[PHS-132963\]. Cohort 2 Specific Exclusion Criteria: * Have a known hypersensitivity to any of the ingredients or excipients of the investigational medicinal product: hypromellose acetate succinate.MALE2024-10-18T00:00:002016-07-272016-08-032019-12-132016-08-082020-01-022016-062018-04-112018-09-11trueTo Assess the Activity and Safety of SMT C1100 (Ezutromid) in Paediatric Male Participants with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE243Change From Baseline in Magnetic Resonance Spectroscopy (MRS) Fat Fraction (FF) for Leg MusclesMRS FF was analysed for vastus lateralis and soleus leg muscles. The endpoints were measured for Cohorts 1 and 2 only. Results for Cohorts 1 and 2 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline for Magnetic Resonance Spectroscopy (MRS) Water Transverse Relaxation Time (WTRT) for Leg MusclesMRS WTRT was analysed for the vastus lateralis and soleus leg muscles. The endpoints were measured for Cohorts 1 and 2 only. Results for Cohorts 1 and 2 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Observed Trough Plasma Concentration (Ctrough) for SMT C1100, Dihydrodiol 1 (DHD1) and Dihydrodiol III (DHD 3)Pharmacokinetic analysis is presented by cohort due to the use of different formulations. The median pre-dose concentration was derived for each participant and then summarized across participants.Pre-dose at Weeks 1, 4, 8, 12, 24, 36 and 48Simulated Maximum Plasma Concentration (Cmax) for SMT C1100, Dihydrodiol 1 (DHD1) and Dihydrodiol III (DHD 3)Pharmacokinetic analysis is presented by cohort due to the use of different formulations.Pre-dose and 3 to 10 hours post-dose at Weeks 1, 4, 8, 12, 24, 36 and 48Simulated Average Plasma Concentration (Cav) for SMT C1100, Dihydrodiol 1 (DHD1) and Dihydrodiol III (DHD 3)Pharmacokinetic analysis is presented by cohort due to the use of different formulations.Pre-dose and 3 to 10 hours post-dose at Weeks 1, 4, 8, 12, 24, 36 and 48Number of Participants Reporting One or More Treatment-Emergent Adverse Events (TEAEs)An adverse event is defined as any untoward medical occurrence in a patient or clinical investigation participant administered a pharmaceutical product and which does not necessarily have a causal relationship with this treatment. A TEAE is defined as any event not present before exposure to study drug or any event already present that worsens in either intensity or frequency after exposure to study drug.Day 1 to a maximum of Week 96Change From Baseline in Utrophin IntensityA maximum of two muscle biopsies were taken, one at baseline and the other at Week 24 or Week 48. Utrophin intensity was analyzed using a semiautomated quantitative assay on the biopsy samples. A positive change from baseline represents an increase in utrophin expression, no change from baseline represents maintenance of utrophin expression and a negative change from baseline represents a reduction in utrophin expression. The endpoint was measured for Cohorts 1 and 2 only. Results for Cohorts 1 and 2 are pooled as specified in the protocol.Baseline, Week 24 and Week 48Change From Baseline in Developmental Heavy Chain Myosin (MHCd) ExpressionA maximum of two muscle biopsies were taken, one at baseline and the other at Week 24 or Week 48. MHCd expression was analyzed using a semiautomated quantitative assay on the biopsy samples. A positive change from baseline represents an increase in MHCd expression, no change from baseline represents maintenance of MHCd expression and a negative change from baseline represents a reduction in MHCd expression. The endpoint was measured for Cohorts 1 and 2 only. Results for Cohorts 1 and 2 are pooled as specified in the protocol.Baseline, Week 24 and Week 48Change From Baseline in Muscle Fibre DiameterA maximum of two muscle biopsies were taken, one at baseline and the other at Week 24 or Week 48. Muscle fibre diameter was analyzed using a semiautomated quantitative assay on the biopsy samples. The endpoint was measured for Cohorts 1 and 2 only. Results for Cohorts 1 and 2 are pooled as specified in the protocol.Baseline, Week 24 and Week 48Change From Baseline in Forced Expiratory Volume in 1 Second (FEV1)Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Forced Vital Capacity (FVC)Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Maximum Inspiratory Pressure (MIP)Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Maximum Expiratory Pressure (MEP)Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Peak Expiratory Flow (PEF)Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Peak Cough Flow (PCF)Analysis of PCF was planned for Cohort 3 only.Baseline, Week 12, Week 24, Week 36 and Week 48Change From Baseline in Sniff Nasal Inspiratory Pressure (SNIP)Analysis of SNIP was planned for Cohort 3 only.Baseline, Week 12, Week 24, Week 36 and Week 48Number of Participants That Experienced a Clinically Significant Change in Vital Signs MeasurementsSystolic blood pressure (SBP), diastolic blood pressure (DBP) and pulse will be disclosed with the following categories: * All values within 20% of change from baseline (\< 20% change). * At least one value ≥ 20% reduction from baseline, but no increases ≥ 20% from baseline (≥ 20% reduction and no \< 20% increase). * At least one value ≥ 20% increase from baseline, but no reductions ≥ 20% from baseline (≥ 20% Increase and no \< 20% reduction). * At least one value ≥ 20% reduction from baseline and at least one value ≥ 20% increase from baseline (≥ 20% reduction and ≥ 20% increase). Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline to Week 48Number of Participants That Experienced a Clinically Significant in Physical Examination ResultExaminations included: ear, nose and throat, cardiovascular system, pulmonary system, skin, abdomen, neurological system, height and weight. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Day 1 to Week 48Number of Participants That Experienced a Potentially Clinically Significant Electrocardiogram MeasurementsPR interval (PRI), heart rate (HR), QTcF and increase from baseline in QTcF (IQTcF) were summarized categorically. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline to Week 48Number of Participants That Experienced a Potentially Clinically Significant Echocardiogram MeasurementParticipants were at rest in a supine position for 10 minutes before the measurements were performed. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline, Week 24 and Week 48Number of Participants That Experienced a Clinically Significant Haematology Result (Investigator's Assessment)Parameters included: haemoglobin, haematocrit, mean corpuscular volume, white blood cells, red blood cells, neutrophils (percentage and absolute), lymphocytes (percentage and absolute), monocytes (percentage and absolute), eosinophils (percentage and absolute), basophils (percentage and absolute) and platelets. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Day 1 to Week 48Number of Participants Who Experienced a Clinically Significant Biochemistry Result (Investigator's Assessment)Parameters included: calcium, potassium, sodium, albumin, urea nitrogen, uric acid, creatinine, creatine kinase, fasting glucose, cystatin C, lactate dehydrogenase, amylase, lipase, low density lipoprotein cholesterol, high density lipoprotein (HDL) cholesterol, cholesterol, non-HDL cholesterol, total HDL cholesterol ratio, total bilirubin, direct bilirubin, indirect bilirubin, alkaline phosphatase, alanine aminotransferase, aspartate aminotransferase, gamma glutamyl transferase and glutamate dehydrogenase. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Day 1 to Week 48Number of Participants That Experienced a Potentially Clinically Significant Liver Function ResultLaboratory measurements for alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bilirubin (TB), alkaline phosphatase (ALP), and glutamate dehydrogenase (GLDH). Hy's Law is defined as an increase in ALT, AST and TB, indicating hepatocyte necrosis and functional deficit. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Baseline to Week 48Number of Participants That Experienced a Clinically Significant Urinalysis Result (Investigator's Assessment)Parameters included: glucose, bilirubin, ketones, specific gravity, blood, pH, protein, urobilinogen, nitrites and leucocytes. Results for Cohorts 1, 2 and 3 are pooled as specified in the protocol.Day 1 to Week 48Number of Participants That Experienced a Clinically Significant Coagulation Result (Investigator's Assessment)Parameters included: activated partial thromboplastin time, prothrombin time and international normalised ratio. Coagulation was only assessed for Cohorts 2 and 3. Results for Cohorts 2 and 3 are pooled as specified in the protocol.Day 1 to Week 48False5TrueFalseTrueFalse NCT02434627Pro35228Cedars-Sinai Medical CenterOTHERSodium Nitrate for Muscular Dystrophy2016-10COMPLETEDThe investigators' previous work in males with Becker Muscular Dystrophy shows that functional sympatholysis is restored by acute inorganic nitrate supplementation. This was translated from work using the mdx mouse model of dystrophinopathy. Recent work has shown that there is a frank improvement in grip strength when mdx mice are treated with an inorganic Nitric Oxide (NO) donor. The purpose of this study is to determine if chronic treatment with an inorganic NO donor can benefit patients with muscular dystrophy beyond blood flow regulation.INTERVENTIONALInclusion Criteria: * Clinical diagnosis of muscular dystrophy * Age 15-45 years of age * Ambulatory * No clinical evidence of heart failure * Maximum voluntary contraction, measured by hand grip dynamometer, of 20-40 kg Exclusion Criteria: * Hypertension, diabetes, or heart failure by standard clinical criteria * Elevated B-type Natruiretic Peptide level (\>100 pg/ml) * Left Ventricular Ejection Fraction \< 50% * Wheelchair bound * Cardiac rhythm disorder, specifically: rhythm other than sinus, Supraventricular Tachycardia, atrial fibrillation, ventricular tachycardia * Continuous ventilatory support * Liver disease * Renal impairment * Contraindications to NO donors (use of nitrates, alpha-blockers, CYP3A inhibitors, amlodipine, or Phosphodiesterase type 5 (PDE5) inhibitors) Glucocorticoid therapy and prophylactic use of Angiotensin Converting Enzyme (ACE) inhibitors and beta-blockers for cardiac protection will not be exclusion criteria. * Maximum voluntary contraction of less than 20 kg or greater than 40 kg * Ventilation Devices (Continuous Positive Airway Pressure (CPAP), Bilevel Positive Airway Pressure (BiPAP))MALE2024-10-18T00:00:002015-04-282015-05-042020-01-092015-05-052020-01-132015-062018-042018-04falseThe investigators' previous work in males with Becker Muscular Dystrophy shows that functional sympatholysis is restored by acute inorganic nitrate supplementation. This was translated from work using the mdx mouse model of dystrophinopathy. Recent work has shown that there is a frank improvement in grip strength when mdx mice are treated with an inorganic Nitric Oxide (NO) donor. The purpose of this study is to determine if chronic treatment with an inorganic NO donor can benefit patients with muscular dystrophy beyond blood flow regulation.Becker Muscular DystrophyPHASE15Change in maximal handgrip strengthChange from baseline in handgrip strength at 3 monthsChange in muscle function - Performance of Upper Limb ScaleChange in functional muscle assessment as measured by the Performance of Upper Limb ScaleChange from baseline in muscle function - the Performance of Upper Limb Scale at 3 monthsChange in muscle tissue markers - histology and proteomicsChange in tissue markers such as neuronal Nitric Oxide Synthase (nNOS) content and location and nitrosative stress by histology and proteomicsChange from baseline in muscle tissue markers at 3 monthssChange in systolic wall strain - imagingChange in the cardiac wall strain as measured by Cardiac Magnetic Resonance ImagingChange from baseline in cardiac systolic wall strain at 3 monthsChange in muscle function - North Star Ambulatory AssessmentChange in functional muscle assessment as measured by the North Star Ambulatory AssessmentChange from baseline in muscle function - North Star Ambulatory Assessment at 3 monthsChange in muscle function - 6 minute walk testChange in functional muscle assessment as measured by the 6 minute walk testChange from baseline in muscle function - 6 minute walk test at 3 monthsFalse1545FalseFalseFalseFalse NCT02285673DMD-UC-MSC-1Acibadem UniversityOTHEREfficacy of Umbilical Cord Mesenchymal Stem Cells in Duchenne Muscular Dystrophy2014-11UNKNOWNDuchenne muscular dystrophy (DMD) is a genetic disorder caused by an absence of dystrophin and characterized by progressive muscle degeneration. There is no cure for DMD at present but, there are several strategies under-researched for treatment of DMD such as steroid treatment, gene theraphy, exon skipping, stop codon read through and gene repair, cell theraphy and theraphy with drug that help to produce utrophin protein. The aim of this study is investigate the eficacy of human umblical cord mesenchymal stem cells on DMD and understanding if wild type gene can be transfered to the patient.INTERVENTIONALInclusion Criteria: - Patients with diagnosis of DMD that is proven clinically and genetically Age between 7-20 Patients need partial respiratory support, during the day Patients have less than or equal to stage I NIH, Liver, renal and cardiac function Patients without cancer Patients without allergic disease Patients without bleeding diathesis, Exclusion Criteria: Patients need complete respiratory support Patients have more than to stage II NIH, Liver, renal and cardiac function Patients have bleeding diathesis and allergic diseaseMALE2024-10-18T00:00:002014-11-052014-11-062014-11-062014-11-072014-11-072013-112015-022015-11falseDuchenne muscular dystrophy (DMD) is a genetic disorder caused by an absence of dystrophin and characterized by progressive muscle degeneration. There is no cure for DMD at present but, there are several strategies under-researched for treatment of DMD such as steroid treatment, gene theraphy, exon skipping, stop codon read through and gene repair, cell theraphy and theraphy with drug that help to produce utrophin protein. The aim of this study is investigate the eficacy of human umblical cord mesenchymal stem cells on DMD and understanding if wild type gene can be transfered to the patient.Duchenne Muscular DystrophyPHASE1PHASE210Duchenne muscular dystrophy gene expressionup to 9 monthsFalse720FalseFalseFalseFalse NCT03882827GNT-014-MDYFGenethonOTHERNatural History of Duchenne Muscular Dystrophy2022-09UNKNOWNBaseline Study on Duchenne Muscular Dystrophy (DMD) in view to collect data on the natural disease course in a cohort in young male subjects aged from 5 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.OBSERVATIONALInclusion Criteria: 1. Male 2. 5 to 9 years old inclusive 3. Body-Weight \< or = 75th percentile of BMI body-mass index scale (according to validated scale in force in the country site) 4. Diagnosis of DMD based upon Gene testing positive with detailed genotyping 5. Able to achieve: * NSAA (North Star Ambulatory Assessment) scale \> or =18 (with a maximum of 2 points difference between inclusion and screening visits) and/or: * Gowers test \< or =7 sec * 6 Minute Walk Test (6MWT) \> or = 350 meters at screening visit (M1) and at inclusion visit (M0) with the distance being 20% of each other 6. Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care in the previous 3 months 7. Signed informed consent by at least one parent(s) or both parents or legal guardian representative(s), when applicable and according to the country regulation 8. Affiliated Beneficiary of the National Health Care scheme Exclusion Criteria: 9. Cardiomyopathy based on physical cardiological examination and echocardiography with Left Ventricular Ejection Fraction (LVEF) below 55% 10. Respiratory Assistance: need for either a diurnal and/or a nocturnal ventilation 11. Any co-morbidity (ies) and or previous or planned surgical event(s) which may interfere with DMD natural evolution and or evaluation of outcomes designed to assess DMD Natural History 12. Muscle testing: inability to cooperate with 13. Nuclear Magnetic Resonance Imaging (NMRI): metal implants in regions of interest for the study 14. Unwilling and/or unable to comply with all the study protocol requirements and or procedures 15. Previous inclusion to another clinical trial with an Investigational Medicinal Product (IMP), within the 3 months (or IMP washout period) prior to the screening visit of the study 16. Concomitant participation to any other clinical trialMALE2024-10-18T00:00:002019-03-182019-03-192022-09-052019-03-202022-09-072019-12-192023-06-302023-06-30falseFalseFalseBaseline Study on Duchenne Muscular Dystrophy (DMD) in view to collect data on the natural disease course in a cohort in young male subjects aged from 5 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.Duchenne Muscular Dystrophy100NSAA scaleNSAA scale (age appropriate modified North Star Ambulatory Assessment)Screening 36 months10 Meter Walk/ Run test (10MW/RT)Time function TestScreening 36 months6 Minutes Walk Test (6 MWT)Motor Function MeasurementScreening 36 monthsMyoset : Myo-grip, -pinchMotor Function MeasurementInclusion 36 monthsACTIMYOMotor Function MeasurementInclusion 36 monthsMuscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)Muscle ImagingInclusion 36 monthsPulmonary Function Test (PFT)Respiratory Function AssessmentInclusion 36 monthsECG - EchocardiographyCardiac Function AssessmentInclusion 36 monthsACTIVLIMPatient Reported OutcomeInclusion 36 monthsEQ-5DQuestionnaire of LifeInclusion 36 monthsFalse59FalseFalseFalseFalse NCT03689660Merve KurtDokuz Eylul UniversityOTHERFeasibility of Virtual Reality in Children With Neuromuscular Disease, Effectiveness of Virtual Reality and Biofeedback2022-06UNKNOWNOur study is a randomized controlled study and the subjects included in the study will be divided into three groups as virtual reality training, biofeedback training, and conventional rehabilitation.INTERVENTIONALInclusion Criteria: * Volunteer to participate in the study * Being diagnosed with the neuromuscular disease * No other systemic or neurological disease * No significant visual or auditory loss * Continuation of ambulation (10 m walking independently) * Be able to understand simple commands Exclusion Criteria: * Performing a drug change at 3 months before treatment or during treatment which may affect muscle strength * Acute inflammation in the musculoskeletal system * Finding any orthopedic problem that prevents activities during the researchALL2024-10-18T00:00:002018-09-262018-09-262022-06-162018-09-282022-06-222019-02-012023-05-012023-10-01trueFalseFalseOur study is a randomized controlled study and the subjects included in the study will be divided into three groups as virtual reality training, biofeedback training, and conventional rehabilitation.Neuromuscular Disease;Duchenne Muscular Dystrophy;Spinal Muscular Atrophy;Virtual Reality;BiofeedbackNA24The Motor Function Measure-32MFM-32 is a scale developed to evaluate motor functions of children and adults with neuromuscular disease. The scale can be used to evaluate both in children with and without walking problems.The MFM-32 consists of 32 items. Each item is answered with a 4-point likert scale (0 = cannot initiate the exercise or maintain its starting position, 1 = partially completes the exercise, 2 = completes exercises with compensations, slowly or roughly, 3 = completes the exercise in the standard pattern). The scale can be used for the evaluation of individuals aged between 6 and 60 years.30 minutesPediatric Functional Independence MeasureWeeFIM consists of 18 items divided into 6 sub-scales (self-care, sphincter control, mobility, locomotion, communication, social communication). Each item is scored from 1 to 7. A higher score indicates a better functional level.5 minutesBalance Master SystemThe static and dynamic balance evaluated using the Balance Master System ver. 8.1. (NeuroCom International Inc. Clackamas, OR, USA) force platform system which has multiple testing protocols designed to examine balance. The system includes a computer linked force plate that records data with the aid of crystal transducers.20 minutesVignos ScaleThe Vignos Scale has been developed to evaluate the lower extremity functions. The scale allows the lower extremity functions to be scored between 1 (can walk and climb stairs without help) and -10 (bed dependent).2 MinutesFeasibility of Virtual RealityThe feasibility of virtual reality will be examined by laboratory tests. Laboratory tests to be carried out are as follows: Creatine Kinase, Lactate Dehydrogenase (LDH), Myoglobin, Serum Electrolytes, C-Reactive Protein levels. These are agents that are indicative of muscle destruction or inflammation. Will be evaluated in order to follow muscle destruction.1 MinutesPediatric Motivation ScaleThe PMOT is recommended for assessing motivation to rehabilitation program in children aged 8 to 18 years. It comprises six subscales (effort-importance, interest-enjoyment, competence, relatedness, autonomy, and value-usefulness) with total 21 items. While the 19 items of the scale are answered with a 6-point smiley face scale (1 = absolutely false, 6 = absolutely correct), there are 2 open-ended questions on the scale. The high scores in each sub-scales indicate that the child's motivation in that sub-section is high. A higher total score indicates that the motivation is intrinsically arranged and that the child has a high motivation. From this point of view, the scale gives information about both the type of motivation and the amount of motivation of the child.5 MinutesVisual Analog ScaleVisual Analog Scale will be applied to evaluate muscle pain. It has a fixed line between two end adjectives of 100 mm length. The end adjectives in our study will be "no pain" and "too much pain".1 MinutePediatric Functional Reaching TestFor the Pediatric Functional Reach test, children will be asked to raise their arms 90o in an upright posture position, extending to the maximum possible distance in three directions, forward, right, and left. Reach distances will be measured by pointing the wall with the end point of the third finger, and distances; "start", "final" and "difference" will be determined in cm using tape measure.1 MinuteFall FrequencyThe frequency of the fall will be questioned with a chart created by the researchers. The family will be asked to record the children's each fall a week before the study and a week after the treatment.1 MinuteMuscle Strength Test with Hand Held DinamometerUpper and lower limb muscles strength will be evaluated with hand held dinamometer device. This device allows recording of muscle strength in kilograms.20 minutesTimed Up Go TestFor the time up go test, children will be asked to walk with two walking cones at a distance of 10 meters, at normal walking speeds, and the elapsed time will be recorded in seconds.2 MinutesStair Climb TestChildren will be asked to climb up and down as quickly as they can, without running the steps, on a ladder of 16-20 cm height and 8-14 steps and the elapsed time will be recorded in seconds.2 MinutesT-shirt Wear Remove TestFor the T-shirt pull-out test, the children will be asked to wear a T-Shirt in the sitting position as soon as possible and the elapsed time will be recorded in seconds; then they will be asked to remove the T-Shirt as soon as possible and the elapsed time will be recorded in seconds.2 MinutesStand Up from Supine Position TestFrom the supine position to stand up, children will be asked to lie on the back of the body, the arms next to the body, the legs as closed as possible, and the head on the midline on a mat. Then, from this position, they will be asked to stand as soon as possible and the elapsed time will be recorded in seconds.1 MinutesFalse618FalseFalseFalseFalse NCT04139460University Hospital OlomoucUniversity Hospital OlomoucOTHERCRT-P or CRT-D in Dilated Cardiomyopathy2020-03NOT_YET_RECRUITINGThe ICD-Reality study is a non-commercial, investigator-led, multicenter, prospective, randomized, controlled trial. We aim to determine the effect of CRT-D or CRT-P implantation in non-ischemic cardiomyopathy and heart failure patients. The reason why we initiated this trial is the lack of evidence-based treatment for the significant number of these patients. In these patients, 5-year mortality remains as high as 20% despite recent therapeutic advances. Based on currently available evidence, because of a significant decrease in mortality due to modern pharmacotherapy, it is not certain which of these patients should receive a CRT-P and who should receive a CRT-D. No dedicated and adequately powered trial has addressed this important question. We hypothesize that patients with symptomatic HF, LVEF ≤35%, without left ventricular mid-wall fibrosis on LGE-CMR, will not benefit from CRT-D implantation compared with CRT-P only implantation. If our hypothesis is confirmed, this could provide evidence for the management of these patients with a significant impact on common daily praxis and health care expenditures. We aim to enroll 600 patients in the trial. 924 patients are needed to be screened for these 600 patients to be randomized. Patients with non-ischemic HF visiting an out-patient department and possibly eligible for the trial will have their pharmacotherapy optimized. Patients with a significant amount of fibrosis will be excluded from the study and treated according to local practice with an emphasis on ICD implantation to prevent SCD. After fulfilling all eligibility criteria, including maximally tolerated pharmacotherapy, subjects will be randomized by the physicians who enrolled them in a 1:1 ratio to receive CRT-D or CRT-P implantation. All patients will be followed-up for at least 3 years after the implantation.INTERVENTIONALInclusion Criteria: * ≥ 18 years of age at the time of screening * Documented non-ischemic HF with an LVEF ≤ 35 * QRS≥130ms; NYHA class II-IV * Signed written informed consent * NT-proBNP above 200 pg/ml Exclusion Criteria: * Uncorrected congenital heart disease or valve obstruction * obstructive cardiomyopathy * active myocarditis * constrictive pericarditis * untreated hypothyroidism or hyperthyroidism * adrenal insufficiency * active vasculitis due to collagen vascular disease * Presence on the urgent waiting list for a heart transplant (UNOS category 1A or 1B, or equivalent) * Patients on the non-urgent waiting list for a heart transplant (UNOS category 2 or 7, or equivalent) are eligible for inclusion in the study * Recipient of any major organ transplant (e.g., lung, liver, heart) * Receiving or has received cytotoxic or cytostatic chemotherapy and/or radiation therapy for treatment of a malignancy within 6 month before randomization or clinical evidence of current malignancy, with the following exceptions: basal or squamous cell carcinoma of the skin, cervical intraepithelial neoplasia, prostate cancer (if stable localized disease, with a life expectancy of \> 2.5 years in the opinion of the investigator) * Known to be human immunodeficiency virus positive with an expected survival of less than 5 years due to HIV * Chronic kidney disease with glomerular filtration rate \<30 ml/min * Chronic dialysis treatment * Recent (within 3 months) history of alcohol or illicit drug abuse disorder, based on self-report * Any condition (e.g., psychiatric illness) or situation that, in the investigator's opinion, could put the subject at significant risk, confound the study results, or interfere significantly with the subject's participation in the study * Unwilling to participate Additional information related to inclusion and exclusion criteria: * The qualifying LVEF and NT-proBNP level has to be measured after a maximal tolerated pharmacotherapy of heart failure has been achieved. * A non-ischemic cause of HF has to be determined by coronary angiography. Patients could be included even if they will have one or two coronary arteries with stenosis, if the extent of coronary artery disease will not be considered to be sufficient to account for the reduced LVEF. Patients with a significant coronary heart disease (CAD) will be excluded. * Patients with an existing conventional pacemaker could be included if they will be willing to have the device changed or upgraded. * Patients with any form of atrial fibrillation will not be excluded.ALL2024-10-18T00:00:002019-10-212019-10-242020-03-242019-10-252020-03-252020-062026-012026-01trueFalseFalseThe ICD-Reality study is a non-commercial, investigator-led, multicenter, prospective, randomized, controlled trial. We aim to determine the effect of CRT-D or CRT-P implantation in non-ischemic cardiomyopathy and heart failure patients. The reason why we initiated this trial is the lack of evidence-based treatment for the significant number of these patients. In these patients, 5-year mortality remains as high as 20% despite recent therapeutic advances. Based on currently available evidence, because of a significant decrease in mortality due to modern pharmacotherapy, it is not certain which of these patients should receive a CRT-P and who should receive a CRT-D. No dedicated and adequately powered trial has addressed this important question. We hypothesize that patients with symptomatic HF, LVEF ≤35%, without left ventricular mid-wall fibrosis on LGE-CMR, will not benefit from CRT-D implantation compared with CRT-P only implantation. If our hypothesis is confirmed, this could provide evidence for the management of these patients with a significant impact on common daily praxis and health care expenditures. We aim to enroll 600 patients in the trial. 924 patients are needed to be screened for these 600 patients to be randomized. Patients with non-ischemic HF visiting an out-patient department and possibly eligible for the trial will have their pharmacotherapy optimized. Patients with a significant amount of fibrosis will be excluded from the study and treated according to local practice with an emphasis on ICD implantation to prevent SCD. After fulfilling all eligibility criteria, including maximally tolerated pharmacotherapy, subjects will be randomized by the physicians who enrolled them in a 1:1 ratio to receive CRT-D or CRT-P implantation. All patients will be followed-up for at least 3 years after the implantation.Cardiomyopathy, Dilated, 3BNA924Re-hospitalization for heart failureEvent rate0-3 years after device implantationVentricular tachycardiaEvent rate, sustained ventricular tachycardia documentation during follow-up0-3 years after device implantationMajor adverse cardiac events (MACE)Event rate of MACE, defined as a composite of nonfatal stroke, nonfatal myocardial infarction, and cardiovascular death0-3 years after device implantationSudden cardiac deathEvent rate of sudden cardiac death0-3 years after device implantationCardiovascular deathEvent rate of cardiovascular death0-3 years after device implantationResuscitated cardiac arrest or sustained ventricular tachycardiaEvent rate of resuscitated cardiac arrest or sustained ventricular tachycardia0-3 years after device implantationDevice-related complicationsEvent rate of any complication requiring hospitalization0-3 years after device implantationThe impact in terms of overall quality of life by the SF-36 QuestionnaireThe SF-36 measures eight scales: physical functioning, role physical, bodily pain, general health, vitality, social functioning, role emotional, and mental health. The SF-36 consists of eight scaled scores, which are the weighted sums of the questions in their section. Each scale is directly transformed into a 0-100. The lower the score the more disability. The higher the score the less disability.3 years after device implantationThe impact in terms of overall quality of life by the MacNew QuestionnaireThe MacNew consists of 27 items which fall into three domains: 13-item physical limitations domain scale, 14-item emotional function domain scale, 13-item social function domain scale. The maximum possible score in any domain is 7 (high QoL). The minimum is 1 (low QoL). Missing responses do not contribute to the score.3 years after device implantationFalse1899FalseFalseFalseFalse NCT06224660SRD-001-1004Sardocor Corp.INDUSTRYModulation of SERCA2a of Intra-Myocytic Calcium Trafficking in Cardiomyopathy Secondary to Duchenne Muscular Dystrophy2024-01NOT_YET_RECRUITINGThis research study is testing whether an experimental drug, called SRD-001, is safe and helps the weakened heart of patients with Duchenne muscular dystrophy (DMD) regain its ability to effectively pump blood to the rest of the body. SRD-001 is a form of gene therapy. The goal of SRD-001 gene therapy is to provide the heart muscle cells with extra copies of the SERCA2a gene so that they can produce more SERCA2a protein to help the heart muscle cells squeeze/contract better. Researchers will compare SRD-001 treated participants with no-treatment participants; all participants will continue to take their current heart medications. All participants will be followed very closely for 2 years and undergo cardiac magnetic resonance imaging of their heart at baseline, year 1 and year 2 along with assessment of upper limb function and lung function. After the 2 years of close follow-up, all participants will roll over into long-term follow-up where they will be called biannually for information on their current medical status.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD with confirmatory genetic testing * Cardiomyopathy with left ventricular scar in at least 3 of 16 segments * Left ventricular ejection fraction \< 40% * Individualized, optimized cardiac medical therapy and glucocorticoid treatment for at least 12 months prior to enrollment * Willing and able to provide informed consent Exclusion Criteria: * Abnormal blood pressure * Non-DMD-related liver function test elevations * Cystatin C ≥ 1.2 mg/L * Thrombocytopenia * Anemia * Inadequate pulmonary functionMALE2024-10-18T00:00:002024-01-112024-01-242024-01-242024-01-252024-01-252024-032027-022030-02trueTrueFalseThis research study is testing whether an experimental drug, called SRD-001, is safe and helps the weakened heart of patients with Duchenne muscular dystrophy (DMD) regain its ability to effectively pump blood to the rest of the body. SRD-001 is a form of gene therapy. The goal of SRD-001 gene therapy is to provide the heart muscle cells with extra copies of the SERCA2a gene so that they can produce more SERCA2a protein to help the heart muscle cells squeeze/contract better. Researchers will compare SRD-001 treated participants with no-treatment participants; all participants will continue to take their current heart medications. All participants will be followed very closely for 2 years and undergo cardiac magnetic resonance imaging of their heart at baseline, year 1 and year 2 along with assessment of upper limb function and lung function. After the 2 years of close follow-up, all participants will roll over into long-term follow-up where they will be called biannually for information on their current medical status.DMD-Associated Dilated CardiomyopathyPHASE112Rate of all-cause mortalityDeathFrom Day 1 to Week 52 and Week 104Rate and severity of related treatment-emergent adverse eventsAdverse events related to the investigational product or the administration procedureFrom Day 1 to Week 52 and Week 104Rate and severity of all treatment-emergent adverse eventsAdverse eventsFrom Day 1 to Week 52 and Week 104Rate of cell-mediated immune reactionCell-mediated immune reaction as assessed by enzyme-linked immunosorbent spot (ELISpot)From Day 1 to Week 52Change, including normal/abnormal shifts, in 12-lead electrocardiogram (ECG)Change in the heart's electrical activityFrom Day 1 to Week 52 and Week 104Change, including normal/abnormal shifts, in laboratory evaluationsHematology, serum chemistries, urinalysis, cardiac enzymes and anti-AAV1 antibodiesFrom Day 1 to Week 52 and Week 104False18FalseFalseFalseFalse NCT05540860EDG-5506-210Edgewise Therapeutics, Inc.INDUSTRYA Study of EDG-5506 in Children with Duchenne Muscular Dystrophy (LYNX)2024-09RECRUITINGThe LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an open-label part B.INTERVENTIONALKey Common Inclusion Criteria: 1. A documented mutation on the DMD gene and phenotype consistent with Duchenne muscular dystrophy. 2. Able to complete the stand from supine in ≤ 10 seconds and able to perform the 4-stair climb in \< 10 seconds at the Screening visit. 3. Body weight greater than or equal to 15 kg at the Screening visit. For Cohorts 1, 2, 3, 4 and 5: Aged 4-9 years on a stable dose of corticosteroids for a minimum of 6 months prior to the Baseline visit. For Cohort 2 Non-Steroid (Cohort 2NS): Aged 4-7 years not on corticosteroids within 6 months prior to the Baseline visit. Key Common Exclusion Criteria: 1. Medical history or clinically significant physical exam/laboratory result that, in the opinion of the investigator, would render the participant unsuitable for the study. This includes venous access that would be too difficult to facilitate repeated blood testing. 2. A forced vital capacity \< 60% predicted at the Screening visit for those participants who are \> 8 years old at Screening. 3. A cardiac echocardiography showing left ventricular ejection \< 45% at the Screening visit. 4. Receipt of an investigational drug within 30 days or 5 half-lives (whichever is longer) of the Screening visit in the present study. 5. Receipt of a stable dose of an approved exon-skipping therapy with a treatment duration of less than 1 year prior to the Screening visit. For Cohort 2 Non-Steroid (Cohort 2NS): Receipt of oral corticosteroids for the treatment of Duchenne muscular dystrophy in the previous 6 months. Participants will not be tapered off steroids for the purpose of this study and oral corticosteroids for the treatment of Duchenne muscular dystrophy may be initiated after the Week 16 visit.MALE2024-10-18T00:00:002022-09-062022-09-122024-09-162022-09-152024-09-192022-10-242026-022026-02trueTrueFalseThe LYNX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics and biomarkers in children with Duchenne muscular dystrophy including a randomized, double-blind, placebo-controlled part A, followed by an open-label part B.Duchenne Muscular DystrophyPHASE272Number of adverse events during treatment with sevasemten or placeboAll participants24 monthsSeverity of adverse events during treatment with sevasemten or placeboAll participants24 monthsIncidence of abnormal clinical chemistry test resultsAll participants24 monthsIncidence of abnormal hematology test resultsAll participants24 monthsIncidence of abnormal coagulation test resultsAll participants24 monthsIncidence of abnormal urinalysis test resultsAll participants24 monthsPharmacokinetics as measured by steady state plasma concentrationAll participants24 monthsChange from Baseline in serum creatinine kinaseAll participants12 weeksChange from Baseline in fast skeletal muscle troponin IAll participants12 weeksFalse49TrueFalseFalseFalse NCT06594094HG30201HuidaGene Therapeutics Co., Ltd.INDUSTRYAn Open-label, Multidose Dose-escalation Study to Understand the Safety of CRISPR Gene-editing Therapy and Its Long-Lasting Effects in DMD Patients (MUSCLE)2024-09NOT_YET_RECRUITINGDuchenne muscular dystrophin (DMD) is an X-linked, fatal muscle-wasting disease caused by mutations in the DMD gene encoding the dystrophin proteins, with symptom onset before age of 6 years in boys. These mutations abolish dystrophin production in the muscle, leading to dystrophin deficiency at the myofiber membrane, continued fiber degeneration, the need for assisted ventilation, respiratory inflammation, loss of walking ability in their teens, followed by respiratory and cardiac decline, and eventually premature death before the age of 30. Currently, there are only glucocorticoids for the standard supportive therapy of DMD, which can improve disease symptoms but do not change the outcome of the disease, Three antisense oligonucleotide (ASOs) medicines have been approved to treat DMD with exon 45-55 hotspot region mutations. However, they can only restore trace amounts of dystrophin protein, which is insufficient to bring real clinical benefits. Gene replacement therapy has been approved using adeno-associated virus (AAV) vectors to deliver the "mini-dystrophin" gene. Yet, mini-dystrophin gene-expression versions of truncated dystrophin functionality are sacrificed and limited. HG302 uses a single AAV vector to deliver the CRISPR/hfCas12Max DNA editing system in the human DMD exon 51 splice donor site. Preclinical studies have shown that a single intravenous injection of HG302 significantly restores dystrophin protein expression in muscle fibers and rescues their muscle function in humanized DMD mice to wild-type levels, with long-lasting and durable efficacy.INTERVENTIONALInclusion Criteria: * Males ≥ 4 and ≤8 years at the time of signing informed consent, with clinical diagnosis of DMD; * DMD gene mutation types are deletions in exons 52, 52-61, or 52-63; * Able to walk at least 10 meters independently; * Willing to cooperate with muscle biopsy test; * Acceptable hematology, clinical chemistry, and urine laboratory parameters. Exclusion Criteria: * Presence of active infection; * Presence of DMD-associated cardiomyopathy manifestations; * Respiratory insufficiency requiring invasive or non-invasive ventilation; * Serious infections such as pneumonia, pyelonephritis, or meningitis within 4 weeks prior to receiving trial drug infusion; * Prior central nervous system surgery within 6 months before enrolment; * Use of any investigational drug, or exon-skipping drug (whether investigational or not) 6 months prior to Screening; * Previous treatment with any gene therapy or cell therapy (e.g., stem cell transplantation); * Any other conditions that would not allow the potential subject to complete follow-up examinations during the study and would, in the opinion of the investigator, make the potential subject unsuitable for the study.MALE2024-10-18T00:00:002024-09-102024-09-102024-09-262024-09-192024-10-012024-10-302026-09-302026-09-30falseFalseFalseDuchenne muscular dystrophin (DMD) is an X-linked, fatal muscle-wasting disease caused by mutations in the DMD gene encoding the dystrophin proteins, with symptom onset before age of 6 years in boys. These mutations abolish dystrophin production in the muscle, leading to dystrophin deficiency at the myofiber membrane, continued fiber degeneration, the need for assisted ventilation, respiratory inflammation, loss of walking ability in their teens, followed by respiratory and cardiac decline, and eventually premature death before the age of 30. Currently, there are only glucocorticoids for the standard supportive therapy of DMD, which can improve disease symptoms but do not change the outcome of the disease, Three antisense oligonucleotide (ASOs) medicines have been approved to treat DMD with exon 45-55 hotspot region mutations. However, they can only restore trace amounts of dystrophin protein, which is insufficient to bring real clinical benefits. Gene replacement therapy has been approved using adeno-associated virus (AAV) vectors to deliver the "mini-dystrophin" gene. Yet, mini-dystrophin gene-expression versions of truncated dystrophin functionality are sacrificed and limited. HG302 uses a single AAV vector to deliver the CRISPR/hfCas12Max DNA editing system in the human DMD exon 51 splice donor site. Preclinical studies have shown that a single intravenous injection of HG302 significantly restores dystrophin protein expression in muscle fibers and rescues their muscle function in humanized DMD mice to wild-type levels, with long-lasting and durable efficacy.Duchenne Muscular Dystrophin (DMD)NA6Incidence and severity of systemic adverse eventsNumber of adverse events (AEs), serious adverse events (SAEs), and dose-limiting toxicities (DLTs)26 weeksChange from baseline in percentage of dystrophin positive fiberTest percentage of dystrophin positive fiber to detection of dystrophin expression26 weeksChange from baseline in dystrophin fiber intensityTest dystrophin fiber intensity to detection of dystrophin expression26 weeksChange from baseline in North Star Ambulatory Assessment scaleNorth Star Ambulatory Assessment scale documents motor performance in children, with total score range from 0-34, the higher score means better motor performance26 weeksFalse48FalseFalseFalseFalse NCT02329769PRO044-CLIN-02BioMarin PharmaceuticalINDUSTRYOpen Label, Extension Study of PRO044 in Duchenne Muscular Dystrophy (DMD)2017-12TERMINATEDThe purpose of this study is to see whether PRO044 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 44 in the DNA for the dystrophin protein.INTERVENTIONALInclusion Criteria: 1. Subjects previously treated with PRO044. 2. Continued use of glucocorticoids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on steroids for the duration of the study. Changes to the dose regimen or cessation of glucocorticoids will be at the discretion of the Principle Investigator (PI) in consultation with the subject/parent and the Medical Monitor. If the subject is not on steroids, involvement in the study needs to be discussed with the medical monitor Exclusion Criteria: 1. Current, or history of, liver or renal disease. 2. Acute illness within 4 weeks prior to the first dose of PRO044 (Week 1) which may interfere with the measurements. 3. Severe cardiac myopathy which in the opinion of the Investigator prohibits participation in this study 4. Need for daytime mechanical ventilation. 5. Screening aPTT above the upper limit of normal (ULN). 6. Screening platelet count below the lower limit of normal (LLN). 7. Use of anticoagulants, antithrombotics or antiplatelet agents. 8. Use of any investigational product within 6 months prior to the start of Screening for the study. 9. Current or history of drug and/or alcohol abuse.MALE2024-10-18T00:00:002014-12-222014-12-312017-12-062015-01-012017-12-082014-122016-07-012016-08-31trueThe purpose of this study is to see whether PRO044 is safe and effective to use as medication for Duchenne Muscular Dystrophy (DMD) patients with a mutation around location 44 in the DNA for the dystrophin protein.Duchenne Muscular DystrophyPHASE215Efficacy of PRO044 (composite of several measures)Efficacy parameters: Muscle Function * 6 Minute Walk Distance (6MWD) * North Star Ambulatory Assessment * Timed tests (10-meter walk/run, rising from floor, stair climb) * DMD Functional Outcomes Questionnaire (DMD-FOS) -for ambulant subjects only * Egen Klassification - for non-ambulant subjects. Muscle strength * Pulmonary Function (Spirometry) * Handheld myometry. Exploratory: * Performance Upper Limb (PUL). * Patient Reported Outcome measure (PROM).After 48 weeks of treatmentSafety and tolerability of PRO044 (treatement emergent adverse events)Number of subjects with 1 or more treatement emergent adverse events following SC or IV PRO044 dosingAfter 48 weeks of treatmentAssess the pharmacokinetics of PRO044 (composite of several measures)Pharmacokinetic parameters: * t ½ * AUC: 0-24h, 0-∞ (where applicable) * Cmax * tmax * CL (for IV subjects) or CL/F (for SC subjects) * PRO044 concentrations in muscle tissue.After 48 weeks of treatmentFalse920FalseFalseFalseFalse NCT03760029C3391004PfizerINDUSTRYA Natural History Study In Chinese Male Patients With Duchenne Muscular Dystrophy2024-09COMPLETEDThis is a multicenter, prospective, single cohort study designed to describe the natural history of DMD in Chinese male patients. A total of approximately 330 subjects will be enrolled with the target number of subjects in each group as below: * Group 1, Ambulatory subjects aged \<6 years, approximately 100 subjects; * Group 2, Ambulatory subjects aged \>=6 years, approximately 180 subjects; * Group 3, Non-ambulatory subjects, approximately 50 subjects. Subjects will visit sites every 6 months. Each subject will be observed for at least 24 months. All subjects will remain enrolled until the study completion date, such that some will have data collected after Month 24. Subjects, who complete Visit 5/Month 24 at least 6 months prior to study completion, will be asked to complete an additional visit at Month 30.INTERVENTIONALInclusion Criteria: 1. Chinese male patients with any age, diagnosed with DMD. Diagnosis must be confirmed in subject's medical history and by genetic testing obtained during routine clinical care for diagnostic purposes as reported from an appropriate regulated laboratory using a clinically validated genetic test (genetic testing is not provided by the sponsor). 2. Subjects who are \>=4 years old must be receiving glucocorticosteroids for a minimum of 6 months prior to signing informed consent. There should be no significant change (\<0.2 mg/kg) in dosage or dose regimen (not related to body weight change) for at least 3 months immediately prior to signing the informed consent. Subjects who are aged \>4 years will be exempt from this requirement; those not taking GC will be eligible if the initiation of GC treatment in these subjects is considered inappropriate in the opinion of Investigators. Exclusion Criteria: 1. Any injury which may impact functional testing. Previous injuries must be fully healed prior to consenting. Prior lower limb fractures must be fully healed and at least 3 months from injury date. 2. Presence or history of other musculoskeletal or neurologic disease or somatic disorder not related to DMD including pulmonary, cardiac, and cognitive diseases. 3. Subjects \>=4 years old who have not completed the varicella vaccination. 4. Participation in other studies involving investigational drug(s) for a minimum of 90 days prior to signing the informed consent and/or during study participation.MALE2024-10-18T00:00:002018-11-152018-11-282024-09-092018-11-302024-09-192019-07-242023-03-212023-03-21falseFalseFalseThis is a multicenter, prospective, single cohort study designed to describe the natural history of DMD in Chinese male patients. A total of approximately 330 subjects will be enrolled with the target number of subjects in each group as below: * Group 1, Ambulatory subjects aged \<6 years, approximately 100 subjects; * Group 2, Ambulatory subjects aged \>=6 years, approximately 180 subjects; * Group 3, Non-ambulatory subjects, approximately 50 subjects. Subjects will visit sites every 6 months. Each subject will be observed for at least 24 months. All subjects will remain enrolled until the study completion date, such that some will have data collected after Month 24. Subjects, who complete Visit 5/Month 24 at least 6 months prior to study completion, will be asked to complete an additional visit at Month 30.Duchenne Muscular DystrophyNA312Age of Participants When They Failed to WalkParticipant's age at life-altering clinical milestones- failure to walk was calculated based on the birthdate and the date of failure to walk as reported by caregiver during 30 months of this study. Participants who were not reported being failure to walk by their caregivers were censored on the day of their last visit. Kaplan-Meier method was used for analysis.Up to Month 30Age of Participants When They Failed to StandParticipant's age at life-altering clinical milestones- failure to stand was calculated based on the birthdate and the date of failure to stand as reported by caregiver during 30 months of this study. Participants who were not reported being failure to stand by their caregivers were censored on the day of their last visit. Kaplan-Meier method was used for analysis.Up to Month 30Age of Participants When They Failed to Self-feedParticipant's age at life-altering clinical milestones- failure to self-feed during 30 months of this study was analyzed using the Kaplan-Meier method. Age was summarized in years.Up to Month 30Change From Baseline in Northstar Ambulatory Assessment (NSAA) Total Score at Month 6: Ambulatory Participants Aged >=3 YearsNSAA is a 17-item test that grades performance of various functional skills using the following scale: 0 (unable to achieve goal independently), 1 (modified method but achieves goal with no physical assistance), or 2 ("normal"- no obvious modification of activity). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (example \[e.g.\] standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was calculated by adding the responses of all 17 items and ranged from 0 to 34, with higher scores indicating better function. NSAA was only performed in ambulatory participants aged \>=3 years old as pre-specified in protocol.Baseline (Day 1) and Month 6Change From Baseline in NSAA Total Score at Month 12: Ambulatory Participants Aged >=3 YearsNSAA is a 17-item test that grades performance of various functional skills using the following scale: 0 (unable to achieve goal independently), 1 (modified method but achieves goal with no physical assistance), or 2 ("normal"- no obvious modification of activity). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was calculated by adding the responses of all 17 items and ranged from 0 to 34, with higher scores indicating better function. NSAA was only performed in ambulatory participants aged \>=3 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in NSAA Total Score at Month 18: Ambulatory Participants Aged >=3 YearsNSAA is a 17-item test that grades performance of various functional skills using the following scale: 0 (unable to achieve goal independently), 1 (modified method but achieves goal with no physical assistance), or 2 ("normal"- no obvious modification of activity). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was calculated by adding the responses of all 17 items and ranged from 0 to 34, with higher scores indicating better function. NSAA was only performed in ambulatory participants aged \>=3 years old as pre-specified in protocol.Baseline (Day 1) and Month 18Change From Baseline in NSAA Total Score at Month 24: Ambulatory Participants Aged >=3 YearsNSAA is a 17-item test that grades performance of various functional skills using the following scale: 0 (unable to achieve goal independently), 1 (modified method but achieves goal with no physical assistance), or 2 ("normal"- no obvious modification of activity). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was calculated by adding the responses of all 17 items and ranged from 0 to 34, with higher scores indicating better function. NSAA was only performed in ambulatory participants aged \>=3 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in NSAA Total Score at Month 30: Ambulatory Participants Aged >=3 YearsNSAA is a 17-item test that grades performance of various functional skills using the following scale: 0 (unable to achieve goal independently), 1 (modified method but achieves goal with no physical assistance), or 2 ("normal"- no obvious modification of activity). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was calculated by adding the responses of all 17 items and ranged from 0 to 34, with higher scores indicating better function. NSAA was only performed in ambulatory participants aged \>=3 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Performance of Upper Limb (PUL) 2.0 Total Score at Month 6: Participants Aged >=10 YearsPUL 2.0 scale is a 22-item scale used to assess the change that occurs in motor performance of the upper limb overtime from when a participant is still ambulant to the time participant loses all arm function when non-ambulant. PUL 2.0 includes an entry item to define broad starting functional level and 22 items subdivided into shoulder level (six items), mid-level (nine items), and distal level (seven items). Each dimension (shoulder, mid, distal) can be scored separately. There is maximum score of 12 for shoulder level, 17 for mid-level, and 13 for distal level. The total score was calculated by adding three level scores and ranged from 0-42. Higher score indicates better upper limb function. PUL 2.0 total score was assessed in participants aged \>=10 years only as pre-specified in protocol.Baseline (Day 1) and Month 6Change From Baseline in PUL 2.0 Total Score at Month 12: Participants Aged >=10 YearsPUL 2.0 scale is a 22-item scale used to assess the change that occurs in motor performance of the upper limb overtime from when a participant is still ambulant to the time participant loses all arm function when non-ambulant. PUL 2.0 includes an entry item to define broad starting functional level and 22 items subdivided into shoulder level (six items), mid-level (nine items), and distal level (seven items). Each dimension (shoulder, mid, distal) can be scored separately. There is maximum score of 12 for shoulder level, 17 for mid-level, and 13 for distal level. The total score was calculated by adding three level scores and ranged from 0-42. Higher score indicates better upper limb function. PUL 2.0 total score was assessed in participants aged \>=10 years only as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in PUL 2.0 Total Score at Month 18: Participants Aged >=10 YearsPUL 2.0 scale is a 22-item scale used to assess the change that occurs in motor performance of the upper limb overtime from when a participant is still ambulant to the time participant loses all arm function when non-ambulant. PUL 2.0 includes an entry item to define broad starting functional level and 22 items subdivided into shoulder level (six items), mid-level (nine items), and distal level (seven items). Each dimension (shoulder, mid, distal) can be scored separately. There is maximum score of 12 for shoulder level, 17 for mid-level, and 13 for distal level. The total score was calculated by adding three level scores and ranged from 0-42. Higher score indicates better upper limb function. PUL 2.0 total score was assessed in participants aged \>=10 years only as pre-specified in protocol.Baseline (Day 1) and Month 18Change From Baseline in PUL 2.0 Total Score at Month 24: Participants Aged >=10 YearsPUL 2.0 scale is a 22-item scale used to assess the change that occurs in motor performance of the upper limb overtime from when a participant is still ambulant to the time participant loses all arm function when non-ambulant. PUL 2.0 includes an entry item to define broad starting functional level and 22 items subdivided into shoulder level (six items), mid-level (nine items), and distal level (seven items). Each dimension (shoulder, mid, distal) can be scored separately. There is maximum score of 12 for shoulder level, 17 for mid-level, and 13 for distal level. The total score was calculated by adding three level scores and ranged from 0-42. Higher score indicates better upper limb function. PUL 2.0 total score was assessed in participants aged \>=10 years only as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in PUL 2.0 Total Score at Month 30: Participants Aged >=10 YearsPUL 2.0 scale is a 22-item scale used to assess the change that occurs in motor performance of the upper limb overtime from when a participant is still ambulant to the time participant loses all arm function when non-ambulant. PUL 2.0 includes an entry item to define broad starting functional level and 22 items subdivided into shoulder level (six items), mid-level (nine items), and distal level (seven items). Each dimension (shoulder, mid, distal) can be scored separately. There is maximum score of 12 for shoulder level, 17 for mid-level, and 13 for distal level. The total score was calculated by adding three level scores and ranged from 0-42. Higher score indicates better upper limb function. PUL 2.0 total score was assessed in participants aged \>=10 years only as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Rise From Floor Velocity at Month 6: Ambulatory Participants Aged >=3 Years OnlyThe rise from floor velocity was defined as the reciprocal of the time (in seconds) to rise from floor. The rise from floor test was performed only in ambulatory participants aged \>=3 years old as pre-specified in the protocol.Baseline (Day 1) and Month 6Change From Baseline in Rise From Floor Velocity at Month 12: Ambulatory Participants Aged >=3 Years OnlyThe rise from floor velocity was defined as the reciprocal of the time (in seconds) to rise from floor. The rise from floor test was performed only in ambulatory participants aged \>=3 years old as pre-specified in the protocol.Baseline (Day 1) and Month 12Change From Baseline in Rise From Floor Velocity at Month 18: Ambulatory Participants Aged >=3 Years OnlyThe rise from floor velocity was defined as the reciprocal of the time (in seconds) to rise from floor. The rise from floor test was performed only in ambulatory participants aged \>=3 years old as pre-specified in the protocol.Baseline (Day 1) and Month 18Change From Baseline in Rise From Floor Velocity at Month 24: Ambulatory Participants Aged >=3 Years OnlyThe rise from floor velocity was defined as the reciprocal of the time (in seconds) to rise from floor. The rise from floor test was performed only in ambulatory participants aged \>=3 years old as pre-specified in the protocol.Baseline (Day 1) and Month 24Change From Baseline in Rise From Floor Velocity at Month 30: Ambulatory Participants Aged >=3 Years OnlyThe rise from floor velocity was defined as the reciprocal of the time (in seconds) to rise from floor. The rise from floor test was performed only in ambulatory participants aged \>=3 years old as pre-specified in the protocol.Baseline (Day 1) and Month 30Change From Baseline in 10 Meter Walk or Run Velocity at Month 6: Ambulatory Participants Aged >=3 YearsThe 10 meter walk or run test was performed as part of NSAA. The 10 meter walk or run velocity was defined as the reciprocal of the time (in seconds) to complete the 10 meter run or walk test. The 10 meter walk or run test was performed in ambulatory children \>=3 years old only as pre-specified in the protocol.Baseline (Day 1) and Month 6Change From Baseline in 10 Meter Walk or Run Velocity at Month 12: Ambulatory Participants Aged >=3 YearsThe 10 meter walk or run test was performed as part of NSAA. The 10 meter walk or run velocity was defined as the reciprocal of the time (in seconds) to complete the 10 meter run or walk test. The 10 meter walk or run test was performed in ambulatory children \>=3 years old only as pre-specified in the protocol.Baseline (Day 1) and Month 12Change From Baseline in 10 Meter Walk or Run Velocity at Month 18: Ambulatory Participants Aged >=3 YearsThe 10 meter walk or run test was performed as part of NSAA. The 10 meter walk or run velocity was defined as the reciprocal of the time (in seconds) to complete the 10 meter run or walk test. The 10 meter walk or run test was performed in ambulatory children \>=3 years old only as pre-specified in the protocol.Baseline (Day 1) and Month 18Change From Baseline in 10 Meter Walk or Run Velocity at Month 24: Ambulatory Participants Aged >=3 YearsThe 10 meter walk or run test was performed as part of NSAA. The 10 meter walk or run velocity was defined as the reciprocal of the time (in seconds) to complete the 10 meter run or walk test. The 10 meter walk or run test was performed in ambulatory children \>=3 years old only as pre-specified in the protocol.Baseline (Day 1) and Month 24Change From Baseline in 10 Meter Walk or Run Velocity at Month 30: Ambulatory Participants Aged >=3 YearsThe 10 meter walk or run test was performed as part of NSAA. The 10 meter walk or run velocity was defined as the reciprocal of the time (in seconds) to complete the 10 meter run or walk test. The 10 meter walk or run test was performed in ambulatory children \>=3 years old only as pre-specified in the protocol.Baseline (Day 1) and Month 30Change From Baseline in Knee Extension of Muscle Strength at Month 6: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right knee extension was analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 6Change From Baseline in Knee Extension of Muscle Strength at Month 12: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right knee extension was analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in Knee Extension of Muscle Strength at Month 18: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right knee extension was analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 18Change From Baseline in Knee Extension of Muscle Strength at Month 24: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right knee extension was analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in Knee Extension of Muscle Strength at Month 30: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right knee extension was analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Elbow Flexion of Muscle Strength at Month 6: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow flexion were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 6Change From Baseline in Elbow Flexion of Muscle Strength at Month 12: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow flexion were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 12Change From Baseline in Elbow Flexion of Muscle Strength at Month 18: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow flexion were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 18Change From Baseline in Elbow Flexion of Muscle Strength at Month 24: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow flexion were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 24Change From Baseline in Elbow Flexion of Muscle Strength at Month 30: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow flexion were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 30Change From Baseline in Elbow Extension of Muscle Strength at Month 6: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow extension were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 6Change From Baseline in Elbow Extension Muscle Strength at Month 12: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow extension were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in Elbow Extension Muscle Strength at Month 18: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow extension were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 18Change From Baseline in Elbow Extension Muscle Strength at Month 24: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow extension were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in Elbow Extension Muscle Strength at Month 30: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right elbow extension were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Shoulder Abduction of Muscle Strength at Month 6: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right shoulder abduction were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 6Change From Baseline in Shoulder Abduction of Muscle Strength at Month 12: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right shoulder abduction were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 12Change From Baseline in Shoulder Abduction of Muscle Strength at Month 18: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right shoulder abduction were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 18Change From Baseline in Shoulder Abduction of Muscle Strength at Month 24: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right shoulder abduction were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 24Change From Baseline in Shoulder Abduction of Muscle Strength at Month 30: Participants Aged >=5 YearsMuscle strength was recorded by handheld myometry. Left and right shoulder abduction were analyzed. The muscle strength test was only performed in participants \>=5 years old as pre-specified in the protocol.Baseline (Day 1) and Month 30Change From Baseline in Range of Motion (ROM) at Bilateral Ankles at Month 6Range of motion was evaluated by using goniometry to record any occurrences of ankle contractures. The ROM at left and right ankles were measured in degrees of passive dorsiflexion.Baseline (Day 1) and Month 6Change From Baseline in ROM at Bilateral Ankles at Month 12Range of motion was evaluated by using goniometry to record any occurrences of ankle contractures. The ROM at left and right ankles were measured in degrees of passive dorsiflexion.Baseline (Day 1) and Month 12Change From Baseline in ROM at Bilateral Ankles at Month 18Range of motion was evaluated by using goniometry to record any occurrences of ankle contractures. The ROM at left and right ankles were measured in degrees of passive dorsiflexion.Baseline (Day 1) and Month 18Change From Baseline in ROM at Bilateral Ankles at Month 24Range of motion was evaluated by using goniometry to record any occurrences of ankle contractures. The ROM at left and right ankles were measured in degrees of passive dorsiflexion.Baseline (Day 1) and Month 24Change From Baseline in ROM at Bilateral Ankles at Month 30Range of motion was evaluated by using goniometry to record any occurrences of ankle contractures. The ROM at left and right ankles were measured in degrees of passive dorsiflexion.Baseline (Day 1) and Month 30Change From Baseline in ROM at Bilateral Elbows at Month 6Range of motion was evaluated by using goniometry to record any occurrences of elbow contractures. The ROM at left and right elbows were measured in degrees of passive extension.Baseline (Day 1) and Month 6Change From Baseline in ROM at Bilateral Elbows at Month 12Range of motion was evaluated by using goniometry to record any occurrences of elbow contractures. The ROM at left and right elbows were measured in degrees of passive extension.Baseline (Day 1) and Month 12Change From Baseline in ROM at Bilateral Elbows at Month 18Range of motion was evaluated by using goniometry to record any occurrences of elbow contractures. The ROM at left and right elbows were measured in degrees of passive extension.Baseline (Day 1) and Month 18Change From Baseline in ROM at Bilateral Elbows at Month 24Range of motion was evaluated by using goniometry to record any occurrences of elbow contractures. The ROM at left and right elbows were measured in degrees of passive extension.Baseline (Day 1) and Month 24Change From Baseline in ROM at Bilateral Elbows at Month 30Range of motion was evaluated by using goniometry to record any occurrences of elbow contractures. The ROM at left and right elbows were measured in degrees of passive extension.Baseline (Day 1) and Month 30Change From Baseline in Percent Predicted Forced Vital Capacity (%pFVC) at Month 12: Participants Aged >=6 YearsForced vital capacity (FVC) is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol.Baseline (Day 1) and Month 12Change From Baseline in %pFVC at Month 24: Participants Aged >=6 YearsFVC is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol.Baseline (Day 1) and Month 24Change From Baseline in %pFVC at Month 30: Participants Aged >=6 YearsFVC is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol.Baseline (Day 1) and Month 30Change From Baseline in %pFVC at Month 12: Participants Aged >=6 Years (Unplanned Analysis)FVC is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 12Change From Baseline in %pFVC at Month 24: Participants Aged >=6 Years (Unplanned Analysis)FVC is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 24Change From Baseline in %pFVC at Month 30: Participants Aged >=6 Years (Unplanned Analysis)FVC is the volume of air that can be maximally forcefully exhaled after taking the deepest breath possible and was measured using spirometry. The percent predicted FVC was calculated from FVC (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for spirometry. The pulmonary function assessments were performed in participants aged \>=6 years as pre-specified in the protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 30Change From Baseline in Percent Predicted Forced Expiratory Volume in One Second (%pFEV1) at Month 12: Participants Aged >=6 YearsForced expiratory volume in one second (FEV1) is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in %pFEV1 at Month 24: Participants Aged >=6 YearsFEV1 is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in %pFEV1 at Month 30: Participants Aged >=6 YearsFEV1 is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in %pFEV1 at Month 12: Participants Aged >=6 Years (Unplanned Analysis)FEV1 is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 12Change From Baseline in %pFEV1 at Month 24: Participants Aged >=6 Years (Unplanned Analysis)FEV1 is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 24Change From Baseline in %pFEV1 at Month 30: Participants Aged >=6 Years (Unplanned Analysis)FEV1 is the volume of air forcefully exhaled in 1 second and was measured using spirometry. The %pFEV1 was calculated from FEV1 (measured in liter) according to age, height (estimated height as derived from the ulna length for non-ambulatory participants), ethnicity, and gender using multi-ethnic reference values for Spirometry. The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 30Change From Baseline in Maximum Inspiratory Pressure at Month 12: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in Maximum Inspiratory Pressure at Month 24: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in Maximum Inspiratory Pressure at Month 30: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Maximum Expiratory Pressure at Month 12: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in SAP.Baseline (Day 1) and Month 12Change From Baseline in Maximum Expiratory Pressure at Month 24: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in SAP.Baseline (Day 1) and Month 24Change From Baseline in Maximum Expiratory Pressure at Month 30: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in SAP.Baseline (Day 1) and Month 30Change From Baseline in Peak Cough Flow at Month 12: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in Peak Cough Flow at Month 24: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in Peak Cough Flow at Month 30: Participants Aged >=6 YearsThe pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in Peak Cough Flow at Month 12: Participants Aged >=6 Years (Unplanned Analysis)The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 12Change From Baseline in Peak Cough Flow at Month 24: Participants Aged >=6 Years (Unplanned Analysis)The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 24Change From Baseline in Peak Cough Flow at Month 30: Participants Aged >=6 Years (Unplanned Analysis)The pulmonary function assessments were performed only in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 30Change From Baseline in Left Ventricular Ejection Fraction (LVEF) at Month 12: Participants Aged >=6 YearsLVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 12Change From Baseline in LVEF at Month 24: Participants Aged >=6 YearsLVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 24Change From Baseline in LVEF at Month 30: Participants Aged >=6 YearsLVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol.Baseline (Day 1) and Month 30Change From Baseline in LVEF at Month 12: Participants Aged >=6 Years (Unplanned Analysis)LVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 12Change From Baseline in LVEF at Month 24: Participants Aged >=6 Years (Unplanned Analysis)LVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 24Change From Baseline in LVEF at Month 30: Participants Aged >=6 Years (Unplanned Analysis)LVEF was the percentage of blood that was ejected out of left ventricle with each contraction, estimated by echocardiography. The LVEF was only performed in participants \>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.Baseline (Day 1) and Month 30Change From Baseline in Wechsler Intelligence Scale for Children (WISC)-IV Score at Month 24: Ambulatory Participants >= 6 to <=16 YearsWISC-IV is an individually administered intelligence test for children between the ages of 6 and 16. The WISC-IV Composites are: Verbal Comprehension, Perceptual Reasoning, Working Memory, and Processing Speed. Scores from the Composites constitute the WISC-IV Full Scale IQ score which ranges from 40 (Exceptionally Low) to 160 (Exceptionally Superior), higher scores indicated more intelligence. The WISC was only performed in ambulatory participants \>= 6 to \<=16 years old as pre-specified in the protocol.Baseline (Day 1) and Month 24Number of Participants With Type of DMD MutationNumber of participants as per type of mutation: exon deletion, exon duplication, point mutation, small insertion, small deletion and others is presented in this outcome measure. One participant could have more than 1 mutation type.Up to Month 30Number of Participants With Each Affected Exon by Mutation TypesNumber of participants with each affected exon by mutation types is presented in this outcome measure. Only those categories with non-zero values have been reported.Up to Month 30Number of Participants With DMD Mutations Affecting Any Exon Between Exon 9 and Exon 13 or Deletion That Affects Both Exon 29 and Exon 30Number of participants with DMD mutations affecting any exon between exon 9 and exon 13 or deletion that affects both exon 29 and exon 30 is presented in this outcome measure.Up to Month 30Change From Baseline in Pediatric Outcomes Data Collection Instrument (PODCI) Global Functioning Scale and Each Core Scale Score (Pediatric Parent Report) at Months 6, 12, 18, 24 and 30The PODCI is a participant-reported assessment of musculoskeletal health intended for use in children and adolescents. The pediatric version was intended for completion by parents or caregivers of children \<=10 years old. It included a Global Function Scale along with core scales: Upper Extremity and Physical Function Core Scale (8 items); Transfer and Basic Mobility Core Scale (11 items); Sports and Physical Functioning Core Scale (21 items); Pain/Comfort Core Scale (3 items); Happiness Core Scale (5 items). The scores of each PODCI global functioning scale and core scales are averaged over the number of items answered (omitted no entry items). Mean of the rescaled values is multiplied by a constant so that each global functioning scale and core scales has a final range of values between 0-100. The higher scores represent less disability and better functioning.Baseline (Day 1) and Months 6, 12, 18, 24 and 30Change From Baseline in PODCI Global Functioning Scale and Each Core Scale Score (Adolescent Parent Report) at Months 6, 12, 18, 24 and 30The PODCI is a participant-reported assessment of musculoskeletal health intended for use in children and adolescents. The pediatric version was intended for completion by parents or caregivers of children \<=10 years old. It included a Global Function Scale along with core scales: Upper Extremity and Physical Function Core Scale (8 items); Transfer and Basic Mobility Core Scale (11 items); Sports and Physical Functioning Core Scale (21 items); Pain/Comfort Core Scale (3 items); Happiness Core Scale (5 items). The scores of each PODCI global functioning scale and core scales are averaged over the number of items answered (omitted no entry items). Mean of the rescaled values is multiplied by a constant so that each global functioning scale and core scales has a final range of values between 0-100. The higher scores represent less disability and better functioning.Baseline (Day 1) and Months 6, 12, 18, 24 and 30Change From Baseline in PODCI Global Functioning Scale and Each Core Scale Score (Adolescent Self Report) at Months 6, 12, 18, 24 and 30The PODCI is a participant-reported assessment of musculoskeletal health intended for use in children and adolescents. The pediatric version was intended for completion by parents or caregivers of children \<=10 years old. It included a Global Function Scale along with core scales: Upper Extremity and Physical Function Core Scale (8 items); Transfer and Basic Mobility Core Scale (11 items); Sports and Physical Functioning Core Scale (21 items); Pain/Comfort Core Scale (3 items); Happiness Core Scale (5 items). The scores of each PODCI global functioning scale and core scales are averaged over the number of items answered (omitted no entry items). Mean of the rescaled values is multiplied by a constant so that each global functioning scale and core scales has a final range of values between 0-100. The higher scores represent less disability and better functioning.Baseline (Day 1) and Months 6, 12, 18, 24 and 30Number of Participants According to Response to Each European Quality of Life (EuroQoL) 5 Dimension 3 Level (EQ-5D-3L) 5 Dimensions at Month 12EQ-5D-3L is a participant completed questionnaire designed to assess impact on health related quality of life. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. The responses record three levels of severity (no problems/some or moderate problems/extreme problems) within a particular EQ-5D dimension. EQ-5D-3L assessment was only performed in participants \>= 16 years old as pre-specified in protocol.Months 12Number of Participants According to Response to Each EQ-5D-3L 5 Dimensions at Month 24EQ-5D-3L is a participant completed questionnaire designed to assess impact on health related quality of life. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. The responses record three levels of severity (no problems/some or moderate problems/extreme problems) within a particular EQ-5D dimension. EQ-5D-3L assessment was only performed in participants \>= 16 years old as pre-specified in protocol.Month 24Number of Participants According to Response to Each EQ-5D-3L 5 Dimensions at Month 30EQ-5D-3L is a participant completed questionnaire designed to assess impact on health related quality of life. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. The responses record three levels of severity (no problems/some or moderate problems/extreme problems) within a particular EQ-5D dimension. EQ-5D-3L assessment was only performed in participants \>= 16 years old as pre-specified in protocol.Month 30Change From Baseline in EQ-5D-3L Visual Analogue Score (VAS) Assessment at Months 12, 24 and 30EQ-5D-3L is a participant completed questionnaire designed to assess impact on health related quality of life. EQ-VAS recorded the participant's self-rated health on a vertical scale ranging from 0 (worst imaginable health state) to 100 (best imaginable health state), where higher scores indicated better quality of life. EQ-VAS assessment was only performed in the participants \>= 16 years old.Baseline (Day 1) and Months 12, 24 and 30Change From Baseline in EQ-5D-3L Index Score at Months 12, 24 and 30EQ-5D-3L index score, participants rated their current health state on 5 single-item dimensions: mobility, self-care, usual activities, pain/discomfort, and anxiety/depression with each dimension having three levels of severity: 1=no problems, 2=some problems and 3=extreme problems. Scoring formula developed by EuroQol Group assigns a utility value for each domain in the profile. Score was transformed and results in a total index score range of 0 to 1.00. Higher scores indicating a better quality of life. EQ-5D-3L was only performed in participants \>= 16 years old.Baseline (Day 1) and Months 12, 24, and 30Number of Participants According to Response to Each EuroQoL 5 Dimension Youth (EQ-5D-Y) 5 Dimensions at Month 12EQ-5D-Y is participant completed questionnaire designed to assess impact on health related quality of life in children and adolescents \<16 years old. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 3 levels: 1=no problems, 2=some problems, and 3=extreme problems.Month 12Number of Participants According to Response to Each EQ-5D-Y 5 Dimensions at Month 24EQ-5D-Y is participant completed questionnaire designed to assess impact on health related quality of life in children and adolescents \<16 years old. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 3 levels: 1=no problems, 2=some problems, and 3=extreme problems.Month 24Number of Participants According to Response to EQ-5D-Y 5 Dimensions at Month 30EQ-5D-Y is participant completed questionnaire designed to assess impact on health related quality of life in children and adolescents \<16 years old. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 3 levels: 1=no problems, 2=some problems, and 3=extreme problems.Month 30Change From Baseline in EQ-5D-Y VAS Assessment at Months 12, 24, and 30EQ-5D-Y is participant completed questionnaire designed to assess impact on health related quality of life in children and adolescents \<16 years old. EQ-VAS recorded the participant's self-rated health on a vertical scale ranging from 0 (worst imaginable health state) to 100 (best imaginable health state).Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in EQ-5D-Y Index Score at Months 12, 24, and 30EQ-5D-Y is participant completed questionnaire designed to assess impact on health related quality of life in children and adolescents \<=16 years old. It is comprised of five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. Each dimension has 3 levels: 1=no problems, 2=some problems, and 3=extreme problems. Participants indicated their health state by choosing the appropriate level from each dimension. The 5 digit health states thus obtained for each dimension were then converted into a single median index value. A health state index score was calculated from individual health profiles using a USA scoring algorithm. Health state index scores generally ranged from -0.109 to 1, where, -0.109= the worst health status, 1= full health. Higher the score the better the better quality of life.Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in Healthcare Resource Utilization (HRU) Survey Responses: Visit to Primary Care Physician, Emergency Room and Office Visits at Months 12, 24, and 30HRU questionnaire is completed by the caregiver and had questions about healthcare resources utilization related to their child's use of healthcare professionals, emergency room visits, and hospitalizations in past 3 months. Change from baseline in mean number of visits to primary care physician, emergency room and office visits is presented in this outcome measure.Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in HRU Survey Responses: Number of Nights in Hospital Due to Disease/Medication for Disease at Months 12, 24, and 30HRU questionnaire is completed by the caregiver and had questions about healthcare resources utilization related to number of nights in hospital due to disease/dedication for disease in past 3 months. Change from baseline in mean number of nights in hospital due to disease or medication for disease is presented in this outcome measure.Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in Out-of-Pocket Money of HRU Survey at Months 12, 24 and 30Caregivers were asked to estimate out-of-pocket costs related to healthcare resource utilization. The number of out of pocket money was defined as the total spent of the past three months in managing child's Duchenne muscular dystrophy.Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in Percent Activity Impairment as Per Work Productivity and Activity Impairment Questionnaire Adapted for Caregiving (WPAI:CG) Caregiver Unchanged at Months 12, 24, and 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Baseline (Day 1) and Months 12, 24, and 30Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 12WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Baseline (Day 1) and Month 12Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 24WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Baseline (Day 1) and Month 24Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Baseline (Day 1) and Month 30Change From Baseline in Percent Overall Work Impairment WPAI: CG Caregiver Unchanged at Months 12, 24, and 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Baseline (Day 1) and Months 12, 24, and 30Percent Activity Impairment Score as Per WPAI: CG at Months 12, 24, and 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Months 12, 24, and 30Percent Work Time Missed Score as Per WPAI: CG at Month 12WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Month 12Percent Work Time Missed Score as Per WPAI: CG at Month 24WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Month 24Percent Work Time Missed Score as Per WPAI: CG at Month 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Month 30Percent Overall Work Impairment Scores as Per WPAI: CG at Months 12, 24, and 30WPAI:CG is a self-reported measure of work productivity and impairment, was completed by caregiver, which had four scores: absenteeism (work time missed); presenteeism (impairment at work/reduced on the job effectiveness); work productivity loss (overall work impairment/absenteeism plus presenteeism); and activity impairment. Each score was expressed as a percentage (0-100%) with higher score indicating greater impairment and less productivity.Months 12, 24, and 30False0FalseFalseFalseTrue NCT03406780CAP-1002-DMD-02Capricor Inc.INDUSTRYA Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy2020-06COMPLETEDHOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD). Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period.INTERVENTIONALInclusion Criteria: 1. Genetically confirmed DMD 2. Reduced upper arm strength as measured by the Performance of Upper Limb 3. Reduced ability to walk/run (if ambulatory) 4. Treatment with systemic glucocorticoids for at least 12 months and at a stable dose at least 6 months prior to study participation, except for weight-based or toxicity-related adjustments 5. Current and up-to-date immunizations Exclusion Criteria: 1. Left ventricular ejection fraction \< 35% 2. BMI \> 45 3. Ambulant if ≥ 18 years of age 4. Exon 44 skip-amenable mutation(s) in the DMD gene 5. Deletion mutation(s) encompassing exons 3-7 of the DMD gene 6. Percent-predicted forced vital capacity (FVC) \< 35% 7. Chronic respiratory disease not related to DMD (for example, asthma, bronchitis, and tuberculosis) 8. History of diabetes requiring treatment with metformin or insulin within 3 months prior to randomization 9. Treatment with an FDA-approved exon skipping therapy for the treatment of DMD if on a stable dose for less than 24 months prior to randomization 10. Treatment with human growth hormone (HGH) within 3 months prior to randomization, unless on a stable dose for at least 24 months prior to randomization 11. Treatment with idebenone within 3 months prior to randomization 12. Treatment with a cell therapy product within 12 months prior to randomization 13. Treatment with an investigational product within 6 months prior to randomizationMALE2024-10-18T00:00:002018-01-152018-01-192020-06-032018-01-232020-06-052018-03-042020-03-102020-03-10trueTrueFalseHOPE-2 is a double-blind clinical trial evaluating the safety and efficacy of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD). Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during a 12-month period.Muscular Dystrophies;Muscular Dystrophy, Duchenne;Muscular Disorders, Atrophic;Muscular Diseases;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, X-Linked;Genetic Diseases, InbornPHASE218Change in the mid-level (elbow) dimension of the Performance of the Upper Limb (PUL)The PUL includes functional tasks that relate to activities of daily living that are very important for quality of life. The PUL has been validated for the assessment of upper limb motor function in individuals with DMD.Month 12Change in the mid-level (elbow) dimension of the PULThe PUL includes functional tasks that relate to activities of daily living that are very important for quality of life. The PUL has been validated for the assessment of upper limb motor function in individuals with DMD.Months 3, 6, and 9Change in regional systolic left ventricular wall thickening as assessed by cardiac MRISystolic thickening is thought to be a principal mechanism of cardiac output generation in people with DMD.Months 6 and 12False10FalseFalseTrueTrue NCT04129294NCNP/DMT02National Center of Neurology and Psychiatry, JapanOTHERExploratory Study of NS-089/NCNP-02 in DMD2022-09COMPLETEDThis study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-089/NCNP-02 in subjects diagnosed with Duchenne muscular dystrophy (DMD), and to determine the dosage for subsequent studies.INTERVENTIONALInclusion Criteria: * Has an out of frame deletion(s) that could be corrected by skipping exon 44 as confirmed by any of methodology at the time of visit 1. If not confirmed by any of methodology that evaluates the relative copy number of all exons (i.e. MLPA etc), must be confirmed through these techniques by the time of visit 3. * DNA sequencing of exon 44 confirms that no DNA polymorphisms occur that could compromise duplex formation between NS-089/NCNP-02 and pre-mRNA. * Male and \>= 8 years and \< 17 years of age at the time of obtaining informed consent and/or assent. Subjects aged \>= 4 years and \< 8 years can be enrolled according to the circumstances. * Able to give informed consent in writing signed by parent(s) or legal guardian who is able to understand all of the study procedure requirements. If applicable, able to give informed assent in writing signed by the subject. * Life expectancy of at least 1 year * Able to ambulate. Non-ambulant subject can be enrolled according to the circumstances. * Have intact muscles, which have adequate quality for biopsy. (No lacks or severe atrophy of biceps brachii or tibialis anterior muscle) * QTc \<450 msec (based on 12-lead ECGs), or \<480 msec for subject with Bundle Branch Block. * Glucocorticoid-naive patients, or patients who have used systemic glucocorticoids for at least 6 months prior to enrollment in this study with no dose changes for at least 3 months prior to enrollment. Exclusion Criteria: * Has participated in other pharmacological clinical trial that might recover dystrophin protein by the readthrough or the exon-skipping therapy, and/or upregulate the dystrophin-associated proteins such as utrophin. * A forced vital capacity (FVC) \< 50% of predicted. * Continuous use of artificial respirator (except for use of NPPV while sleeping) * A left ventricular ejection fraction (EF) \< 40% or fractional shortening (FS) \< 25% based on echocardiogram (ECHO). * Surgery within the last 3 months prior to the first anticipated administration of study medication or planned for anytime between visit 1 of Part 1 and the last visit of Part 2. * Positive hepatitis B surface antigen (HbsAg), hepatitis C antibody test (HCV), or human immunodeficiency virus (HIV) test at screening. * Current diagnosis of any immune deficiency or autoimmune disease. * Current diagnosis of any active or uncontrolled infection, cardiomyopathy, or liver or renal disease. * Use of any other investigational agents and/or experimental agents within 3 months prior to the first anticipated administration of study medication. * History of any severe drug allergy.MALE2024-10-18T00:00:002019-10-152019-10-152022-09-282019-10-162022-09-292019-12-022022-05-312022-05-31falseFalseFalseThis study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-089/NCNP-02 in subjects diagnosed with Duchenne muscular dystrophy (DMD), and to determine the dosage for subsequent studies.Duchenne Muscular DystrophyPHASE1PHASE26Adverse event and adverse drug reaction [Safety and Tolerability]adverse event and adverse drug reactionAt the end of Part 2 (24 weeks treatment period and 12 weeks follow up period)Expression of dystrophin proteinExpression of dystrophin proteinAt the end of the treatment period (24 weeks) of Part 2NSAANorth Star Ambulatory AssessmentAt the end of the treatment period (24 weeks) of Part 2TTSTANDTime to Stand TestAt the end of the treatment period (24 weeks) of Part 2TTRWTime to Run/Walk 10 Meters testAt the end of the treatment period (24 weeks) of Part 26MWT and 2MWTSix-Minute Walk Test (6MWT) and Two-Minute Walk Test (2MWT)At the end of the treatment period (24 weeks) of Part 2TUGTimed Up \& Go (TUG) testAt the end of the treatment period (24 weeks) of Part 2PULPerformance of Upper Limb testAt the end of the treatment period (24 weeks) of Part 2Detection of exon 44-skipped mRNA of dystrophin in muscle tissueDetection of exon 44-skipped mRNA of dystrophin in muscle tissueAt the end of the treatment period (24 weeks) of Part 2NS-089/NCNP-02 concentration of the blood plasmaNS-089/NCNP-02 concentration of the blood plasmaAt the end of Part 2 (24 weeks treatment period and 12 weeks follow up period)Serum Creatine kinase concentrationSerum Creatine kinase concentrationAt the end of Part 2 (24 weeks treatment period and 12 weeks follow up period)False417FalseFalseFalseFalse NCT01081080PITT0110Cooperative International Neuromuscular Research GroupNETWORKCardiac Magnetic Resonance in Children With Muscular Dystrophy2013-01COMPLETEDThis protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy. The purpose of this study is to compare cardiac magnetic resonance (CMR) with the collected cardiac outcome data obtained in protocol: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy.OBSERVATIONALInclusion Criteria: * Participant enrolled in the CINRG study: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy Exclusion Criteria: * Pregnant woman (when uncertain, participants will undergo urine testing) or lactating women * Decompensated congestive heart failure (unable to lie flat during CMR) * Impaired renal excretory function (calculated Glomerular Filtration Rate less than 30mL/min) * Contra-indications to Magnetic Resonance Imaging: * Cardiac pacemaker or implantable defibrillator * Cerebral aneurysm clip * Neural stimulator * Metallic ocular foreign body * Harrington-rod * Any implanted device (i.e. insulin pump, drug infusion device) * Claustrophobia * Metal shrapnel or bulletALL2024-10-18T00:00:002010-03-042010-03-042013-01-102010-03-052013-01-112010-042011-102011-10trueThis protocol will exploit novel state of the art cardiovascular magnetic resonance techniques to examine important changes in the heart in children with muscular dystrophy. The purpose of this study is to compare cardiac magnetic resonance (CMR) with the collected cardiac outcome data obtained in protocol: PITT1109 - Cardiac Outcome Measures in Children with Muscular Dystrophy.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Limb Girdle Muscular Dystrophy20False818FalseFalseFalseFalse NCT0393689410234Children's National Research InstituteOTHERSingle Escalating Dose Pilot Trial of Canakinumab (ILARIS®) in Duchenne Muscular Dystrophy2023-09ACTIVE_NOT_RECRUITINGCanakinumab is an anti-interleukin 1 beta (IL1β) antibody approved for use in young children with familial Mediterranean fever, systemic onset juvenile idiopathic arthritis and TNF-receptor associated periodic fever syndrome. This study is a pilot trial to investigate the effects of canakinumab on clinical safety and potential clinical efficacy as demonstrated by short-term changes in select serum biomarkers in a sample of young boys with DMD who are most likely to have high levels of muscle inflammation. Steroid naive DMD subjects aged greater than or equal to 2 years old to less than 6 years old will receive a single subcutaneous dose of canakinumab and undergo safety and serum biomarker monitoring for 30 days. The first 3 subjects will receive 2 mg/kg and if well tolerated, the second 3 subjects will receive 4 mg/kg.INTERVENTIONALInclusion Criteria: * Subject's parent or legal guardian has provided written informed consent/HIPAA authorization prior to any study-related procedure * Subject has a diagnosis of DMD * Subject is ≥ 2 years of age at time of enrollment in the study * Subject is naïve to treatment with glucocorticoids for DMD * Subject is ambulatory * Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant (includes less than 5x normal for AST and ALT), in the opinion of the Investigator. TB serology is negative. * Subject and parent/guardian are willing and able to comply with, drug administration plan, and follow up visits. Exclusion Criteria: * Subject is \<2 years of age * Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; * Subject has current or history of chronic systemic fungal or viral infections; * Subject has had an acute illness within 4 weeks prior to the first dose of study medication; * Subject received live vaccination within the previous month * Subject has evidence of symptomatic cardiomyopathy \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; * Subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for indication other than DMD for no longer than 3 months cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis. Inhaled and/or topical glucocorticoids prescribed for an indication other than DMD are permitted but must be administered at stable dose for at least 3 months prior to study drug administration\]; * Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; * Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the start of study treatment; Note: Any parameter/test may be repeated at the Investigator's discretion during Screening to determine reproducibility. In addition, subjects may be rescreened if ineligible due to a transient condition which would prevent the subject from participating, such as an upper respiratory tract infection or injury.MALE2024-10-18T00:00:002019-04-292019-05-012023-09-192019-05-032023-09-212019-05-012024-042024-04trueTrueFalseCanakinumab is an anti-interleukin 1 beta (IL1β) antibody approved for use in young children with familial Mediterranean fever, systemic onset juvenile idiopathic arthritis and TNF-receptor associated periodic fever syndrome. This study is a pilot trial to investigate the effects of canakinumab on clinical safety and potential clinical efficacy as demonstrated by short-term changes in select serum biomarkers in a sample of young boys with DMD who are most likely to have high levels of muscle inflammation. Steroid naive DMD subjects aged greater than or equal to 2 years old to less than 6 years old will receive a single subcutaneous dose of canakinumab and undergo safety and serum biomarker monitoring for 30 days. The first 3 subjects will receive 2 mg/kg and if well tolerated, the second 3 subjects will receive 4 mg/kg.Duchenne Muscular DystrophyPHASE1PHASE23Clinical adverse eventsMonitor for changes in health status related to medication use2 weeksLaboratory adverse eventsMonitor for changes in laboratory results related to medication use2 weeksClinical adverse eventsMonitor for changes in health status related to medication use4 weeksLaboratory adverse eventsMonitor for changes in laboratory results related to medication use4 weeksChanges in serum biomarkers of inflammation after treatmentMonitor serum biomarker changes associated with anti-inflammatory properties including CD23, Protein C, CCL22, lymphotoxin a1/b1, CD49a, Ly9 and MMP-9, 12 and compare to baseline levels to demonstrate increase or decrease in biomarker levels2 weeksChanges in serum biomarkers of inflammation after treatmentMonitor serum biomarker changes associated with anti-inflammatory properties including CD23, Protein C, CCL22, lymphotoxin a1/b1, CD49a, Ly9 and MMP-9, 12 and compare to baseline levels to demonstrate increase or decrease in biomarker levels4 weeksFalse2FalseFalseFalseFalse NCT06565208SAT-3247-CL-101Satellos Bioscience, Inc.INDUSTRYFirst in Human SAD/MAD Safety and PK Study With Adult DMD Safety and PK Cohort2024-09RECRUITINGThis is a first-in-human (FIH), Phase 1 study of orally administered SAT-3247 in healthy adult volunteers (HVs) and adult participants with DMD to determine safety, tolerability, pharmacokinetics and pharmacodynamics.INTERVENTIONALParts A-C enroll healthy volunteers; only entry criteria for Part D are described below. Part D Inclusion Criteria: * Able and willing to provide written informed consent after the nature of the study has been explained and prior to the commencement of any study procedures. * Considered reliable and capable of adhering to the protocol and able and willing to attend the necessary visits to the study site according to the judgment of the PI or designee. * Male patients ≥18 to ≤ 40 years (inclusive at the time of informed consent), or considered an adult able to consent to participate in a clinical study in the jurisdiction in which the study is being conducted. * Non-smoker and must not have used any tobacco or cannabis products within 2 months prior to Screening. * Has a definitive diagnosis of DMD based on documented clinical findings and prior genetic testing with a confirmed mutation in the DMD gene. * BMI ≥ 18.0 kg/m2 and ≤ 32.0 kg/m2 and weight ≥ 50 kg at Screening. * Stable dose of systemic glucocorticosteroids, heart medications, and/or other supportive medications, vitamins and supplements according to the standard of care for DMD for 3 months prior to the Screening visit and for the duration of the study. Participants that are not receiving glucocorticosteroids are also eligible, but must refrain from initiating glucocorticosteroid treatment for the duration of the trial. * Agree to abstain from donating blood or blood products during the study and for up to 3 months after the administration of the IP. Part D Exclusion Criteria: * Underlying psychological condition or history of any mental illness that, in the opinion of the PI or designee, would make it unlikely for the participant to comply with the protocol or complete the study per protocol. * Presence of acute or chronic illness or history of chronic illness sufficient to invalidate the patient's participation in the study or make it unnecessarily hazardous in the judgment of the PI. * Any clinically significant medical, surgical, or psychiatric abnormality that, in the judgment of the Investigator, is likely to interfere with study compliance, the safe participation of the subject or the assessment of safety or efficacy. * Any surgical procedures (eg, stomach bypass) or medical condition that might affect absorption of medicines. * Has donated blood within 60 days of IP administration or donated plasma within 7 days of IP administration or experienced loss of blood ≥500 mL within 2 months of IP administration. * Fever (body temperature \>38°C) or symptomatic viral or bacterial infection within 2 weeks prior to Screening. * Poor pill swallowing ability as determined by PI. * Presence or history of severe allergic or anaphylactic reactions, or sensitivity to the IP or its constituents. * History of relevant atopy including any confirmed significant allergic reactions against any drug, or multiple drug allergies (non-active hay fever is acceptable). * History of malignancy, except for non-melanoma skin cancer excised more than 2 years prior to Screening and cervical intraepithelial neoplasia that has been successfully cured more than 5 years prior to Screening. * Abnormal ECG findings at Screening and or Day -1 that are considered by the PI or designee to be clinically significant. * QT value, measured at Screening visit, greater than 450 msecs (male) on 12-lead ECG, using Fridericia's formula (QTcF) for correction. * Pulse ≤ 45 or ≥ 100 beats per minute (bpm); systolic blood pressure ≤ 90 mmHg or ≥ 160 mmHg, or diastolic blood pressure ≤ 50 mmHg or \> 95 mmHg at Screening. * History or presence of a condition associated with significant immunosuppression. * History of life-threatening infection (eg, meningitis). * Infections requiring parenteral antibiotics within 6 months prior to Screening. * Positive test for hepatitis C antibody (HCV), hepatitis B surface antigen (HBsAg), human immunodeficiency virus (HIV) antibody. * Vaccination with a vaccine within 28 days prior to the first administration of IP. * Creatine kinase \> ULN or ALP, AST, bilirubin, and/or ALT \>1.5 × ULN at Screening. * Anticipated change to prescription medication, over the counter medications, vitamins, supplements, and/or herbal remedies during the course of the trial. * Anything that the PI or designee considers would jeopardize the safety of the participant, prevent complete participation in the study (including the possibility that the participant will not cooperate with the requirements of the protocol) or compromise interpretation of the study data. * An employee, consultant, and/or immediate family member (ie, first degree relative, spouse, adoptees, or legal dependents) of the site, Sponsor, or the CRO.MALE2024-10-18T00:00:002024-08-192024-08-192024-09-262024-08-212024-09-272024-08-212025-032025-03falseFalseFalseThis is a first-in-human (FIH), Phase 1 study of orally administered SAT-3247 in healthy adult volunteers (HVs) and adult participants with DMD to determine safety, tolerability, pharmacokinetics and pharmacodynamics.Duchenne Muscular DystrophyEARLY_PHASE182Incidence and severity of treatment emergent adverse eventsSafety and tolerability of SAT-3247 as compared to placeboPart A: Day 1-3; Part B: Day 1-8; Part C: Day 1-3; Part D: Day 1-28Serum plasma Pharmacokinetics of SAT-3247Plasma PK parameters including Cmax, Tmax, AUC, terminal half-life, CL/F, Vz/F, and ratios of Cmax and AUCPart A: Day 1-3; Part B: Day 1-8; Part C: Day 1-3; Part D: Day 1-28True1840FalseFalseFalseFalse NCT06241950SRP-9001-104Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Imlifidase Infusion in Participants With Duchenne Muscular Dystrophy (DMD) Determined to Have Pre-existing Antibodies to Recombinant Adeno-Associated Virus Serotype (rAAVrh74)2024-08ENROLLING_BY_INVITATIONThis is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing antibodies to rAAVrh74 over a period of 104 weeks.INTERVENTIONALInclusion Criteria: * Ambulatory per protocol specified criteria. * Has a definitive diagnosis of DMD prior to Screening based on documentation of clinical findings and confirmatory genetic testing. * Ability to cooperate with motor assessment testing. * Has elevated rAAVrh74 antibody titers per protocol-specified requirements. * A pathogenic frameshift mutation, nonsense mutation or premature stop codon or pathogenic variant in the DMD gene that is expected to lead to absence of dystrophin protein. * Stable daily dose of oral corticosteroids for at least 12 weeks prior to Screening, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight). Exclusion Criteria: * Previous treatment with imlifidase. * Presence of any other clinically significant illness, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for receiving the study drugs or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability. * Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. Note: Other inclusion or exclusion criteria could apply.MALE2024-10-18T00:00:002024-01-262024-01-262024-08-122024-02-052024-08-132024-01-292025-01-312026-09-30trueTrueFalseThis is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing antibodies to rAAVrh74 over a period of 104 weeks.Duchenne Muscular DystrophyPHASE16Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression as Measured by Western Blot Adjusted by Muscle ContentBaseline, Week 12Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by Immunofluorescence (IF) Fiber IntensityBaseline, Week 12Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by IF Percent Dystrophin-positive Fibers (PDPF)Baseline, Week 12Mean Concentration of Vector Genome Copies Using Polymerase Chain Reaction in Muscle Tissue Biopsy, After Delandistrogene Moxeparvovec AdministrationWeek 12Maximum Observed Plasma Concentration (Cmax) of ImlifidaseUp to Day 7Total IgG in Serum After Imlifidase AdministrationUp to Week 12rAAVrh74 Antibody Titers After Imlifidase AdministrationUp to Hour 120Concentration of Vector Genome Copies Using Polymerase Chain Reaction in Serum, After Delandistrogene Moxeparvovec AdministrationUp to Day 7Number of Participants with a Treatment Emergent Adverse Event (TEAE), Adverse Event of Special Interest (AESI), and Serious Adverse Event (SAE)Up to Week 104False49TrueFalseFalseFalse NCT00759876PTC124-GD-004e-DMDPTC TherapeuticsINDUSTRYPhase 2a Extension Study of Ataluren (PTC124) in Duchenne Muscular Dystrophy (DMD)2020-09TERMINATEDDuchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DMD in approximately 10-15% of boys with the disease. Ataluren is an orally-delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a extension trial that will evaluate the long-term safety of ataluren in boys with nonsense mutation DMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, strength, and other important clinical and laboratory measures.INTERVENTIONALInclusion Criteria: * Completion of ataluren treatment in the previous Phase 2a study (Protocol PTC124-GD-004-DMD). * Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \<18 years of age). * Confirmed screening laboratory values within the central laboratory ranges. * In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 6-week follow up period. * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: * Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment. * Treatment with warfarin within 1 month prior to start of study treatment. * Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], and magnesium stearate). * Exposure to another investigational drug within 2 months prior to start of study treatment. * History of major surgical procedure within 1 month prior to start of study treatment. * Ongoing immunosuppressive therapy (other than corticosteroids). * Ongoing participation in any other clinical trial (except for sub-studies specifically approved by PTC Therapeutics). * Clinically significant symptoms and signs of congestive heart failure (CHF) (American College of Cardiology/American Heart Association Stage C or Stage D). * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram findings, or laboratory abnormality that, in the Investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002008-09-232008-09-232020-10-022008-09-252020-10-292008-08-132010-05-172010-05-17falseDuchenne muscular dystrophy (DMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DMD in approximately 10-15% of boys with the disease. Ataluren is an orally-delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a extension trial that will evaluate the long-term safety of ataluren in boys with nonsense mutation DMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, strength, and other important clinical and laboratory measures.Duchenne Muscular DystrophyPHASE236Number of Participants With Treatment Emergent Adverse Events (TEAEs)TEAE: any untoward medical occurrence or undesirable event(s) that begins or worsens following administration of the study drug, whether or not considered related to the treatment by the Investigator. Severity of an adverse event (AE) was classified as: mild (does not interfere with usual function), moderate (interferes with usual function; may require medical intervention), severe (interferes significantly with usual function; likely require medical intervention), life-threatening, and fatal. Drug-related AEs: AEs with a possible or probable relationship to study drug. Serious AEs: death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized participant and required medical intervention. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.Baseline up to Week 89Change From Baseline in 6-Minute Walk Distance (6MWD) as Measured by the 6-minute Walk Test (6MWT)The 6MWD was assessed in participants who were ambulatory using standardized procedures. Participants were not permitted to use assistive devices during the 6MWD test. Only the results of the participant's best valid test at each visit were included in the analysis. The mean change from baseline in the distance the participant walked is reported.Baseline, Week 48 and Week 60Change From Baseline in Proximal Muscle Function as Assessed by Speed During Timed Function TestsTimed function tests included time to stand from supine position (rise to standing), time to run/walk 10 meters (m), and time to ascend/descend 4 stairs. Timed function tests were assessed in ambulatory participants. A decrease from baseline reflects faster completion of the functional task and, thus, better muscle function. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression (PD), a value of 30 seconds was used. Test results were set to missing in the analysis for participants who could not perform the tests for reasons other than PD (for example, bone fracture).Baseline, Week 48 and Week 60Change From Baseline in Standing From Supine Position as Assessed by Method Scores During Timed Function TestsTimed test evaluations included scoring of method that ambulatory participants used to complete test. Scale for method used for standing from supine position: 1) Unable to stand from supine, even with use of a chair. 2) Assisted Gowers, requires furniture to rise from supine to full upright posture. 3) Full Gowers, rolls over, stands with both hands "climbing up" legs to above knees to achieve full upright posture. 4) Half Gowers, rolls over, stands up with 1 hand support on lower legs. 5) Rolls to side and/or stands with 1 or both hands on floor to start to rise but does not touch legs. 6) Stands without rolling over or using hands. Increases from baseline are indicative of improving ability to perform functional task. If a participant could not perform a timed function test because of PD, a method value of "1" was assigned in analysis. Test results set to missing in analysis for participants who could not perform tests for reasons other than PD (for example, bone fracture).Baseline, Week 48 and Week 60Change From Baseline in Run/Walk 10-Meters as Assessed by Method Scores During Timed Function TestsTimed test evaluations included scoring of method that ambulatory participants used to complete test. Scale for method used to run/walk 10-meters: 1) Unable to walk independently. 2) Unable to walk independently but can walk with knee-ankle-foot orthoses (KAFOs) or with support from a person 3) Highly adapted, wide-based lordotic gait, cannot increase walking speed. 4) Moderately adapted gait, can pick up speed but cannot run. 5) Able to pick up speed but runs with a double stance phase (that is, cannot achieve both feet off the ground). 6) Runs and gets both feet off the ground (with no double-stance phase). At the visit, if a participant could not perform a timed function test because of PD, a method value of "1" was assigned in analysis. Test results set to missing in analysis for participants who could not perform tests for reasons other than PD (for example, bone fracture).Baseline, Week 48 and Week 60Change From Baseline in Ascending 4 Stairs as Assessed by Method Scores During Timed Function TestsTimed test evaluations included scoring of method that ambulatory participants used to complete test. Scale for method used to ascend 4 stairs: 1) Unable to climb 4 standard stairs. 2) Climbs 4 standard stairs "marking time" (climbs 1 foot at a time, with both feet on a step before moving to next step), using both arms on 1 or both handrails. 3) Climbs 4 standard stairs "marking time" using 1 arm on 1 handrail. 4) Climbs 4 standard stairs "marking time" not needing handrail. 5) Climbs 4 standard stairs alternating feet, needs handrail for support. 6) Climbs 4 standard stairs alternating feet, not needing handrail support. At the visit, if a participant could not perform a timed function test because of PD, a method value of "1" was assigned in analysis. Test results set to missing in analysis for participants who could not perform tests for reasons other than PD (for example, bone fracture).Baseline, Week 48 and Week 60Change From Baseline in Descending 4 Stairs as Assessed by Method Scores During Timed Function TestsTimed test evaluations included scoring of method that ambulatory participants used to complete test. Scale for method used to descend 4 stairs: 1) Unable to descend 4 standard stairs. 2) Descends 4 standard stairs "marking time" (climbs 1 foot at a time, with both feet on a step before moving to next step), using both arms on 1 or both handrails. 3) Descends 4 standard stairs "marking time", using 1 arm on 1 handrail. 4) Descends 4 standard stairs "marking time", not needing handrail. 5) Descends 4 standard stairs alternating feet in both directions, needs handrail for support. 6) Descends 4 standard stairs alternating feet, not needing handrail support. At the visit, if a participant could not perform a timed function test because of PD, a method value of "1" was assigned in analysis. Test results set to missing in analysis for participants who could not perform tests for reasons other than PD (for example, bone fracture).Baseline, Week 48 and Week 60Change From Baseline in Force Exerted During Knee Flexion and Extension, Elbow Flexion and Extension, Shoulder Abduction, and Hand Grip as Assessed by MyometryUpper extremity myometry was performed using a hand-held dynamometer following standardized procedures. With this system, evaluators judged the strength of each muscle using an 11-point descriptive scoring system. From the individual muscle-group scores, a total composite score was derived. Bilateral assessments were done, and 3 measurements were recorded from each muscle group on each side, when possible. The best of the 3 replicates was used in the analysis. An increase from Baseline is reflective of increased muscle strength, whereas a decrease from Baseline is reflective of decreased muscle strength. Participants who became unable to perform a myometry test because of disease progression were assigned a value of 0 for each visit at which the participant was no longer able to perform the test. Test results were set to missing in the analysis for participants who could not perform the tests for reasons other than disease progression (for example, bone fracture).Baseline, Week (Wk) 48 and Wk 60Change in Resting, Active, and Recovery Heart Rate as Assessed by Heart Rate Monitoring With the Polar RS400Heart rate was measured with a Polar RS400 heart rate monitor, which consists of a transmitter strap worn around the chest and a wristwatch receiver. The monitor produces a digital text file with 1 value per minute that represents the mean heart rate for that minute. Mean heart rate values were collected before, during, and after the 6MWT. The participant rested for 5 minutes in a sitting position before the 6MWT, and the mean heart rate for the last minute of this rest period was obtained and documented as the resting heart rate. During the 6MWT, the mean heart rate was collected and documented as the active heart rate. After completing the 6MWT and resting for 3 minutes, the mean heart rate for 1 minute was obtained and documented as the recovery heart rate.Baseline, Week 48 and Week 60Change From Baseline in Verbal Memory and Attention as Assessed by the Digit Span TaskThe digit span task is a 2-part (forward and backward) test in which a series of digits (3 to 9) were presented to participant in an auditory format only. For forward condition, the participant was to repeat digits back in the order they were presented. For backward condition, the participant was to reverse the order of presentation. Maximum score for each part (digit forward and digit backward) of task is 14; participants received a score of 2 points if they passed both trials, score of 1 point if they passed only 1 trial, and score of 0 points if they failed both trials. A raw score of total number of correct forward and backward responses was age-normalized by subtracting corresponding mean and dividing by corresponding standard deviation of a reference population for that age. For each forward and backward result, the resulting Z score was transformed into percentile rank of normal distribution. Change from Baseline in number of digits recalled forward and backward is reported.Baseline, Week 48 and Week 60Change From Baseline in Participant-Reported Health-Related Quality of Life (HRQL) as Measured by the Pediatric Quality of Life Inventory (PedsQL) InventoryThe PedsQL Generic Core Scales comprises 23 questions, which are grouped into 4 scales (physical functioning, emotional functioning, social functioning, and school functioning); the fatigue-specific module included an additional 18 questions. The appropriate age-specific version was completed. On PedsQL Generic Core Scales, items were reversed scored and linearly transformed to a 0 to 100 scale so that higher scores indicate a better HRQL (0=100, 1=75, 2=50, 3=25, and 4=0). Mean is the sum of the items over the number of items that were answered (which accounts for missing data) to create scale scores. If \>50% of the items in a scale were missing, the scale score was not computed. Mean Total Scale Score is the sum of all of the items over the number of items that were answered on all scales.Baseline, Week 48 and Week 60Change From Baseline in Parent- or Caregiver-Reported HRQL as Measured by the PedsQL InventoryThe PedsQL Generic Core Scales comprises 23 questions, which are grouped into 4 scales (physical functioning, emotional functioning, social functioning, and school functioning); the fatigue-specific module included an additional 18 questions. The appropriate age-specific version was completed. On PedsQL Generic Core Scales, items were reversed scored and linearly transformed to a 0 to 100 scale so that higher scores indicate a better HRQL (0=100, 1=75, 2=50, 3=25, and 4=0). Mean is the sum of the items over the number of items that were answered (which accounts for missing data) to create scale scores. If \>50% of the items in a scale were missing, the scale score was not computed. Mean Fatigue Scale Score is the sum of the items over the number of items that were answered in the Emotional, Social, and School Functioning Scales. Mean Total Scale Score is the sum of all of the items over the number of items that were answered on all scales.Baseline, Week 48 and Week 60Change From Baseline in Serum Creatine Kinase (CK) LevelsSerum CK concentrations (as measured by the central laboratory) were quantified from the blood samples that were collected as part of the safety laboratory evaluations. The normal range for CK is 18 to 363 units/liter (U/L).Baseline, Week 48 and Week 60Change From Baseline in Dystrophin Expression on Biceps Muscle Biopsy as Measured by Immunofluorescence Staining of the Sarcolemmal Membrane With an Antibody to the C-Terminal Portion of the Dystrophin ProteinThe biceps muscle was biopsied from 1 arm for confirmation of the absence or low levels of dystrophin prior to treatment initiation and from the other arm to assess for production of dystrophin post-treatment. Muscle tissue sections were processed and immunostained to detect muscle membrane-localized dystrophin. An increase in value indicates dystrophin production.Baseline, Week 24Study Drug ComplianceStudy drug compliance was assessed by the participant daily diary and quantification of used and unused study drug. Compliance was assessed in terms of the amount of drug actually taken relative to the amount that was prescribed. Physician-prescribed dose reductions and interruptions were factored into the calculations. "Not recorded" applies only to the days on which all dosing information was missing or for missing days. Invalid entries in the participant daily diary were assigned values of 0.0 for percentage of doses taken and 99.0 for percentage of doses not recorded.Baseline up to Week 89Pharmacokinetics: Ataluren Plasma Exposure in All ParticipantsBlood for ataluren concentrations over a 24-hour period was to be collected on Day 2 of Week 1 and Day 2 of Week 6. Analysis of the blood samples was to be conducted using a validated high-performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) method with a lower limit of quantitation (LLOQ) of 0.5 micrograms/milliliters (μg/mL). Plasma concentrations below qualification (BQ) is treated as 0 in the summary calculation.0 (pre-dose), 0.5, 1, 2, 3, and 4 hours post-morning dose and 0 (pre-dose) and 2 hours post-midday dose on Day 2 of Week 1 and Day 2 of Week 6Pharmacokinetics: Ataluren Plasma Exposure in Ambulatory ParticipantsBlood for ataluren concentrations were collected on Day 2 of Week 1 and Day 2 of Week 6. Analysis of the blood samples was to be conducted using a validated HPLC-MS/MS method with a LLOQ of 0.5 μg/mL. Plasma concentrations BQ is treated as 0 in the summary calculation.0 (pre-dose), 0.5, 1, 2, 3, and 4 hours post-morning dose and 0 (pre-dose) and 2 hours post-midday dose on Day 2 of Week 1 and Day 2 of Week 6Corticosteroid Plasma Concentrations as Assessed by a Validated Bioanalytical Method, in Participants Who Received a Daily Corticosteroid Regimen With Prednisone or DeflazacortBlood for prednisone and deflazacort concentrations were collected on Day 2 of Week 1 and Day 2 of Week 6. Plasma samples for the determination of prednisone concentrations were analyzed using a validated HPLC/MS/MS method, with LLOQs of 1.00 nanograms/milliliters (ng/mL). Prednisone concentrations \<1.01 are treated as 1.01 in the summary calculation. Plasma samples for the determination of 21-desacetyl deflazacort concentrations were analyzed using a validated HPLC/MS/MS method with an LLOQ of 1.0 ng/mL. Deflazacort concentrations BQ are treated as 0 in the summary calculation.0 (pre-dose), 0.5, 1, 2, 3, and 4 hours post-morning dose and 0 (pre-dose) and 2 hours post-midday dose on Day 2 of Week 1 and Day 2 of Week 6Change in Muscle Composition as Assessed by Limb Magnetic Resonance (MR) TestingThis Outcome Measure is an exploratory study objective and data were not collected or analyzed for this extension study.Baseline, Week 48, Week 60FalseTrueFalseTrueFalse NCT03552874GO 16/773Hacettepe UniversityOTHERPulmonary and Upper Limb Functions in Duchenne Muscular Dystrophy2018-06COMPLETEDAlthough it is known that the functions of pulmonary and upper limb is affected in late stage of Duchenne Muscular Dystrophy (DMD) negatively, the investigators do not have clear information about its early stage. The aim of this study was to investigate the differences in pulmonary and upper limb functions between children with DMD in early stage and healthy peers.OBSERVATIONALInclusion Criteria: children with DMD was; * age between 5-10 years * being on treatment with corticosteroids for more than 6 months * being at Level I according to Brooke Upper and Lower Extremity Classification Systems Healthy peers; * age between 5-10 years * not having any diagnosed disease Exclusion Criteria: • Children has undergo surgery and disease affect upper extremity or pulmonary function in last six months.MALE2024-10-18T00:00:002018-05-252018-06-102018-06-102018-06-122018-06-122017-01-012017-07-312018-03-31FalseFalseAlthough it is known that the functions of pulmonary and upper limb is affected in late stage of Duchenne Muscular Dystrophy (DMD) negatively, the investigators do not have clear information about its early stage. The aim of this study was to investigate the differences in pulmonary and upper limb functions between children with DMD in early stage and healthy peers.Duchenne Muscular Dystrophy;Upper Limb Function;Respiratory Function Test47Pulmonary Function Test (PFT)The pulmonary function tests of the participants were evaluated with a spirometry. The child was asked to perform the spirometric tests for three times with maximum effort. The child was motivated before each attempt for stronger and longer expiration.The result of Pulmonary function Test were recorded.5 minutesThe Performance Upper Limb (PUL)Upper limb functions of participants were evaluated with The Performance of Upper Limb (PUL) scale. This scale, which was shown to be reliable in DMD, has 22 items in total. It consists of 3 different levels of function: high, mid, and distal. PUL also has four items determining timed performance.15 minutesTrue510TrueFalseFalseFalse NCT00005574000083National Institutes of Health Clinical Center (CC)NIHGentamicin Treatment of Muscular Dystrophy2000-01COMPLETEDThis study will evaluate the antibiotic gentamicin for treating patients with muscular dystrophy caused by a specific genetic abnormality known as a nonsense mutation. In studies of mice with this type of muscular dystrophy, gentamicin treatment produced positive changes in muscle tissue. Patients with Duchenne or Becker muscular dystrophy caused by nonsense mutations by may be eligible for this 2-week study. Before starting treatment, patients will have evaluations of muscle strength and general well being. Two muscle tissue samples will be taken by needle biopsy, under local anesthetic and sedation. Because of potential risks of hearing loss and kidney toxicity associated with gentamicin, patients will also have a hearing test and blood and urine tests for kidney function before starting treatment. (Currently, gentamicin is commonly prescribed for serious infections of the lungs, heart, and digestive and urinary tracts; adverse effects of hearing loss and kidney toxicity can occur with excessively high drug doses.) Patients will be hospitalized during drug treatment. Gentamicin will be given intravenously (through a vein) once a day for 14 days. Blood samples will be collected daily to monitor drug levels and determine dosage adjustments, if necessary. Urine samples will be collected to assess kidney function. Hearing tests will be done on days 7 and 10. On the last day of the study, hearing, kidney function, and muscle strength will be tested and the results compared with pre-treatment levels. Blood and muscle samples will also be taken again for pre-treatment comparison. Hearing, blood, urine, and muscle strength tests will be repeated one month after treatment ends for comparison with previous results.INTERVENTIONALDiagnosis of DMD or Becker muscular dystrophy with confirmed dystrophin nonsense mutation. Measurable limb or pulmonary weakness. Signed consent. Must not have a history of hypersensitivity reaction to an aminoglycoside. Must not have abnormal baseline hearing. Must not have abnormal baseline kidney function or serum creatinine level. Must not be currently enrolled in another clinical trial. Must not have recent (within past 3 months) initiation of prednisone or creatinine therapy. Must not have a history of significant concomitant illness. Must not have concomitant use of aminoglycoside or other nephrotoxic agent.ALL2024-10-18T00:00:002000-05-022002-12-092008-03-032002-12-102008-03-042000-022001-01This study will evaluate the antibiotic gentamicin for treating patients with muscular dystrophy caused by a specific genetic abnormality known as a nonsense mutation. In studies of mice with this type of muscular dystrophy, gentamicin treatment produced positive changes in muscle tissue. Patients with Duchenne or Becker muscular dystrophy caused by nonsense mutations by may be eligible for this 2-week study. Before starting treatment, patients will have evaluations of muscle strength and general well being. Two muscle tissue samples will be taken by needle biopsy, under local anesthetic and sedation. Because of potential risks of hearing loss and kidney toxicity associated with gentamicin, patients will also have a hearing test and blood and urine tests for kidney function before starting treatment. (Currently, gentamicin is commonly prescribed for serious infections of the lungs, heart, and digestive and urinary tracts; adverse effects of hearing loss and kidney toxicity can occur with excessively high drug doses.) Patients will be hospitalized during drug treatment. Gentamicin will be given intravenously (through a vein) once a day for 14 days. Blood samples will be collected daily to monitor drug levels and determine dosage adjustments, if necessary. Urine samples will be collected to assess kidney function. Hearing tests will be done on days 7 and 10. On the last day of the study, hearing, kidney function, and muscle strength will be tested and the results compared with pre-treatment levels. Blood and muscle samples will also be taken again for pre-treatment comparison. Hearing, blood, urine, and muscle strength tests will be repeated one month after treatment ends for comparison with previous results.Becker Muscular Dystrophy;Duchenne Muscular DystrophyPHASE14FalseTrueFalseFalseFalse NCT02310763B5161002PfizerINDUSTRYA Phase 2 Study to Evaluate the Safety, Efficacy, Pharmacokinetics and Pharmacodynamics of PF-06252616 in Duchenne Muscular Dystrophy2020-10TERMINATEDThis is a Phase 2 randomized, 2-period, double-blind, placebo-controlled, multiple ascending dose study to evaluate the safety, efficacy, PK and PD of PF-06252616 administered to ambulatory boys diagnosed with Duchenne Muscular Dystrophy. Three intravenous (IV) dose levels will be investigated in a within subject dose escalating fashion. Subjects will be randomly assigned to 1 of 3 sequence groups for approximately 96 weeks (2 periods of 48 weeks each). In period 1, two of the sequence groups will receive PF-06252616 and one sequence group will receive placebo. In period 2, the placebo group will switch to PF-06252616 and the two remaining sequence groups will either receive placebo or PF-06252616. Efficacy will be based on an observed mean change from baseline on function (4 stair climb) of PF-06252616 as compared to the placebo at the end of period 1. Period 2 provides an opportunity to evaluate PK. Subjects will receive monthly IV infused doses of either PF-06252616 or placebo and will undergo safety evaluations (Laboratory, cardiac monitoring, physical exams, x-ray, MRI), functional evaluations (pulmonary function testing, 4 stair climb, range of motion, strength testing, Northstar Ambulatory Assessment, upper limb functional testing and the six minute walk test), pharmacokinetic testing and pharmacodynamic testing to evaluate changes in muscle volume (MRI).INTERVENTIONALInclusion Criteria: 1. Ambulatory boys age 6 to \<16 years old (at the time of randomization), diagnosed with DMD. Diagnosis must be confirmed in subject's medical history and by genetic testing obtained during routine clinical care for diagnostic purposes as reported from an appropriate regulated laboratory using a clinically validated genetic test (genetic testing is not provided by the sponsor). 2. Subjects who are able to perform the 4 stair climb in \> or = 0.33 but \< or =1.6 stairs/second. 3. Subjects must be receiving glucocorticosteroids for a minimum of 6 months prior to signing informed consent. There should be no significant change (\>0.2 mg/kg) in dosage or dose regimen (not related to body weight change) for at least 3 months immediately prior to signing the informed consent and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study. 4. Adequate hepatic and renal function on screening laboratory assessments. 5. No underlying disposition for iron accumulation on screening laboratory assessments. 6. Iron content estimate on the screening liver MRI is within the normal range. Exclusion Criteria: 1. Subjects with known cognitive impairment or behavioral issues that would impede the ability to follow instructions. 2. History of major surgical procedure within 6 weeks of signing the informed consent or planned surgery during the study. 3. Any injury which may impact functional testing. Previous injuries must be fully healed prior to consenting. Prior lower limb fractures must be fully healed and at least 3 months from injury date. 4. Presence or history of other musculoskeletal or neurologic disease or somatic disorder not related to DMD including pulmonary and cardiac disease. 5. Compromised cardiac function (left ventricular ejection fraction \<55% as determined on a screening cardiac MRI or echocardiogram). Subjects may be receiving ACE (angiotensin converting enzyme) inhibitors or beta blockers, ARB (angiotensin II receptor antagonist) or aldosterone blocker/thiazide diuretic; however they must have initiated treatment more than 3 months prior to screening to ensure stable therapy. 6. Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular (including uncontrolled hypertension), hepatic, neurologic, or allergic disease (including drug allergies, but excluding untreated, asymptomatic, seasonal allergies at time of dosing). 7. Documented history of iron overload including hemochromatosis, beta thalassemia major, beta thalassemia intermedia or hemolytic anemia. 8. Unwilling or unable (eg, metal implants, requires sedation) to undergo examination with closed MRI without sedation. 9. Participation in other studies involving investigational drug(s) for a minimum of 30 days or within 5 half lives (whichever is longer) prior to signing the informed consent and/or during study participation. 10. Current or prior treatment with anti-myostatin, exon skipping, nonsense mutation targeted therapies ever or more than 30 days of treatment with utrophin modifiers and treatment with utrophin modifiers within 30 days prior ot signing the informed consent and/or during study participation. 11. Current or prior treatment within the past 3 months with androgens or human growth hormone. 12. Current treatment with immunosuppressant therapies (other than glucocorticoid steroids), aminoglycosides (eg, gentamicin), multi vitamins with iron and iron supplements and other investigational therapies (including idebenone).MALE2024-10-18T00:00:002014-11-042014-12-042020-11-112014-12-082020-12-072014-11-242018-04-302018-11-23trueTrueFalseThis is a Phase 2 randomized, 2-period, double-blind, placebo-controlled, multiple ascending dose study to evaluate the safety, efficacy, PK and PD of PF-06252616 administered to ambulatory boys diagnosed with Duchenne Muscular Dystrophy. Three intravenous (IV) dose levels will be investigated in a within subject dose escalating fashion. Subjects will be randomly assigned to 1 of 3 sequence groups for approximately 96 weeks (2 periods of 48 weeks each). In period 1, two of the sequence groups will receive PF-06252616 and one sequence group will receive placebo. In period 2, the placebo group will switch to PF-06252616 and the two remaining sequence groups will either receive placebo or PF-06252616. Efficacy will be based on an observed mean change from baseline on function (4 stair climb) of PF-06252616 as compared to the placebo at the end of period 1. Period 2 provides an opportunity to evaluate PK. Subjects will receive monthly IV infused doses of either PF-06252616 or placebo and will undergo safety evaluations (Laboratory, cardiac monitoring, physical exams, x-ray, MRI), functional evaluations (pulmonary function testing, 4 stair climb, range of motion, strength testing, Northstar Ambulatory Assessment, upper limb functional testing and the six minute walk test), pharmacokinetic testing and pharmacodynamic testing to evaluate changes in muscle volume (MRI).Duchenne Muscular DystrophyPHASE2121Number of Participants With Treatment-emergent Adverse Events (TEAEs) by Week 49An adverse event (AE) was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment. A serious adverse event (SAE) was any untoward medical occurrence at any dose that resulted in death; was life threatening; required inpatient hospitalization or prolongation of existing hospitalization; resulted in persistent or significant disability/incapacity; resulted in congenital anomaly/birth defect. AEs included both SAEs and AEs. TEAEs were AEs occurred following the start of treatment or AEs increasing in severity during treatment. Severe TEAEs were TEAEs that interfered significantly with participants' usual function. Treatment-related TEAEs were determined by the investigator.Study Day 1 to Week 49 visitNumber of Participants Who Discontinued From the Study Due to TEAEs by Week 49An AE was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment. TEAEs were AEs occurred following the start of treatment or AEs increasing in severity during treatment. Treatment-related TEAEs were determined by the investigator.Study Day 1 to Week 49 visitNumber of Participants With Dose Reduced or Temporary Discontinuation Due to TEAEs by Week 49An AE was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment. TEAEs were AEs occurred following the start of treatment or AEs increasing in severity during treatment. Treatment-related TEAEs were determined by the investigator.Study Day 1 to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - HematologyHematology evaluation included: hemoglobin, hematocrit, red blood cell (RBC) count, platelets, RBC morphology, white blood cell (WBC) count, absolute lymphocytes, absolute atypical lymphocytes, absolute total neutrophils, absolute total neutrophils count, absolute band cells, absolute basophils, absolute eosinophils, absolute monocytes and absolute myelocytes.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - CoagulationCoagulation evaluation included activated partial thromboplastin time (aPTT) and prothrombin time (PT).Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - Liver FunctionLiver function evaluation included: total/direct/indirect bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyl transferase (GGT), alkaline phosphatase, total protein, albumin and glutamate dehydrogenase.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - Renal FunctionRenal function evaluation included: blood urea nitrogen (BUN), creatinine and uric acid.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - ElectrolytesElectrolytes evaluation included: sodium, potassium, chloride, calcium, phosphate, bicarbonate, ferritin, transferrin saturation, iron, iron binding capacity and unsaturated iron binding capacity. Number of participants with iron abnormalities was reported in different age groups.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - HormonesHormone evaluations included free thyroxine (T4), thyroid stimulating hormone (TSH), lutenizing hormone (LH), follicle stimulating hormone (FSH), and androstenedione. Numbers of participants with abnormalities of LH, FSH and androstenedione were reported in different age groups.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - Clinical ChemistryClinical chemistry evaluation included glucose, creatine kinase (CK), troponin I, and amylase.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - UrinalysisUrinalysis included: urine pH, qualitative urine glucose, qualitative urine ketones, qualitative urine protein, qualitative blood/hemoglobin, urine nitrite, urine leukocytes, urine RBC, urine WBC, urine granular casts, urine hyaline casts, urine urate (uric acid) acidic crystal, urine calcium oxalate crystals, urine amorphous crystals, urine bacteria, urine microscopic exam.Baseline to Week 49 visitNumber of Participants With Laboratory Test Abnormalities (Without Regard to Baseline Abnormality) by Week 49 - FecalNumber of participants with blood detected in fecal samples is presented.Baseline to Week 49 visitCategorical Summary of Liver Iron Accumulation by Week 49Magnetic resonance imaging (MRI) of Liver was obtained to quantify liver iron accumulation for safety monitoring. MRIs were sent to an independent central radiology imaging facility for calculation of the average transverse relaxation rate (R2\*) value which was used to monitor for iron accumulation in the liver. Number of participants meeting the following criteria is presented as follows: 1) normal: R2\*\<=75Hz at 1.5T or \<=139 Hz at 3.0T; 2) above normal: R2\*\>75Hz and \<=190Hz at 1.5T or R2\* \>139Hz and \<=369Hz at 3.0T; 3) mild overload: R2\*\>190Hz at 1.5T or R2\*\>360Hz at 3.0T.Screening, Weeks 13, 29 and 45Number of Participants With Physical Examination Findings Reported as SAEs by Week 49Physical examination included head, ears, eyes, nose, mouth, skin, heart and lung examinations, lymph nodes, gastrointestinal, musculoskeletal, and neurological systems. A targeted nose and throat mucosal exam were also performed to monitor for any signs of mucosal telangiectasias. An SAE was any untoward medical occurrence at any dose that resulted in death; was life threatening; required inpatient hospitalization or prolongation of existing hospitalization; resulted in persistent or significant disability/incapacity; resulted in congenital anomaly/birth defect. Investigators determined which physical examination findings were reported as SAEs.Baseline to Week 49 visitSummary of Tanner Stage Rating by Week 49Tanner staging was performed before the first dose of each dose escalation to monitor for signs of accelerated sexual development. The physical changes in pubertal development (pubic hair, penis and testes) were assessed using the system described by Marshall and Tanner. Stage 1 is preadolescent, Stages 2, 3, and 4 are initiation of puberty and Stage 5 is mature adult. Details about the system can be referred to Tanner JM. Growth at Adolescence. Blackwell Scientific Publications 1962; 2nd edition.Baseline, Weeks 17, 33 and 49Number of Participants With Vital Signs Findings Reported as SAEs by Week 49Vital signs evaluation included supine systolic and diastolic blood pressure (BP), pulse rate, and respiratory rate. An SAE was any untoward medical occurrence at any dose that resulted in death; was life threatening; required inpatient hospitalization or prolongation of existing hospitalization; resulted in persistent or significant disability/incapacity; resulted in congenital anomaly/birth defect. Investigators determined which vital signs findings were reported as SAEs.Baseline to Week 49 visitNumber of Participants With Electrocardiogram (ECG) Data Meeting Pre-specified Criteria by Week 49Number of participants with ECG data meeting the following criteria are presented: 1) corrected QT interval using Fridericia's formula (QTcF interval) \<450msec; 2) QTcF interval \>=450 and \<480msec; 3) QTcF interval \>=480 and \<500msec; 4) QTcF interval\>=500msec; 5) QTcF interval increase from baseline\<30msec; 6) QTcF interval increase from baseline \>=30 and \<60msec; 7) QTcF interval increase from baseline \>=60msec.Baseline to Week 49 visitChange From Baseline in Left Ventricular Ejection Fraction (LVEF) as Compared to Placebo by Week 49The LVEF was the ratio of blood ejected during systole to blood in the ventricle at the end of diastole. LVEF was measured by cardiac magnetic resonance image (MRI) or echocardiogram. The same method of cardiac imaging was used consistently within a single participant. Cardiac MRIs were read by a central imaging vendor and echocardiograms were read locally at each site. The LVEF values measured by cardiac MRI and echocardiogram are combined in the following presentation. The analysis of covariance (ANCOVA) model was used to analyze the change from baseline for domagrozumab compared to placebo on LVEF. The baseline result, age, use of angiotensin receptor blocker (ARB)/beta blocker/angiotensin converting enzyme (ACE) inhibitor and treatment were included as fixed effects in the model.Baseline to Week 49 visitHeight-adjusted Z-score of Lumbar Spine Bone Mineral Density Over Time by Week 49Bone mineral density (BMD) was evaluated by Dual energy X-ray Absorptiometry (DXA). The height adjusted Z-score presented below is the number of standard deviations which compares the BMD of the participant to the average BMD matched for their age, sex and ethnicity. If the Z-score was -2 standard deviations or lower, the result was "below the expected range for age". If the Z-score was above -2 standard deviations, the result was "within the expected range for age".Screening and Week 49Bone Age to Chronological Age Ratio by Week 49Bone age assessment was evaluated by the ratio of the bone age to the chronological age using the X rays of the hand and wrist. Ratio of bone age to chronological age was calculated by bone age/chronological age at scan date. Chronological age at scan date was calculated by (scan date-date of birth+1)/365.25.Screening, Weeks 17, 33 and 49Number of Participants With Suicidal Ideation and Suicidal Behavior Reported as AEs by Week 49An AE was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment. The Columbia Suicide Severity Rating Scale (C-SSRS) was performed to identify the risk of suicide ideation or behavior. AEs of suicide ideation or behavior were determined by the investigator.Baseline to Week 49 visitChange From Baseline on the 4 Stair Climb (4SC) as Compared to Placebo at Weeks 17, 33 and 49The 4SC quantified the time required for a participant to ascend 4 standard steps. Mixed effect model for repeated measures (MMRM) was used to analyze the change from baseline on 4SC for domagrozumab compared to placebo. The baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Forced Vital Capacity (FVC) at Weeks 17, 33 and 49FVC was measured by spirometry to evaluate respiratory muscle function. MMRM was used to analyze the change from baseline on FVC for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on the Northstar Ambulatory Assessment (NSAA) at Weeks 17, 33 and 49The NSAA is a 17-item test that measured gross motor function. Each individual item received a score of 0-unable to perform independently, 1-able to perform with assistance, or 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). MMRM was used to analyze the change from baseline for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on the Ankle Range of Motion (ROM) at Weeks 17, 33 and 49ROM was evaluated by using goniometry to evaluate the loss of motion in the ankles. MMRM was used to analyze the change from baseline on ROM for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on the Performance of Upper Limb (PUL) Overall Score at Weeks 17, 33 and 49The PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into three levels: shoulder (4 items), middle (9 items) and distal (8 items). Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on the Six Minute Walk Distance (6MWD) Score at Weeks 17, 33 and 496MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. MMRM was used to analyze the change from baseline on 6MWD for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Muscle Strength of Elbow Extension at Weeks 17, 33 and 49Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. MMRM was used to analyze the change from baseline on muscle strength for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Muscle Strength of Elbow Flexion at Weeks 17, 33 and 49Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. MMRM was used to analyze the change from baseline on muscle strength for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Muscle Strength of Hip Abduction at Weeks 17, 33 and 49Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. MMRM was used to analyze the change from baseline on muscle strength for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Muscle Strength of Knee Extension at Weeks 17, 33 and 49Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. MMRM was used to analyze the change from baseline on muscle strength for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline as Compared to Placebo on Muscle Strength of Shoulder Abduction at Weeks 17, 33 and 49Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. MMRM was used to analyze the change from baseline on muscle strength for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline to Week 49 on 4SC for Participants in Sequence 3 Compared to the Natural History Control GroupThe 4SC quantified the time required for a participant to ascend 4 standard steps. MMRM was used to analyze the change from baseline on 4SC for the natural history control group compared to placebo group (Sequence 3). This MMRM was established to assess the appropriateness on using the natural history control group as a comparator. The natural history control group was established by filtering the CINRG (Cooperative International Neuromuscular Research Group) natural history database. Participants who met the following requirements at baseline and had evaluable 4SC data on Week 49 were included in this group: 1) age: 6 to \<16 years; 2)treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4) participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 49Change From Baseline to Week 97 on 4SC for Participants in Sequence 1 Compared to the Natural History Control GroupThe 4SC quantified the time required for a participant to ascend 4 standard steps. MMRM was used to analyze the change from baseline on 4SC for domagrozumab compared to the natural history control group. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable 4SC data on Week 97 were included in this group: 1) age: 6 to \<16 years; 2) treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4 participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 97Change From Baseline to Week 49 on FVC for Participants in Sequence 3 Compared to the Natural History Control GroupFVC was measured by spirometry to evaluate respiratory muscle function. MMRM was used to analyze the change from baseline on FVC for the natural history control group compared to placebo group (Sequence 3). MMRM was used to analyze the change from baseline on FVC for the natural history control group compared to placebo group (Sequence 3). This MMRM was established to assess the appropriateness on using the natural history control group as a comparator. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable FVC data on Week 49 were included in this group: 1) age: 6 to \<16 years; 2)treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4) participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 49Change From Baseline to Week 97 on FVC for Participants in Sequence 1 Compared to the Natural History Control GroupFVC was measured by spirometry to evaluate respiratory muscle function. MMRM was used to analyze the change from baseline on FVC for domagrozumab compared to the natural history control group. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable FVC data on Week 97 were included in this group: 1) age: 6 to \<16 years; 2) treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4 participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 97Change From Baseline to Week 49 on NSAA for Participants in Sequence 3 Compared to the Natural History Control GroupThe NSAA is a 17-item test that measured gross motor function. A total score could range from 0 to 34 (fully-independent function). MMRM was used to analyze the change from baseline on NSAA for the natural history control group compared to placebo group (Sequence 3). This MMRM was established to assess the appropriateness on the using natural history control group as a comparator. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable NSAA data on Week 49 were included in this group: 1) age: 6 to \<16 years; 2)treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4) participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 49Change From Baseline to Week 97 on NSAA for Participants in Sequence 1 Compared to the Natural History Control GroupThe NSAA is a 17-item test that measured gross motor function. The total score could range from 0 to 34 (fully-independent function). MMRM was used to analyze the change from baseline on NSAA for domagrozumab compared to the natural history control group. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable NSAA data on Week 97 were included in this group: 1) age: 6 to \<16 years; 2) treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4 participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 97Change From Baseline to Week 49 on 6MWD for Participants in Sequence 3 Compared to the Natural History Control Group6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. MMRM was used to analyze the change from baseline on 6MWD for the natural history control group compared to placebo group (Sequence 3). This MMRM was established to assess the appropriateness on using the natural history control group as a comparator. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable 6MWD data on Week 49 were included in this group: 1) age: 6 to \<16 years; 2)treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4) participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 49Change From Baseline to Week 97 on 6MWD for Participants in Sequence 1 Compared to the Natural History Control Group6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. MMRM was used to analyze the change from baseline on 6MWD for domagrozumab compared to the natural history control group. The natural history control group was established by filtering the CINRG natural history database. Participants who met the following requirements at baseline and had evaluable 6MWD data on Week 97 were included in this group: 1) age: 6 to \<16 years; 2)treatment of glucocorticoid steroids \>=6 months prior to baseline and continuous use until the latest visit week; 3) 4SC: 2-15.9 seconds; 4) participants who were ambulatory at baseline; 5) LVEF: \>=55% or missing.Baseline, Week 97Change From Baseline as Compared to Placebo on 4SC at Week 17 in Pre-specified SubsetsThe 4SC quantified the time required for a participant to ascend 4 standard steps. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 17Change From Baseline as Compared to Placebo on 4SC at Week 33 in Pre-specified SubsetsThe 4SC quantified the time required for a participant to ascend 4 standard steps. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds.MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 33Change From Baseline as Compared to Placebo on 4SC at Week 49 in Pre-specified SubsetsThe 4SC quantified the time required for a participant to ascend 4 standard steps. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 49Change From Baseline as Compared to Placebo on FVC at Week 17 in Pre-specified SubsetsFVC was measured by spirometry to evaluate respiratory muscle function. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on FVC for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 17Change From Baseline as Compared to Placebo on FVC at Week 33 in Pre-specified SubsetsFVC was measured by spirometry to evaluate respiratory muscle function. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on FVC for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 33Change From Baseline as Compared to Placebo on FVC at Week 49 in Pre-specified SubsetsFVC was measured by spirometry to evaluate respiratory muscle function. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on FVC for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 49Change From Baseline as Compared to Placebo on NSAA at Week 17 in Pre-specified SubsetsThe NSAA is a 17-item test that measured gross motor function. Each individual item received a score of 0-unable to perform independently, 1-able to perform with assistance, or 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 17Change From Baseline as Compared to Placebo on NSAA at Week 33 in Pre-specified SubsetsThe NSAA is a 17-item test that measured gross motor function. Each individual item received a score of 0-unable to perform independently, 1-able to perform with assistance, or 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 33Change From Baseline as Compared to Placebo on NSAA at Week 49 in Pre-specified SubsetsThe NSAA is a 17-item test that measured gross motor function. Each individual item received a score of 0-unable to perform independently, 1-able to perform with assistance, or 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 49Change From Baseline as Compared to Placebo on PUL Overall Scores at Week 17 in Pre-specified SubsetsThe PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into three levels: shoulder (4 items), middle (9 items) and distal (8 items). Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time. MMRM was used to analyze the change from baseline .The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 17Change From Baseline as Compared to Placebo on PUL Overall Score at Week 33 in Pre-specified SubsetsThe PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into three levels: shoulder (4 items), middle (9 items) and distal (8 items).Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time. MMRM was used to analyze the change from baseline.The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 33Change From Baseline as Compared to Placebo on PUL Overall Score at Week 49 in Pre-specified SubsetsThe PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into three levels: shoulder (4 items), middle (9 items) and distal (8 items).Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time. MMRM was used to analyze the change from baseline.The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 49Change From Baseline as Compared to Placebo on 6MWD at Week 17 in Pre-specified Subsets6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on 6MWD for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 17Change From Baseline as Compared to Placebo on 6MWD at Week 33 in Pre-specified Subsets6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on 6MWD for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 33Change From Baseline as Compared to Placebo on 6MWD at Week 49 in Pre-specified Subsets6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. A subset analysis was performed by categorizing participants into 3 subsets according to the baseline 4SC time: 1) \<3.5 seconds, 2)\>=3.5 seconds and \<=8 seconds, 3) \>8 seconds. MMRM was used to analyze the change from baseline on 6MWD for domagrozumab compared to placebo in subsets. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Week 49Change From Baseline on Muscle Strength at Weeks 17, 33 and 49 in Pre-specified Subset (Baseline 4SC <3.5 Seconds)Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. Change from baseline on muscle strength in all participants with baseline 4SC \<3.5 seconds are presented below.Baseline, Weeks 17, 33 and 49Change From Baseline on Muscle Strength at Weeks 17, 33 and 49 in Pre-specified Subset (Baseline 4SC >=3.5 Seconds and <=8 Seconds)Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. Change from baseline on muscle strength in all participants with baseline 4SC \>=3.5 seconds and \<=8 seconds are presented below.Baseline, Weeks 17, 33 and 49Change From Baseline on Muscle Strength at Weeks 17, 33 and 49 in Pre-specified Subset (Baseline 4SC >8 Seconds)Muscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, hip abduction, elbow extension and shoulder abduction. Change from baseline on muscle strength in all participants with baseline 4SC \>8 seconds are presented below.Baseline, Weeks 17, 33 and 49Percent Change From Baseline in Whole Thigh Muscle Volume as Compared to Placebo by Weeks 17, 33 and 49The whole thigh muscle volume was measured by the proton density weighted sequence with magnetic resonance imaging (MRI) which was used to segment the entire thigh region into 3 primary regions for volumetric measure including 1) muscle; 2) inter/intra-muscular fat, 3) subcutaneous fat. MMRM was used to analyze the percent change from baseline for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Percent Change From Baseline as Compared to Placebo in Whole Thigh Muscle Volume Index by Weeks 17, 33 and 49The thigh muscle volume index was derived from the thigh muscle volume measurements as the fraction of total thigh tissue that was the lean muscle. MMRM was used to analyze the percent change from baseline for domagrozumab compared to placebo. The stratification factor, baseline result, treatment, time and treatment by time interaction were included as fixed effects in the model. Participants were included as a random effect and the model was fit with an unstructured covariance for the repeated measures.Baseline, Weeks 17, 33 and 49Change From Baseline in Whole Thigh Muscle Volume Through Week 97The whole thigh muscle volume was measured by the proton density weighted sequence with magnetic resonance imaging (MRI) which was used to segment the entire thigh region into 3 primary regions for volumetric measure including 1) muscle; 2) inter/intra-muscular fat, 3) subcutaneous fat.Baseline, Weeks 17, 33, 49 and 97Change From Baseline in Whole Thigh Muscle Volume Index Through Week 97The thigh muscle volume index was derived from the thigh muscle volume measurements as the fraction of total thigh tissue that was the lean muscle.Baseline, Weeks 17, 33, 49 and 97Concentration of Growth Differentiation Factor 8 (GDF-8) at Time 0 (Pre-dose),(C0(GDF-8) )GDF-8, also called myostatin, is the target of domagrozumab. C0(GDF-8) was observed directly from data.Predose on Day 1 of Week 1Trough Serum Concentration of GDF-8 (Ctrough,(GDF-8)) for Participants Receiving Domagrozumab in Period 1GDF-8, also called myostatin, is the target of domagrozumab. Ctrough,(GDF-8) was observed directly from data.Every 4 weeks on dosing day (at predose, end of 2-hour infusion and 6 hours since start of infusion) from Week 1 to Week 48Ctrough,(GDF-8) for Participants of Sequence 3 in Period 2GDF-8, also called myostatin, is the target of domagrozumab. Ctrough,(GDF-8) was observed directly from data.Every 4 weeks on dosing day (predose, end of 2-hour infusion and 6 hours since start of infusion) from Week 49 to Week 96Trough (Pre-dose) Serum Concentration (Ctrough) of DomagrozumabCtrough was observed directly from data.Every 4 weeks on dosing day (predose, end of 2-hour infusion and 6 hours since start of infusion) from Week 1 to Week 96 for Sequence 1; from Week 1 to Week 48 for Sequence 2; from Week 49 to Week 96 for Sequence 3Maximum Serum Concentration (Cmax) of DomagrozumabCmax was observed directly from data.Every 4 weeks on dosing day (predose, end of 2-hour infusion and 6 hours since start of infusion) from Week 1 to Week 96 for Sequence 1; from Week 1 to Week 48 for Sequence 2; from Week 49 to Week 96 for Sequence 3Time for Cmax (Tmax) of DomagrozumabTmax was observed directly from the data.Every 4 weeks on dosing day (predose, end of 2-hour infusion and 6 hours since start of infusion) from Week 1 to Week 96 for Sequence 1; from Week 1 to Week 48 for Sequence 2; from Week 49 to Week 96 for Sequence 3Terminal Half-life (t1/2) of Domagrozumab for Participants in Sequence 2 After the Last Dose of Domagrozumabt1/2 was calculated by Loge(2)/kel, where kel was the terminal phase rate constant calculated by a linear regression of the log-linear concentration-time curve. Participants in Sequence 2 received the last dose of domagrozumab at Week 45.At predose, end of 2-hour infusion and 6 hours since start of infusion at Week 45Area Under the Serum Concentration-time Curve Over the Dosing Interval Tau (AUCtau) of DomagrozumabThe dosing interval tau was 672 hours (4 weeks). AUCtau was obtained by linear/log trapezoidal method. The AUCtau was assessed to fully characterize PK data and it was only assessed on the first 12 participants enrolled in the study who were required to complete additional PK visits.At predose, end of 2-hour infusion,6 hours and 168 hours since start of infusion on Weeks 1, 13, 17, 29, 33 and 45Average Serum Concentration Over the Dosing Interval (Cav) of DomagrozumabCav was calculated by AUCtau/tau. The Cav was assessed to fully characterize PK data and it was only assessed on the first 12 participants enrolled in the study who were required to complete additional PK visits.At predose, end of 2-hour infusion, 6 hours and 168 hours since start of infusion on Weeks 1, 13, 17, 29, 33 and 45Clearance (CL) of DomagrozumabCL was calculated by Dose/AUCtau. The CL was assessed to fully characterize PK data and it was only assessed on the first 12 participants enrolled in the study who were required to complete additional PK visits.At predose, end of 2-hour infusion, 6 hours and 168 hours since start of infusion on Weeks 13, 29 and 45Volume of Distribution at Steady State (Vss) of Domagrozumab for Participants in Sequence 2 Required for Additional PK AssessmentVss was calculated by CL\*MRT, where MRT was the mean residence time. Vss was assessed to fully characterize PK data.At predose, end of 2-hour infusion, 6 hours and 168 hours since start of infusion on Week 45Number of Participants With Anti-drug Antibodies (ADA) Development by Week 97The criterion for positive result of ADA samples was ADA titer \>=1.88.Baseline, every 4 weeks from Week 5 to Week 97 visit or early terminationFalse615FalseFalseTrueFalse NCT06124196231636Vanderbilt University Medical CenterOTHERWearable Technology to Evaluate Hyperglycemia and HRV in DMD2024-03RECRUITINGDuchenne muscular dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death. Heart failure is a leading cause of death in DMD, but substantial knowledge gaps exist regarding predisposing risk factors. In the general population, hyperglycemia, insulin resistance, and decreased heart rate variability (HRV; reflecting autonomic dysfunction) are associated with cardiomyopathy (CM). It is unclear whether these factors are associated with DMD-CM. Closing this knowledge gap may lead to novel screening and therapeutic strategies to delay progression of DMD-CM, now the leading cause of death in patients with DMD. Despite risk factors for hyperglycemia, including the use of glucocorticoids (GCs), sarcopenia, obesity, and reduced ambulation, little is known regarding glucose abnormalities in DMD. Some of these same risk factors, along with the distance needed to travel for specialty care, present significant barriers to research participation and clinical care for individuals with DMD. Remote wearable technology may improve research participation in this vulnerable population. Therefore, this study will leverage remote wearable technologies to overcome these barriers and define the relationship between dysglycemia and DMD-CM. The goal of this remote study is to evaluate rates of hyperglycemia in individuals with DMD compared to control participants using continuous glucose monitors, and to determine the relationship between hyperglycemia and heart rate variability. Participants will utilize continuous glucose monitors, cardiac monitors, and activity monitors to evaluate glucose levels, heart rate, activity, and sleep.OBSERVATIONALCASE, DMD inclusion criteria: * Male * Age ≥10years * Clinical phenotype of DMD confirmed with muscle biopsy or genotype. * Informed consent for individuals ≥18 years * Parent/guardian informed consent and child assent for individuals \< 18 years CASE, DMD exclusion criteria: * Refusal to participate. * Diagnosis of diabetes prior to the study and/or taking insulin or other anti-diabetic drug therapy in \< 4 weeks prior to treatment * Use of a pacemaker, Implantable cardioverter-defibrillator (ICD), or other implanted device * Unable to comply with study procedures, in the opinion of the investigator. CONTROL inclusion criteria: * Male * Age ≥10years * Informed consent for individuals ≥18 years * Parent/guardian informed consent and child assent for individuals \< 18 years * BMI matched by Centers for Disease Control and Prevention (CDC) category (underweight, normal, overweight, obese) to cases. * Self-reported race/ethnicity matched to cases. * No known evidence of diabetes, impaired fasting glucose, or impaired glucose tolerance: * For individuals (all ≥10 years) of age with obesity, we anticipate that they will have hemoglobin A1c (HbA1c) screening based on American Academy of Pediatrics (AAP) recommendations. * Participants will be included if they have a normal HbA1c (\< 5.7%) or if they have an elevated HbA1c (5.7-6.4%) with no evidence of impaired fasting glucose or impaired glucose tolerance on clinically obtained oral glucose tolerance tests (OGTT) (e.g., fasting glucose \<100mg/dL and 2-hour glucose \<140mg/dL). CONTROL, exclusion criteria: * Refusal to participate. * Diagnosis of diabetes prior to the study and/or taking insulin or other anti-diabetic drug therapy in \< 4 weeks prior to treatment * Use of a pacemaker, Implantable cardioverter-defibrillator (ICD), or other implanted device * Unable to comply with study procedures, in the opinion of the investigator. * Diagnosis of DMD or Becker muscular dystrophyMALE2024-10-18T00:00:002023-11-032023-11-032024-03-292023-11-092024-04-012024-03-202030-022031-02falseFalseFalseDuchenne muscular dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death. Heart failure is a leading cause of death in DMD, but substantial knowledge gaps exist regarding predisposing risk factors. In the general population, hyperglycemia, insulin resistance, and decreased heart rate variability (HRV; reflecting autonomic dysfunction) are associated with cardiomyopathy (CM). It is unclear whether these factors are associated with DMD-CM. Closing this knowledge gap may lead to novel screening and therapeutic strategies to delay progression of DMD-CM, now the leading cause of death in patients with DMD. Despite risk factors for hyperglycemia, including the use of glucocorticoids (GCs), sarcopenia, obesity, and reduced ambulation, little is known regarding glucose abnormalities in DMD. Some of these same risk factors, along with the distance needed to travel for specialty care, present significant barriers to research participation and clinical care for individuals with DMD. Remote wearable technology may improve research participation in this vulnerable population. Therefore, this study will leverage remote wearable technologies to overcome these barriers and define the relationship between dysglycemia and DMD-CM. The goal of this remote study is to evaluate rates of hyperglycemia in individuals with DMD compared to control participants using continuous glucose monitors, and to determine the relationship between hyperglycemia and heart rate variability. Participants will utilize continuous glucose monitors, cardiac monitors, and activity monitors to evaluate glucose levels, heart rate, activity, and sleep.Duchenne Muscular Dystrophy80Rate of hyperglycemianumber of glucose measurements ≥140mg/dL over total number of glucoses compared between individuals with and without DMDonce over 10 daysStandard deviation of the mean R-to-R segment (SDANN)correlation of rate of hyperglycemia and SDANN, which reflects heart rate variabilityonce over 7 daysCoefficient of variation on CGMvariability of glucose levels on CGM measured by COV compared between individuals with and without DMDonce over 10 daysRate of significant hyperglycemianumber of glucose measurements ≥200mg/dL over total number of glucoses compared between individuals with and without DMDonce over 10 daysActivity level - measured by ActiGraphTime spent in sedentary, low intensity, and moderate to vigorous physical activity. Physical activity will be measured over 1-week using the ActiGraph GT9X accelerometers (ActiGraph, LLC, Pensacola, FL).once over 7 daysStandard deviation of normal R to R intervals (SDNN)correlation of rate of hyperglycemia and SDNNonce over 7 daysTrue10FalseFalseFalseFalse NCT02161835H-4-2014-026Rigshospitalet, DenmarkOTHERRelations Between Myotonia and Fitness2015-05COMPLETEDInvestigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.INTERVENTIONALInclusion Criteria: * Diagnosed with either Myotonia congenita or Paramyotonia congenita. * Patients who have symptoms of myotonia while they are walking stairs. Exclusion Criteria: * Pregnant or breastfeeding women. * Physical or mental condition, which prevent participating in the study protocol or which could influence the results. * Participating in other studies, which could influence the results.ALL2024-10-18T00:00:002014-06-062014-06-102015-05-132014-06-122015-05-142014-042015-022015-02falseInvestigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.Congenital MyotoniaNA9Changes in myotoniaChanges in myotonia is assessed before and after 10 weeks of exercise training. Myotonia is measured as self-assessment of myotonia using the Myotonia Behavior Scale every day in a week before training start and every day in a week before training finish. Furthermore, myotonia is measured as changes in time climbing a 14 steps stair before and after the 10 weeks training period.Week 0 and week 10Changes in fitnessAn incremental test is performed at baseline and in the end of 10 weeks training. The primary outcome is change between the two tests in maximal oxygen consumption and work load.baseline and after week 10Changes in creatine KinaseCreatine Kinase (CK) is measure in plasma to follow muscle injury during the trial.baseline, week 2, week 4, week 7 and week 10Changes in other myotoniaMyotonia assessed by eye-open-close test, hand open-close test, and by up-and-go test. The three performance tests describe objectively the degree of myotonia. The outcome measure is changes between before and after training.baseline and after week 10False1875FalseFalseFalseFalse NCT01478022ISOFEN1Parent Project, ItalyOTHERTo Compare the Pharmacokinetics Profiles of ISO 20, IBU 200 and IBU Plus ISO Combinations 200 + 202018-08COMPLETEDThis study will evaluate the pharmacokinetics plasma profile of 3 treatments: ISO 20, IBU 200 and IBU and ISO combinations (200 +20) given in single dose. This study is being conducted to support the submission for new indication in treatment of the combinations of Isosorbide Dinitrate and Ibuprofen as a treatment for Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Healthy free-living * Males between the age of 18 and 27 * Normal ECG * Body Mass Index of 19.0-29.0 (Kg/m2) * Subject healthy in the opinion of the Investigator * Signed informed consent after verbal and written information Exclusion Criteria: * Clinically significant underlying systemic illness that may preclude the subject's ability to complete the trial * Any Gastrointestinal conditions which, in the opinion of the Investigator, may interfere with the absorption of the drug or render the subjects unable to take oral medication (gastric ulcer, peptic ulcer, stomach acid, frequent diarrhea, gastrointestinal surgery) * History of the following cardiac diseases SBP \<120 mmHG or DBP \< 80 mmHg * Platelet count \< 100000/mm3 * History of recurrent headache * History of ongoing or clinically relevant glaucoma * History of alcohol, drug or medication abuse within the past 2 years * Treatment with norepinephrine, acetylcholine and histamine * History or presence of allergy or intolerance to the study drugs or their components or drugs of their class, or a history of drug or other allergy that, in the opinion of the physician responsible, contraindicates their participation * Participation in another study phase 1 with any investigational product within 6 months of screeningALL2024-10-18T00:00:002011-11-142011-11-222018-08-292011-11-232018-08-312011-102016-032016-03trueThis study will evaluate the pharmacokinetics plasma profile of 3 treatments: ISO 20, IBU 200 and IBU and ISO combinations (200 +20) given in single dose. This study is being conducted to support the submission for new indication in treatment of the combinations of Isosorbide Dinitrate and Ibuprofen as a treatment for Duchenne muscular dystrophy.Duchenne Muscular Dystrophy (DMD)PHASE112Pharmacokinetic parameter: AUC 0-12Area under the time-concentration curve (AUC 0-12) of IBU and ISO given concomitantly compared to AUCs of ISO alone and IBU alone. Time points: = at pre dose, 30, 60, 90, 120, 150, 180, 210, 240 min and 5, 6, 8, 10 and 12 hrs post doseAt period I, II and III with 7 days intervals between periodsC maxC max of IBU and ISO given concomitantly compared to AUCs of ISO alone and IBU alone. Time points: = at pre dose, 30, 60, 90, 120, 150, 180, 210, 240 min and 5, 6, 8, 10 and 12 hrs post doseAt period I, II and III with 7 days intervals between periodsT maxT max of IBU and ISO given concomitantly compared to AUCs of ISO alone and IBU alone. Time points: = at pre dose, 30, 60, 90, 120, 150, 180, 210, 240 min and 5, 6, 8, 10 and 12 hrs post doseAt period I, II and III with 7 days intervals beteween periodsAdverse EventsAdverse Events registration At visit 2, visit 3 and visit 49 daysVital signsPulse rate and blood pressure (Diastolic and Systolic) measurements in sitting position at pre-dose, and 1 and 3 hours after study drug intake. Complete physical examination At visit 2, visit 3 and visit 49 daysTrue1827FalseFalseFalseFalse NCT02147639SGT-003-101Solid Biosciences Inc.INDUSTRYA Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (INSPIRE DUCHENNE)2024-10RECRUITINGThis is a multicenter, open-label, non-randomized study to investigate the safety, tolerability, and efficacy of a single intravenous (IV) infusion of SGT-003 in participants with Duchenne muscular dystrophy. There will be 2 cohorts in this study. Cohort 1 will include participants 4 to \<7 years of age. Cohort 2 will include participants 7 to \<12 years of age. All participants will receive SGT-003 and will be enrolled in the study for 5 total years for long-term follow up.INTERVENTIONALInclusion Criteria: * Cohort 1: 4 to \<7 years of age * Cohort 2: 7 to \<12 years of age * Participants who are ambulatory. Ambulatory as defined as "being able to walk without the use of an assistive device." * Established clinical diagnosis of DMD and documented dystrophin gene mutation predictive of DMD phenotype confirmed by Sponsor genetic testing. * Negative for AAV antibodies. * On a stable dose of at least 0.5 mg/kg/day of oral daily prednisone or 0.75 mg/kg/day deflazacort for ≥12 weeks prior to entering the study. * Meet 10-meter walk/run time criteria * Meet time to rise from supine criteria * Participant has body weight: ≤50 kg Exclusion Criteria: * Treatment with dystrophin modifying drugs within 3 months prior to screening. * Current or prior treatment with an approved or investigational gene transfer drug. * Exposure to certain approved or investigational drugs within 3 months prior to screening or 5 half-lives since last administration, whichever is longer. * Established clinical diagnosis of DMD that is associated with any deletion mutation in exons 1 to 11 or 42 to 45, inclusive, in the DMD gene as documented by a genetic report and confirmed by Sponsor genetic testing. Other inclusion or exclusion criteria apply.MALE2024-10-18T00:00:002023-11-142023-11-142024-10-112023-11-182024-10-152024-05-062027-05-062031-05-06trueTrueFalseThis is a multicenter, open-label, non-randomized study to investigate the safety, tolerability, and efficacy of a single intravenous (IV) infusion of SGT-003 in participants with Duchenne muscular dystrophy. There will be 2 cohorts in this study. Cohort 1 will include participants 4 to \<7 years of age. Cohort 2 will include participants 7 to \<12 years of age. All participants will receive SGT-003 and will be enrolled in the study for 5 total years for long-term follow up.Duchenne Muscular DystrophyPHASE1PHASE243Incidence of treatment-emergent adverse events (AEs)Day 360Change from baseline in microdystrophin protein levelsMicrodystrophin expression evaluation in muscle biopsiesDay 90, Day 360Change from baseline in North Star Ambulatory Assessment (NSAA) total scoreAssessment of muscle function using a 17-item scale with each item scored from 0 to 2 and a higher score meaning a better outcome. The NSAA total score is defined as the sum of all 17 items, ranging from 0 to 34, with a higher score meaning a better outcome.Day 540Change from baseline in stride velocity 95th centile (SV95C)Assessment of peak ambulatory performance captured by wearable activity monitoring deviceDay 540False411TrueFalseTrueFalse NCT06013839TXA127-DMD-002Constant Therapeutics LLCINDUSTRYTXA127 in Non-Ambulant Patients With DMD Cardiomyopathy2023-09RECRUITINGThis open-label, single-arm multi-center study studying the safety and efficacy of TXA127 on non-ambulant patients with DMD Cardiomyopathy will comprise of two phases: 1. 6-month open-label treatment phase: Male DMD patients with documented cardiomyopathy, will receive a daily subcutaneous injection of TXA127 0.5 mg/kg. Treatment will be provided for 6 months. Treatment safety will be assessed by collection and review of AEs, vital signs, ECGs, physical examinations, PFTs, and laboratory parameters on Day 1, Month 1, and Month 6. Ejection Fraction, upper extremity strength and biomarker levels will be assessed at these study visits as well. In addition, an abbreviated safety visit will be conducted at Month 3. 2. 12-month optional extension phase: Patients will continue the same study drug regime for an additional 12 months. The primary objective of this phase is to obtain long-term safety data. Efficacy data will also be collected. Safety, efficacy, and exploratory biomarkers will be assessed at Month 12 and Month 18, using the same methods as in the treatment phase. In addition, abbreviated safety visits will be conducted at Month 9 and Month 15.INTERVENTIONALInclusion Criteria: 1. Male subjects 16 years of age or older who provide informed consent and can follow up with protocol procedures. Parental or guardian consent is required for subjects at least 16 years of age but younger than 18 years of age. 2. Documented diagnosis of Duchenne muscular dystrophy by genetic mutation analysis. 3. Documented cardiomyopathy, as assessed by echocardiogram with: 1. For a patient ≤ 20 years of age, EF \> 35% and \< 55% and fractional shortening of ≤ 28% at the time of screening. 2. For a patient \> 20 years of age, EF \> 20% and fractional shortening ≤ 28% at the time of screening. 4. Reproducible (+/- 10%) difference between screening and baseline of percent predicted FVC , using the best out of 3 efforts at each visit: 1. For a patient ≤ 20 years of age, FVC between 45% and 85%, inclusive. Patient should not utilize non-invasive ventilation such as CPAP or BiPAP. 2. For a patient \>20 years of age, all of the following should exist: FVC \> 20%, EF \> 20% in baseline ECHO and ability to be off non-invasive ventilation, such as CPAP and BiPAP, for at least 4 consecutive hours a day (24 hours period). 5. Subjects must be taking systemic glucocorticoids for at least six months prior to screening. 6. Subjects taking mineralocorticoid receptor antagonists, must be taking the drug for at least three months prior to screening 7. Non-ambulant and cared for by a trained caregiver Exclusion Criteria: 1. Therapy with intravenous inotropic or vasoactive medications at the time of screening 2. Planned or likelihood of major surgery in the 6 months after planned enrollment. 3. Patient is using a left ventricular assist device (LVAD) or actively in the process of acquiring a LVAD. 4. Estimated glomerular filtration rate (GFR) \<50 mL/min, as calculated by the CKD-EPI Creatinine equation 2021 (https://www.kidney.org/professionals/kdoqi/gfr_calculator) 5. Patient is suffering from unstable systemic allergic reaction(s), connective tissue disease or autoimmune disorder(s), requiring active intervention 6. History of cardiac tumor or current cardiac tumor 7. Known moderate-to-severe aortic stenosis/insufficiency or severe mitral stenosis/regurgitation 8. Current alcohol or drug abuse 9. Known history of chronic viral hepatitis unless considered cured based on hepatitis C RNA negative results 10. Hepatic dysfunction upon screening evidenced by bilirubin levels or gamma-GT levels above normal, deemed as clinically significant by the PI/Sub-I, and/or abnormal hematology (hematocrit \<25%, WBC \<3000/μl, platelets \<100,000/μl), without a reversible, identifiable cause. Total bilirubin elevations \> 2 times the upper reference range, consistent with Gilbert's Syndrome, may be enrolled if there is no other evidence of liver dysfunction 11. Uncontrolled diabetes (HbA1c \>9.0 percent) 12. Inability to comply with protocol-related procedures, including required study visits 13. Any condition or other reason that, in the opinion of the investigator or Medical Monitor, would render the subject unsuitable for the study 14. Currently receiving or received within 90 days of enrollment (Day 1) an investigational treatment on another clinical study or expanded access protocol. This will include patients currently being treated or who have not completed follow-up to treatment with an investigational cell-based therapy within 6 months prior to enrollment and patients actively receiving an investigational therapy for cardiovascular repair/regeneration.MALE2024-10-18T00:00:002023-08-162023-08-222024-01-222023-08-282024-01-232023-08-312024-082024-12TrueFalseThis open-label, single-arm multi-center study studying the safety and efficacy of TXA127 on non-ambulant patients with DMD Cardiomyopathy will comprise of two phases: 1. 6-month open-label treatment phase: Male DMD patients with documented cardiomyopathy, will receive a daily subcutaneous injection of TXA127 0.5 mg/kg. Treatment will be provided for 6 months. Treatment safety will be assessed by collection and review of AEs, vital signs, ECGs, physical examinations, PFTs, and laboratory parameters on Day 1, Month 1, and Month 6. Ejection Fraction, upper extremity strength and biomarker levels will be assessed at these study visits as well. In addition, an abbreviated safety visit will be conducted at Month 3. 2. 12-month optional extension phase: Patients will continue the same study drug regime for an additional 12 months. The primary objective of this phase is to obtain long-term safety data. Efficacy data will also be collected. Safety, efficacy, and exploratory biomarkers will be assessed at Month 12 and Month 18, using the same methods as in the treatment phase. In addition, abbreviated safety visits will be conducted at Month 9 and Month 15.DMD-Associated Dilated CardiomyopathyPHASE210To evaluate the safety of TXA127 in patients with DMDIncidence of adverse events (AEs), their severity and relationship to treatment6 months plus 12 month extensionTo evaluate the effects of treatment on ejection fraction (EF)Percent change in EF, as measured by echocardiogram (ECHO); Absolute change in EF, as measured by echocardiogram6 months plus 12 month extensionTo evaluate the effects of treatment on upper extremity muscle functionPercent change in upper extremity strength, as measured by grip strength with a dynamometer; Absolute change in upper extremity strength, as measured by grip strength with a dynamometer6 months plus 12 month extensionTo evaluate the effects of treatment on fractional shortening (FS)Percent and absolute change in fractional shortening as measured by echocardiogram6 months plus 12 month extensionFalse16FalseFalseFalseFalse NCT06450639BN45398Hoffmann-La RocheINDUSTRYAn Open-label Study to Assess the Efficacy and Safety of Satralizumab in Duchenne Muscular Dystrophy2024-10RECRUITINGThe purpose of this study is to assess the efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of satralizumab, a humanized anti-interleukin-6 receptor (aIL-6R) monoclonal antibody, in ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) age ≥ 8 to \< 16 years old receiving corticosteroid therapy.INTERVENTIONALKey Inclusion Criteria: * Signed Informed Consent Form and Signed Assent Form when appropriate * Male at birth * A definitive diagnosis of DMD prior to screening based on documentation of clinical findings and prior confirmatory genetic testing using a clinical diagnostic genetic test. * Age ≥ 8 and \< 16 years at the time of signing Informed Consent Form * Participants who are fracture-naive are additionally required to meet the following criteria: * No history of prior low-trauma fractures before the baseline visit nor any radiological findings indicative of prevalent VF at the screening visit * Be ambulatory, defined as able to walk independently without assistive devices. - Age ≥ 8 to \< 12 years old at the time of screening * Participants with a prior history of low-trauma fractures are additionally required to meet the following criteria: * Evidence of at least one prevalent vertebral compression fracture of Genant Grade 1 or higher (or radiographic signs of VF) or history of at least one low-trauma long-bone fracture (upper or lower extremity) * Ambulatory (see above definition) if age ≥ 8 to \< 12. * Non-ambulatory if age ≥ 12 to \<16 * Daily oral corticosteroids Key Exclusion Criteria: * Major surgery (e.g. spinal surgery) within 3 months prior to Baseline or planned surgery or procedure that would interfere with the conduct of the study for any time during this study •Presence of any clinically significant illness * Has serological evidence of current, chronic, or active human immunodeficiency virus, tuberculosis, hepatitis C, or hepatitis B infection •Has a symptomatic infection (e.g. upper respiratory tract infection, pneumonia, pyelonephritis, meningitis) within 4 weeks prior to baseline * Body weight \> 100 kg •Treatment with prohibited therapies as defined by the protocol * Has received a live or live attenuated virus vaccine within 6 weeks of the Baseline visit or expects to receive a vaccination during the first 3 months after Baseline. * Has abnormal laboratory values considered clinically significant as defined by the protocol * Any medical condition that might interfere with the evaluation of lumbar spine BMD, such as severe scoliosis or spinal fusion. * Participant has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the investigator * Participant has an allergy or hypersensitivity to the study medication or to any of its constituents Other protocol defined inclusion and exclusion criteria may applyMALE2024-10-18T00:00:002024-06-052024-06-052024-10-072024-06-102024-10-082024-10-312026-06-302027-06-30trueTrueFalseThe purpose of this study is to assess the efficacy, safety, pharmacokinetics (PK) and pharmacodynamics (PD) of satralizumab, a humanized anti-interleukin-6 receptor (aIL-6R) monoclonal antibody, in ambulatory and non-ambulatory patients with Duchenne muscular dystrophy (DMD) age ≥ 8 to \< 16 years old receiving corticosteroid therapy.Duchenne Muscular DystrophyPHASE250Change from Baseline to Week 52 in Lumbar Spine (LS) Bone Mineral Density (BMD) Z-Score Measured By Dual-Energy X-ray Absorptiometry (DEXA)BMD of the LS is measured using DEXABaseline to Week 52Percentage of Participants with Treatment-Emergent Adverse EventsAn adverse event is any untoward medical occurrence in a patient or clinical study participant temporally associated with the use of a study treatment, whether or not considered related to the study treatmentUp to approximately 30 MonthsPercentage of Participants with Serious Adverse EventsA serious adverse event is defined as any untoward medical occurrence that, at any dose: Results in death, Is life threatening, Requires inpatient hospitalization or prolongation of existing hospitalization, Results in persistent disability or incapacity, Is a congenital anomaly or birth defect, Medically SignificantUp to approximately 30 MonthsPercentage of Participants with Adverse Events of Special InterestUp to approximately 30 MonthsChange from Baseline to Weeks 24 and 52 in LS BMD Z-Score Measured by DEXABaseline to Week 24 and Week 52Change from Baseline to Weeks 24 and 52 in Total Body Less Head Bone Mineral Density (TBLH BMD) Z-Score Measured by DEXABaseline to Week 24 and Week 52Change from Baseline to Weeks 24 and 52 in Circulating Bone Metabolism BiomarkersBone biomarkers are produced from the bone remodeling process and include bone formation biomarkers, bone resorption biomarkers and regulators of bone turnoverBaseline to Week 24 and Week 52Mean Number Per Participants of New Low-Trauma Long-Bone or Vertebral Fractures (VF)"A low-trauma fracture is defined as one occurring spontaneously or resulting from a fall from a standing height or less, without major trauma or the influence of an external force (e.g. motor vehicle accident)"Baseline, Week 52 and Week 104Percentage of Participants with New Low-Trauma Long-Bone or VFBaseline, Week 52 and Week 104Change in Time to Rise From the Floor (RFF) VelocityThe rise from the floor test quantifies the time required for the subject to stand in an upright position with arms by sides, starting from the supine position with arms by sides.Baseline to Week 52Observed Serum Concentration of Satralizumab at Specified Trough Timepoints Up To Week 104Up to Week 104Apparent Clearance of SatralizumabDrug clearance is a quantitative measure of the rate at which a drug substance is removed from the blood.Up to Week 104Apparent Volume of Distribution of SatralizumabVolume of distribution is defined as the theoretical volume in which the total amount of drug would need to be uniformly distributed to produce the desired plasma concentration of a drug.Up to Week 104Area Under the Concentration-Time Curve of SatralizumabArea under the concentration-time curve from time zero to the last quantifiable concentration of Satralizumab in plasma.Up to Week 104Anti-Drug Antibodies (ADAs) at Baseline and Incidence of ADAs During the StudyUp to approximately 30 MonthsFalse815TrueFalseTrueTrue NCT00428935CCRI IRB05-00118Nationwide Children's HospitalOTHERSafety Study of Mini-dystrophin Gene to Treat Duchenne Muscular Dystrophy2013-02COMPLETEDThe purpose of this study is to determine the safety of a miniature dystrophin gene in the treatment of progressive muscle weakness due to Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Known null mutation of the Dystrophin gene * Male age of 5 years or older * If taking corticosteroids, must have dose unchanged for the past 3 months * Serum creatine kinase elevation greater than 10x normal value (established by Children's Hospital) * Progressive, symmetrical proximal muscle weakness of arms and legs Exclusion Criteria: * Unable to cooperate for muscle strength testing * Joint contractures that prohibit muscle strength testing * Concomitant illness * Individuals predisposed to excessive vagal responses (bradyarrhythmia or hypotension) * Controlled substance abuseMALE2024-10-18T00:00:002007-01-262007-01-262013-02-042007-01-302013-02-052006-032009-032010-07The purpose of this study is to determine the safety of a miniature dystrophin gene in the treatment of progressive muscle weakness due to Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE16Number of Participants with Adverse Events as a Measure of Safety and TolerabilityPhysical Exams assessing major organ systems and safety labs (GGT, Bilirubin, Glucose, Amylase, CBC/Diff, AFP, Platelets, PT/PTT, Creatinine, Electrolytes, Total protein, Alkaline phosphatase, and Urinalysis)followed for 2 years post injectionmini-dystrophin gene expression at the site of gene transfer90 days post injectionMaximal Volume Isometric Contraction Testing as a measure of muscle strengthout to 2 years post injectionFalse515TrueFalseFalseFalse NCT01239758A031-06Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USAINDUSTRYExtension Study of ACE-031 in Subjects With Duchenne Muscular Dystrophy2013-01TERMINATEDTo evaluate the long-term safety and tolerability of ACE-031 administration in subjects with Duchenne muscular dystrophy (DMD) who participated in Study A031-03. \[Note: This study was terminated based on preliminary safety data. Pending further analysis of safety data and discussion with health authorities, a new ACE-031 trial will be planned.\]INTERVENTIONALInclusion Criteria: * Completion of participation in Study A031-03 and Investigator approval * Continuation of corticosteroid therapy at the same absolute dose and schedule as on Study A031-03 Exclusion Criteria: * Participation in any other therapeutic clinical trial * Plans to have surgery during the course of the studyMALE2024-10-18T00:00:002010-11-012010-11-102013-01-302010-11-112013-02-012010-102011-052011-05trueTo evaluate the long-term safety and tolerability of ACE-031 administration in subjects with Duchenne muscular dystrophy (DMD) who participated in Study A031-03. \[Note: This study was terminated based on preliminary safety data. Pending further analysis of safety data and discussion with health authorities, a new ACE-031 trial will be planned.\]Duchenne Muscular DystrophyPHASE211Number of patients with adverse events.From treatment initiation to End-of-Study Visit, approximately 24 weeks later.Change in laboratory parameters and vital signs.Baseline to End-of-Study Visit, approximately 24 weeks later.Percent change in total lean body mass by DXA scan.Baseline to End-of-Study Visit, approximately 24 weeks later.Percent change in total body and lumbar spine bone mineral density by DXA scan.Baseline to End-of-Study Visit, approximately 24 weeks later.Percent change in muscle strength score by hand-held myometry.Baseline to End-of-Study Visit, approximately 24 weeks later.Change in distance traveled in 6 minutes (standardized 6-Minute-Walk Test).Baseline to End-of-Study Visit, approximately 24 weeks later.Change in time to travel 10 meters (standardized 10-Meter-Walk/Run test).Baseline to End-of-Study Visit, approximately 24 weeks later.Change in pulmonary function tests.Baseline to End-of-Study Visit, approximately 24 weeks later.False4FalseFalseFalseFalse NCT03558958P-004Phrixus Pharmaceuticals, Inc.INDUSTRYSafety and Efficacy of P-188 NF in DMD Patients2021-09TERMINATEDThis is an open-label study to evaluate the safety, tolerability and efficacy of daily, subcutaneous dosing with P-188 NF (Carmeseal-MD™) in non-ambulatory boys with Duchenne Muscular Dystrophy (DMD). This study will determine if continuous treatment with Carmeseal-MD™ can maintain or improve pulmonary function, and skeletal and cardiac muscle function, compared to baseline, in boys 12-25 years of age.INTERVENTIONALInclusion Criteria: * Male * 12 - 25 years of age * Have phenotypic evidence of DMD * Have documentation of the presence of a deletion, duplication or point mutation in the dystrophin gene * Willingness to receive daily subcutaneous (SC) injections of up to 3 mL * Have LVEDV that is ≥100% of normal corrected for body mass when measured by cardiac MRI * Have impaired respiratory function (percent predicted PEF ≤80%) * Have ability to perform PEF within 15% of first assessment * Have mild to moderate fibrosis of the heart as assessed by MRI * Have left ventricular ejection fraction fractions of \<50% * Have been non-ambulatory for at least six months * Be on corticosteroids, with a stable treatment regimen for at least six months * Have been on a stable treatment regimen for cardiac dysfunction for at least 3 months prior to baseline (ACE inhibitors, beta blockers and/or ARBs) * Have clinically acceptable screening values, including serum creatinine levels blood urine nitrogen, cystatin C * Have willingness and ability to comply with scheduled visits, drug administration, drug administrative plan, study procedures, laboratory tests, and treatment restrictions * Be likely to survive for the duration of the treatment in the investigator's opinion * Have ability to provide written informed consent (parent/guardian consent if applicable)/assent (if \<18 years of age). Exclusion Criteria: * Exposure to another investigational drug within 90 days prior to start of study treatment * Have DMD-related hypoventilation for which daytime assisted ventilation is needed * Unable to perform pulmonary function testing * Have respiratory failure * Unable or unwilling to undergo scan with gadolinium as contrast agent * Unable or unwilling to undergo echocardiography * Have severe fibrosis of the heart as assessed by MRI * Used carnitine, creatine, glutamine, oxatomide, coenzyme Q10 or vitamin E or any herbal medicines with 30 days prior to baseline * Have a history of major surgical procedure within 30 days prior to start of study treatment * Have ongoing immunosuppressive therapy (other than corticosteroids) * Are participating in a therapeutic clinical trial * Are on any concomitant medication with a depressive or stimulating effect on respiration or the respiratory tract * Have a diagnosis of chronic lung disease * Chronic use of beta-2 agonists or any other bronchodilating medication (chronic use is daily intake for more than 14 days within the last 6 months) * Have moderate or severe hepatic impairment or moderate to severe renal impairment * Have expectation of major surgical procedure during the conduct of the study * Have prior or ongoing medical conditions that makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of the treatment results * Have ever previously received P-188 NF as a therapeutic agentMALE2024-10-18T00:00:002018-06-052018-06-052023-01-092018-06-152023-01-112018-08-082021-09-012021-09-01trueTrueFalseThis is an open-label study to evaluate the safety, tolerability and efficacy of daily, subcutaneous dosing with P-188 NF (Carmeseal-MD™) in non-ambulatory boys with Duchenne Muscular Dystrophy (DMD). This study will determine if continuous treatment with Carmeseal-MD™ can maintain or improve pulmonary function, and skeletal and cardiac muscle function, compared to baseline, in boys 12-25 years of age.Duchenne Muscular DystrophyPHASE22Forced vital capacity (FVC)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Maximal inspiratory pressure (MIP)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Maximal expiratory pressure (MEP)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Peak cough flow (PCF)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Left ventricular end-diastolic volume (LVEDV)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Ejection Fraction (EF)Change from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Degree of fibrosis as assessed by cardiac MRIChange from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 182, 364Performance of upper limb (PUL) testChange from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 91, 182, 273, 364Cardiac troponin IChange from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 28, 56, 91, 182, 273, 364Muscle creatine kinaseChange from baseline (pre-treatment) to end of treatment (52 weeks)Baseline, Days 28, 56, 91, 182, 273, 364False1225FalseFalseFalseTrue NCT05601986MI on DMDHalic UniversityOTHERMotor Imagery on Children With DMD on Gait and Balance Functions2024-02RECRUITINGThe most common muscular dystrophy among pediatric neuromuscular diseases is Duchenne Muscular Dystrophy (DMD). There is no consensus on a standardized physiotherapy and rehabilitation program or exercise prescription in DMD. Motor imagery (MI) is defined as visualizing motor activities in one's mind without performing any movement. There are studies examining the effectiveness of motor imagery in stroke, cerebral palsy, Parkinson's, peripheral facial paralysis, and phantom pain. This study is aimed to examine the effect of motor imagery on gait and balance functions in children with Duchenne Muscular Dystrophy. Boys residing in Istanbul Turkey, between the ages of 5 and 12, with a diagnosis of DMD who have not lost their ability to ambulate independently will be included in the study. The included individuals will be divided into two groups due to randomization: Group A (Control Group Physiotherapy and Rehabilitation Program) and Group B (Additional Motor Imagery Training to Intervention Group Physiotherapy and Rehabilitation Program). While the physiotherapy and rehabilitation program is applied to the participants in Group A with 40-minute sessions on 2 non-consecutive days of the week for 8 weeks, the participants in Group B will receive an additional 25-30-minute motor imagery program to the physiotherapy and rehabilitation program. Participants were tested with Kinovea Gait Analysis, Timed Up and Go Test, 2 Minute Walking Test, Motor Function Rating Scale for Neuromuscular Diseases, timed performance tests, Pediatric Berg Balance Scale, Pediatric Fear of Fall Questionnaire (Ped-FOF) before and after the program. will be evaluated later. IBM SPSS (Statistical Package for Social Sciences) statistical program version 22.0 will be used for statistical analysis. The conformity of the variables to the normal distribution will be determined by the "Shapiro-Wilk Test". If the variables show normal distribution, the variation within the group will be analyzed with the "Paired Sample T Test", if not, the "Wilcoxon Test" will be analyzed. In the comparison between groups, if the variables show normal distribution, it will be done with the "Independent T Test" in independent groups and the "Mann Whitney U Test" if they do not show normal distribution. Categorical data distributions will be evaluated with the "Chi-square test". In all analyses, p\<0.05 will be considered statistically significant.INTERVENTIONALInclusion Criteria: * Have a physician-prescribed diagnosis of Duchenne Muscular Dystrophy * Not having any injury or surgical operation in the last 6 months * Being between Levels 1-5 (children who continue to ambulate independently) according to - Brooke Lower Extremity Functional Classification Modified Mini-Mental Test score \>27 * Having the level of cooperation to follow the physiotherapist's instructions * Volunteering to participate in research Exclusion Criteria: * Having severe contractures that interfere with functional activities * Level 6-10 (children not capable of independent ambulation) according to the Brooke Lower Extremity Functional Classification * To receive applications in addition to the physiotherapy and rehabilitation program or different from the physiotherapy and rehabilitation programMALE2024-10-18T00:00:002022-10-202022-10-312024-02-282022-11-012024-02-292022-12-162024-07-012024-12-01FalseFalseThe most common muscular dystrophy among pediatric neuromuscular diseases is Duchenne Muscular Dystrophy (DMD). There is no consensus on a standardized physiotherapy and rehabilitation program or exercise prescription in DMD. Motor imagery (MI) is defined as visualizing motor activities in one's mind without performing any movement. There are studies examining the effectiveness of motor imagery in stroke, cerebral palsy, Parkinson's, peripheral facial paralysis, and phantom pain. This study is aimed to examine the effect of motor imagery on gait and balance functions in children with Duchenne Muscular Dystrophy. Boys residing in Istanbul Turkey, between the ages of 5 and 12, with a diagnosis of DMD who have not lost their ability to ambulate independently will be included in the study. The included individuals will be divided into two groups due to randomization: Group A (Control Group Physiotherapy and Rehabilitation Program) and Group B (Additional Motor Imagery Training to Intervention Group Physiotherapy and Rehabilitation Program). While the physiotherapy and rehabilitation program is applied to the participants in Group A with 40-minute sessions on 2 non-consecutive days of the week for 8 weeks, the participants in Group B will receive an additional 25-30-minute motor imagery program to the physiotherapy and rehabilitation program. Participants were tested with Kinovea Gait Analysis, Timed Up and Go Test, 2 Minute Walking Test, Motor Function Rating Scale for Neuromuscular Diseases, timed performance tests, Pediatric Berg Balance Scale, Pediatric Fear of Fall Questionnaire (Ped-FOF) before and after the program. will be evaluated later. IBM SPSS (Statistical Package for Social Sciences) statistical program version 22.0 will be used for statistical analysis. The conformity of the variables to the normal distribution will be determined by the "Shapiro-Wilk Test". If the variables show normal distribution, the variation within the group will be analyzed with the "Paired Sample T Test", if not, the "Wilcoxon Test" will be analyzed. In the comparison between groups, if the variables show normal distribution, it will be done with the "Independent T Test" in independent groups and the "Mann Whitney U Test" if they do not show normal distribution. Categorical data distributions will be evaluated with the "Chi-square test". In all analyses, p\<0.05 will be considered statistically significant.Duchenne Muscular DystrophyNA34gait analysis1Change from Baseline Stride length in metersone week before the intervention and one week after the interventiongait analysis2Change from Baseline stride width in metersone week before the intervention and one week after the interventiongait analysis3Change from Baseline Systolic cadenceone week before the intervention and one week after the interventiongait analysis4Change from Baseline walking speed in meters/secondone week before the intervention and one week after the interventionbalanceChange from Baseline Pediatric Balance Scale in grades 0-56 pointsone week before the intervention and one week after the interventionmuscle strength measurementStrength measurements of lower extremity musclesone week before the intervention and one week after the interventionFalse512FalseFalseFalseFalse NCT01826422DHA/EPA in DunchenneCoordinación de Investigación en Salud, MexicoOTHER_GOVEffect of EPA and DHA in the Inflammation and Metabolic Disorders in DMD/DMB Patients2018-02COMPLETEDThe purpose of this study is to evaluate the effect of docosahexaenoic fatty acid and eicosapentaenoic fatty acid supplementation for six months on the inflammation state as well as the process of muscular regeneration and the metabolic disorders like obesity and insulin resistance in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (DMB) compared to those receiving placebo.INTERVENTIONALInclusion Criteria: * Written informed consent and assent by the patient and both parents or guardian. * Patients with clinical diagnosis of Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (DMB) * Patients were not under treatment with corticosteroids Exclusion Criteria: * Patients decided to withdraw from the study * Consumption of dietary supplements containing polyunsaturated fatty acids omega 3. * With hypersensitivity to fish oil. * Patients with respiratory and gastrointestinal problems. Medical responsible assessment the presence of respiratory and gastrointestinal problems. * Patients with difficulty swallowing food, including those who have the difficulty ingesting oil capsules. * Gastrostomy fed patients.MALE2024-10-18T00:00:002013-04-042013-04-052018-02-082013-04-082018-03-092013-032017-012017-01trueThe purpose of this study is to evaluate the effect of docosahexaenoic fatty acid and eicosapentaenoic fatty acid supplementation for six months on the inflammation state as well as the process of muscular regeneration and the metabolic disorders like obesity and insulin resistance in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (DMB) compared to those receiving placebo.Muscular Dystrophy, DuchenneNA40Body Composition (Body Fat)We observed changes in body composition such as total body fat by Dual X-ray Absorptiometry (DXA).At baseline and at months 3 and 6 of supplementation.Lean MassWe observed changes in body composition such as total lean mass by Dual X-ray Absorptiometry (DXA).At baseline and at months 1, 2, 3, 4, 5 and 6 of supplementation.Anthropometric Measurement: Body Mass IndexWe measured weight, height by anthropometric to calculate the body mass index (body mass index).At baseline and at months 1, 2, 3, 4, 5 and 6 of supplementation.Glucose in SerumA fasting blood sample was taken; serum glucose (mg/dL) levels were measured by the glucose-oxidase method.At baseline and at months 1, 2, 3, 4, 5 and 6 of supplementation.Insulin in BloodA fasting blood sample was taken; insulin was quantified utilizing a commercial kit, that is based on the radioimmunoanalysis method (RIA).At baseline and at months 1, 2, 3, 4, 5 and 6 of supplementation.Inflammation Biomarkers (TNF-A)Plasma cytokine TNF-A was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Inflammation Biomarkers (IL-1)Plasma cytokine IL-1 was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Inflammation Biomarkers (IL-6)Plasma cytokine IL-6 was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3, and 6 of supplementation.Inflammation Biomarkers (IL-10)Plasma cytokine IL-10 was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Inflammation Biomarker (IL-6 Expression)The messenger ribonucleic acid (mRNA) expression of cytokines IL-6 from circulating leucocytes was determined by quantifying the real-time polymerase chain reaction (PCR).Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Inflammation Biomarker (TNF-A Expression)The messenger ribonucleic acid (mRNA) expression of cytokines TNF-A from circulating leucocytes was determined by quantifying the real-time polymerase chain reaction (PCR)Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Inflammation Biomarker (IL-1 Expression)The messenger ribonucleic acid (mRNA) expression of cytokines IL-1 was determined by quantifying the real-time polymerase chain reaction (PCR).Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Markers of Muscle Degeneration (Creatinine Kinase)The concentration in serum of CK was determined by chemiluminescent immunometric assay in U/L.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Markers of Muscle Degeneration (MMP9)Plasma matrix metalloproteinase 9 (MMP9) was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in ng/mL.Time Frame: At baseline and at months 1, 2, 3 of supplementation.Markers of Muscle Degeneration (sFas)The concentration in plasma of soluble Fas (sFas) was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Markers of Muscle Degeneration (Receptor of Fas)The concentration in plasma of the receptor o Fas (rFas) was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.At baseline and at months 1, 2, 3 and 6 of supplementation.Markers of Muscle Regeneration (VEGF)Vascular endothelial growth factor (VEGF) was quantified using enzyme linked immunosorbent assay (ELISA).Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Markers of Muscle Regeneration (FGF)Plasma marker of regeneration fibroblast growth factor basic (FGF) was determined by enzyme-linked immunosorbent assay (ELISA) with a multiplex kit in picograms/mL.Time Frame: At baseline and at months 1, 2, 3 and 6 of supplementation.Incorporation of DHA in the ErythrocytesThe percentage of DHA in the membrane of erythrocytes was determinated by gas chromatography.Time Frame: At baseline and at months 1, 2, 3, 4, 5 and 6 of supplementation.Incorporation of EPA in the ErythrocytesThe percentage of EPA in the membrane of erythrocytes was determinated by gas chromatography.Time Frame: At baseline, at 1, 2, 3, 4, 5, and 6False618TrueFalseFalseFalse NCT03354039TAMDMDUniversity Hospital, Basel, SwitzerlandOTHERTamoxifen in Duchenne Muscular Dystrophy2022-12COMPLETEDA randomised, double blind, placebo controlled, 48-week clinical trial with a core population (group A) of 79 ambulant 6.5 to 12 years old Duchenne's muscular dystrophy (DMD) patients that are under stable standard treatment of care with glucocorticoids. Furthermore, the investigators plan to include 6-20 non-ambulant patients who do not receive glucocorticoids (as parallel group B), 10 to 16 years old, to obtain efficacy and safety data in a broader DMD population. All patients will receive 20 mg of tamoxifen (TAM) or placebo once daily during 48 weeks. An open label extension (OLE) trial for participants of the TAMDMD main study will be performed. All TAMDMD patients on TAM or placebo are offered to enter this OLE.INTERVENTIONALInclusion Criteria: Group A (ambulant patients) * Documented diagnosis of DMD by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or \<5% of normal) on Western blot or immunostaining * Stable treatment with glucocorticoids \>6 months (no significant change in dosage (\>0.2mg/kg)) at screening; dosing adaptations according to weight change are allowed * Male gender * 6.5 to 12 years of age at time of screening * weight \>20kg * ambulant patients * able to walk at least 350 meters in 6 minute walking distance test without assistance at screening * MFM D1 subdomain of the MFM scale \>40% at screening * Ability to provide informed consent and to comply with study requirements * Patients harbouring a nonsense mutation treatable with the approved drug ataluren should be under stable ataluren treatment for at least 3 months or in case of nontolerance being off ataluren treatment for at least 3 months before screening Group B (non-ambulant patients) * Documented diagnosis of DMD by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or \<5% of normal) on Western blot or immunostaining * Not using glucocorticoids for \>6 months * Male gender * Non-ambulant patients (walking distance less than 10 meters) * 10 to 16 years of age at time of screening * Ability to provide informed consent and to comply with study requirements Open label extension - Recent participation and completion of TAMDMD study Exclusion Criteria: * Known individual hypersensitivity or allergy to tamoxifen or other ingredients/excipients of IMP * Female gender * Use of tamoxifen or testosterone within the last 3 months * Known or suspected malignancy * Other chronic disease or clinically relevant limitation of renal, liver or heart function * Known or suspected non-compliance * Any injury which may impact functional testing, e.g. upper or lower limb fracture * Planned or expected spinal fusion surgery during the study period (as judged by the Investigator; i.e. due to rapid progressing scoliosis), previous spinal fusion surgery is allowed if it took place more than 6 months prior to screening. * Inability to follow the procedures of the study, e.g. due to language problems, psychological disorders of the participant/parents (as judged by the investigator) * Concomitant participation in any other interventional trial (and up to 3 months prior to screening) * Use of CYP2D6 inhibitors or of CYP3A4 inducers (apart from glucocorticoids), platelet aggregation inhibitors and coumarin-type anti-coagulants * Use of drugs metabolized by CYP2C9, such as phenprocoumon, phenytoin, warfarin, celecoxib, fluvastatin, ginko biloba, St. John's wort and sulfamethoxazol * Galactosemia (lack of galactose-1-phosphat-uridylyltransferase or UDP-galactose-4-epimerase or galactokinase; Fanconi-Bickel-syndrome); congenital lack of lactase; glucose-galactose malabsorption * Presence of one or more of the following eye disorders: cataract, retinopathia, optic neuropathy, alteration of the cornea * Presence of one or more of the following laboratory abnormalities: anaemia, thrombocytopenia, leukopenia, neutropenia or agranulocytosis Group A: * Glucocorticoid naïve patients * Start of glucocorticoid treatment or change in dosage \<6 month prior to screening (dosing adaptations according to weight change are allowed) Group B: * Glucocorticoid treated patients or patients that stopped glucocorticoid treatment \<6 month prior to screening * Assisted ventilation of any kind necessaryMALE2024-10-18T00:00:002017-10-102017-11-212022-12-192017-11-272022-12-202018-06-122022-07-252022-10-18trueFalseFalseA randomised, double blind, placebo controlled, 48-week clinical trial with a core population (group A) of 79 ambulant 6.5 to 12 years old Duchenne's muscular dystrophy (DMD) patients that are under stable standard treatment of care with glucocorticoids. Furthermore, the investigators plan to include 6-20 non-ambulant patients who do not receive glucocorticoids (as parallel group B), 10 to 16 years old, to obtain efficacy and safety data in a broader DMD population. All patients will receive 20 mg of tamoxifen (TAM) or placebo once daily during 48 weeks. An open label extension (OLE) trial for participants of the TAMDMD main study will be performed. All TAMDMD patients on TAM or placebo are offered to enter this OLE.Duchenne Muscular DystrophyPHASE393Reduction of disease progressionTo test if tamoxifen treatment, compared to placebo, reduces the progression of the disease in 6.5-12 years old ambulant DMD patients (Group A) by at least 50% (using the MFM D1 subscore as primary clinical endpoint).Baseline to week 48Muscle function measured by D2 MFM subscoreD2 MFM subscore from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by D3 MFM subscoreD3 MFM subscore from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by North Star Ambulatory AssessmentNorth Star Ambulatory Assessment from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by proximal upper limb functionProximal upper limb function from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by 6 minute walking distance in meter6 minute walking distance in meter from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by 10 meter walking time in seconds10 meter walking time in seconds from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle function measured by time to rise from lying on the floor / supine up in secondstime to rise from lying on the floor / supine up in seconds from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle force measured by quantitative muscle testing (using Myogrip)Quantitative muscle testing (using Myogrip) from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48Muscle Degeneration measured by MRIQuantitative muscle MRI including muscle fat fraction (MFF) and T2 times of thigh muscles visualised by MRI from baseline to week 48 under TAM treatment compared to placebo.Baseline to week 48False7816FalseFalseFalseFalse NCT013962394658-us-201Sarepta Therapeutics, Inc.INDUSTRYEfficacy Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy Patients2020-03COMPLETEDThis study is designed to assess the efficacy, safety, tolerability, and pharmacokinetics (PK) of AVI-4658 (eteplirsen) in both 50.0 mg/kg and 30.0 mg/kg doses administered over 24 weeks in subjects diagnosed with Duchenne muscular dystrophy (DMD).INTERVENTIONALMajor Inclusion and Exclusion Criteria: Inclusion Criteria: A subject must meet all of the following criteria to be eligible for this study. * Be a male with DMD and have an out-of-frame deletion(s) that may be corrected by skipping exon 51 \[e.g., deletions of exons 45-50, 47-50, 48-50, 49-50, 50, 52, 52-63\], as confirmed in a Clinical Laboratory Improvement Act-accredited laboratory by any of the peer-reviewed and published methodology that evaluates all exons (including, but not limited to, multiplex ligation-dependent probe, comparative genomic hybridization, and single condition amplification/internal primer analysis). * Be between the ages of 7 and 13 years, inclusive. * Have stable cardiac function and stable pulmonary function (forced vital capacity \[FVC\] ≥50% of predicted and not require supplemental oxygen) that, in the Investigator's opinion, is unlikely to decompensate over the duration of the study. * Be receiving treatment with oral corticosteroids and have been on a stable dose for at least 24 weeks before study entry. Subjects may be allowed to take other (non-RNA antisense or gene therapy) medication (including angiotensin-converting enzyme \[ACE\] inhibitors, β blockers, losartan potassium, and coenzyme Q) as long as they have been on a stable dose of the medication for 24 weeks before the screening visit (Visit 1) and the dose will remain constant throughout the study. * Have intact right and left biceps muscles or an alternative upper arm muscle group. * Achieve an average distance within 200m and 400m ±10% (i.e. within 180m and 440m) while walking independently over six minutes. * Have a left ventricular ejection fraction (LVEF) of \>40% based on the ECHO that is obtained at the screening visit (Visit 1). A subject who has abnormal ECHO findings but who has an LVEF of \>40% may be enrolled in the study at the Investigator's discretion; however, the subject must have been receiving stable doses of ACE inhibitors or β blockers for at least 24 weeks before study entry. * Have a parent(s) or legal guardian(s) who is able to understand and comply with the all of the study procedure requirements. * Be willing to provide informed assent and have a parent(s) or legal guardian(s) who is willing to provide written informed consent for the subject to participate in the study. Exclusion Criteria: A subject who meets any of the following criteria will be excluded from this study. * Use of any pharmacologic treatment, other than corticosteroids, that might have an effect on muscle strength or function within 12 weeks before study entry (e.g., growth hormone, anabolic steroids). * Previous treatment with the experimental agents eteplirsen, BMN-195, or PRO051. * Previous treatment with any other experimental agents or participation in any other DMD interventional clinical study within 12 weeks before entry into this study; including use of the shock training system or "STS," or planned use during this study. * Surgery within 3 months before study entry or planned surgery at any time during this study. * Presence of other clinically significant illness at the time of study entry, including significant renal dysfunction (as measured by urinary cystatin C, KIM-1, or urinary total protein), or average heart rate during screening Holter monitoring in excess of 110 bpm (unless subsequently treated and confirmed controlled and stable on a β-blocker) or QTc \>450 ms. * Use of any aminoglycoside antibiotic within 12 weeks before the screening visit (Visit 1) or need for use of an aminoglycoside antibiotic during the study (unless discussed and agreed with the Principal Investigator and medical monitor). * Prior or ongoing medical condition that, in the Investigator's opinion, could adversely affect the safety of the subject or that makes it unlikely that the course of treatment or follow-up would be completed or could impair the assessment of study results.MALE2024-10-18T00:00:002011-07-082011-07-152020-03-262011-07-182020-03-302011-072012-022012-06falseThis study is designed to assess the efficacy, safety, tolerability, and pharmacokinetics (PK) of AVI-4658 (eteplirsen) in both 50.0 mg/kg and 30.0 mg/kg doses administered over 24 weeks in subjects diagnosed with Duchenne muscular dystrophy (DMD).Duchenne Muscular DystrophyPHASE212Change in the Number (%) of Dystrophin Positive FibersThe primary efficacy endpoint will be based on the pre-treatment and post-treatment change in the number (%) of dystrophin positive fibers as measured in the muscle biopsy tissue on immunohistochemistry (IHC).After 12 weeks for 4 patients who received 50 mg/kg and 2 patients who received placebo. After 24 weeks for 4 patients who received 30 mg/kg and 2 patients who received placebo.Change From Baseline: 6 Minute Walk Test (6MWT) - Intent to Treat Population (ITT)A key secondary efficacy endpoint will be based on the pre-treatment and post-treatment Change from baseline: 6 Minute Walk Test (6MWT) - Intent to Treat population (ITT)24 weeksChange From Baseline: 6 Minute Walk Test (6MWT) - Modified Intent to Treat Population (mITT)A key secondary efficacy endpoint will be based on the pre-treatment and post-treatment of the 6-MWT distance. Change from baseline: 6 Minute Walk Test (6MWT) - modified Intent-to-Treat population (mITT).24 weeksFalse713TrueFalseTrueFalse NCT06328725EN001_POWERENCellINDUSTRYEvaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy2024-03NOT_YET_RECRUITINGA Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular DystrophyINTERVENTIONALInclusion Criteria: 1. Males aged between 6 and 11 years at the time of providing written consent. 2. Individuals exhibiting phenotypic signs of Duchenne Muscular Dystrophy (DMD), such as lower limb muscle weakness, a duck walk, or Gower's sign, and who are diagnosed with DMD following confirmation of a dystrophin gene mutation through genetic testing. 3. Participants who meet the Time to Stand Test (TTSTAND) criteria without the use of assistive devices or help from others during screening and baseline assessments: * Phase 1: Capable of completing the TTSTAND evaluation. * Phase 2: TTSTAND time of 10 seconds or less. 4. Participants with a 6-Minute Walk Test (6MWT) result of 75 meters or more at screening and baseline. 5. Individuals who meet the following laboratory test criteria at the time of screening and baseline: * Hemoglobin ≥10 g/dL * Platelet ≥50,000/μL * Serum albumin ≥2.5 g/dL * Gamma glutamyl transferase (γ-GT) and total bilirubin ≤ upper limit of normal (ULN) * Serum creatinine ≤ 1.5 x ULN 6. Participants who have been on a stable dose of glucocorticoids for at least 12 weeks prior to screening, with treatment maintained. Dosage adjustments for body weight changes are allowed. 7. Individuals who, along with their representatives when applicable, have voluntarily agreed in writing to participate in this clinical trial. Exclusion Criteria: 1. Individuals with confirmed comorbidities at the time of screening: * Left ventricular ejection fraction (LVEF) below 50%, as determined by echocardiography * Percent predicted forced vital capacity (FVC%) less than 35% * Positive for Hepatitis B surface antigen (HBsAg). However, individuals undergoing interferon or antiviral treatment can register * Positive for Hepatitis C virus antibody (HCV Ab). Registration is possible if the HCV ribonucleic acid (RNA) test result is negative * Positive for Human immunodeficiency virus (HIV) antibody * Comorbidities that are uncontrollable or require treatment that could affect the safety and efficacy evaluation of this clinical trial, based on the investigator's judgment 2. Individuals with confirmed treatment history at the time of screening: * Administration of cell therapy or gene therapy throughout life * Administer antisense oligonucleotide (e.g., exon skipping treatment) or stop- codon readthrough treatment (e.g., aminoglycoside, ataluren) within 24 weeks before screening. * Administration of the following medications within 12 weeks before screening: Idebenone, Resveratrol, Adenosine triphosphate * Administration of the following medications within 12 weeks before screening. However, registration is possible if the drug is being administered at a stable dose for at least 12 weeks before screening and the dose is expected to remain unchanged during the clinical trial period. Angiotensin-converting enzyme (ACE) inhibitor Angiotensin II receptor blocker (ARB) Beta-blocker Aldosterone antagonist Ivabradine Sacubitril Growth hormone Anabolic steroids * Major surgery within 12 weeks before screening or expected major surgery during the clinical trial period. * Use of other investigational products (or medical devices) within 4 weeks before screening. * Use of systemic immunosuppressants other than systemic glucocorticoids. 3. Individuals requiring mechanical ventilation during the day. 4. Persons with hypersensitivity to the components of the clinical investigational products. 5. Individuals unwilling to use appropriate contraception from the date of written consent to the termination visit: * Appropriate contraceptive methods are as follows, and use more than one method. * The use of hormonal contraceptives by the partner * Implantation of an intrauterine device or system in your partner * Sterilization or surgical procedures for you or your partner 6. Others who, in the investigator's discretion, are not willing or able to comply with the clinical trial procedures.MALE2024-10-18T00:00:002024-02-192024-03-182024-03-182024-03-252024-03-252024-032025-112025-11FalseFalseA Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular DystrophyDuchenne Muscular DystrophyPHASE1PHASE288<Phase 1> Adverse drug reactions related to dose limiting toxicity (DLT)Present the frequency and percentage of dose-limiting toxicity (DLT) occurrence across dose cohorts, along with detailed information on the types of DLTs.Up to 14 weeks<Phase 1> Adverse drug reactions related to discontinuation of clinical trial drug administrationPresent the frequency and percentage of dose-limiting toxicity (DLT) occurrence across dose cohorts, along with detailed information on the types of DLTs.Up to 14 weeks<Phase 2> Change in time to stand test (TTSTAND)Present the changes in time to stand test (TTSTAND) at the 48-week time point compared to baseline (Visit 2). Provide the subject count, mean, standard deviation, median, minimum, and maximum for the change in each treatment group. Analyze the change as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline TTSTAND values and age as fixed effects in the analysis.At 48 weeks compared to baseline (Visit 2)<Phase 1> Time to stand test (TTSTAND) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> TTSTAND velocity (1/TTSTAND) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> Time to run/walk 10 meters test (TTRW) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36,, and 48 weeks compared to baseline (Visit 2)<Phase 1> TTRW velocity (1/TTRW) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> North Star Ambulatory Assessment (NSAA) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> Time to climb 4 steps test (TTCLIMB) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> TTCLIMB velocity (1/TTCLIMB) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> 6-minute walk test (6MWT) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> Changes amount in muscle strength by regionThe changes in shoulder abduction, elbow flexion/extension, knee flexion/extension, and handgrip are evaluated using hand-held myometry. (Unit: lbs) Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 1> Changes amount in parameters related to pulmonary functionThrough spirometry testing, % predicted forced vital capacity (FVC%), forced vital capacity (FVC, unit L), forced expiratory volume in one second (FEV1), peak expiratory flow rate (PEFR), maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP). Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 12, 24, and 48 weeks compared to baseline (Visit 2)<Phase 1> Changes amount in parameters related to cardiac functionThrough echocardiography, changes in left ventricular ejection fraction (LVEF), fractional shortening (FS), and left ventricular end-diastolic diameter (LVEDd) are evaluated. Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.At 48 weeks compared to screening (Visit 1)<Phase 1> Change rate of creatine kinase (CK) at each visit after administration of investigational product compared to baseline (Visit 2)Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.From baseline<Phase 2> Time to stand test (TTSTAND) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, and 36 weeks compared to baseline (Visit 2)<Phase 2> TTSTAND velocity (1/TTSTAND) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> Time to run/walk 10 meters test (TTRW) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> TTRW velocity (1/TTRW) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> North Star Ambulatory Assessment (NSAA) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> Time to climb 4 steps test (TTCLIMB) changePresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> TTCLIMB velocity (1/TTCLIMB) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> 6-minute walk test (6MWT) change amountPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> Changes amount in muscle strength by regionPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)<Phase 2> Changes amount and rate of change in whole thigh muscle volume and index assessed by MRIPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 48 weeks compared to screening (Visit 1)<Phase 2> Changes amount in parameters related to pulmonary functionPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 12, 24, and 48 weeks compared to baseline (Visit 2)<Phase 2> Changes amount in parameters related to cardiac functionPresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 48 weeks compared to screening (Visit 1)<Phase 2> Change rate of creatine kinase (CK) at each visit after administration of investigational product compared to baseline (Visit 2)Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.From baseline<Phase 2> Pediatric Outcomes Data Collection Instrument (PODCI) item score and total score changePresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 24 and 48 weeks compared to baseline (Visit 2)<Phase 2> Pediatric Quality of Life inventory™ (PedsQL™) item scores and total score changePresent the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND ≤ 8 seconds / \> 8 seconds) as a fixed effect.At 24 and 48 weeks compared to baseline (Visit 2)<Phase 1> Adverse EventAfter the application of the investigational medicinal product in the clinical trial, provide the number of subjects, incidence rate, and number of occurrences for adverse events, drug-related adverse events, serious adverse events, serious drug-related adverse events, adverse events related to discontinuation of the investigational medicinal product, drug-related adverse events related to discontinuation of the investigational medicinal product, and injection-related adverse events, categorized by dosage group. Additionally, code the occurrences by system organ class (SOC) and preferred term (PT) using the Medical Dictionary for Regulatory Activities (MedDRA), and present the number of subjects, incidence rate, and number of occurrences for each dosage group according to SOC and PT.Up to 48weeks. However, adverse drug reactions that persist at the end of the clinical trial will be followed up until the possible adverse reactions are resolved or it is determined that further follow-up is not meaningful.<Phase 1> Laboratory examinationNumber of participants with clinically significant abnormalities in Laboratory parameters after EN001 administration. Hematological tests, Blood chemical tests, Blood coagulation test, Urine test, Serum virus test It is conducted through blood and urine collection, and the PI checks whether the test results are normal, abnormal, and clinically significant.Up to 48weeks. At Baseline and Week 4, tests are conducted before and within 4 hours after administration of the investigational drug, and PT INR and aPTT are performed only at the screening visit.<Phase 1> Vital signNumber of participants with clinically significant abnomalities in vital signs after EN001 administration. Vital Signs include blood pressure (mmHg), pulse (times/minute), respiratory rate (times/minute), and body temperature (℃) and will be assessed. For changes at each time point within each dosage group, present continuous variables with subject count, mean, standard deviation, median, minimum, and maximum. For categorical variables, provide frequency and percentage.Up to 48weeks.<Phase 2> Adverse EventAfter the administration of the investigational product in the clinical trial, provide the number of subjects, incidence rate, and number of occurrences for adverse events, drug-related adverse events, serious adverse events, serious drug-related adverse events, adverse events related to discontinuation of the investigational product, drug-related adverse events related to discontinuation of the investigational product, and injection-related adverse events, categorized by treatment group. Additionally, code the occurrences by system organ class (SOC) and preferred term (PT) using the Medical Dictionary for Regulatory Activities (MedDRA), and present the number of subjects, incidence rate, and number of occurrences for each treatment group according to SOC and PT.Up to 48weeks. However, adverse drug reactions that persist at the end of the clinical trial will be followed up until the possible adverse reactions are resolved or it is determined that further follow-up is not meaningful.<Phase 2> Laboratory examinationNumber of participants with clinically significant abnormalities in Laboratory parameters after EN001 administration. Hematological tests, Blood chemical tests, Blood coagulation test, Urine test, Serum virus test It is conducted through blood and urine collection, and the PI checks whether the test results are normal, abnormal, and clinically significant.Up to 48weeks. At Baseline and Week 4, tests are conducted before and within 4 hours after administration of the investigational drug, and PT INR and aPTT are performed only at the screening visit.<Phase 2> Vital signNumber of participants with clinically significant abnomalities in vital signs after EN001 administration. Vital Signs include blood pressure (mmHg), pulse (times/minute), respiratory rate (times/minute), and body temperature (℃) and will be assessed. For changes at each time point within each treatment group, present continuous variables with subject count, mean, standard deviation, median, minimum, and maximum. For categorical variables, provide frequency and percentage.Up to 48weeks.False611FalseFalseFalseFalse NCT02315339CTC11633ResMedINDUSTRYEuropean Home Mechanical Ventilation Registry2020-04TERMINATEDThe European Home Mechanical Ventilation Registry (EHMVR) will enable a thorough evaluation of HMV by documenting the characteristics of HMV patients and their treatment. This will facilitate a prospective, observational study to identify the primary indications for HMV, describe patterns of HMV use in European countries, and characterize changes in the initiation and utilization of HMV over time. The registry will target all adult individuals who have an indication for HMV. In the EHMVR, patient data from routine clinical care will be documented using an electronic case report form (eCRF). The eCRF will record: patient demographic data; diagnostic information (including primary diagnosis, 6-minute walk time, the presence of depression, and quality of life); blood gases; ventilation treatment (including type of ventilator, modes and settings, interfaces used); follow-up data (including failure rates, side effects, technical issues). An initial Pilot Phase will be launched with the aim to enrol at least 200 patients over a 6-month period to determine the feasibility of the registry. Steering committee members and their institutions will be the main participants in the Pilot Phase. After completion of the Pilot Phase, the registry will be expanded across Europe with the goal of enrolling approximately 10,000 patients over 5 years.OBSERVATIONALInclusion Criteria: * Patients aged ≥18 years with an indication to receive HMV as part of routine clinical care * Patient is able to fully understand the study information and is willing to give informed consent * Patient, or the patient's legal guardian, signing the consent form Exclusion Criteria: - No exclusion criteria have been defined because only data from routine clinical care are needed, plus a separate healthcare questionnaireALL2024-10-18T00:00:002014-10-062014-12-082020-04-082014-12-112020-04-092014-082019-012019-01falseThe European Home Mechanical Ventilation Registry (EHMVR) will enable a thorough evaluation of HMV by documenting the characteristics of HMV patients and their treatment. This will facilitate a prospective, observational study to identify the primary indications for HMV, describe patterns of HMV use in European countries, and characterize changes in the initiation and utilization of HMV over time. The registry will target all adult individuals who have an indication for HMV. In the EHMVR, patient data from routine clinical care will be documented using an electronic case report form (eCRF). The eCRF will record: patient demographic data; diagnostic information (including primary diagnosis, 6-minute walk time, the presence of depression, and quality of life); blood gases; ventilation treatment (including type of ventilator, modes and settings, interfaces used); follow-up data (including failure rates, side effects, technical issues). An initial Pilot Phase will be launched with the aim to enrol at least 200 patients over a 6-month period to determine the feasibility of the registry. Steering committee members and their institutions will be the main participants in the Pilot Phase. After completion of the Pilot Phase, the registry will be expanded across Europe with the goal of enrolling approximately 10,000 patients over 5 years.Pulmonary Disease, Chronic Obstructive;Amyotrophic Lateral Sclerosis;Spinal Cord Injury;Muscular Dystrophies;Obesity Hypoventilation Syndrome;Kyphoscoliosis;Congenital Central Hypoventilation Syndrome;Duchenne Muscular Dystrophy;Myopathies;Myotonic Dystrophy37Determine the mortality rate and the number of hospital readmissionsevery year (2014 to 2019), up to 5 yearsDetermine the effects of home mechanical ventilation on health-related quality of life using the EQ-5D and the Severe Respiratory Insufficiency questionnaires quality of lifeevery year (2014 to 2019), up to 5 yearsFalseFalseFalseFalseFalse NCT02036463CINRG0513Ann & Robert H Lurie Children's Hospital of ChicagoOTHERA Trial of Chronotherapy of Corticosteroids in Duchenne Muscular Dystrophy2015-02WITHDRAWNDuchenne muscular dystrophy (DMD) is a progressive neuromuscular disease for which no curative treatment has yet been identified, making it important to slow progression and improve the quality of life among affected boys and young men. Treatment with corticosteroids is standard of care for patients with DMD five years old and older, due to the robust observation that this intervention lengthens the interval prior to loss of ambulation but is associated with many side effects. This clinical trial will be conducted in the youngest age group able to receive corticosteroids orally and on whom study outcomes are measurable, ages 3 to 7 years. This is a randomized, double blinded, double masked, placebo-controlled clinical trial that will explore whether better synchronization of corticosteroid administration with the circadian rhythm will provide improved tolerability and at least comparable efficacy to current standards in which corticosteroids are always given in the morning. Furthermore, the trial provides a unique opportunity to rigorously evaluate corticosteroid effects in the young DMD patient, both for efficacy as compared to placebo and as a study of the impact of corticosteroid chronotherapy, or delayed release, on increased tolerability over standard therapy. The main hypothesis is that synchronization of the timing of corticosteroid dosing will improve medication tolerability in children, while maintaining (non-inferiority) the efficacy of corticosteroid. The study also offers a unique opportunity to measure several biomarkers as well as novel genetic modifiers that may further impact the response to corticosteroid in DMD.INTERVENTIONALInclusion Criteria: * Genetically confirmed dystrophin mutation compatible with DMD phenotype. Specifically, gene deletion test positive (missing one or more exons) in the central rod domain (exons 25-60) of dystrophin, where reading frame can be predicted as 'out-of-frame' OR showing complete absence of dystrophin by muscle biopsy. * Ages between 3 years and \< 7 years * Steroid-naïve * Signed informed consent Exclusion Criteria: * Treatment with CoenzymeQ10, creatine, amino acid supplements within 3 months of study entry * Treatment with cardiac medications: beta-blockers, digoxin, and carvedilol * Existing medical condition or physical disability that would alter subject's motor development * Existing medical condition that precludes the use of corticosteroids * Inability to swallow sample tablet in bite of soft food\* * Investigator assessment that participant or family will not be compliant with treatment or study procedures * Been on investigational DMD medication for the past 6 monthsMALE2024-10-18T00:00:002014-01-062014-01-132015-02-132014-01-152015-02-182014-112015-022015-02trueDuchenne muscular dystrophy (DMD) is a progressive neuromuscular disease for which no curative treatment has yet been identified, making it important to slow progression and improve the quality of life among affected boys and young men. Treatment with corticosteroids is standard of care for patients with DMD five years old and older, due to the robust observation that this intervention lengthens the interval prior to loss of ambulation but is associated with many side effects. This clinical trial will be conducted in the youngest age group able to receive corticosteroids orally and on whom study outcomes are measurable, ages 3 to 7 years. This is a randomized, double blinded, double masked, placebo-controlled clinical trial that will explore whether better synchronization of corticosteroid administration with the circadian rhythm will provide improved tolerability and at least comparable efficacy to current standards in which corticosteroids are always given in the morning. Furthermore, the trial provides a unique opportunity to rigorously evaluate corticosteroid effects in the young DMD patient, both for efficacy as compared to placebo and as a study of the impact of corticosteroid chronotherapy, or delayed release, on increased tolerability over standard therapy. The main hypothesis is that synchronization of the timing of corticosteroid dosing will improve medication tolerability in children, while maintaining (non-inferiority) the efficacy of corticosteroid. The study also offers a unique opportunity to measure several biomarkers as well as novel genetic modifiers that may further impact the response to corticosteroid in DMD.Duchenne Muscular Dystrophy (DMD)PHASE20SafetyThe primary outcome will measure safety and tolerability by tabulating number of adverse events occuring in patients in each treatment group. Adverse events are specified in the protocol and relate to excess weight gain, inadequate linear growth, elevated blood pressure, worsening scores on behavior scales, declining heart rate variability and abnormalities of circadian rhythm of sympathetic tone.18 monthsTime to walk/run 50 metersThis test will measure the time it will take to run/walk 50 meters. It has not been typically used in clinical trials as a timed test measure, however, may be a more sensitive test measure in the very young cohort to assess functional strength as it measures a longer distance to run compared to the 10 meter walk. Preliminary analysis in a small pilot cohort indicates that it is better correlated with other functional assessments such as the North Star Ambulatory Assessment.18 monthsNorth Star Ambulatory Assessment (NSAA)The NSAA is a clinician rated 17-item functional scale originally designed for ambulant boys with DMD who are able to ambulate at least 10 meters. This evaluation tool assesses functional activities including standing, getting up from the floor, negotiating steps, hopping, and running. The assessment is based on a 3-point rating scale of 2= ability to perform the test normally, 1= modified method or assistance to perform test, 0=unable to perform the test. Thus, total score can range from 0 (completely non-ambulant) to 34 (no impairment) on these assessments. NSAA has shown good reliability and validity in multi-center studies as well as good clinical validity demonstrated with Rasch analysis.18 monthsFalse36TrueFalseFalseFalse NCT02081625NCNP/DMT01National Center of Neurology and Psychiatry, JapanOTHERExploratory Study of NS-065/NCNP-01 in DMD2020-02COMPLETEDThis study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-065/NCNP-01 in subjects diagnosed with Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: Subject with Duchenne muscular dystrophy eligible for enrolment in the study must meet all of the following criteria: 1. Has an out of frame deletion(s) that could be corrected by skipping exon 53 as confirmed by any of methodology at the time of visit 1. If not confirmed by any of methodology that evaluates the relative copy number of all exons (i.e. MLPA, CGH etc), must be confirmed through these techniques by the time of visit 4. 2. DNA sequencing of exon 53 confirms that no DNA polymorphisms occur that could compromise duplex formation between NS-065/NCNP-01 and pre-mRNA. 3. There is confirmation of detection of dystrophin mRNA with skipping of exon 53 and dystrophin production after in vitro exposure of NS-065/NCNP-01 to subject-derived cells. 4. Male and \>= 5 years and \< 18 years of age at the time of obtaining informed consent and/or assent. 5. Able to give informed consent in writing signed by parent(s) or legal guardian who is able to understand all of the study procedure requirements. If applicable, able to give informed assent in writing signed by the subject. 6. Life expectancy of at least 1 year 7. Unable to ambulate. Ambulant subject can be enrolled according to the circumstances. 8. Have intact muscles, which have adequate quality for biopsy. (No lacks or severe atrophy of tibialis anterior muscle) 9. QTc \<450 msec (based on 12-lead ECGs), or \<480 msec for subject with Bundle Branch Block. 10. If taking glucocorticosteroids, no significant change in total daily dosage or dosing regimen after the time of visit 1. Exclusion Criteria: Subject with Duchenne muscular dystrophy meeting any of the following criteria must not be enrolled in the study: 1. Has participated in other pharmacological clinical trial that might recover dystrophin protein by the readthrough or the exon-skipping therapy, and/or upregulate the dystrophin-associated proteins such as utrophin. 2. A forced vital capacity (FVC) \< 50% of predicted. 3. A left ventricular ejection fraction (EF) \< 40% or fractional shortening (FS) \< 25% based on echocardiogram (ECHO). 4. Surgery within the last 3 months prior to the first anticipated administration of study medication or planned for anytime during the duration of the study. 5. Positive hepatitis B surface antigen (HbsAg), hepatitis C antibody test (HCV), or human immunodeficiency virus (HIV) test at screening. 6. Current diagnosis of any immune deficiency or autoimmune disease. 7. Current diagnosis of any active or uncontrolled infection, cardiomyopathy, or liver or renal disease. 8. Use of any other investigational agents and/or experimental agents within 3 months prior to the first anticipated administration of study medication. 9. History of any severe drug allergy. 10. Unable to give informed consent about using adequate contraception from the first administration until at least 6 months after the last dose of study medication, by parent(s) or legal guardian. 11. Subject considered by the investigator (or sub-investigator), for any reason, to be an unsuitable candidate for the study. -MALE2024-10-18T00:00:002014-03-052014-03-052020-02-242014-03-072020-02-262013-062014-112015-08falseThis study is designed to assess the safety, tolerability, efficacy and pharmacokinetics (PK) of NS-065/NCNP-01 in subjects diagnosed with Duchenne muscular dystrophy (DMD).Duchenne Muscular DystrophyPHASE110Safety and tolerability (adverse event and adverse drug reaction)Up to 15-17 weeks (12 weeks treatment period and 3-5 weeks follow up period)Expression of dystrophin proteinAt 14-15 weeks (2-3 week after from 12 weeks treatment period)Detection of exon53 skipped mRNA of dystrophinAt 14-15 weeks (2-3 week after from 12 weeks treatment period)NS-065/NCNP-01 concentration of the blood plasma12 weeksNS-065/NCNP-01 concentration of the urine12 weeksSerum Creatine kinase concentration14 weeksFalse518FalseFalseFalseFalse NCT05670730AOC 1044-CS1Avidity Biosciences, Inc.INDUSTRYStudy of AOC 1044 in Healthy Adult Volunteers and Participants with Duchenne Muscular Dystrophy (DMD) Mutations Amenable to Exon 44 Skipping2024-09ACTIVE_NOT_RECRUITINGAOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants with DMD mutations amenable to exon 44 skipping. Part A is a single dose design with multiple cohorts (dose levels) in healthy adult volunteers. Part B is a multiple-ascending dose design with 3 cohorts (dose levels) in participants with Duchenne.INTERVENTIONALPart A: Key Inclusion Criteria: * Aged 18 to 55 years, inclusive, at the time of informed consent * Body mass index (BMI) of 18.5 to 32.0 kg/m2 Key Exclusion Criteria: * Clinically significant abnormalities in laboratory results, ECGs, or vitals * Current or recent use of prescription or nonprescription drugs * Positive drug/alcohol test at Screening or Day -1 * Elevated blood pressure (BP) \>130/80 mmHg at Screening * Participation in a clinical study in which an investigational product was received within 1 month of screening or 5 half-lives of the investigational product * Blood or plasma donation within 16 weeks of planned AOC 1044 administration Note: Other protocol defined Inclusion/Exclusion criteria may apply Part B: Key Inclusion Criteria: * Aged 7 to 27 years, inclusive, at the time of informed consent * Clinical diagnosis of DMD or clear onset of DMD symptoms at or before the age of 6 years * Confirmation of DMD gene mutation amenable to exon 44 skipping * Weight ≥ 23 kg * Ambulatory or non-ambulatory * Ambulatory participants: LVEF ≥50% and FVC≥50% * Non-ambulatory participants: LVEF ≥45% and FVC≥40% * PUL 2.0 entry item A ≥3 * If on corticosteroids, stable dose for 30 days before screening and throughout the study Key Exclusion Criteria: * Biceps brachii muscles unsuitable for biopsy * Serum hemoglobin \< lower limit of normal * Uncontrolled hypertension or diabetes * Prior treatment with any cell or gene therapy * Prior treatment with another exon 44 skipping agent within 6 months prior to informed consent * Recently treated with an investigational drug * History of multiple drug allergiesMALE2024-10-18T00:00:002022-12-062023-01-022024-09-202023-01-042024-09-232022-11-092025-012025-01trueTrueFalseAOC 1044-CS1 (EXPLORE44) is a Phase 1/2 study to evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamic effects of single and multiple ascending doses of AOC 1044 in healthy adult volunteers and participants with DMD mutations amenable to exon 44 skipping. Part A is a single dose design with multiple cohorts (dose levels) in healthy adult volunteers. Part B is a multiple-ascending dose design with 3 cohorts (dose levels) in participants with Duchenne.Duchenne Muscular Dystrophy;Exon 44PHASE1PHASE264Incidence of treatment-emergent adverse events (TEAEs)Through study completion, up to Day 85 (Part A) or Day 169 (Part B)Plasma pharmacokinetic (PK) parametersMaximum plasma concentration (Cmax) of AOC 1044Through Week 8 (Part A); Through Week 12 (Part B)Plasma pharmacokinetic (PK) parametersTerminal half-life (T1/2) of AOC 1044Through Week 8 (Part A); Through Week 12 (Part B)Plasma pharmacokinetic (PK) parametersArea under the concentration-time curve (AUC) of AOC 1044Through Week 8 (Part A); Through Week 12 (Part B)PMO44 levels in skeletal muscle tissueThrough Week 4 (Part A); Through Week 16 (Part B)Urine pharmacokinetic parametersFraction of PMO44 excreted in urineDay 1-2 (0-24 hours after first dose) (Part A); Day 1-2 (0-24 hours after first dose) (Part B)Change from baseline in exon skipping as measured in skeletal muscle (Part B only)Baseline, Week 16Absolute change from baseline in dystrophin protein level in skeletal muscle (Part B only)Baseline, Week 16Percentage change from baseline in dystrophin protein level in skeletal muscle (Part B only)Baseline, Week 16True755FalseFalseFalseTrue NCT02704325GALGT2 for DMDNationwide Children's HospitalOTHERGene Transfer Clinical Trial for Duchenne Muscular Dystrophy Using rAAVrh74.MCK.GALGT22018-02WITHDRAWNThe proposed clinical trial study of rAAVrh74.MCK.GALGT2 for duchenne muscular dystrophy (DMD) patients that will involve direct intramuscular injection to the extensor digitorum brevis muscle (EDB).INTERVENTIONALInclusion Criteria: * Nonambulant subjects, age 9 or older * Confirmed mutation in the DMD gene using a clinically accepted technique that completely defines the mutation * A magnetic resonance image of the EDB showing preservation of sufficient muscle mass to permit transfection * Males of any ethnic group will be eligible * Ability to cooperate with all study procedures * Willingness of sexually active subjects with reproductive capacity to practice reliable method of contraception (If appropriate). * Stable dose of corticosteroid therapy (including either prednisone or deflazacort and their generic forms) for 12 weeks prior to gene transfer Exclusion Criteria: * Active viral infection based on clinical observations. * The presence of a DMD mutation without weakness or loss of function * Symptoms or signs of cardiomyopathy, including: * Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs * Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis A, B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL * Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer * Subjects with rAAVrh74 binding antibody titers ≥ 1:400 as determined by ELISA immunoassay * Presence of circulating anti-Sda antibodies as determined by study approved laboratory. * Abnormal laboratory values in the clinically significant range, based upon normal values in the Nationwide Children's Hospital LaboratoryMALE2024-10-18T00:00:002015-12-232016-03-042018-02-022016-03-102018-02-062016-042018-072020-02trueTrueFalseThe proposed clinical trial study of rAAVrh74.MCK.GALGT2 for duchenne muscular dystrophy (DMD) patients that will involve direct intramuscular injection to the extensor digitorum brevis muscle (EDB).Duchenne Muscular DystrophyPHASE1PHASE20Treatment related toxicitiesBased on the development of unacceptable toxicity defined as the occurrence of any one Grade III or higher treatment-related toxicities.2 yearsExpression of GALGT2 demonstrated with anti-CT epitope antibodies.6 or 12 weeksGALGT2 protein expression quantified by western blot and assessed by densitometry6 or 12 weeksTransduction efficiency measured by qPCR of the GALGT transgene from muscle, and expressed as vector genomes normalized to a genomic single-copy control.6 or 12 weeksNumber of fibers containing central nuclei compared between muscles by paired t-tests6 or 12 weeksDystrophin expression demonstrated with antibodies to N-terminal, C-terminal, and rod domains6 or 12 weeksUtrophin expression6 or 12 weeksLeukocyte markers including CD45, CD3, CD4, CD8, and MAC 3876 or 12 weeksMuscle will be examined for histological appearance6 or 12 weeksAntibodies to rAAVrh74 along with PBMC ELISpots to both rAAVrh74 capsid and GALGT protein will be evaluated at different time points during the study6 or 12 weeksFalse9TrueFalseFalseTrue NCT02439216CAT-1004-201Catabasis PharmaceuticalsINDUSTRYPhase 1/2 Study in Boys With Duchenne Muscular Dystrophy2022-09COMPLETEDThe MoveDMD study is a 3-part, Phase 1/2, multi-site study to evaluate the safety, efficacy, pharmacokinetics (PK) and pharmacodynamics (PD) of edasalonexent (also known as CAT-1004) in pediatric patients with a genetically confirmed diagnosis of DMD. Male patients from ≥4 to \<8 years of age will be enrolled. Edasalonexent is an orally administered small molecule targeted to inhibit activated NF-κB, a molecule that is activated from infancy in DMD and which is central to causing muscle damage and preventing muscle regeneration. Data on magnetic resonance imaging of the lower and upper leg muscles, physical function (including timed function tests) and muscle strength will be studied.INTERVENTIONALInclusion Criteria: * Written informed consent from parent or legal guardian prior to participation and, for patients who are 7 years of age, written assent from patient * Diagnosis of DMD based on a clinical phenotype with increased serum CK and the presence of a mutation in the dystrophin gene known to be associated with a DMD phenotype * Ability to walk independently (assistive devices are permitted) * Adequate immunization for influenza and varicella Exclusion Criteria: * Use of corticosteroids within prior 6 months of treatment initiation or planning to initiate steroid therapy within the next 6 months * Other prior or ongoing significant medical conditions * Exposure to another investigational drug (such as eteplirsen or idebenone) within 28 days prior to start of study treatment or ongoing participation in any other therapeutic clinical trial * Note: There are separate criteria for patients who participated in Part A versus newly enrolling patients. New patients must meet all of the Part A entry criteria to participate in Part B. Patients who participated in Part A must meet the following criteria to participate in Part B: * Completed Part A * Continue to meet all of the Part A entry criteria, including an absence of safety concerns (however, patients may be ≥8 years of age) There are no entry criteria for Part C; all patients who complete Part B will automatically continue in Part CMALE2024-10-18T00:00:002015-04-292015-05-062022-09-202015-05-082022-09-232016-042017-01-122019-08trueThe MoveDMD study is a 3-part, Phase 1/2, multi-site study to evaluate the safety, efficacy, pharmacokinetics (PK) and pharmacodynamics (PD) of edasalonexent (also known as CAT-1004) in pediatric patients with a genetically confirmed diagnosis of DMD. Male patients from ≥4 to \<8 years of age will be enrolled. Edasalonexent is an orally administered small molecule targeted to inhibit activated NF-κB, a molecule that is activated from infancy in DMD and which is central to causing muscle damage and preventing muscle regeneration. Data on magnetic resonance imaging of the lower and upper leg muscles, physical function (including timed function tests) and muscle strength will be studied.Muscular Dystrophy, DuchennePHASE1PHASE231Change From Baseline to Week 12 in the Lower Leg Composite of the MRI T2 Relaxation Time (LLC5-T2) - Part BThe LLC5-T2 calculated from the unweighted average of the T2 relaxation times of all 5 lower leg muscles for each patient at each evaluation (the medial gastrocnemius, peroneals, soleus, tibialis anterior, and tibialis posterior muscles). Increases in LLC5-T2 relaxation time indicate muscle damage, inflammation, edema, and fat infiltration and are highly correlated with muscle fatBaseline to Week 12Change From Baseline in the Speed of Completing the 10-meter Walk/Run Test (10MWT) at Week 12 - Part B and Part CThe 10MWT determines the speed to walk a distance of 10 meters. The initial measurement was made in seconds and the speed of completing the test (i.e., calculated as the reciprocals of the time to complete; speed=1/time) is provided as the measure. For patients who are not able to complete the test, the speed of 0 will be imputed.Baseline to Week 12Change From Baseline in the Speed of Completing the 4-Stairs Climb Task at Week 12 - Part B and Part CThe 4-stair climb test determines the speed to climb 4 standard steps. The initial measurement was made in seconds and the speed of completing the test (i.e., calculated as the reciprocals of the time to complete; speed=1/time) is provided as the measure. For patients who are not able to complete the test, the speed of 0 will be imputed.Baseline to Week 12Change From Baseline in the Speed of Completing the Stand From Supine Task at Week 12 - Part B and Part CThe stand from supine test determines the speed to stand from a supine position. The initial measurement was made in seconds and the speed of completing the test (i.e., calculated as the reciprocals of the time to complete; speed=1/time) is provided as the measure. For patients who are not able to complete the test, the speed of 0 will be imputed.Baseline to Week 12Safety and Tolerability Measured by Number of Treatment- Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs).A TEAE was any adverse event (AE) that started during or after the first dose of IP through the end of the safety follow-up period. Part B TEAEs were those that started on or after the first dose date in Part B through the date of Week 12 clinic dose. TEAEs for the Part C (Active B or C) analysis were those that started on or after the first dose date of active treatment in Part B or Part C. Drug related AEs included those marked as "Related" or "Possibly Related" to the study treatment.Screening to Week 152False47FalseFalseFalseFalse NCT05135663NS089/NCNP02-P2OENippon Shinyaku Co., Ltd.INDUSTRYExtension Study of NS-089/NCNP-02 in DMD2023-03ACTIVE_NOT_RECRUITINGThis is the extension study of NS-089/NCNP-02 (Study NCNP/DMT02), which is designed to assess the safety, tolerability and efficacy of NS-089/NCNP-02 in patients with Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: 1. Patient completed Study NCNP/DMT02 Exclusion Criteria: 1. Patient had any serious adverse events in Study NCNP/DMT02 that, in the opinion of the Investigator and/or Sponsor, was probably or definitely related to NS-089/NCNP-02 use and precludes safe use of NS-089/NCNP-02 for the patient in this study. 2. Patient had a treatment which was made for the purpose of dystrophin or dystrophin-related protein induction after completion of Study NCNP/DMT02. 3. Patient took any other investigational drugs after completion of Study NCNP/DMT02. 4. Patient was judged by the investigator and/or the Sponsor that it was not appropriate to participate in the extension study for other reasons.MALE2024-10-18T00:00:002021-10-052021-11-162023-03-012021-11-262023-03-032021-06-232026-01-312026-07-31FalseFalseThis is the extension study of NS-089/NCNP-02 (Study NCNP/DMT02), which is designed to assess the safety, tolerability and efficacy of NS-089/NCNP-02 in patients with Duchenne muscular dystrophy (DMD).Duchenne Muscular Dystrophy (DMD)PHASE26Incidence of adverse eventsUp to Week 247Expression of dystrophin protein (Western blot)Week 99Percentage of exon 44-skipped mRNA of dystrophinWeek 99North Star Ambulatory Assessment (NSAA)Up to Week 243Time to stand testUp to Week 243Time to run/walk 10 meters testUp to Week 243Six-minute walk test/Two-minute walk testUp to Week 243Timed Up & Go testUp to Week 243Quantitative muscle strength assessmentUp to Week 243Performance of Upper Limb testUp to Week 243Change in serum creatine kinase concentration from baselineUp to Week 243FalseFalseFalseFalseFalse NCT04821063ITF/2357/54ItalfarmacoINDUSTRYPlacebo-Corrected Effects of Therapeutic Dose (100 mg) and Supratherapeutic Dose (300 mg) of ITF2357 (Givinostat) and Moxifloxacin on QT/QTC Interval2023-04COMPLETEDThe study will evaluate the effect of a therapeutic dose and a supratherapeutic dose of ITF2357 on the QT/QTc interval.INTERVENTIONALInclusion Criteria: 1. Male or female, non-smoker (no use of tobacco or nicotine products within 3 months prior to screening), greater than or equal to (\>=) 18 and less than or equal to (\<=) 55 years of age, with body mass index (BMI) greater than (\>) 18.5 and less than (\<) 30.0 kilograms per meter square (kg/m\^2) and body weight \>=55 kilograms (kg) and \<=100 kg for females and body weight \>=60 kg and \<=100 kg for males. 2. Healthy as defined by: 1. The absence of clinically significant illness and major surgery within 4 weeks prior to dosing. Participants vomiting within 24 hours pre-dose will be carefully evaluated for upcoming illness/disease. Inclusion pre-dosing of the patient in the study is at the discretion of the Investigator, depending on his/her clinical judgement. 2. The absence of clinically significant history of neurological, endocrinal, cardiovascular, pulmonary, hematological, immunologic, psychiatric, gastrointestinal, renal, hepatic, and metabolic disease. 3. Non-childbearing potential female defined as: 1. Post-menopausal female (absence of menses for 12 months prior to the first study drug administration, bilateral oophorectomy or hysterectomy with bilateral oophorectomy at least 6 months prior to the first study drug administration); or 2. Surgically sterile female (hysterectomy or tubal ligation at least 6 months prior to drug administration). 4. Females of childbearing potential who are sexually active with a male partner must be willing to use one of the following acceptable contraceptive methods throughout the study and for at least 90 days after the last study drug administration: 1. Simultaneous use of intra-uterine contraceptive device, without hormone release system placed at least 4 weeks prior to study drug administration, and condom for the male partner; 2. Simultaneous use of diaphragm or cervical cap with intravaginally applied spermicide and male condom for the male partner, started at least 21 days prior to study drug administration; 5. Male participants who are not vasectomized for at least 6 months, and who are sexually active with a female partner of childbearing potential (childbearing potential females are defined as women that are neither post-menopausal nor surgically sterile) must be willing to use one of the following acceptable contraceptive methods from the first study drug administration until at least 90 days after the last study drug administration: 1. Simultaneous use of a male condom and, for the female partner, hormonal contraceptives used since at least 4 weeks or intra-uterine contraceptive device placed since at least 4 weeks; 2. Simultaneous use of a male condom and, for the female partner, a diaphragm or cervical cap with intravaginally applied spermicide. 6. Male participants (including men who have had a vasectomy) with a pregnant partner must agree to use a condom from the first study drug administration until at least 90 days after the last study drug administration. 7. Male participants must be willing not to donate sperm until 90 days following the last study drug administration. 8. Female participants must be willing not to donate ovules until 90 days following the last study drug administration. 9. Participant's written informed consent obtained prior to any study-related procedure. 10. Willingness and capability to comply with the requirements of the study and ability to understand the study procedures and the risks involved. 11. Willing to take out dentures and mouth piercings for study procedures. Exclusion Criteria: 1. Any clinically significant abnormality at physical examination, clinically significant abnormal laboratory test results or positive test for human immunodeficiency virus (HIV), hepatitis B, or hepatitis C found during medical screening. 2. Clinically significant vital sign abnormalities (systolic blood pressure lower than 90 or over 140 millimeter of mercury \[mmHg\], diastolic blood pressure lower than 60 or over 90 mmHg, or heart rate less than 40 or over 100 beats per minute \[bpm\]) at screening. For eligibility purposes, not the mean value, but the two single measurements will be considered. 3. Any of the following abnormalities on 12-lead ECG at screening. PR (PR interval) \>210 millisecond (msec); QRS (QRS complex) \>120 msec; QTcF \>450 msec; any abnormality of cardiac rhythm other than sinus arrhythmia; abnormality of T-wave morphology that will impair the ability to measure the QT interval reliably. The averaged value of three ECGs 5 minutes apart from each other will be used; evaluations have to be used for the evaluation of the QTc interval requested by this exclusion criteria. 4. Participants with history of sustained and non-sustained cardiac arrhythmias (ECG demonstrated), participants with a family history of sudden cardiac death and participants with a history of additional risk factors for TdP, heart failure, hypokalemia, LQTS). 5. Any of the following abnormal laboratory test values at screening or at baseline (Day -1) of Period 1: 1. Platelet count \<125\*10\^9 per liter (/L) 2. Absolute neutrophil count \<1.2\*10\^9/L 6. Participants who have cardiovascular condition such as, but not limited to unstable ischemic heart disease, New York Heart Association (NYHA) Class III/IV left ventricular failure, acute ischemic heart disease in the last year prior to study screening, which may impact the safety of the participant or the evaluation of the result of the study according to the Investigator's judgment; cardiovascular conditions should be discarded based on the results obtained on the ECG, medical examination and routine lab test. 7. Positive urine drug screen, alcohol breath test or urine cotinine test at screening or at baseline (Day -1). 8. History of anaphylaxis reaction or clinically significant drug hypersensitivity reaction (e.g., angioedema, Stevens-Johnson syndrome, Acute Generalized Exanthematous Pustulosis, Drug-induced hypersensitivity syndrome, Drug-induced neutropenia). 9. History of allergic reactions to ITF2357, histone deacetylases (HDAC) inhibitors, or other related drugs, moxifloxacin, other quinolones, or to any excipient in the formulation. 10. Positive pregnancy test at screening or at baseline (Day -1). 11. Participants with a sorbitol intolerance or sorbitol malabsorption or have fructose intolerance. 12. Current or recent (within 3 months of study drug administration) clinically significant gastrointestinal disease that can interfere with drug absorption. 13. Gastrointestinal surgery that interferes with physiological absorption and motility (i.e., gastric bypass, duodenectomy) or gastric bands. 14. History of significant alcohol abuse within 1 year prior to screening or regular use of alcohol within 6 months prior to the screening visit (more than 14 units of alcohol per week \[1 unit = 150 milliliter \[mL\] of wine, 360 mL of beer, or 45 mL of 40 percent \[%\] alcohol\]). 15. History of significant drug abuse within 1 year prior to screening or use of soft drugs (such as marijuana) within 3 months prior to the screening visit or hard drugs (such as cocaine, phencyclidine \[PCP\], crack, opioid derivatives including heroin, and amphetamine derivatives) within 1 year prior to screening. 16. Use of ITF2357 for a medical condition or in the context of another clinical trial within a period of 30 days prior to the first dosing. 17. Participation in a clinical research study involving the administration of an investigational or marketed drug or device within 30 days prior to the first dosing, administration of a biological product in the context of a clinical research study within 90 days prior to the first dosing, or concomitant participation in an investigational study involving no drug or device administration. 18. Use of medications for the timeframes specified below, with the exception of medications exempted by the Investigator on a case-by-case basis because they are judged unlikely to affect the pharmacokinetic profile of the study drug or participant safety (e.g., topical drug products without significant systemic absorption): 1. Prescription medications within 14 days prior to the first dosing; 2. OTC products (with the exception of the occasional use of acetaminophen \[up to 2 grams \[g\] daily\]) and natural health products (including herbal remedies, homeopathic and traditional medicines, probiotics, food supplements such as vitamins, minerals, amino acids, essential fatty acids, and protein supplements used in sports) within 7 days prior to the first dosing; 3. Depot injection or implant of any drug within 3 months prior to the first dosing; 4. Any drugs known to induce or inhibit hepatic drug metabolism (including St. John's wort) within 30 days prior to the first dosing. 19. Donation of plasma within 7 days prior to dosing. Donation or loss of blood (excluding volume drawn at screening) of 50 mL to 499 mL of blood within 30 days, or more than 499 mL within 56 days prior to the first dosing. 20. Breast-feeding participant. 21. Inability to be venipunctured and/or tolerate catheter venous access; 22. Inability or difficulty to swallow tablets or suspension. 23. Any reason which, in the opinion of the Investigator, would prevent the participant from participating in the study. 24. History or presence of other diseases, metabolic dysfunctions, physical examination findings, or any clinically relevant abnormal laboratory value at screening suggesting an unknown disease and requiring further clinical investigation or which may impact the safety of the participant or the evaluation of the result of the study according to the Investigator's judgment.ALL2024-10-18T00:00:002021-03-262021-03-262023-04-102021-03-292024-01-112021-04-132021-06-182021-06-18falseTrueFalseThe study will evaluate the effect of a therapeutic dose and a supratherapeutic dose of ITF2357 on the QT/QTc interval.Duchenne and Becker Muscular Dystrophy;Polycytemia VeraPHASE131Placebo-corrected Change From Baseline in Fridericia's Corrected QT Interval (QTcF)The cardio-dynamic assessment was performed through 12-lead electrocardiogram (ECG) extracted from continuous recordings at pre-specified time points. Participants rested in supine position for at least 10 minutes prior to and 5 minutes after each time point for ECG extractions. The QT interval is the time from electrocardiogram Q wave to the end of the T wave corresponding to electrical systole. QT interval was corrected for heart rate using QTcF. Placebo-corrected change from baseline in QTcF (ΔΔQTcF) was calculated based on model-predicted effect.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseChange From Baseline in QTcF IntervalThe cardio-dynamic assessment was performed through 12-lead ECGs extracted from continuous recordings at pre-specified time points. Participants rested in supine position for at least 10 minutes prior to and 5 minutes after each time point for ECG extractions. QT interval was corrected for heart rate using Fridericia's correction (QTcF).At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseChange From Baseline in PR IntervalThe cardio-dynamic assessment was performed through 12-lead ECGs extracted from continuous recordings at pre-specified time points. Participants rested in supine position for at least 10 minutes prior to and 5 minutes after each time point for ECG extractions. The PR interval is the time from the onset of the P-wave to the start of the next QRS complex, corresponding to the end of atrial depolarization and onset of ventricular depolarization.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseChange From Baseline in QRS IntervalThe cardio-dynamic assessment was performed through 12-lead ECGs extracted from continuous recordings at pre-specified time points. Participants rested in supine position for at least 10 minutes prior to and 5 minutes after each time point for ECG extractions. QRS interval is the time from electrocardiogram Q wave to the end of the S wave, corresponding to ventricle depolarization.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseChange From Baseline in Heart Rate (HR) IntervalThe cardio-dynamic assessment was performed through 12-lead ECGs extracted from continuous recordings at pre-specified time points. Participants rested in supine position for at least 10 minutes prior to and 5 minutes after each time point for ECG extractions. Baseline is defined as the last results (scheduled or unscheduled) obtained prior to drug administration in each period.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-dosePlacebo-corrected Change From Baseline in PR IntervalPlacebo-corrected change from Baseline in PR, (ΔΔPR) was calculated based on model-predicted effect. PR interval was the time between the beginning of the P wave and the start of the QRS interval, corresponding to the end of atrial depolarization and onset of ventricular depolarization.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-dosePlacebo-corrected Change From Baseline in QRS IntervalPlacebo-corrected change from baseline for QRS interval, (ΔΔQRS) was calculated based on model-predicted effect. QRS interval is the time from Q wave to the end of the S wave, corresponding to ventricle depolarization.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-dosePlacebo-corrected Change From Baseline in HR IntervalPlacebo-corrected change from baseline in HR, (ΔΔHR) was calculated based on model-predicted effect.At 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseNumber of Participants With Changes in Categorical Outliers for QTcF, PR, and QRS Intervals in the ECG and HRQTcF: Treatment-emergent value of greater than (\>) 450 and less than or equal to (\<=) 480 ms when not present at Baseline (new onset). Treatment-emergent value of \> 480 and \<= 500 ms when not present at Baseline (new onset). Treatment-emergent value of \> 500 ms when not present at Baseline (new onset). Increase of QTcF (ΔQTcF) from Baseline of \> 30 and \<= 60 ms. Increase of QTcF from Baseline \> 60 ms HR: Decrease of HR from Baseline \> 25% resulting in HR less than (\<) 50 bpm. Increase of HR from Baseline \> 25% resulting in HR \> 100 bpm. PR: Increase of PR from Baseline \> 25% resulting in PR \> 210 ms. QRS: Increase of QRS from Baseline \> 25% resulting in QRS \> 120 ms.Baseline, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, and 36 hours post-doseNumber of Participants With Treatment-Emergent Changes of T-Wave Morphology and U Wave PresenceT-wave abnormalities were categorized as follows: Normal T wave (+): Any positive T wave not meeting any criterion below. Flat T wave: T amplitude \< 1 mm (either positive or negative) including flat isoelectric line. Notched T wave (+): Presence of notch(es) of at least 0.05 mV amplitude on ascending or descending arm of the positive T wave. Biphasic: T wave that contains a second component with an opposite phase that is at least 0.1 mV deep (both positive/negative and negative/positive and polyphasic T waves included). Normal T wave (-): T amplitude that is negative, without biphasic T wave or notches. Notched T wave (-): Presence of notch(es) of at least 0.05 mV amplitude on descending or ascending arm of the negative T wave. U waves: Presence of abnormal U waves.Up to 44 daysPlasma Pharmacokinetic (PK): Area Under the Concentration-Time Curve From Time Zero to the Last Measurable Concentration (AUC0-t) of ITF2357 and Its MetabolitesThe area under the concentration time curve (AUC) from time zero (= dosing time) to the last sampling time (tlast) at which the concentration is at or above the lower limit of quantification. AUC0-t was calculated using the mixed log-linear trapezoidal rule (linear up, log down). AUC0-t of ITF2357 and metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide were reported.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Area Under the Concentration-Time Curve From Time Zero to the Last Measurable Concentration (AUC0-t) of MoxifloxacinThe area under the concentration time curve (AUC) from time zero (= dosing time) to the last sampling time (tlast) at which the concentration is at or above the lower limit of quantification. AUC0-t was calculated using the mixed log-linear trapezoidal rule (linear up, log down).Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Area Under the Concentration-Time Curve From Time Zero to 12 Hours (AUC0-12) of ITF2357 and Its MetabolitesAUC0-12 was calculated using the trapezoidal method for ITF2357 and metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide. AUC0-12:: of ITF2357 and its metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide were reported.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, and 12 hours post-dosePlasma PK: Area Under the Concentration-Time Curve From Time Zero to 12 Hours (AUC0-12) of MoxifloxacinAUC0-12 was calculated using the trapezoidal method for Moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8 and 12 hours post-dosePlasma PK: Area Under the Concentration-Time Curve From Time Zero to Infinity (AUC0-inf) of ITF2357 and Its MetabolitesAUC0-inf was calculated as AUC0-t + Clast/Kel, where Clast is the last measurable concentration. Elimination rate constant (Kel),was defined as the negative of the estimated slope of the linear regression of the in-transformed concentration versus time profile in the terminal elimination phase. AUC0-inf of ITF2357 and metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide were reported.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Area Under the Concentration-Time Curve From Time Zero to Infinity (AUC0-inf) of MoxifloxacinAUC0-inf was calculated as AUC0-t + Clast/Kel, where Clast is the last measurable concentration for Moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Percentage of Residual Area for ITF2357 and Its MetabolitesResidual area was calculated as 100\*(1- AUC0-t / AUC0-inf) for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Percentage of Residual Area for MoxifloxacinResidual area was calculated as 100\*(1- AUC0-t / AUC0-inf) for moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Maximum Observed Plasma Concentration (Cmax) of ITF2357 and Its MetabolitesCmax was calculated for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide. Cmax was taken directly from the observed concentration-time curve.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Maximum Observed Plasma Concentration (Cmax) of MoxifloxacinCmax was calculated for moxifloxacin. Cmax was taken directly from the observed concentration-time curve.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Time of Observed Cmax (Tmax) of ITF2357 and Its MetabolitesTmax was calculated for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide. The time to reach the maximum observed plasma concentration obtained directly from plasma concentration time curve.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Time of Observed Cmax (Tmax) of MoxifloxacinTmax was calculated for Moxifloxacin. The time to reach the maximum observed plasma concentration obtained directly from plasma concentration time curve.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Elimination Rate Constant (Kel) of ITF2357 and Its MetabolitesKel was defined as the negative of the estimated slope of the linear regression of the ln-transformed concentration versus time profile in the terminal elimination phase. Kel was calculated for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, andITF2955 glucuronide.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Elimination Rate Constant (Kel) of MoxifloxacinKel was defined as the negative of the estimated slope of the linear regression of the ln-transformed concentration versus time profile in the terminal elimination phase. Kel was calculated for Moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Elimination Half-life (T½ el) of ITF2357 and Its MetabolitesT½ el was calculated as ln(2)/kel for ITF2357 and Metabolites : ITF2374, ITF2375, ITF2440, ITF2563, ITF2955 glucuronide, and Moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Elimination Half-life (T½ el) of MoxifloxacinT½ el was calculated as ln(2)/kel for moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Apparent Total Body Clearance (CL/F) of ITF2357 and Its MetabolitesCL/F was calculated as Dose/AUC0-inf for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Apparent Total Body Clearance (CL/F) of MoxifloxacinCL/F was calculated as Dose/AUC0-inf for moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Apparent Volume of Distribution (Vd/F) of ITF2357 and Its MetabolitesVd/F was calculated as Dose/Kel x AUC0-inf for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, and ITF2955 glucuronide.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-dosePlasma PK: Apparent Volume of Distribution (Vd/F) of MoxifloxacinVd/F was calculated as Dose/Kel x AUC0-inf for moxifloxacin.Pre-dose, 0.5, 1, 1.5, 2, 2.5, 3, 3.5, 4, 5, 6, 7, 8, 12, 24, 36, 48, 60, and 72 hours post-doseUrine PK: Cumulative Urinary Excretion From Time Zero to Time t (Ae0-t) for ITF2357 and Its MetabolitesAe0-t was calculated as the sum of the amounts excreted over each collection interval. The amount excreted in the urine for each time interval is calculated as the urine concentration multiplied by the urine volume for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, ITF2955 glucuronide.Pre-dose (within 2 hours before dosing), 0-8 hours, 8-24 hours, 24-48 hours, and 48-72 hours post-doseUrine PK: Maximum Rate of Urinary Excretion (Rmax) for ITF2357 and Its MetabolitesRmax was calculated by dividing the amount of drug excreted in each collection interval by the time over which it was collected for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, ITF2955 glucuronide.Pre-dose (within 2 hours before dosing), 0-8 hours, 8-24 hours, 24-48 hours, and 48-72 hours post-doseUrine PK: Time of Rmax (TRmax) for ITF2357 and Its MetabolitesTRmax was calculated as the midpoint of the collection interval during which Rmax occurred for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, ITF2955 glucuronide.Pre-dose (within 2 hours before dosing), 0-8 hours, 8-24 hours, 24-48 hours, and 48-72 hours post-doseUrine PK: Renal Clearance (Clr) for ITF2357 and Its MetabolitesClr was calculated as Ae0-t / AUC0-t (plasma) for ITF2357 and Metabolites: ITF2374, ITF2375, ITF2440, ITF2563, ITF2955 glucuronide.Pre-dose (within 2 hours before dosing), 0-8 hours, 8-24 hours, 24-48 hours, and 48-72 hours post-doseNumber of Participants With Treatment-Emergent Adverse Events (TEAEs) and Serious TEAEsAdverse event (AE) was defined as any untoward medical occurrence in a subject or clinical investigation participant administered a pharmaceutical product and which did not necessarily have a causal relationship with the study drug. Serious adverse event (SAE) was an AE that resulted in any of the following outcomes: death; life threatening; persistent/significant disability/incapacity; required initial or prolonged inpatient hospitalization; congenital anomaly/birth defect or was otherwise considered medically important. TEAE were defined as an AEs following the start of treatment or AEs increasing in severity during treatment. TEAEs include both serious and non-serious TEAEs.Baseline up to 44 daysNumber of Treatment-Related TEAEsAdverse event (AE) was defined as any untoward medical occurrence in a subject or clinical investigation participant administered a pharmaceutical product and which did not necessarily have a causal relationship with the study drug. Any AEs which occurred due to study drug treatment are reported as Treatment-related AEs. Number of treatment related TEAEs were reported.Baseline up to 44 daysNumber of TEAEs Based on SeverityAll AEs were analyzed using National Cancer Institute-Common Terminology Criteria for Adverse Events (NCI-CTCAE) Version 5.0 and were graded as Grade 1: mild asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated, Grade 2: Moderate; minimal, local or noninvasive intervention indicated; limiting age-appropriate instrumental activities of daily living (ADL), Grade 3: Severe or medically significant but not immediately life-threatening; hospitalization or prolongation of hospitalization indicated; disabling; limiting self care ADL, Grade 4: Life-threatening consequences; urgent intervention indicated, Grade 5: death related AE, where higher grade indicated more severe condition. Number of TEAEs based on severity were reported.Baseline up to 44 daysNumber of Participants With Clinically Significant Changes in Vital SignsVital signs, including semi supine blood pressure, pulse rate, respiratory rate, weight, and oral temperature were assessed. Clinical significance was decided by the investigator. Number of participants with clinically significant change from baseline in vital signs were reported.Baseline up to 44 daysNumber of Participants With Clinically Significant Changes in Clinical Laboratory ParametersClinical laboratory parameters included biochemistry, hematology, and urinalysis. Clinical significance was decided by the investigator. Number of participants with clinically significant change from baseline in clinical laboratory parameters were reported.Baseline up to 44 daysNumber of Participants With Clinically Significant Changes in Electrocardiogram (ECG) FindingsECG parameters included rhythm, ventricular rate, PR interval, QRS duration, and QT interval. Clinical significance was decided by the investigator. Number of participants with clinically significant change from baseline in ECG were reported.Baseline up to 44 daysTrue1855FalseFalseFalseFalse NCT0458391720NM34Great Ormond Street Hospital for Children NHS Foundation TrustOTHERBrain Involvement in Dystrophinopathies Part 12024-07COMPLETEDThe objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.OBSERVATIONALInclusion Criteria: For DMD patients: * Male * age 5-17 years * genetically-proven diagnosis of DMD * genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3) For BMD patients: * age 5-50 years * genetically-proven diagnosis of BMD * genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3). Exclusion Criteria: * Lack of a molecular diagnosis of DMD or BMD * Mutation falls outside the regions of interest * A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participantMALE2024-10-18T00:00:002020-10-052020-10-052024-07-192020-10-122024-07-222021-03-302024-06-302024-06-30falseFalseFalseThe objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy377CNS Comorbidity PheotypingCorrelate CNS comorbidity phenotypes with genotype in DMD and BMD patients90 minutesFalse550FalseFalseFalseFalse NCT02241434NGBSI-13Neurogen Brain and Spine InstituteOTHERStem Cell Therapy in Duchenne Muscular Dystrophy2018-10WITHDRAWNThe purpose of this study was to study the effect of stem cell therapy in patients with Duchenne Muscular Dystrophy.INTERVENTIONALInclusion Criteria: * age group of 3-25 years * Duchenne muscular dystrophy diagnosed on the basis of clinical presentation Exclusion Criteria: * presence of respiratory distress * presence of acute infections such as Human Immunodeficient Virus/Hepatitis B Virus/Hepatitis C Virus * malignancies * acute medical conditions such as respiratory infection, fever, hemoglobin less than 8, bleeding tendency, bone marrow disorder, left ventricular ejection fraction \< 30% * pregnancy or breastfeedingALL2024-10-18T00:00:002014-09-122014-09-122018-10-232014-09-162018-10-252009-012016-012016-06trueThe purpose of this study was to study the effect of stem cell therapy in patients with Duchenne Muscular Dystrophy.Duchenne Muscular DystrophyPHASE10Manual Muscle Testing1 yearBrooke and Vignos Scale1 yearFalse325FalseFalseFalseFalse NCT01648634P090202Assistance Publique - Hôpitaux de ParisOTHERNebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy2021-09COMPLETEDThe objective is to determine whether nebivolol, a beta-blockade drug, can prevent the development of heart disease in patients with Duchenne muscular dystrophy aged 10 to 15 year-old.INTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy genetically proven * Age between 10 and 15 years * Left ventricular ejection fraction assessed by radionuclide angiography or echocardiography ≥50% and measured within 3 months * Systolic blood pressure ≥80 mmHg * Diastolic blood pressure ≥70 mmHg Exclusion Criteria: * Heart rate \<50 bpm * 2nd or 3rd degree atrioventricular blocks, sinus node dysfunction * Asthma or bronchospasm * Severe peripheral circulatory disease * Hypersensitivity to nebivolol or excipients * Metabolic acidosis * Blood urea \>7 mmol/l * Liver transaminases enzymes \>6 fold the upper limit of normal * Formal indication for beta-blockade treatment * Cardiac treatments except angiotensin-converting enzyme inhibitors * Participation to another clinical trial within 3 monthsMALE2024-10-18T00:00:002012-07-202012-07-232021-09-272012-07-242021-09-282012-02-132021-07-202021-07-20trueThe objective is to determine whether nebivolol, a beta-blockade drug, can prevent the development of heart disease in patients with Duchenne muscular dystrophy aged 10 to 15 year-old.Duchenne Muscular Dystrophy;Cardiomyopathy;Heart FailurePHASE351Left ventricular systolic dysfunctionDevelopment of left ventricular systolic dysfunction with an ejection fraction \< 45%at 5 yearsRight ventricular ejection fractionRight ventricular ejection fraction assessed by radionuclide angiography or echocardiographyat 5 yearsNT-ProBNPNT-ProBNPat 1, 2, 3, 4, and 5 yearsLeft ventricular dysfunctionDevelopment of left ventricular dysfunctionat 10 yearsHospitalizationshospitalizations for heart failureat 10 yearsMortalityCardiovascular mortalityat 10 years ((5-years open label extension)False1015FalseFalseFalseFalse NCT04433234DS5141-A-J201Daiichi SankyoINDUSTRYLong-term, Extension Study of DS-5141b in Patients With Duchenne Muscular Dystrophy2024-08ACTIVE_NOT_RECRUITINGThis is a multicenter, open-label, long-term, extension, phase 2 study to evaluate the safety and efficacy of long-term treatment with DS-5141b in patients with DMD who have completed DS5141-A-J101.INTERVENTIONALInclusion Criteria: * Has competed a study of DS5141-A-J101 Exclusion Criteria: * Significant safety issues in a study of DS5141-A-J101 * Patient who does not consent to use appropriate contraception * Patient not appropriate to participant in the study as determined by the InvestigatorMALE2024-10-18T00:00:002020-06-122020-06-122024-08-282020-06-162024-08-292020-06-302027-01-312027-01-31falseFalseFalseThis is a multicenter, open-label, long-term, extension, phase 2 study to evaluate the safety and efficacy of long-term treatment with DS-5141b in patients with DMD who have completed DS5141-A-J101.Duchenne Muscular DystrophyPHASE28Incidence of Adverse Events (AEs)From first injection to after the last injection of DS-5141b in this study (within approximately 2 years)Change in distance walked during 6-minute walk test (6MWT)Every 3 months (within approximately 2 years)Change in time to stand (TTSTAND)Every 3 months (within approximately 2 years)Change in time in Timed up and go testEvery 3 months (within approximately 2 years)Change in time in 10-meter Run/Walk testEvery 3 months (within approximately 2 years)Change in score in the North Star Ambulatory Assessment (NSAA)Every 3 months (within approximately 2 years)Change in score in the Performance of Upper Limb (PUL)Every 3 months (within approximately 2 years)Change in Left Ventricular Ejection Fraction percentage (LVEF %)Every 6 months (within approximately 2 years)Change in in Forced Vital Capacity (FVC) (percent predicted)Every 6 months (within approximately 2 years)Change in Muscle Strength Measured by Quantitative Muscle Strength AssessmentEvery 3 months (within approximately 2 years)Concentration of DS-5141a in plasmaEvery 3 months (within approximately 2 years)False5FalseFalseFalseFalse NCT04173234KA-19022Hacettepe UniversityOTHERAerobic Exercise in Duchenne Muscular Dystrophy2021-09COMPLETEDDuchenne Muscular Dystrophy (DMD) is the most common neuromuscular disease in childhood with an estimate incidence of 1 in 3500 to 5000 male births. The effect of aerobic training on muscle architectural properties and motor functions such as muscle activation is not clear in DMD. The aim of this study is to investigate the effects of aerobic training on these parameters in children with DMD. Twenty children with DMD included in the study will be divided into two groups as home program and home program+aerobic training with block randomization method. Home program including stretching, respiratory, range of motion and mild resistance exercise with body weight will be asked to apply 3-5 days a week for 12 weeks, aerobic training will be performed 3 days a week for 12 weeks at 60% of their maximum hearth rate with 50 minutes total duration consisting of 10 min warm up and 10 min cool down period. Muscle architectural properties, muscle strength, muscle activation and motor function will be assessed with ultrasonographic, hand-held myometry, surface EMG and Motor Function Measure, consecutively. Assessments will be applied at pre-training and after 12 weeks of training.INTERVENTIONALInclusion criteria: * Children had diagnosis of DMD confirmed by genetic analysis, * Children had functional level of Grade 1 and 2 according to Vignos Scale. Exclusion criteria: * Children had undergone any surgery or suffered injury of the lower limbs, * Children had comorbid disease * Children were applied regular aerobic training in last 6 months.MALE2024-10-18T00:00:002019-05-282019-11-192021-09-292019-11-212021-09-302019-04-112020-08-152020-12-15trueFalseFalseDuchenne Muscular Dystrophy (DMD) is the most common neuromuscular disease in childhood with an estimate incidence of 1 in 3500 to 5000 male births. The effect of aerobic training on muscle architectural properties and motor functions such as muscle activation is not clear in DMD. The aim of this study is to investigate the effects of aerobic training on these parameters in children with DMD. Twenty children with DMD included in the study will be divided into two groups as home program and home program+aerobic training with block randomization method. Home program including stretching, respiratory, range of motion and mild resistance exercise with body weight will be asked to apply 3-5 days a week for 12 weeks, aerobic training will be performed 3 days a week for 12 weeks at 60% of their maximum hearth rate with 50 minutes total duration consisting of 10 min warm up and 10 min cool down period. Muscle architectural properties, muscle strength, muscle activation and motor function will be assessed with ultrasonographic, hand-held myometry, surface EMG and Motor Function Measure, consecutively. Assessments will be applied at pre-training and after 12 weeks of training.Duchenne Muscular DystrophyNA19Evaluation of Muscle Thickness, Fascicle Length, Pennation Angle with UltrasonographyBilateral Vastus Lateralis and Medial Gastrocnemius US evaluations were performed with use of a 5-10 MHz linear probe (Diasus Dynamic Imaging Ltd, Livingston, Scotland,UK). Children were positioned supine with their legs extended and their muscles relaxed for vastus lateralis.Children were positioned prone position with their legs and their muscles relaxed for medial gastrocnemius. While Muscle Thickness and Fascicle Length would be expressed as centimeters, pennation angle would be angularly indicated.10 minutesAssessment of Motor Function by Motor Function Measure (MFM)The total scores of the MFM test were determined in three motor function domains: D1 (Standing Position \& Transfers), D2 (Axial and Proximal Motor Function) and D3 (Distal Motor Function) (scored between 0-96 points, low score indicate low performance.)30 minutesEvaluation Motor Performance with Timed Functional Test and Six minute walk testTimed function tests included time taken to stand from a supine position, time taken to run/walk 10 m, time taken to climb 4 standard-sized stairs, time taken to descend 4 standard-sized stairs and time taken to stand one leg stance (both leg).Participants were instructed to travel as far and as fast as possible in six minutes on 25 meter-indoor course.20 minutesShortening assessment of trunk and lower extremity muscles with goniometric measurement and tapeAssessment of back extensors, hip flexors, hamstring, quadriceps and gastrocnemius muscles. For assessment back extensors, The child was placed in the supine position with his knee fixed at a neutral position, and then shortening was evaluated by having bilateral hip flexion made. For hip flexor, The child was placed in the supine position with his knee fixed at a neutral position, and he was then evaluated by having one leg hip flexion made. Hamstring shortening was measured in a supine position with the hip flexed at 90° and the opposite knee and hip were placed in an extended position. Quadriceps shortening was assessed in a prone position and then by bending knee. For gastrocnemius muscle, the child was placed in a supine position and asked to perform passive ankle dorsiflexion while the knee was extended.20 minutesFalse512FalseFalseFalseFalse NCT01182324999910171National Institutes of Health Clinical Center (CC)NIHThe PTC124 (Ataluren) Clinical Trial for Duchenne Muscular Dystrophy: Exploration of the Experiences of Parents, Clinician Researchers, and the Industry Sponsor2013-06-24COMPLETEDThe purpose of this study is to describe the experiences of parents, clinician researchers, and industry professionals who were involved in phase II clinical trials of Ataluren for Duchenne muscular dystrophy. We are especially interested in learning about motivations for being involved in the clinical trial, expectations of the trial, the experience of the trial, and relationships between the parents of children involved in the trial, the clinician researchers, and PTC Therapeutics. In addition, we would like to learn more about whether and how families and advocacy organizations experiences in following the progress of the drug, encouraging the clinical trial, and supporting the phase II trials may have affected participants thoughts and feelings about the study.OBSERVATIONAL* INCLUSION CRITERIA: * US residents over 18 years of age who have at least one child with Duchenne Muscular Dystrophy who was enrolled in the phase IIa extension trial or phase IIb trial of PTC124. Participants must be a primary caregiver for their children, must have been involved in deciding whether the child would participate in the clinical trial, and must have accompanied their child to at least one visit to the clinical trial site. * Clinician researchers over 18 years of age who were involved with implementing the clinical trial at a study site. * Representatives of PTC Therapeutics over 18 years of age. All participants must be willing and able to complete an approximately 1-hour long telephone interview in English. EXCLUSION CRITERIA: -Must meet inclusion criteria.ALL2024-10-18T00:00:002010-08-132010-08-132018-04-042010-08-162018-04-052010-07-302013-06-24The purpose of this study is to describe the experiences of parents, clinician researchers, and industry professionals who were involved in phase II clinical trials of Ataluren for Duchenne muscular dystrophy. We are especially interested in learning about motivations for being involved in the clinical trial, expectations of the trial, the experience of the trial, and relationships between the parents of children involved in the trial, the clinician researchers, and PTC Therapeutics. In addition, we would like to learn more about whether and how families and advocacy organizations experiences in following the progress of the drug, encouraging the clinical trial, and supporting the phase II trials may have affected participants thoughts and feelings about the study.Duchenne Muscular Dystrophy21To describe, inclusive of the perspectives and voices of all of the major participants, the shared experiences of parents, clinician researchers, and industry professionals who were involved in phase II clinical trials for Duchenne Muscular Dyst...False1899FalseFalseFalseFalse NCT018906162013-1312Children's Hospital Medical Center, CincinnatiOTHERConstipation and Gut Transit in DMD Patients2020-09COMPLETEDIn this research study the investigators want to screen Duchenne Muscular Dystrophy (DMD) patients for signs and symptoms of constipation in patients over 18. The investigators hypothesized: * DMD patients have a high prevalence of constipation than in the general population. * Prevalence of constipation will increase with age and with worsening functional status.OBSERVATIONALInclusion Criteria: * Patients with a diagnosis of Duchenne Muscular Dystrophy (based on clinical presentation and verified by compatible muscle biopsy or known dystrophin gene mutation). * Age greater than or equal to 18 years old Exclusion Criteria: * NoneMALE2024-10-18T00:00:002013-06-262013-06-272020-09-112013-07-022020-09-162013-05-012015-07-012015-07-01falseIn this research study the investigators want to screen Duchenne Muscular Dystrophy (DMD) patients for signs and symptoms of constipation in patients over 18. The investigators hypothesized: * DMD patients have a high prevalence of constipation than in the general population. * Prevalence of constipation will increase with age and with worsening functional status.Constipation;DMD8GI transit timesGi transit times will be computed by an investigator.up to 5 daysFalse18FalseFalseFalseFalse NCT051029162018-00289University of BernOTHERSwiss Registry for Neuromuscular Disorders2023-03RECRUITINGThe Swiss Patient Registry for DMD/BMD and SMA was launched in 2008 in order to give Swiss patients access to new therapies. It was founded with the financial support of several patient organizations and research foundations. Since 2008, children, adolescents and adults with DMD, BMD and SMA are registered with the help of all major muscle centers in Switzerland. After nearly ten years of activity, the Swiss Patient Registry for DMD/BMD and SMA implemented several adaptations in 2018 to meet current and future expectations of patient's organizations, health authorities and research organizations.OBSERVATIONALInclusion Criteria: * Children, adolescents and adults diagnosed with a NMD * Who are living or treated for a NMD in Switzerland, and * Who gave informed consent Exclusion Criteria: * None if diagnosis is confirmed, whenever possible, by genetic testing, or at least by biopsy and/or electroneuromyography, according to international standards for the diagnosis of the given NMD.ALL2024-10-18T00:00:002021-10-202021-11-012023-03-092021-11-022023-03-102018-06-202071-01-012071-01-01falseFalseFalseThe Swiss Patient Registry for DMD/BMD and SMA was launched in 2008 in order to give Swiss patients access to new therapies. It was founded with the financial support of several patient organizations and research foundations. Since 2008, children, adolescents and adults with DMD, BMD and SMA are registered with the help of all major muscle centers in Switzerland. After nearly ten years of activity, the Swiss Patient Registry for DMD/BMD and SMA implemented several adaptations in 2018 to meet current and future expectations of patient's organizations, health authorities and research organizations.SMA;DMD;BMD;IMD;Congenital Muscular Dystrophy2000Personal dataRegistering and updating patients personal dataBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Initial symptomsInitial symptomsAt diagnosisAge at initial symptoms and diagnosisAge at initial symptoms and diagnosisAt diagnosisFamily historyOther affected family membersAt diagnosisInvestigationsType of investigations for diagnosisAt diagnosisDiagnosisMutationAt diagnosisChange of living statusDate of deathBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change of living status IICause of deathBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in heightRegistering heightBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in weightRegistering weightBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in head circumferenceRegistering head circumferenceBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in motor development and motor functionsRegistering motor development and function (motor function scales)Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in musculoskeletal systemAssessing change in musculoskeletal system over timeBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)History of surgeriesRegistering surgeriesBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in cardiac functionRegistering cardiac functionBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in pulmonary functionRegistering pulmonary functionBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in nutritional habitsRegistering feeding habitsBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in cognitionAssessing mental ability using tests, including languageBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in educationRegistering type of educationBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in therapiesRegistering therapiesBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in orthopaedic situationAssessing use of orthopaedic resourcesBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in treatmentsRegistering treatmentsBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in side effectsRegistering side effects of treatmentsBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in comorbiditiesRegistering comorbiditiesBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)History of hospitalizationsRegistering hospitalizationsBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in disease specific markersRegistering change in disease specific markersBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Change in epilepsyRegistering epilepsyBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)History of participation in clinical trials and research studiesRegistering participation in current/past clinical trials and research studiesBaseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)Questionnaire dataQuestionnaires focusing on specific research questions (Health-related questions, health behavior, medical equipment, treatments and therapies, quality of life, participation, social-economic factors, academic information, patient/caregiver reported outcomes, needs, concerns)0-80 yearsFalse0FalseFalseFalseFalse NCT02606136FGCL-3019-079FibroGenINDUSTRYTrial of Pamrevlumab (FG-3019), in Non-Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)2024-07TERMINATEDThis is a Phase 2, open-label, single arm trial of pamrevlumab (FG-3019) to estimate pamrevlumab's safety and efficacy in non-ambulatory participants with DMD.INTERVENTIONALInclusion Criteria: * Written consent/assent by participant and/or legal guardian as per regional and/or institutional review board (IRB) requirements * Non-ambulatory * Brooke Score for Arms and Shoulders ≤5 * Diagnosis of DMD by medical history and confirmed Duchenne mutation in available genetic testing using a validated genetic test * Able to perform spirometry * Able to undergo cardiac and extremity (upper arm) MRI * Percent predicted FVC between 40 and 90, inclusive * At least one historical ppFVC predicted value within 18 months of baseline * Left ventricular ejection fraction ≥ 45% as determined by cardiac MRI at screening or within 3 months prior to Day 0 * Participants currently receiving heart failure cardiac medications (for example, angiotensin converting enzyme inhibitors, angiotensin-receptor blockers, and beta-blockers) must achieve a stable regimen for at least 3 months prior to screening * On a stable dose of corticosteroids for a minimum of 6 months prior to screening with no substantial change in dosage for a minimum of 3 months (except for adjustments for changes in body weight) prior to screening and no foreseen change in corticosteroid use during the course of study participation * Received pneumococcal vaccine and is receiving annual influenza vaccinations * Adequate renal function: cystatin C ≤1.4 mg/liter (L) * Adequate hematological function 1. Platelets \>100,000/microliter (μL) 2. Hemoglobin \>12 grams (g)/deciliter (dL) 3. Absolute neutrophil count \>1500/μL * Adequate hepatic function 1. No history or evidence of liver disease 2. Gamma glutamyl transferase (GGT) ≤3 x upper limit of normal (ULN) 3. Total bilirubin ≤1.5 x ULN * If sexually active, will use medically accepted contraceptives during participation in the study and for 3 months after the last dose of study drug Exclusion Criteria: * Requires ≥16 hours continuous ventilation * Prior or ongoing medical condition that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of 156 weeks of treatment and follow-up would be completed, or could impair the assessment of study results * Anticipated spine surgery within 156 weeks * Severe uncontrolled heart disease, including any of the following: 1. Need for intravenous diuretics or inotropic support within 3 months prior to screening 2. Hospitalization for a heart failure exacerbation or arrhythmia in last 3 months * Arrhythmia requiring anti-arrhythmic therapy * Hospitalization due to respiratory failure in the last 6 weeks * Poorly controlled asthma or underlying lung disease such as bronchopulmonary dysplasia * Known or suspected active hepatitis B or C or history of human immunodeficiency virus (HIV) * Body mass index (BMI) ≥40 kilograms (kg)/square meter (m\^2) or weight \>117 kg * Exposure to another investigational drug or another approved product for DMD (for example, eteplirsen or golodirsen) within 28 days prior to start of study treatment * Exposure to another investigational drug or another approved product for DMD (e.g. eteplirsen) within 28 days prior to start of study treatment (or 5 half-lives of the product whichever is longer) prior to first screening visit with the exception of deflazacort. Use of deflazacort, if regarded by the principal investigator as standard of care, is allowed.MALE2024-10-18T00:00:002015-11-042015-11-132024-07-312015-11-172024-08-272016-01-042020-05-072023-08-09trueTrueThis is a Phase 2, open-label, single arm trial of pamrevlumab (FG-3019) to estimate pamrevlumab's safety and efficacy in non-ambulatory participants with DMD.Duchenne Muscular DystrophyPHASE221Annual Change From Baseline in Percent Predicted Forced Vital Capacity (ppFVC) at Week 104FVC is a standard pulmonary function test used to quantify respiratory muscle weakness. FVC was the volume of air that can forcibly be blown out after full inspiration in the upright position, measured in liters. Predicted FVC is based on a formula using sex, age and height of a person, and is an estimate of healthy lung capacity. Percent of predicted FVC = (observed value)/(predicted value) \* 100%. Analysis was done using a random coefficient model (RCM), which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Percent Predicted Forced Expiratory Volume at 1 Second (ppFEV1) at Week 104FEV1 is the amount of air which can be forcibly exhaled from the lungs in the first second of a forced exhalation. Predicted FEV1 is based on a formula using sex, age and height of a person, and is an estimate of healthy lung capacity. Percent of predicted FEV1= (observed value)/(predicted value) \* 100%. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Percent Predicted Peak Expiratory Flow (PEF) at Week 104Percent predicted PEF is a measure of the maximal or peak flow produced during an exhalation with maximal effort and, as such, is the most effort-dependent measure of lung function. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Left Ventricular Ejection Fraction Percentage (LVEF%) at Week 104LVEF% is an important measure of cardiac function. LVEF is a fraction of blood (in percent) pumped out of the left ventricle of the heart (the main pumping chamber). Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Performance of Upper Limb (PUL) Total Score at Week 104The PUL module is an observer-administered performance battery of upper extremity mobility tasks for the shoulder (upper, 6 items: maximum score = 12), elbow (middle, 9 items: maximum score = 17) and wrist/hand (distal, 7 items: maximum score = 13). Higher scores of each item indicate higher level of function. Total score was calculated by adding the 3 level scores, with a maximum global score of 42 (total score range = 0-42; with higher score indicating better outcome). Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Grip Strength by Hand, as Measured by Hand Held Myometry (HHM) at Week 104The HHM was used to measure distal upper arm strength (grip strength). Data has been presented by dominant and non-dominant hand. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Pinch Strength, as Measured by HHM at Week 104The HHM was used to measure distal upper arm strength (pinch strength). Data has been presented by dominant and non-dominant hand. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Cardiac Fibrosis (Scar Mass), as Measured by Magnetic Resonance Imaging (MRI) at Week 104Cardiac MRI was used to assess the cardiac fibrosis by detecting the presence of late gadolinium enhancement (LGE), a marker for myocardial fibrosis. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104Change From Baseline in Upper Arm (Biceps Brachii MRI) Muscle Fat and Fibrosis Score, as Measured by MRI at Week 104T2-mapping with MRI was conducted to measure upper arm muscle fibrosis and fat in the biceps brachii muscle. Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect. The visual score for muscle fat and fibrosis will be assessed using a modified 5-point Mercuri score in which 0 = normal muscle appearance and 5 = complete replacement of muscle by connective tissue and fat, where a lower score indicated visually healthier muscle. Change from baseline was calculated as the score at Week 104 - the score at baseline.Baseline, Week 104Change From Baseline in Fat Fraction Percentage (%F), as Measured by MRI at Week 104Analysis was done using an RCM, which included visit in years (as a continuous variable), and baseline efficacy as fixed effects, the intercept and the linear slope of visit as random effect, and individual participants as participant effect.Baseline, Week 104False12TrueFalseFalseTrue NCT06079736PGN-EDO51-102PepGen IncINDUSTRYA Study Of PGN-EDO51 In Participants With Duchenne Muscular Dystrophy Amenable To Exon 51-Skipping Treatment2024-05RECRUITINGThe primary purpose of the MAD period is to evaluate the safety and tolerability of multiple ascending intravenous (IV) doses of PGN-EDO51 administered to participants with Duchenne muscular dystrophy (DMD). The primary purpose of the LTE period is to evaluate the long-term safety and tolerability of PGN-EDO51 in participants who have completed the MAD period. The study consists of 3 periods: A Screening Period (up to 45 days), a Treatment and Observation Period (16 weeks), and an Extension Period (108 weeks).INTERVENTIONALInclusion Criteria: * Males by birth, age at least 8 years at the time of consent/assent provided * Confirmed diagnosis of DMD able to be corrected by skipping Exon 51 * Body weight at least 25kg at Screening * Performance of Upper Limb (PUL) 2.0 entry score of at least 3 at Screening (assessing upper limb function in ambulant and non-ambulant individuals with DMD) Exclusion Criteria: * Known history or presence of any clinically significant conditions that may interfere with study safety assessments * Treatment with any gene replacement therapy for the treatment of DMD at any time * Current or recent systemic infection within 2 weeks prior to Screening or infection requiring IV antibiotics within 4 weeks prior to Screening * Recent surgery requiring anesthesia within 3 months prior to Screening or expected surgery requiring general anesthesia during the studyMALE2024-10-18T00:00:002023-09-292023-10-052024-05-102023-10-122024-05-132024-01-082025-032027-05trueFalseFalseThe primary purpose of the MAD period is to evaluate the safety and tolerability of multiple ascending intravenous (IV) doses of PGN-EDO51 administered to participants with Duchenne muscular dystrophy (DMD). The primary purpose of the LTE period is to evaluate the long-term safety and tolerability of PGN-EDO51 in participants who have completed the MAD period. The study consists of 3 periods: A Screening Period (up to 45 days), a Treatment and Observation Period (16 weeks), and an Extension Period (108 weeks).Duchenne Muscular DystrophyPHASE210Adverse events and serious adverse events (safety and tolerability of PGN-EDO51 in MAD period)Adverse events and serious adverse eventsBaseline to Week 16Adverse events and serious adverse events (long-term safety and tolerability of PGN-EDO51 in LTE period)Adverse events and serious adverse eventsBaseline to Week 108Plasma pharmacokinetic (PK) parameters (MAD period)Maximum observed plasma concentration of PGN-EDO51Baseline to Week 12Plasma pharmacokinetic (PK) parameters (MAD period)Time to maximum observed plasma concentration of PGN-ED051Baseline to Week 12Plasma pharmacokinetic (PK) parameters (MAD period)Apparent terminal half-life of PGN-EDO51Baseline to Week 12Plasma pharmacokinetic (PK) parameters (MAD period)Area under the curve for concentration time of PGN-EDO51Baseline to Week 12PK Plasma levels (LTE period)PK sampling for PGN-EDO51 and PGN-PMO51 plasma levelsBaseline to Week 104Skeletal muscle concentration (MAD period)Change from baseline in skeletal muscle concentration of PGN-EDO51 after multiple dosesBaseline to Week 13Dystrophin Levels (MAD period)Change from baseline in dystrophin levels measured after multiple dosesBaseline to Week 13False8FalseFalseTrueFalse NCT06392724GATx-01-IIT-CLINCPeking Union Medical College HospitalOTHERA Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.2024-07RECRUITINGThe study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.INTERVENTIONALInclusion Criteria: 1. Subject age: 4-10 years old (including 10 years old) 2. Gender: Male 3. Patients with DMD gene exon deletion types confirmed by molecular diagnosis: 8-49, 20-49, 22-49, 51, 51-53, 51-55, 51-57, 51-59, 51-60, 51-67, 51-69, 51-75 or 51-78 and other mutations amenable to exon 50 skipping. 4. The participant is able to walk independently and completes the 10-meter walk test without assistance. 5. Participant is able to complete time to stand from supine independently in less than 30s. 6. The participant is able to cooperate with motor assessment testing. 7. Receipt of glucocorticoids for 6 months and a stable daily dose for at least 12 weeks prior to study entry 8. Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures. Exclusion Criteria: 1. Participants are in the active period of viral infection, including infections such as TORCH virus, Epstein-Barr(EB) virus, and severe acute respiratory syndrome coronavirus 2 (SARS-COV-2). 2. Received a live attenuated vaccine within 3 months prior to receiving GEN6050X, or was exposed to an influenza (or other inactivated) vaccine within 30 days prior to receiving GEN6050X, or received systemic antiviral, anti-infective, and/or interferon therapy. 3. Serological tests found HIV, Hepatitis B Virus(HBV), hepatitis C virus(HCV), and syphilis infection. 4. Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks prior to receiving gene therapy. 5. With clear symptoms of cardiomyopathy, echocardiography shows that the left ventricular ejection fraction is less than 40%. 6. Need for continuous or intermittent assisted support from a ventilator. 7. Diagnosed with autoimmune disease or receiving related treatment for autoimmune disease. 8. The following indicators are abnormal in laboratory biochemical testing: γ-glutamyl transpeptidase (GGT) above the 2-fold upper limit and total bilirubin above 1.5 times the upper limit, cystatin C (cystatin C) \> 1.27 mg/L, hemoglobin (Hgb) \< 100 or \>200 g/L; Leukocytes (WBC) \> 18.5×10\^9/L or platelet ≤ 125×10\^9/L. 9. The titer of AAV9 neutralizing antibody determined by cell suppression assay \> 1:50. 10. Patients have received any gene therapy (e.g., adeno associated virus(AAV) gene therapy), cell therapy (e.g., stem cell transplantation), in vivo editing, or ex vivo editing therapy (e.g., CRISPR-Cas9, TALEN) in the past. 11. Participant has any contraindication to immunosuppressive therapy. 12. Has a medical condition or extenuating circumstance that, in the opinion of the principal investigator, is unsuitable for participation in the clinical trial. 13. The family does not wish to disclose the patient's study participation to the attending physician and other medical providers.MALE2024-10-18T00:00:002024-04-262024-04-292024-07-042024-04-302024-07-082024-072025-122027-12trueFalseFalseThe study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.Duchenne Muscular Dystrophy (DMD)EARLY_PHASE13Safety and tolerability of GEN6050X measured by incidence of adverse events (AEs).Incidence of dose-limiting safety or intolerability, as measured by treatment-related adverse events according to Common Terminology Criteria for Adverse Events (CTCAE) V5.0.through 1 year post-treatmentPhysical Therapy Assessment North Star Ambulatory Assessment (NSAA）The NSAA measures the quality of ambulation in young boys with Duchenne Muscular Dystrophy.Screening, 6 months-3 YearsPhysical Therapy Assessment Time to run/walk 10 meters(TTRW)Change in Time to Run/Walk 10 Meters Test (TTRW)Screening, 6 months-3 YearsPhysical Therapy Assessment 6MWTChange in Six-minutes Walk Test (6MWT)Screening, 6 months-3 YearsPhysical Therapy Assessments Change in Time to Stand (TTSTAND)Change in Time to Stand (TTSTAND)Screening, 6 months-3 YearsPhysical Therapy Assessments Ascend and Descend of 4 stepsChange in Time to Climb 4 Steps TestScreening, 6 months-3 YearsPhysical Therapy Assessments Hand-held dynamometerThe force generated for each muscle strength (elbow extension, elbow flexion, knee extension, and knee flexion on the dominant side only) will be measured by Hand-held dynamometer.Screening, 6 months-3 YearsPhysical Therapy Assessments upper limb functionChange score in Performance of Upper Limb (PUL) 2.0Screening, 6 months-3 YearsPhysical Therapy Assessments Pulmonary functionChange in pulmonary function testScreening, 6 months-3 YearsDystrophin protein expressionDystrophin protein recovery level in muscle biopsy.24 weeks post-treatmentSerum creatine kinase(CK)Decrease in CK levels in circulating bloodthrough 1 year post-treatmentFalse410FalseFalseTrueFalse NCT0460782414508213.4.0000.0065University of Sao PauloOTHERHeart Rate Variability in Duchenne Muscular Dystrophy During Computer Task2020-10COMPLETEDHRV is attained using a Polar RS800CX. Then, evaluated through linear, non-linear and chaotic global techniques (CGT). Forty-five male subjects were included in the DMD group and age-matched with forty-five in the healthy Typical Development (TD) control group. They were assessed for twenty minutes at rest sitting, and then five minutes whilst performing the maze task on a computer.OBSERVATIONALInclusion Criteria: * DMD diagnoses was based on molecular methods and/or muscular protein expression. * TD age-matched with DMD. Exclusion Criteria: * subjects with severely dilated myocardium. * subjects with other associated diseases. * individuals with inability to understand task instructions.MALE2024-10-18T00:00:002020-10-222020-10-222020-10-222020-10-292020-10-292014-032014-122020-06falseFalseFalseHRV is attained using a Polar RS800CX. Then, evaluated through linear, non-linear and chaotic global techniques (CGT). Forty-five male subjects were included in the DMD group and age-matched with forty-five in the healthy Typical Development (TD) control group. They were assessed for twenty minutes at rest sitting, and then five minutes whilst performing the maze task on a computer.Duchenne Muscular Dystrophy90Heart Rate Variability behavior during computational taskLinear, non-linear and complexity indices of heart rate variability will be assessed at rest and during computational task, in order to analyse it's behavior.1 dayTrue921FalseFalseFalseFalse NCT0466871620NM35Great Ormond Street Hospital for Children NHS Foundation TrustOTHERBrain Involvement in Dystrophinopathies Part 22024-07COMPLETEDThe objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.OBSERVATIONALInclusion Criteria: For DMD patients: * Male * age 5-17 years * genetically-proven diagnosis of DMD * genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3) For BMD patients: * age 5-50 years * genetically-proven diagnosis of BMD * genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3). For MRI controls: * Male * age 5-50 years Exclusion Criteria: For DMD and BMD patients: * Lack of a molecular diagnosis of DMD or BMD * Mutation falls outside the regions of interest * A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant For MRI controls: * any muscle disease * a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy) General exclusion criteria for MRI: * Claustrophobia * Pacemakers and defibrillators * Nerve stimulators * Intracranial clips * Intraorbital or intraocular metallic fragments * Cochlear implants * Ferromagnetic implants (e.g. thoracic implant for scoliosis) * Inability to lie supine during less than 45 minutes * not having a general practitioner * severe learning disability which will require a general anaestheticMALE2024-10-18T00:00:002020-12-092020-12-092024-07-192020-12-162024-07-222021-10-112024-06-302024-06-30falseFalseFalseThe objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy339CNS Comorbidity PhenotypingCorrelate CNS comorbidity phenotypes with genotype in DMD and BMD patients170 minutesTrue550FalseFalseFalseFalse NCT05429372C3391008PfizerINDUSTRYStudy of Fordadistrogene Movaparvovec in Early Stage Duchenne Muscular Dystrophy2024-04ACTIVE_NOT_RECRUITINGThe study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label studyINTERVENTIONALInclusion Criteria: * Confirmed diagnosis of DMD by prior genetic testing. Exclusion Criteria: * Any of the following genetic abnormalities in the dystrophin gene: a. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR b. A deletion that affects both exon 29 and exon 30; OR c. A deletion that affects any exons between 56-71, inclusive. * Positive test performed by Pfizer for neutralizing antibodies to AAV9. * Any prior treatment with gene therapy. * Any treatment designed to increase dystrophin expression within 6 months prior to screening (including, but not limited to, exon-skipping and nonsense read through). * Previous or current treatment with oral glucocorticoids or other immunosuppressive agents for the indication of DMD. * Abnormality in specified laboratory tests, including blood counts, liver and kidney function.MALE2024-10-18T00:00:002021-10-082022-06-202024-04-032022-06-232024-04-042022-08-082024-12-272029-01-03trueTrueFalseThe study will evaluate the safety and dystrophin expression following gene therapy in boys with Duchenne Muscular Dystrophy (DMD). It is a single-arm, non-randomized, open-label studyMuscular Dystrophy, DuchennePHASE210Incidence and severity of Treatment-Emergent Adverse Events and Serious Adverse EventsThrough Week 52Number of participants with abnormal hematology test resultsBlood samples will be collected from subjects for the analysis of hematologyThrough Week 52Number of participants with abnormal biochemistry test resultsBlood samples will be collected from subjects for the analysis of biochemistryThrough Week 52Number of participants with abnormal urine analysisUrine samples will be collected from subjects for the analysis of urineThrough Week 52Number of participants with abnormal and clinically relevant changes in neurological examinationsThrough Week 52Number of participants with abnormal and clinically relevant changes in body weightThrough Week 52Number of participants with abnormal and clinically relevant changes in vital signsThrough Week 52Number of participants with abnormal and clinically relevant changes on cardiac troponin IThrough Week 52Number of participants with abnormal and clinically relevant changes on electrocardiogram (ECG)Through Week 52Number of participants with abnormal and clinically relevant changes on echocardiogramThrough Week 52Distribution of mini-dystrophin expression in muscleMini-dystrophin distribution from a muscle biopsy will be assessed by immunofluorescenceAt Week 9, Week 52 and Year 5 (if available)Level of mini-dystrophin expression in muscleMini-dystrophin expression level from a muscle biopsy will be assessed by liquid chromatography mass spectrometryAt Week 9, Week 52 and Year 5 (if available)Incidence and severity of Treatment-Emergent Adverse Events and Serious Adverse EventsThrough 5 yearsNumber of participants with abnormal hematology test resultsBlood samples will be collected from subjects for the analysis of hematologyThrough 5 yearsNumber of participants with abnormal biochemistry test resultsBlood samples will be collected from subjects for the analysis of biochemistryThrough 5 yearsNumber of participants with abnormal urine analysisUrine samples will be collected from subjects for the analysis of urineThrough 5 yearsNumber of participants with abnormal and clinically relevant changes in neurological examinationsThrough 5 yearsNumber of participants with abnormal and clinically relevant changes in body weightThrough 5 yearsNumber of participants with abnormal and clinically relevant changes in vital signsThrough 5 yearsNumber of participants with abnormal and clinically relevant changes on cardiac troponin IThrough 5 yearsNumber of participants with abnormal and clinically relevant changes on electrocardiogram (ECG)Through 5 yearsNumber of participants with abnormal and clinically relevant changes on echocardiogramThrough 5 yearsFalse23FalseFalseFalseFalse NCT01753804PRO-DMD-01BioMarin PharmaceuticalINDUSTRYA Prospective Natural History Study of Progression of Subjects With Duchenne Muscular Dystrophy.2017-12TERMINATEDTo characterize the natural history and progression of Duchenne Muscular Dystrophy (DMD) to help inform the design of future studies, to capture biomarkers of safety and disease progression and to provide comparative data for the development of rare exons for which formal controlled trials are not feasible.OBSERVATIONALInclusion Criteria: * Diagnosis of DMD resulting from a mutation in the DMD gene confirmed by a state of the art DNA diagnostic technique covering all DMD gene exons. * Age 3 - 18 years * Willing and able to comply with protocol requirements * Life expectancy of at least 3 years * Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations) Exclusion Criteria: * Current participation in a clinical study with an Investigational Medicinal Product (IMP) * Participation within the previous 1 month in a clinical study with an IMPMALE2024-10-18T00:00:002012-12-132012-12-172017-12-062012-12-202017-12-082012-09-012016-10-012016-10-01falseTo characterize the natural history and progression of Duchenne Muscular Dystrophy (DMD) to help inform the design of future studies, to capture biomarkers of safety and disease progression and to provide comparative data for the development of rare exons for which formal controlled trials are not feasible.Duchenne Muscular Dystrophy2696 minute walk distanceParticipants are asked to walk at their own preferred speed on a fixed distance for 6 minutes. Subjects are warned of the time and that they may stop earlier if they feel unable to continue. Total distance walked within 6 minutes (or until stopping) is recorded.Change from visit 1 walking distanceFalse318FalseFalseFalseFalse NCT04972604CD-2021-01CureDuchenneOTHERCureDuchenne Link®: A Resource for Research2024-08RECRUITINGCureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).OBSERVATIONALInclusion Criteria: 1. Any of the following are true: 1. Currently has a confirmed diagnosis of DMD/BMD based on genetic testing, muscle biopsy, or clinical diagnosis. 2. Currently has a confirmed diagnosis of carrier status for DMD/BMD based on genetic testing. 2. Parent/guardian (for minor participants) or participant gives informed consent and/or assent as required by local regulations. 3. Is age 4 weeks or older at the time of consent. Exclusion Criteria: 1. Is a foster child or ward of the state. 2. Is a prisoner.ALL2024-10-18T00:00:002021-06-212021-07-122024-08-192021-07-222024-08-202021-07-092031-07-092031-07-09falseFalseFalseCureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and/or caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).Duchenne Muscular Dystrophy;Becker Muscular Dystrophy5000DiagnosisThere is no intervention in this project. Participants will provide documentation to support their diagnosis of Duchenne muscular dystrophy, Becker muscular dystrophy, or a carrier of these mutationsUpon study entryGenetic MutationParticipants will be asked to provide genetic testing reports confirming their diagnosis, where available, which will be reviewed by a central genetic counselor.Upon study entry or when genetic testing results are availableFunctional StatusSelf reported data (questionnaire on ambulation and mobility) will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) yearsNorth Star Ambulation Assessment (NSAA) ScoreClinically reported NSAA scores will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) years6 Minute Walk Test (6MWT) ScoreClinically reported 6MWT scores will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) yearsCorticosteroid StatusSelf reported and clinically reported corticosteroid status (past and present) will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) yearsCardiac StatusSelf reported and clinically reported cardiac status (past and present) will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) yearsRespiratory StatusSelf reported and clinically reported respiratory status (past and present) will be capturedUpon study entry and every 6-12 months thereafter for up to ten (10) yearsFalse4FalseFalseFalseFalse NCT04386304EPM-01-101Epirium Bio Inc.INDUSTRYSafety and Biomarker Response to (+)-Epicatechin in Becker Muscular Dystrophy2022-03COMPLETEDThis is a Phase 1, open-label, dose escalation study aimed at evaluating the safety, early efficacy and potential biomarkers of (+)-epicatechin in patients with Becker or Becker-like Muscular Dystrophy (BMD).INTERVENTIONALINCLUSION CRITERIA: 1. Participant must be ≥16 to \<60 years of age. 2. Genotype confirmation showing a mutation of the dystrophin gene. 3. Ambulation - participants must show a history of ambulation past the age of 16 years, with continued ambulation thereafter. 4. If on glucocorticoid treatment in the last 12 months, participants must be on a stable dose at screening. Participants cannot start steroids during the study. EXCLUSION CRITERIA: 1. A diagnosis of other neurological diseases or presence of relevant somatic disorders that are not related to Becker muscular dystrophy. 2. Participants with a history of migraine headaches requiring medical attention and active treatment within the past 6 months. 3. Participants with allergies to chocolate or cocoa. 4. Surgery or orthopedic injury that might affect muscle strength or function within 3 months before study entry or planned surgery at any time during the study. 5. Presence of a concomitant neurologic disease (e.g., Parkinson's disease) that could negatively impact mobility or balance. 6. Symptomatic heart failure (New York Heart Association Class III or IV) or known left ventricular ejection fraction \<40% by echocardiogram. 7. Presence of documented intrinsic lung disease (e.g., chronic obstructive pulmonary disease, pulmonary fibrosis). 8. Evidence of current liver disease or impairment. 9. Inadequate renal function. 10. Platelet count, WBC count, and hemoglobin at Screening \<Lower Limit of Normal (LLN). 11. Surgery or orthopedic injury that might affect muscle strength or function within 3 months before study entry or planned surgery at any time during the studyMALE2024-10-18T00:00:002020-05-012020-05-082022-03-222020-05-132022-03-232020-07-132022-03-012022-03-01falseTrueFalseThis is a Phase 1, open-label, dose escalation study aimed at evaluating the safety, early efficacy and potential biomarkers of (+)-epicatechin in patients with Becker or Becker-like Muscular Dystrophy (BMD).Becker Muscular DystrophyPHASE122Number of participants with treatment-emergent adverse events (TEAEs)The TEAEs will be graded using the adult National Cancer Institute (NCI) Common Terminology Criteria for Adverse Events (CTCAE, Version 5.0).Through study completion, up to 1 yearChange in cardiac function as assessed by cardiac magnetic resonance imaging (MRI)Through study completion, up to 1 yearChange in cardiac function as assessed by plasma biomarkers [e.g. pro-B-type natriuretic peptide (pro-BNP), nitrates].Through study completion, up to 1 yearChange in muscle function as assessed by 6-minute walk test (6MWT)Through study completion, up to 1 yearChange in muscle function as assessed by Time to Run/Walk 10-meter Test (TTRW10)Through study completion, up to 1 yearChange in muscle function as assessed by Time to 4-stair Climb Test (TT4SC)Through study completion, up to 1 yearChange in muscle function as assessed by Time to Run/Walk 100-meter Test (TTRW100)Through study completion, up to 1 yearChange in muscle structure and function as assessed by Western blot analysis of biopsy specimens (e.g. dystrophin expression)Through study completion, up to 1 yearChange in muscle biomarkers of regeneration in biopsy specimens (e.g. follistatin)Through study completion, up to 1 yearChange in plasma biomarkers of muscle regeneration (e.g. follistatin, myostatin)Through study completion, up to 1 yearFalse1659FalseFalseFalseFalse NCT02196467SIRUL 104501CHU de Quebec-Universite LavalOTHERTransplantation of Myoblasts to Duchenne Muscular Dystrophy (DMD) Patients2021-01UNKNOWNThis Phase I/II of the clinical trial is to investigate whether the transplantation of normal myoblasts throughout one muscle (the extensor carpi radialis) of the patients is safe and will improve the strength of that muscle. During this Phase I/II, the patients will be transplanted with myoblasts grown from the muscle biopsy of a donor and kept frozen in liquid nitrogen. Thirty million myoblasts will be injected per cm cube in a progressively higher surface of the radialis (i.e., 3, 6 and 9 cm2). The contralateral muscle will be injected with saline to serve as a control. The strength of both muscles will be measured at 3 months post transplantation to verify whether the myoblast transplantation improved the strength of the muscle. If there is no significant strength improvement, the protocol will be terminated immediately for that patient. If there is a significant strength improvement, the patient will be maintained under immunosuppression until 6 months post transplant and his strength will be re-evaluated.INTERVENTIONALInclusion Criteria: * A clinical diagnosis of DMD must be confirmed (i.e., with supporting confirmation demonstrated by the identification of a mutation in the dystrophin gene compatible with DMD or presence of less than 10% dystrophin positive fibers in a muscle biopsy in a subject with DMD). * The subject has to be older than 16 years of age. * Male * If on corticosteroids, a stable dose must be maintained for 6 months prior to myoblast transplantation and throughout the trial * A potential haplotype compatible donor (the father, the mother, a brother or sister who is more than 18 years old) should be available. * The subject must be able to move both wrists, with an MRC scale score of greater than or equal to 2. * Subject must have been vaccinated for pneumococcus and Haemophilus influenzae. * For subjects who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception for the duration of the study. * For subjects that need assisted ventilation, a stable regimen of non-invasive ventilation parameters for 3 months prior to the first myoblast transplantation and anticipation that they will be on a stable regimen throughout the study. * Written informed consent of the subject and donor. Exclusion Criteria: * An abnormal sensory examination * Persisting abnormal values in a hemogram (red blood cells, white blood cells, hemoglobin or platelets out of laboratory normal range). * A history of chronic infection. * Abnormal glycosylated hemoglobin level and/or fasting blood glucose (values out of laboratory normal range) * Previous neoplasia. * Previous tuberculosis or potential carrier of latent tuberculosis. * Any clinically significant cardiac, endocrine, hematologic, hepatic, immunologic, metabolic, urologic, pulmonary, neurologic, dermatologic, psychiatric, renal, and/or other major disease as determined by the Investigator that is not related to DMD * Previous history of renal problems or laboratory analyses suggestive of a renal problem (cystatin C, blood urea nitrogen, electrolytes out of laboratory normal range). * Previous biopsies or intramuscular injections in any of the extensor carpi radialis. * Subject who participated to phase 1A of myoblast transplantation * The subject uses a drug that is not compatible with tacrolimus (see section 6 "Concomitant medications" of protocol) within the last month. If the subject has previously used one of these drugs, the washout period before the onset of tacrolimus should be at least 1 month. * Subject tests positive for HIV-1, HIV-2, antigen HIV-1, HBC (hepatitis B surface antigen (HBsAg) and hepatitis B core antigen) HCV, HTLV-1 and anti-HTLV-2. * The subject was submitted to electromyography in the extensor carpi radialis, within the last 6 months. * There are pre-existing antibodies in the subject serum against the donor lymphocytes. * Any change (initiation, dose adjustment, interruption or discontinuation) in any medication that may affect muscle function (eg. Losartan, coenzyme Q10, green tea extract, idebenone, creatine, nutritional supplements, etc.) within 3 months of the first myoblast transplantation. * Any change in cardiac medications (ACE inhibitor, beta-blocker, etc.) within 3 months of first myoblast transplantation. * Any surgery or fracture of the upper extremity within 3 months prior to first myoblast transplantation or plans to have surgery during the course of the trial. * No haplotype compatible donor is available. * Unwillingness or inability of the subject to understand and comply with the requirements of this protocol in the opinion of the Investigator or sponsor. * Previous tuberculosis or potential carrier of latent tuberculosis. * Previous treatment with any other investigational product within 6 months of myoblast transplantation.MALE2024-10-18T00:00:002014-05-092014-07-182021-01-282014-07-222021-01-292014-052024-012024-01trueThis Phase I/II of the clinical trial is to investigate whether the transplantation of normal myoblasts throughout one muscle (the extensor carpi radialis) of the patients is safe and will improve the strength of that muscle. During this Phase I/II, the patients will be transplanted with myoblasts grown from the muscle biopsy of a donor and kept frozen in liquid nitrogen. Thirty million myoblasts will be injected per cm cube in a progressively higher surface of the radialis (i.e., 3, 6 and 9 cm2). The contralateral muscle will be injected with saline to serve as a control. The strength of both muscles will be measured at 3 months post transplantation to verify whether the myoblast transplantation improved the strength of the muscle. If there is no significant strength improvement, the protocol will be terminated immediately for that patient. If there is a significant strength improvement, the patient will be maintained under immunosuppression until 6 months post transplant and his strength will be re-evaluated.Duchenne Muscular DystrophyPHASE1PHASE210Number of Participants with Serious and Non-Serious Adverse Events as a measure of safety.The patients will be monitored for local and systemic potential adverse effects due to the transplantation and for adverse effects associated with immunosuppression with tacrolimus.Up to 6 monthsPercentage of dystrophin-positive fibers in a muscle biopsy 3 or 6 months after myoblast transplantation.The presence of dystrophin positive fibers will be assessed in a muscle biopsy done 6 months after the myoblast transplantation.6 months after the myoblast transplantationStrength of the Extensor carpi radialis muscles.The strength of both Extensor carpi radialis will be evaluated 3 and 6 months after the myoblast transplantation to evaluate whether this transplantation improved the muscle strength, prevented or slowed down the progression of the muscle weakness.At 3 and 6 months after myoblast transplantation.Presence of a cellular and humoral reaction against the donor antigensTo assess antibody-mediated immune responses, a blood sample will be obtained at days D-14 and D15, at week 4 and every 4 weeks until the end of the treatment schedule according to the transplant pattern of the subject, and at the 3 and 6 month follow ups. These blood samples will be used to make cross-matches to determine whether the subject is producing antibodies reacting with the donor myoblasts. The antibodies against donor myoblasts will be detected by flow cytometry. Antibodies against donor HLA class I and II antigens will also be assessed by flow cytometry using single HLA antigen-coated beads (Flow PRA beads, One Lambda, Canoga Park, CA).Every 4 weeks after transplantation for 6 monthsFalse16FalseFalseFalseFalse NCT04632940FGCL-3019-094FibroGenINDUSTRYPhase 3 Trial of Pamrevlumab or Placebo in Combination With Systemic Corticosteroids in Participants With Ambulatory DMD2024-07TERMINATEDTo evaluate the efficacy and safety of pamrevlumab versus placebo in combination with systemic corticosteroids administered every 2 weeks in ambulatory participants with Duchenne muscular dystrophy (DMD) (age 6 to \<12 years).INTERVENTIONALInclusion Criteria: Age, and consent: 1. Males at least 6 to \<12 years of age at screening initiation 2. Written consent by participant and/or legal guardian as per regional/ country and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements DMD diagnosis: 3. Medical history includes diagnosis of DMD and confirmed Duchenne mutation, including status of exon 44 using a validated genetic test. Pulmonary criteria: 4. Average (of screening and Day 0) percent predicted forced vital capacity (FVC) above 45% 5. On a stable dose of systemic corticosteroids for a minimum of 6 months, with no substantial change in dosage for a minimum of 3 months (except for adjustments for changes in body weight) prior to screening. Corticosteroid dosage should be in compliance with the DMD Care Considerations Working Group recommendations (for example, prednisone or prednisolone 0.75 mg/kg per day or deflazacort 0.9 mg/kg per day) or stable dose. A reasonable expectation is that dosage and dosing regimen would not change significantly for the duration of the study. Performance criteria: 6. Able to complete 6-minute walking distance (6MWD) test with a distance of at least 270 meters but no more than 450 meters on two occasions within 3 months prior to randomization with ≤10% variation between these two tests. 7. Able to rise (TTSTAND) from floor in \<10 seconds (without aids/orthoses) at screening visit. 8. Able to undergo magnetic resonance imaging (MRI) test for the lower extremities vastus lateralis muscle. Vaccination: 9. Agreement to receive annual influenza vaccinations during the conduct of the study. Laboratory criteria: 10. Adequate renal function: cystatin C ≤1.4 mg/liter (L) 11. Adequate hematology and electrolytes parameters: 1. Platelets \>100,000/microliter (μL) 2. Hemoglobin \>12 grams (g)/deciliter (dL) 3. Absolute neutrophil count \>1500/μL 4. Serum calcium (Ca), potassium (K), sodium (Na), magnesium (Mg) and phosphorus (P) levels are within a clinically accepted range for DMD participants 12. Adequate hepatic function: 1. No history or evidence of liver disease 2. Gamma glutamyl transferase (GGT) ≤3x upper limit of normal (ULN) 3. Total bilirubin ≤1.5xULN Exclusion Criteria: General Criteria: 1. Concurrent illness other than DMD that can cause muscle weakness and/or impairment of motor function 2. Severe intellectual impairment (for example, severe autism, severe cognitive impairment, severe behavioral disturbances) preventing the ability to perform study assessments in the Investigator's judgment 3. Previous exposure to pamrevlumab 4. Body mass index (BMI) ≥40 kg/square meter (m\^2) or weight \>117 kg 5. History of 1. allergic or anaphylactic reaction to human, humanized, chimeric or murine monoclonal antibodies 2. hypersensitivity to study drug or any component of study drug 6. Exposure to any investigational drug (for DMD or not), in the 30 days prior to screening initiation or use of approved DMD therapies (for example, eteplirsen, ataluren, golodirsen, casimersen) within 5 half-lives of screening, whichever is longer with the exception of the systemic corticosteroids, including deflazacort Pulmonary and Cardiac criteria: 7. Requires ≥16 hours continuous ventilation 8. Poorly controlled asthma or underlying lung disease such as bronchitis, bronchiectasis, emphysema, recurrent pneumonia that in the opinion of the investigator might impact respiratory function 9. Hospitalization due to respiratory failure within the 8 weeks prior to screening 10. Severe uncontrolled heart failure (New York Heart Association \[NYHA\] Classes III-IV) or renal dysfunction, including any of the following: 1. Need for intravenous diuretics or inotropic support within 8 weeks prior to screening 2. Hospitalization for a heart failure exacerbation or arrhythmia within 8 weeks prior to screening 3. Participants with glomerular filtration rate (GFR) of less than 30 mL/minute (min)/1.73 m\^2 or with other evidence of acute kidney injury as determined by investigator 11. Arrhythmia requiring anti-arrhythmic therapy 12. Any other evidence of clinically significant structural or functional heart abnormality Clinical judgment: 13. The Investigator judges that the participant will be unable to fully participate in the study and complete it for any reason, including inability to comply with study procedures and treatment, or any other relevant medical, surgical or psychiatric conditionsMALE2024-10-18T00:00:002020-11-122020-11-122024-08-012020-11-172024-08-262021-03-032023-06-122023-12-14trueTrueFalseTo evaluate the efficacy and safety of pamrevlumab versus placebo in combination with systemic corticosteroids administered every 2 weeks in ambulatory participants with Duchenne muscular dystrophy (DMD) (age 6 to \<12 years).Duchenne Muscular DystrophyPHASE373Change From Baseline in North Star Ambulatory Assessment (NSAA) Total Score at Week 52The NSAA consisted of 17 activities, each scored as 0 (activity could not be performed), 1 (modified method but achieved goal without physical assistance from another), or 2 (normal, achieved goal without assistance). The sum of these 17 scores was used to form a total score ranging from 0 (worst) to 34 (fully independent function). If fewer than 15 of the 17 activities were performed, the total score was considered missing. If 15 to 16 activities were performed, the total score was calculated by multiplying the sum of the scores in the x activities that were performed by 17/x. If an activity could not be performed due to disease progression/loss of ambulation, a score of 0 was assigned. Higher scores indicated better functioning. Least square (LS) mean and standard error (SE) were analyzed using a mixed model for repeated measure (MMRM).Baseline, Week 52Change From Baseline in 4-Stair Climb Velocity (4SCV) Assessment at Week 52The 4SCV (centimeters \[cm\]/second \[sec\]) was calculated as the ratio of the total height (cm) of stairs climbed divided by the number of seconds taken to complete the 4-stair climb.Baseline, Week 52Change From Baseline in the 10-Meter Walk/Run Test at Week 52The time (in sec) required for a participant to run or walk a distance of 10 meters as quickly as possible was calculated as velocity (meters/sec).Baseline, Week 52Change From Baseline in Time to Stand (TTSTAND) at Week 52The time (in sec) required for a participant to stand from supine position has been reported. A longer time taken reflected a worse outcome.Baseline, Week 52Time to Loss of Ambulation (LoA) From Baseline to Week 52Time (days) to LoA was defined as the number of days from randomization to the date of LoA, or all-cause death based on observed data, whichever occurred earlier during the on-study period. Median time (days) to LoA was calculated using Kaplan Meier Survival Estimates.Baseline to Week 52False611TrueFalseTrueFalse NCT05753462AVANCE1-1/2aSqy TherapeuticsOTHERPhase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy2024-03RECRUITINGThis is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophyINTERVENTIONALINCLUSION CRITERIA FOR PHASE 1: * Boys of ≥6 years of age and ≥ 16 kg body weight. * Ambulatory or non-ambulatory status, * Patients and, if minor, their legal guardians, who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures. * Diagnosed with Duchenne Muscular Dystrophy (DMD), genotypically confirmed with DMD mutations amenable to exon-51 skipping. * Stable hepatic and renal function. * Left ventricular ejection fraction (LVEF) at screening ≥40%. * If clinically indicated, approved concomitant treatment within standards of care guidelines for DMD, such as antihypertensive, vasodilators, lipid lowering, thyroid replacement, vitamins, mineral substitution, gastric protectors, and nutritional supplements. * Non-invasive mechanical ventilation is permissive if \< 16 h/day. * Being affiliated with a French social security. * Informed consent form signed by the patient or, if minor, by the legal guardian(s). INCLUSION CRITERIA FOR PHASE 2a: Patients must have completed Phase 1 of the study. EXCLUSION CRITERIA FOR PHASE 1 AND 2a: * Patient with any serious medical/surgical or psychiatric condition/illness/history that in the opinion of the investigator would jeopardize patient's safety or would interfere with the study assessments/results, including insufficient vaccination against infectious diseases as recommended by national guidelines, medical history of infection with Hepatitis B,C and HIV. * Patient with any known allergies to products likely to be used in the study (e.g., antiseptics, anesthetics), known hypersensitivity to any of the ingredients, or excipients of the study drug). * Patient who participated in other investigational study within the last three months, including those with investigational drugs that aim at restoring dystrophin expression such as other antisense oligomers. * Patient that received gene therapy. * Patient with intellectual disability or behavioral problem such that they cannot comply with the study procedure. * Patient with advanced cardiomyopathy and LVEF \< 40%. Patients with dysrhythmias and being treated for dysrhythmias. Patients with non-treated tachycardia. * Patient for which orthopedic surgery is planned during the time of the study. * Tracheostomized patients and dependent on invasive mechanical ventilation. Non-invasive mechanical ventilation ≥ 16 h/day. Predicted vital forced capacity \< 20%. Medical history with more than two respiratory decompensations requiring hospitalization during the previous year. No respiratory decompensation in the four months preceding enrolment. * Patients on medications that can restore dystrophin expression, tamoxifen and other drugs without indication for DMD or paediatric population. * Abnormal laboratory values in the clinically significant range.MALE2024-10-18T00:00:002023-02-062023-02-212024-03-282023-03-032024-04-012023-04-262025-022025-02trueFalseFalseThis is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophyDuchenne Muscular DystrophyPHASE1PHASE212Incidence of AEs in all participantsFrom baseline up to week 49Pharmacokinetic plasma concentration of SQY51 (µg/ml)From baseline up to week 49Change from baseline in time to rise from floor, time to complete 1-min, 6-min and 10-min walk in ambulant patients as well as MFM and PUL scores in both ambulant and non-ambulant patientsFrom baseline up to week 49Changes from baseline in skeletal muscle dystrophin expressionFrom baseline up to week 49False6FalseFalseTrueTrue NCT02235844IND 16026 DMD Single PatientAllergy and Asthma Consultants, Wichita, KansasOTHERAllogeneic Human Umbilical Cord Mesenchymal Stem Cells for a Single Male Patient With Duchenne Muscular Dystrophy (DMD)2019-09COMPLETEDThis research study is designed to evaluate the effects of human umbilical cord mesenchymal stem cells (UC-MSCs), on Duchenne's muscular dystrophy (DMD). The potential muscle regenerative and anti-inflammatory properties of UC MSCs position them as a possible treatment option for DMD. Both of these properties could lead to potential benefits for a DMD patient.INTERVENTIONALInclusion Criteria: * Duchenne's Muscular Dystrophy Exclusion Criteria: * NoneMALE2024-10-18T00:00:002014-09-082014-09-082019-09-122014-09-102019-09-162014-092017-09-302017-09-30falseTrueThis research study is designed to evaluate the effects of human umbilical cord mesenchymal stem cells (UC-MSCs), on Duchenne's muscular dystrophy (DMD). The potential muscle regenerative and anti-inflammatory properties of UC MSCs position them as a possible treatment option for DMD. Both of these properties could lead to potential benefits for a DMD patient.Duchenne's Muscular DystrophyPHASE11Adverse EventsNo occurrence of adverse events3 months after final treatmentChange from baseline of weight3 months after final treatmentChange of muscle diameter (circumferential measurements) from baseline3 months after final treatmentChange from baseline of Pulmonary Maximum Expiratory Pressure3 months after final treatmentChange from baseline of Pulmonary Forced Vital Capacity3 months after final treatmentMaximum Change from baseline of Predicted Inspiratory Pressure %3 months after final treatmentChange from baseline of Predicted Maximum Expiratory Pressure %3 months after final treatmentChange from baseline of Predicted Forced Vital Capacity %3 months after final treatmentFalse2831FalseFalseFalseFalse NCT036112441806-171-955 SNUHSeoul National University HospitalOTHERPrevention of Scoliosis in Patients With Duchenne Muscular Dystrophy Using Portable Seat Device2018-09RECRUITINGThis study will be conducted without blind method. The portable seat device devised to maintain lumbar lordosis will be made within 1 year after the loss of ambulation in the participants with Duchenne muscular dystrophy with prospective design. In the control group, the presence of scoliosis will be calculated 5 years after the loss of ambulation in participants with Duchenne muscular dystrophy through analysis of retrospective medical records who had not been applied the portable seat device.INTERVENTIONALInclusion Criteria: * Patients with the diagnosis of Duchenne muscular dystrophy diagnosed by genetic study were included. 1. Within 1 year after loss of ambulation (Vignos scale 7 points or more) 2. Condition without scoliosis 3. Conditions that do not have physical (eg, cerebral palsy) and mental (eg, moderate or higher intellectual disability) comorbid conditions that will affect the use of postural seat device. Exclusion Criteria: 1. Patients who do not agree to participate in this study 2. Patients not taking steroids 3. Patient with scoliosisMALE2024-10-18T00:00:002018-07-252018-08-012018-09-152018-08-022018-09-182018-08-072024-122024-12falseFalseFalseThis study will be conducted without blind method. The portable seat device devised to maintain lumbar lordosis will be made within 1 year after the loss of ambulation in the participants with Duchenne muscular dystrophy with prospective design. In the control group, the presence of scoliosis will be calculated 5 years after the loss of ambulation in participants with Duchenne muscular dystrophy through analysis of retrospective medical records who had not been applied the portable seat device.Scoliosis Neuromuscular;Duchenne Muscular Dystrophy;Lordosis LumbarNA98Incidence of scoliosisFrequency of scoliosis more than 10 degrees on spine x-ray on supine position5 years after loss of ambulationIncidence of scoliosisComparison of cobb's angle on spine x-ray on supine position"Day 0", "Month 6" "Month 12" "Month 18" "Month 24" "Month 30" "Month 36" "Month 42" "Month 48" "Month 54" "Month 60"False715FalseFalseFalseFalse NCT0278049212/0096 (09DN17)University College, LondonOTHEROutcome Measures in Duchenne Muscular Dystrophy: A Natural History Study2024-01COMPLETEDNovel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.OBSERVATIONALInclusion Criteria: For non-ambulant patients: 1. Children and teenagers aged between 5 and 18 years with DMD, who have lost the ability to walk 10 meters with no support 2. The diagnosis of DMD must be documented by genetic testing. If a muscle biopsy is available, it should contain less than 10% of revertant fibres 3. Patients should have deletions amenable of skipping of exons 51 or 53 or 45 or 44 or 46 or 50 or 52 4. Patients should be capable of sitting upright in a wheelchair for at least an hour 5. Patients should be stable from a respiratory point of view. Artificial ventilation with either Bipap or tracheostomy is not a contraindication to the study. 6. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age). 7. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category. For ambulant patients: 1. Ambulant children from 5 years old and teenagers with DMD, and potential candidates for future genetic therapies with antisense oligomer (AO) exon skipping 2. The diagnosis of DMD must be documented by MLPA or a standard genetic test for the disorder, genotypically confirmed to have an out-of-frame deletion(s) that could be corrected by skipping exon 51 or 53 or 45 or 44 or 46 or 50 or 52 3. If a muscle biopsy is available less than 10% revertant fibres 4. Ability to walk independently for at least 75 meters in 6 minutes at recruitment. 5. Patients should receive the standard of care for DMD as recommended by the NorthStar UK and TREAT-NMD (i.e.: on glucocorticoids treatment) 6. Sufficiently preserved pulmonary function (FVC \>30%) and absence of symptoms of cardiac failure 7. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age) 8. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category. For healthy volunteers and disease controls: 1. Participant are able to provide informed consent/assent for taking blood samples and/or performing limb MRI and/or physiotherapy assessment of the upper limb function 2. Participants have a neuromuscular disease that is not Duchenne Muscular Dystrophy or are a healthy volunteer with no neuromuscular disease 3. Able to have a blood sample taken Exclusion Criteria: For non-ambulant patients: 1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion) 2. Patients with severe intellectual impairment, who would be unable to cooperate with examination 3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study 4. Symptomatic cardiac failure 5. Recent (\< 6 months) upper limb surgery or trauma 6. Anticipated surgery for anytime during the duration of the study 7. None of the current treatments for DMD are exclusion criteria 8. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia. For ambulant patients: 1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion) 2. Patients with severe intellectual impairment, who would be unable to cooperate with examination 3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study 4. Recent surgery or anticipated for anytime during the duration of the study 5. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia. For healthy volunteers and disease controls 1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion) 2. Patients with severe intellectual impairment, who would be unable to cooperate with examination 3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study 4. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobiaMALE2024-10-18T00:00:002016-05-192016-05-202024-01-032016-05-232024-01-052012-04-112022-04-282022-04-28falseNovel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.Duchenne Muscular Dystrophy35Disease progressionEvaluate disease progression from ambulant to non-ambulant patients through a composite assessment toolup to 4 yearsTrue518FalseFalseTrueFalse NCT01761292DSC/11/2357/43ItalfarmacoINDUSTRYA Study to Assess Safety/Tolerability, pk, Effects on Histology, Clinical Parameters of Givinostat in Children With DMD2020-06COMPLETEDThe primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose. The secondary objectives of Parts 1 and 2 of the study were as follows: * To establish the effects of givinostat administered chronically at the selected daily dose on functional parameters, such as the 6-Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and performance of upper limb (PUL) * To establish the safety and tolerability of givinostat administered chronically at the selected daily dose in children with Duchenne muscular dystrophy (DMD) * To explore the effects of givinostat administered chronically at the selected daily dose on parameters such as magnetic resonance imaging (MRI) and biomarkers * To explore the acceptability/palatability of the oral suspension * To explore whether the effects of givinostat on disease progression may be related to the type of DMD mutation. The primary objective of the Extension of the study was to evaluate the safety and tolerability of long-term administration of givinostat administered chronically at the selected daily dose in children with DMD. The secondary objectives of the Extensions were: * To establish the effects of givinostat administered chronically at the selected daily dose on muscular functional parameters, such as the 6MWT, NSAA, and PUL (Extensions 1, 2, and 3) * To explore the effects of givinostat administered chronically at the selected daily dose on parameters such as MRI (Extension 1) * To collect information related to 2 biomarkers, latent Transforming growth factor β (TGFβ) binding protein 4 (LTBP4) and osteopontin genotype (at the beginning of Extension 2 only) * To collect information related to time to wheelchair and how much time the children spend in wheelchair (Extension 3 - only for the children who were not able to complete the 6MWT)INTERVENTIONALInclusion Criteria: 1. Male children aged 7 to \<11 years with an immunohistochemical and molecular diagnosis of DMD. 2. A parent/guardian and child can comply with all study evaluations/procedures and return for all study activities. 3. Able to complete the 2 screening 6MWTs with a minimal distance of at least 250 m each. In addition, the results of these tests must be within ±30 m of each other. 4. On a stable dose of systemic corticosteroids for at least 6 months. 5. At least 6 months worth of data on the 6MWT (this will be the "historical" 6MWT). From the moment of the historical 6MWT assessment(s), the child must not have received any compound that could potentially affect the 6MWT, with the exception of the stable steroid treatment. 6. Parent/guardian has signed the informed consent form and child has assented to be in the study (if applicable). Exclusion Criteria: 1. Initiation of systemic corticosteroid therapy within 6 months prior to the start of study drug or change in systemic corticosteroid therapy (e.g., initiation, change in type of drug, dose modification not related to body weight change, schedule modification, interruption, discontinuation, or re initiation) within 6 months prior to the start of study drug. 2. Use of any pharmacologic treatment, other than corticosteroids, that might have an effect on muscle strength since the time of the historical 6MWT and in any case within 3 months prior to the start of study treatment (e.g., growth hormone). Vitamin D, calcium, and integrators will be allowed. 3. Surgery that might have an effect on muscle strength or function within 3 months before study entry or planned surgery at any time during the study. 4. Exposure to another investigational drug since the time of the historical 6MWT and in any case within 3 months prior to the start of study treatment. 5. History of participation in gene therapy, cell-based therapy or oligonucleotide therapy. 6. Presence of other clinically significant disease that in the opinion of the investigator places the child in unacceptable risk for an adverse outcome or that could affect study results. 7. Symptomatic cardiomyopathy or heart failure. If child has a left ventricular ejection fraction \<45% at screening, the investigator should discuss inclusion of child in the study with the medical monitor. 8. Inadequate hematological function 9. Absolute neutrophil count: \<1.5 x 109/L 10. Platelets: \<100 x 109/L 11. Current or history of liver disease or impairment, including but not limited to an elevated total bilirubin. 12. Inadequate renal function, as defined by serum creatinine \>2 x the upper limit of normal. 13. Positive test for hepatitis B surface antigen, hepatitis C antibody, or human immunodeficiency virus at screening 14. A baseline QTc \>450 msec, (as the mean of 3 consecutive readings 5 minutes apart) or history of additional risk factors for torsades de pointes (e.g., heart failure, hypokalemia, family history of long QT syndrome). 15. Psychiatric illness/social situations rendering the potential child unable to understand and comply with the study protocol.MALE2024-10-18T00:00:002012-12-202013-01-032023-11-062013-01-042023-11-072013-042014-122017-11falseThe primary objective of Parts 1 and 2 of the study were to establish the histologic effects of givinostat administered chronically at the selected daily dose. The secondary objectives of Parts 1 and 2 of the study were as follows: * To establish the effects of givinostat administered chronically at the selected daily dose on functional parameters, such as the 6-Minute Walk Test (6MWT), North Star Ambulatory Assessment (NSAA), and performance of upper limb (PUL) * To establish the safety and tolerability of givinostat administered chronically at the selected daily dose in children with Duchenne muscular dystrophy (DMD) * To explore the effects of givinostat administered chronically at the selected daily dose on parameters such as magnetic resonance imaging (MRI) and biomarkers * To explore the acceptability/palatability of the oral suspension * To explore whether the effects of givinostat on disease progression may be related to the type of DMD mutation. The primary objective of the Extension of the study was to evaluate the safety and tolerability of long-term administration of givinostat administered chronically at the selected daily dose in children with DMD. The secondary objectives of the Extensions were: * To establish the effects of givinostat administered chronically at the selected daily dose on muscular functional parameters, such as the 6MWT, NSAA, and PUL (Extensions 1, 2, and 3) * To explore the effects of givinostat administered chronically at the selected daily dose on parameters such as MRI (Extension 1) * To collect information related to 2 biomarkers, latent Transforming growth factor β (TGFβ) binding protein 4 (LTBP4) and osteopontin genotype (at the beginning of Extension 2 only) * To collect information related to time to wheelchair and how much time the children spend in wheelchair (Extension 3 - only for the children who were not able to complete the 6MWT)Duchenne Muscular Dystrophy (DMD)PHASE1PHASE220Change From Baseline to Part 2 in the Value of Muscle Fiber Area (MFA) % Comparing the Histology Biopsies Before and After 12 Months of Treatment With Givinostat.The primary endpoint was the change in histology comparing the brachial biceps biopsies before and after ≥12 months of treatment with Givinostat. Muscle biopsies: A first brachial biceps biopsy (baseline) was taken prior to the first dose of study drug. A second brachial biceps biopsy was taken at Visit 10 (12 months) from the opposite arm. The muscle biopsy samples from the biceps muscle were collected by open biopsy. The minimum amount of muscle tissue required was a piece of muscle of at least 0.5 × 0.5 × 0.5 cm.After12 months of treatmentChange From Baseline to End of Study in Cross Sectional Area (CSA)This histological parameter was evaluated on the brachial biceps biopsies taken prior to the first dose of study drug and after 12 months of treatment with givinostat.At 12 monthsChange From Baseline to End of Study in Fibrosis, Necrosis, Fatty ReplacementThese histological parameters were evaluated on the brachial biceps biopsies taken prior to the first dose of study drug and after 12 months of treatment with givinostat.After 12 monthsChange From Baseline to End of Study in Number of Hypercontracted FibersThis histological parameter was evaluated on the brachial biceps biopsies taken prior to the first dose of study drug and after 12 months of treatment with givinostat. The number of fibers is calculated per microscopic field (20x).At 12 monthsChange From Baseline in Muscular Function After 12 Months of Treatment With Givinostat at the Selected Daily Dose Based on the 6-Minute Walk TestThis test measures the distance that a patient can quickly walk on a flat, hard surface in a period of 6 minutes. The 6-Minute Walk Test is a useful measure of functional capacity targeted at people with at least moderately severe impairment. The longer the walked distance the better the outcome.At 12 monthsChange From Baseline in Muscular Function After 12 Months of Treatment With Givinostat at the Selected Daily Dose Based on the North Star Ambulatory Assessment (NSAA)The NSAA, which is composed by 17 items, was graded, for each item, using the standard scorecard with each assessment rated as 0 - unable to achieve independently, 1 - modified method but achieves goal independent of physical assistance from another, or 2 - normal with no obvious modification of activity. The subscales scores are summed up to compute a total score, ranging from 0 to 34. The higher the total score, the better the outcome. The mean Change From Baseline to EoS in NSAA total score is reported hereunder.At 12 monthsChange From Baseline in Muscular Function After 12 Months of Treatment With Givinostat at the Selected Daily Dose Based on the Performance of Upper Limb (PUL)The PUL (version 1.2) was used to assess the change in motor performance of the upper limb over time in patients with Becker and Duchenne muscular dystrophy, from when they are still ambulant, until they loose all arm function when non-ambulant. The revised version of the PUL included 22 items. These include one entry item to define the starting functional level, and 21 items subdivided into: * shoulder level (Question B to E; minimum score 0 and maximum score 16) * elbow level (Question F to N; minimum score 0 and maximum score 34) * distal level dimension (Question O to V; minimum score 0 and maximum score 24) The total score is calculated by the sum of all the scores of the three subscales (total score range: 0-74) (scores from Question A "entry item" did not contribute). For all items, the higher the score, the better the outcome.At 12 monthsChange From Baseline in Muscular Function After After 24 (Extension 1), 36 (Extension 2), and 52 Months (Extension 3) of Treatment With Givinostat at the Selected Daily Dose Based on the 6-Minute Walk TestThis test measures the distance that a patient can quickly walk on a flat, hard surface in a period of 6 minutes. The 6-Minute Walk Test is a useful measure of functional capacity targeted at people with at least moderately severe impairment. The longer the walked distance the better the outcome.At 24, 36, and 52 monthsChange From Baseline in Muscular Function After 24 (Extension 1), 36 (Extension 2), and 52 Months (Extension 3) of Treatment With Givinostat at the Selected Daily Dose Based on the North Star Ambulatory Assessment (NSAA)The NSAA, which is composed by 17 items, was graded, for each item, using the standard scorecard with each assessment rated as 0 - unable to achieve independently, 1 - modified method but achieves goal independent of physical assistance from another, or 2 - normal with no obvious modification of activity. The subscales scores are summed up to compute a total score, ranging from 0 to 34. The higher the total score, the better the outcome. The mean Change From Baseline to EoS in NSAA total score is reported hereunder.At 24, 36, and 52 monthsChange From Baseline in Muscular Function After 24 (Extension 1), 36 (Extension 2), and 52 Months (Extension 3) of Treatment With Givinostat at the Selected Daily Dose Based on the Performance of Upper Limb (PUL)The PUL (version 1.2) was used to assess the change in motor performance of the upper limb over time in patients with Becker and Duchenne muscular dystrophy, from when they are still ambulant, until they loose all arm function when non-ambulant. The revised version of the PUL included 22 items taking. These include one entry item to define the starting functional level, and 21 items subdivided into: * shoulder level (Question B to E; minimum score 0 and maximum score 16) * elbow level (Question F to N; minimum score 0 and maximum score 34) * distal level dimension (Question O to V; minimum score 0 and maximum score 24) The total score is calculated by the sum of all the scores of the three subscales (total score range: 0-74) (scores from Question A "entry item" did not contribute). For all items, the higher the score, the better the outcome.At 24, 36, and 52 monthsNumber of Children Experiencing Treatment-emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and Type and Severity of TEAEsSummary of Treatment-emergent Adverse Events (TEAE) Reporting from Baseline to the End of Extension 3 (Month 52). In the analysis were included: Any TEAE, Any treatment-related TEAE, Any mild or moderate or severe TEAE, Any life-threatening or disabling TEAE, Any TEAE resulting in death, any serious adverse event, and Any TEAE resulting in study discontinuation.Part 1, Part 2, and Extensions 1, 2, and 3False711FalseFalseTrueFalse NCT02710591EspeRare_RIM_001EspeRare FoundationOTHERRimeporide in Patients With Duchenne Muscular Dystrophy2019-01COMPLETEDIn Duchenne Muscular Dystrophy (DMD) there is an imbalance between the levels of calcium and sodium in the muscles cells which is thought to be important in the damage which occurs overtime. Sodium/proton type 1 exchanger (NHE-1) inhibition is an innovative pathway that has proved to efficiently prevent the accumulation of muscle damage (inflammation and fibrosis) in animal models of muscular dystrophies and heart failure. Based on prior safety and efficacy results in animal and humans, NHE-1 inhibition with Rimeporide represents a new therapeutic approach with no restriction on age and on genetic subtypes which could be combined to other treatments that restore or augment dystrophin.This study examines the safety and tolerability and effects on the muscles of rimeporide, in patients aged 6 to 14 years with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy genetically confirmed; * Males between 6 and 14 years old; * Able to walk independently at least 75 meters; * Patients on a stable dose of corticosteroids at least 6 months prior to baseline; * Patients able to swallow capsules size 4 according to the parents and investigator opinion; * Willing and able to comply with all protocol requirements and procedures; * Signed informed consents by the parent(s)/legal guardian(s); * France only: Affiliated to or a beneficiary of a social security system Exclusion Criteria: * Patients with significant renal disease or impairment, with Glomerular Filtration Rate estimated using plasma cystatin C level using the Filler formula less than 90ml/min/1.73m2 * Current or history of liver disease or impairment, * History of any significant medical disorder which may confound the interpretation of either efficacy or safety data e.g. inflammatory, coagulation disease, unstable cardiac or respiratory disease * Acute illness within 4 weeks of the first administration of study medication which may interfere with study assessments; * Significant change of dosage and/or dosing regimens for corticosteroids planned for the duration of study medication; * Use of beta blockers / and ACEI or ARB unless at stable dose for at least 3 months prior to baseline; * Use of Proton Pump Inhibitors unless at a stable dose for at least 3 months prior to baseline * Use of aldosterone antagonists (i.e. spironolactone, eplerenone) within 3 months prior to first administration of study medication; * Use of anticoagulants, antithrombotics or antiplatelet agents, * Use of antibiotics with predominant renal secretion (e.g., cephalosporins), immunosuppressive agents exception corticosteroids, continuous treatment with non-steroidal, anti-inflammatory drugs (NSAIDs), or lithium; * Previous treatment with idebenone or other forms of Coenzyme Q10 within 1 month of the first administration of study medication; * Previous treatment with investigational drugs within 4 weeks (or 7 half-life if longer than 4 weeks) of the first administration of study medication including placebo; * A baseline QTc\>450msec,or history of risk factors for torsades de pointes (eg, heart failure, hypokalaemia, family history of long QT syndrome); * LVEF≤ 45% at screening or within the past 6 months and/or history of acute heart failure; * Ventilator dependent; * Known individual hypersensitivity to any of the ingredients/excipients of the study medication; * Patients with specific contraindication to MRI (e.g.: metallic foreign body, claustrophobia, etc.).MALE2024-10-18T00:00:002016-01-262016-03-112019-05-062016-03-172019-07-182016-032017-122018-02trueFalseFalseIn Duchenne Muscular Dystrophy (DMD) there is an imbalance between the levels of calcium and sodium in the muscles cells which is thought to be important in the damage which occurs overtime. Sodium/proton type 1 exchanger (NHE-1) inhibition is an innovative pathway that has proved to efficiently prevent the accumulation of muscle damage (inflammation and fibrosis) in animal models of muscular dystrophies and heart failure. Based on prior safety and efficacy results in animal and humans, NHE-1 inhibition with Rimeporide represents a new therapeutic approach with no restriction on age and on genetic subtypes which could be combined to other treatments that restore or augment dystrophin.This study examines the safety and tolerability and effects on the muscles of rimeporide, in patients aged 6 to 14 years with Duchenne Muscular Dystrophy (DMD).Muscular Dystrophy, DuchennePHASE120Number of Participants With Adverse EventsObservations are given for the safety population (all patients who received at least one dose of study drug). Categorical data are presented with the number of subjects with at least one event for the following selections: * treatment-emergent AEs (TEAEs) * study drug-related TEAEs (ADRs) * serious TEAEs * study drug-related serious TEAEs (serious ADRs) * TEAEs leading to withdrawal * study drug-related TEAEs (ADRs) leading to withdrawal * serious TEAEs leading to withdrawal * TEAEs leading to death as outcomeup to 6 weeks from first administrationFalse614TrueFalseFalseFalse NCT01931644SAN-BB-01Sanguine BiosciencesINDUSTRYAt-Home Research Study for Patients With Autoimmune, Inflammatory, Genetic, Hematological, Infectious, Neurological, CNS, Oncological, Respiratory, Metabolic Conditions2024-04COMPLETEDWe are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research. We make it easy for patients to contribute to research for medical conditions that matter most to them, regardless of their location or ability to travel.OBSERVATIONALInclusion Criteria: * All adults 18-100 years old * Able to provide proof of diagnosis * Live in USA Exclusion Criteria: * Younger than 18 years old * Receipt of blood products within 30 days of study blood collection * Receipt of investigational drug within 30 days of study blood collectionALL2024-10-18T00:00:002013-08-232013-08-262024-04-162013-08-292024-04-182013-072024-042024-04falseWe are the missing link in clinical trials, connecting patients and researchers seamlessly and conveniently using a mobile health platform to advance medical research. We make it easy for patients to contribute to research for medical conditions that matter most to them, regardless of their location or ability to travel.All Diagnosed Health Conditions;ADD/ADHD;Alopecia Areata;Ankylosing Spondylitis;Asthma;Atopic Dermatitis Eczema;Beta Thalassemia;Bipolar Disorder;Breast Cancer;Celiac Disease;Cervical Cancer;Chronic Inflammatory Demyelinating Polyneuropathy;Chronic Kidney Diseases;Chronic Obstructive Pulmonary Disease;Colon Cancer;Colorectal Cancer;Crohn's Disease;Cystic Fibrosis;Depression;Diabetes Mellitus;Duchenne Muscular Dystrophy;Endometriosis;Epilepsy;Facioscapulohumeral Muscular Dystrophy;G6PD Deficiency;General Anxiety Disorder;Hepatitis B;Hereditary Hemorrhagic Telangiectasia;HIV/AIDS;Human Papilloma Virus;Huntington's Disease;Idiopathic Thrombocytopenic Purpura;Insomnia;Kidney Cancer;Leukemia;Lung Cancer;Lupus Nephritis;Lymphoma;Melanoma;Multiple Myeloma;Multiple Sclerosis;Myositis;Myotonic Dystrophy;Ovarian Cancer;Pancreatic Cancer;Parkinson's Disease;Polycystic Kidney Diseases;Prostate Cancer;Psoriasis;Psoriatic Arthritis;Rosacea;Scleroderma;Sickle Cell Anemia;Sickle Cell Trait;Sjogren's Syndrome;Skin Cancer;Spinal Muscular Atrophy;Systemic Lupus Erythematosus;Thrombotic Thrombocytopenic Purpura;Trisomy 21;Ulcerative Colitis17667Biospecimen & Clinical Data CollectionTo collect enough biospecimens and associated clinical data to allow researchers to come to statistically relevant scientific results10 yearsTrue18100FalseFalseFalseFalse NCT01539772PITT0112Cooperative International Neuromuscular Research GroupNETWORKBecker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping2018-06UNKNOWNThis is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.OBSERVATIONALInclusion Criteria: * Male * Age 4 or older * Diagnosis of BMD with an in-frame deletion in the dystrophin gene, where the boundaries of the mutations are confirmed. Exclusion Criteria: • Investigator assessment of inability to comply with protocolMALE2024-10-18T00:00:002012-02-222012-02-272018-06-142012-02-282018-06-152012-042018-082018-08trueThis is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.Becker Muscular Dystrophy85Strength and functionAnnualQuality of lifeThese questionnaires include: * Pediatric Quality of Life Inventory (PedsQL) * Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)AnnualMedical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac testsAnnualFalse4FalseFalseFalseFalse NCT06337669OSRSCP-GUP21006IRCCS San RaffaeleOTHERCharacterization of DupEx2 Duchenne Muscular Dystrophy2024-03RECRUITINGTo characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is milder than classic DMD, 3) to perform whole genome sequencing (WGS) to characterize DNA breakpoints to correlate with the phenotype; 4) to collect material for future proteomic/transcriptomic studies. Background/Rationale DMD is caused by mutations in the DMD gene and in 11% of cases is due to duplications. The most promising therapeutic approaches include mutation-specific therapies. Notably, there is increasing evidence that specific groups of mutations may underlie different disease trajectories compared to the "average" DMD population. It is thus mandatory to have more information on genotype-phenotype correlations and patterns of progression related to different genotypes. Dup2 is the most common DMD duplication and the only one for which a AAV-mediated exon skipping study is ongoing. Despite most case series and databases ascribe Dup2 to severe phenotype, our preliminary findings sustain that these patients have collectively a milder progression of the disease and in 1/3 of cases a significantly milder phenotype. Moreover, our attempts to reveal mechanism involved in attenuating the phenotype would confute the hypothesis of alternative spicing transcripts as previously described for DMD with deletion of exon 2. Research design and methods Clinical information regarding a cohort of 26 Italian Dup2 patients will be collected. Differences in time to loss of ambulation compared to a DMD control group will be achieved. Finally, we will retrieve DNA for correlative WGS studies. Anticipated output We expect that Dup2 patients present a milder DMD phenotype , which might be predicted by genomic studies.OBSERVATIONALInclusion Criteria: * pediatric and adult DMD patients harboring a genetically confirmed duplication of the exon 2 in the dystrophin gene Exclusion Criteria: * patients lacking genetic confirmation of Dup2 mutationMALE2024-10-18T00:00:002024-03-182024-03-222024-03-222024-03-292024-03-292022-01-312025-01-312025-01-31FalseFalseTo characterize the clinical phenotype and possible predictive/prognostic factors of patients with Duchenne muscular dystrophy (DMD) due to duplication of exon 2 (Dup2). Specifically, we aim 1) to describe the progression of motor, respiratory and cardiac function; 2) to enquire if the phenotypic spectrum of Dup2 is milder than classic DMD, 3) to perform whole genome sequencing (WGS) to characterize DNA breakpoints to correlate with the phenotype; 4) to collect material for future proteomic/transcriptomic studies. Background/Rationale DMD is caused by mutations in the DMD gene and in 11% of cases is due to duplications. The most promising therapeutic approaches include mutation-specific therapies. Notably, there is increasing evidence that specific groups of mutations may underlie different disease trajectories compared to the "average" DMD population. It is thus mandatory to have more information on genotype-phenotype correlations and patterns of progression related to different genotypes. Dup2 is the most common DMD duplication and the only one for which a AAV-mediated exon skipping study is ongoing. Despite most case series and databases ascribe Dup2 to severe phenotype, our preliminary findings sustain that these patients have collectively a milder progression of the disease and in 1/3 of cases a significantly milder phenotype. Moreover, our attempts to reveal mechanism involved in attenuating the phenotype would confute the hypothesis of alternative spicing transcripts as previously described for DMD with deletion of exon 2. Research design and methods Clinical information regarding a cohort of 26 Italian Dup2 patients will be collected. Differences in time to loss of ambulation compared to a DMD control group will be achieved. Finally, we will retrieve DNA for correlative WGS studies. Anticipated output We expect that Dup2 patients present a milder DMD phenotype , which might be predicted by genomic studies.Muscular Dystrophy, Duchenne26Age at loss of ambulationAge at loss of ambulation12 monthsTime test for motor functionThe 6 Minute Walk test (6MWT) and North Star Ambulatory Assessment (NSAA) including sub-items such as Time to Rise from the floor.12 monthsRespiratory functionForced Vital Capacity (FVC) Liters (L) and % of predicted; time to FVC% \< 50%. Time to Nocturnal Ventilation initiation12 monthsFalseFalseFalseFalseFalse NCT02515669CN001-006Hoffmann-La RocheINDUSTRYStudy of an Investigational Drug, RO7239361 (BMS-986089), in Ambulatory Boys With DMD2020-10TERMINATEDThe purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.INTERVENTIONALInclusion Criteria: * Diagnosed with DMD * Able to walk without assistance * Able to walk up 4 stairs in 8 seconds or less * Weigh at least 15 kg * Taking corticosteroids for DMD Exclusion Criteria: * Ejection fraction \< 55% on echocardiogram, based on central read * Any behavior or mental issue that will affect the ability to complete the required study procedures * Previously or currently taking medications like androgens or human growth hormone * Use of a ventilator during the day * Unable to have blood samples collected or receive an injection under the skin * Treatment with exon skipping therapies 6 months prior to study start * Treatment with ataluren or any investigational drug currently or within 5 half-lives prior to study startMALE2024-10-18T00:00:002015-07-292015-08-032020-10-132015-08-052020-11-042015-12-022018-02-082020-04-15trueTrueFalseThe purpose of this study is to determine the safety and tolerability of RO7239361 in boys with Duchenne Muscular Dystrophy with any genetic mutation.Muscular Dystrophy (DMD)PHASE1PHASE243Safety Summary for the 24 Week Double-Blind PhasePercentage of participants with fatalities, adverse event (AEs) and serious adverse events (SAEs) up to Week 24. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline to Week 24Safety Summary up to Week 72Percentage of participants with fatalities, adverse event (AEs) and serious adverse events (SAEs) up to Week 72. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline to Week 72Maximum Observed Serum Concentrations (Cmax) of RO7239361 at Steady State for 4 mg QW, 12.5 mg QW and 35 mg QW Doses.PK parameter estimates at steady state. Steady state was achieved following approximately 12 weeks QW administration. Panel: 1 = 4mg QW, 2 = 12.5mg QW, 3 = 35mg QW Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361. No participants received the Panel 2 20mg dose.Day 1: predose, 3, 6, 72 and 96 hours (h) postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseMaximum Observed Serum Concentrations (Cmax) of RO7239361 at Steady State for 50 mg QW Dose.PK parameter estimates at steady state following approximately 12 weeks QW administration. Panel 3 = 50 mg QW Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseTime of Maximum Observed Serum Concentrations (Tmax) of RO7239361 at Steady State for 4 mg QW, 12.5 mg QW and 35 mg QW Doses.PK parameter estimates at steady state. Steady state was achieved following approximately 12 weeks QW administration. Panel: 1 = 4mg QW, 2 = 12.5mg QW, 3 = 35mg QW. Results for the Panel 3 50mg QW dose level are represented in Outcome Measure 6. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseTime of Maximum Observed Serum Concentrations (Tmax) of RO7239361 at Steady State for 50 mg QW Dose.PK parameter estimates at steady state following approximately 12 weeks QW administration. Panel 3 = 50 mg QW Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseArea Under the Concentration-Time Curve From Time Zero to Time of Next Dosing (AUCtau) of RO7239361 at Steady State for 4 mg QW, 12.5 mg QW and 35 mg QW Doses.PK parameter estimates at steady state. Steady state was achieved following approximately 12 weeks QW administration. Panel: 1 = 4mg QW, 2 = 12.5mg QW, 3 = 35mg QW Results for the Panel 3 50mg QW dose level are represented in Outcome Measure 8. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseArea Under the Concentration-Time Curve From Time Zero to Time of Next Dosing (AUCtau) of RO7239361 at Steady State for 50 mg QW Dose.PK parameter estimates at steady state following approximately 12 weeks QW administration. Panel 3 = 50 mg QW Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predoseRO7239361 Trough ConcentrationsTrough concentrations of RO7239361 at different dose levels. Panel 1 = 4mg, Panel 2 = 12.5mg and 20mg, Panel 3 = 35mg, Expansion Panels = 35mg and 50mg. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 1: predose, 3, 6, 72 and 96 h postdose; Days 8, 15 and 22: predose; Day 29: predose and 96 h postdose; Weeks 12 and 24: predosePercentage of Participants With Positive Anti-RO7239361 Antibodies (ADA) Assessment, Double-Blind PhaseA positive ADA sample is defined as one in which the presence of detectable ADAs is confirmed to be specific to RO7239361. A participant is considered as ADA positive if, after initiation of treatment, they have an ADA positive relative to baseline sample. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 8 through Week 24, baseline and on-study information represented in table.Percentage of Participants With Positive Anti-RO7239361 Antibodies (ADA) Assessment up to Week 72A positive ADA sample is defined as one in which the presence of detectable ADAs is confirmed to be specific to RO7239361. A participant is considered as ADA positive if, after initiation of treatment, they have an ADA positive relative to baseline sample. Double-blind phase data for placebo participants is not included. Placebo participants in each arm moved on to RO7239361 upon entering the open label phase. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 8 through Week 72, baseline and on-study information represented in table.Serum Concentration of Free Myostatin in the Double-Blind PhaseParticipants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 24Percent Inhibition of Free Myostatin in the Double-Blind PhaseParticipants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 24Serum Concentration of Drug-Myostatin Complex in the Double-Blind PhaseParticipants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 24Fold Change From Baseline in Contractile Versus Non-contractile Content for Muscles in the Right Thigh in the Double-Blind PhaseRatio of contractile vs non-contractile content is contractile content / non-contractile content. Fold change from baseline of the ratio is defined as the ratio of fold change from baseline of contractile content vs fold change from baseline of non-contractile content. Right thigh measurements. W12 = Week 12, W24 = Week 24. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 24Change From Baseline in Thigh Muscle Maximal Cross Sectional Area (CSAmax) in the Double-Blind PhaseRight thigh measurements. W12 = Week 12, W24 = Week 24. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 24Percentage of Participants With Positive Anti-RO7239361 Antibodies (ADA) Assessment, Whole StudyA positive ADA sample is defined as one in which the presence of detectable ADAs is confirmed to be specific to RO7239361. A participant is considered as ADA positive if, after initiation of treatment, they have an ADA positive relative to baseline sample. Double-blind phase data for placebo participants are not included in this Whole Study outcome measure, but are reported in the outcome measure specific to the double-blind period. At the end of the double-blind period participants in the placebo arm switched to one of the RO7239361 arms upon entering the open label phase. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Day 8 through Week 228, baseline and on-study information represented in table.Serum Concentration of Free Myostatin, Whole StudyDouble-blind phase data for placebo participants are not included in this Whole Study outcome measure, but are reported in the outcome measure specific to the double-blind period. At the end of the double-blind period participants in the placebo arm switched to one of the RO7239361 arms upon entering the open label phase. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 252Percent Inhibition of Free Myostatin, Whole StudyDouble-blind phase data for placebo participants are not included in this Whole Study outcome measure, but are reported in the outcome measure specific to the double-blind period. At the end of the double-blind period participants in the placebo arm switched to one of the RO7239361 arms upon entering the open label phase. Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 252Serum Concentration of Drug-Myostatin Complex, Whole StudyParticipants in the Placebo arm received placebo during the double-blind (DB) period (up to Week 24) and received RO7239361 during the open label (OL) phase. PFS in table row title indicates when study drug was changed from vial to prefilled syringe (PFS). Participants in Panel 1 received 4 mg RO7239361; participants in Panel 2 received either 12.5 mg (weight between 15 and 45 kg) or 20 mg (weight \>45 kg) RO7239361, and participants in Panel 3 and the Expansion Panel received either 35 mg (weight between 15 and 45 kg) or 50 mg (weight \>45 kg) RO7239361.Baseline through Week 252False510TrueFalseTrueFalse NCT01183767SUNIMUDCharite University, Berlin, GermanyOTHERSunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy2021-07COMPLETEDThe aim of this multicentre, prospective, double blind, placebo controlled, randomized pilot study is to investigate safety and tolerance of Epigallocatechin-Gallate (EGCG, the major polyphenol in green tea) in patients with muscular dystrophy of the Duchenne type. In a second step the investigators want to investigate the effect of EGCG on the course of the Duchenne condition.INTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy * age 5-10 years * ability to walk without support * informed consent by the parents Exclusion Criteria: * another serious organic disease * further primary psychiatric or neurological diseases * long-term intake of liver-toxic medicinesALL2024-10-18T00:00:002010-08-172010-08-172021-07-282010-08-182021-07-292010-12-302018-09-062018-09-06falseThe aim of this multicentre, prospective, double blind, placebo controlled, randomized pilot study is to investigate safety and tolerance of Epigallocatechin-Gallate (EGCG, the major polyphenol in green tea) in patients with muscular dystrophy of the Duchenne type. In a second step the investigators want to investigate the effect of EGCG on the course of the Duchenne condition.Duchenne Muscular DystrophyPHASE2PHASE333safety and tolerabilitysafety and tolerability in terms of number of adverse events in which a causal relationship with the test substance cannot be excluded, and GLDH values.12 monthsefficacychanges in the means of the 6 minute walk test (baseline to visit after month 36).36 monthsFalse510FalseFalseFalseFalse NCT01610440BKCR-DMD-1(Ⅰ)Shenzhen Beike Bio-Technology Co., Ltd.INDUSTRYSafety and Efficacy of Umbilical Cord Mesenchymal Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy2012-11UNKNOWNDuchenne muscular dystrophy (DMD), an X-linked recessive genetic disease always progressed slowly，tends to leading proximal skeletal muscle atrophy and weakness of limbs, as well as impaired respiratory muscle and cardiac muscle. To a large extent, patients always lose motor function gradually and die for heart failure or severe infection at the end stage of DMD. At present, the treatment strategy relies on heteropathy accompanied with rehabilitation training. However, the therapeutic effect remains extremely limited. Human umbilical cord mesenchymal stem cells (hUC-MSCs) have been evidenced to improve motor function, increase muscle strength and reduce abnormal levels of related enzymes, such as creatine kinase (CK), lactate dehydrogenase (LDH), alanine aminotransferase (ALT) and aspartate aminotransferase (AST). This study is aimed to explore the safety and efficacy of hUC-MSCs transplantation for DMD.INTERVENTIONALInclusion Criteria: * Aged 5-12 years * Clinical manifestation, enzymology, electromyogram, gene type confirmed the diagnose of Duchenne muscular dystrophy * Sign the consent form and follow the clinic trail procedure Exclusion Criteria: * Not Duchenne muscular dystrophy * Any history of hypersensitivity to serum products,or other know drug and food allergy * Combined Pneumonia or other Severe systemic bacteria infection * HIV+, TPPA +， patients diagnosed as HBV or HCV * Tumor Markers + * Severe psychotic patients, cognitive dysfunction * Coagulation disorders * Uncontrolled hypertension after treatment，blood pressure≥180mmHg/110 mmHg * Other severe systemic or organic disease * Enrollment in other trials in the last 3 months * Received any stem cell therapy in past 6 months * Other criteria that investigator consider improper for inclusionALL2024-10-18T00:00:002012-05-212012-06-012012-11-282012-06-042012-11-302011-102013-032013-10falseDuchenne muscular dystrophy (DMD), an X-linked recessive genetic disease always progressed slowly，tends to leading proximal skeletal muscle atrophy and weakness of limbs, as well as impaired respiratory muscle and cardiac muscle. To a large extent, patients always lose motor function gradually and die for heart failure or severe infection at the end stage of DMD. At present, the treatment strategy relies on heteropathy accompanied with rehabilitation training. However, the therapeutic effect remains extremely limited. Human umbilical cord mesenchymal stem cells (hUC-MSCs) have been evidenced to improve motor function, increase muscle strength and reduce abnormal levels of related enzymes, such as creatine kinase (CK), lactate dehydrogenase (LDH), alanine aminotransferase (ALT) and aspartate aminotransferase (AST). This study is aimed to explore the safety and efficacy of hUC-MSCs transplantation for DMD.Duchenne Muscular DystrophyPHASE1PHASE215Activities of Daily Living(ADL)scale1 year after treatmentIncidences of Adverse Event and Serious Adverse Event1 year after treatmentChange from baseline in CK1 year after treatmentChange from baseline in LDH1 year after treatmentChange from baseline in ALT1 year after treatmentChange from baseline in AST1 year after treatmentChange from baseline to manual muscle test(MMT)1 year after treatmentChange from baseline in electromyography(EMG)1 year after treatmentFalse512FalseFalseFalseFalse NCT03529240KA-17070Hacettepe UniversityOTHERKinesiology Taping in Duchenne Muscular Dystrophy: Effects on Performance, Gait Characteristics, and Energy Consumption2018-05COMPLETEDInvestigators investigated that the effects of kinesilogy taping on performance, energy consumption and gait characteristics in patients with Duchenne Muscular DystrophyINTERVENTIONALInclusion Criteria: * Duchenne Muscular Dystrophy diagnosis, * age 5 to 14 years, * able to cooperate with instructions of physiotherapist, * able to walk independently, * climb 4 steps independently/with minimal support from handrails. Exclusion Criteria: * severe contracture at lower extremities, * other disease except for DMD, and * history of any injury or orthopaedic/neurologic surgery within the past 6 months.MALE2024-10-18T00:00:002018-05-062018-05-172018-05-172018-05-182018-05-182017-06-102017-08-052017-10-05falseFalseFalseInvestigators investigated that the effects of kinesilogy taping on performance, energy consumption and gait characteristics in patients with Duchenne Muscular DystrophyPerformance;Energy;Gait;Duchenne Muscular DystrophyNA45Six Minute Walk TestSix Minute Walk Test was used commonly in DMD were found to be valid, reliable and easy to apply in the clinic. Children were asked to walk during 6 minutes as fast as they can at a corridor specified by two cones and walking distances were recorded as meter (m) for 6MWT. The time passed during timed performance tests were recorded as seconds.6 minuteEnergy ConsumptionPhysiologic Consumption Index (PCI) was used to evaluate energy consumption of children during 6MWT. energy consumption was calculated by using the formula of PCI (walking heart rate)-(resting heart rate)/(walking speed)6 minutesGaitGait analysis of the children was performed by footprint method on 10-meters powdered floor. First and last 2 meters of this floor were dissociated from the assessment, and both the right and left stride lengths, both right and left foot angles, and stride width were analyzed in the middle 6-meter section.. Stride length was measured by measuring the distance between right and left midpoint heels. Double stride length was sum of right and left stride length. Stride width was measured by horizontal distance between heel midpoints. Foot angles were measured by a goniometer considering the line between the first and second metatarsal heads and the heel midpoints of both feet separately 24. The number of steps during 6MWT was also calculated by pedometer (Omron, Walking style One 2.0 HJ-320-E) and recorded.2 minutesTimed Performance TestAscending-descending standard 4 steps, walking 10m, standing from lying position were used in order to assess the performance of children.The time passed during timed performance tests were recorded as seconds.10 minutesFalse514FalseFalseFalseFalse NCT047824401455Marmara UniversityOTHERThe Effect of Telerehabilitation of Patients With Duchenne Muscular Dystrophy2021-03UNKNOWNThe aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the interventionINTERVENTIONALInclusion Criteria: * Patients with Duchenne muscular dystrophy Exclusion Criteria: * Patients without the ability of independent ambulationMALE2024-10-18T00:00:002021-03-022021-03-022021-03-022021-03-042021-03-042021-042021-082021-09falseFalseFalseThe aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the interventionDuchenne Muscular DystrophyNA20Quick motor function test2 monthsFalse618FalseFalseFalseFalse NCT01954940# 12/17EChildren's Hospital of Eastern OntarioOTHERWhole Body Vibration Therapy in Boys With Duchenne Muscular Dystrophy2018-08COMPLETEDWhole-body vibration therapy (WBVT) is a novel, non-pharmacological intervention aimed at improving muscle strength and endurance as well as bone density. It holds promise for children with neuromuscular disorders such as Duchenne muscular dystrophy (DMD) since muscle weakness results not only from muscle breakdown but also physical inactivity and muscle disuse atrophy. Weak DMD patients may increasingly limit their physical activity due to fear of falling or loss of independence (e.g. difficulty rising to stand without assistance). Prolonging the length of time boys with DMD are ambulatory is important for delaying complications of this disease (lung hypoventilation, scoliosis) as well as maintaining bone health. We propose to conduct a pilot study of WBVT in young boys with Duchenne muscular dystrophy (DMD). The primary outcome will be to document safety and feasibility of WBVT in this patient population. The secondary outcomes will evaluate changes in muscle strength and endurance. Bone health will also be examined as part of routine clinical care. The study will include 20 ambulatory boys with DMD; patients will be randomized (1:1 allocation) into 2 groups: WBVT treatment or no WBVT treatment (controls). Treatment groups will consist of 10 boys undergoing daily WBVT in an 8-week, open-label trial.INTERVENTIONALInclusion Criteria: 1. Diagnosis of Duchenne muscular dystrophy confirmed by at least one of the following: * Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical presentation consistent with typical DMD * Positive gene deletion test (missing one or more exons) in the central rod domain (exons 25-60) of dystrophin, where reading frame can be predicted as "out-of-frame", and clinical presentation consistent with typical DMD * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, or other mutation resulting in a stop codon mutation) definitively associated with DMD, and clinical presentation consistent with typical DMD 2. Age between 5 - 14 yrs old (inclusive) 3. Positive Gower sign (indicating ability to rise from the floor \& presence of proximal muscle weakness). 4. Able to walk 10 meters in \<12 seconds 5. Able to stand upon WBVT plate (with knees flexed) for entire treatment protocol (i.e. 15-minutes) 6. Stable absolute dose of glucocorticoids (i.e. prednisone or deflazacort) for at least 3 months prior 7. Stable absolute doses of all medication that may affect muscle function (i.e. coenzyme Q10, green tea extract, creatine, arginine, glutamine, nutritional supplements, etc.) for at least 3 months prior 8. Stable absolute dose of all medication that may affect bone metabolism (i.e. vitamin D and calcium supplementation) for at least 3 months prior Exclusion Criteria: 1. Clinical presentation, genetic testing and/or muscle biopsy consistent with Becker muscular dystrophy 2. History of recent surgery (within past 6-months) 3. History of a recent fracture (long-bone or vertebral) within past 6-months. 4. Acute inflammatory processes of lower extremities (e.g. cellulitis, etc) due to risk of pain and/or worsening inflammatory process 5. History of venous thrombosis (theoretically risk of inducing thromboembolic event). 6. History of kidney or bladder stones 7. History of uncontrolled seizures or severe migraines 8. History of cardiac arrhythmia 9. Intracranial pathology or hardware (e.g. ventriculoperitoneal shunt, cochlear implant). 10. Use of any investigational or experimental products within last 6-months and/or concomitant participation in another study 11. Inability or refusal to follow the study requirements (e.g. autism, severe cognitive or behaviour problems) 12. Inability or refusal to provide informed consent (parent) and/or assent (child)MALE2024-10-18T00:00:002013-09-132013-10-042018-08-282013-10-072018-08-312013-032017-032017-03falseWhole-body vibration therapy (WBVT) is a novel, non-pharmacological intervention aimed at improving muscle strength and endurance as well as bone density. It holds promise for children with neuromuscular disorders such as Duchenne muscular dystrophy (DMD) since muscle weakness results not only from muscle breakdown but also physical inactivity and muscle disuse atrophy. Weak DMD patients may increasingly limit their physical activity due to fear of falling or loss of independence (e.g. difficulty rising to stand without assistance). Prolonging the length of time boys with DMD are ambulatory is important for delaying complications of this disease (lung hypoventilation, scoliosis) as well as maintaining bone health. We propose to conduct a pilot study of WBVT in young boys with Duchenne muscular dystrophy (DMD). The primary outcome will be to document safety and feasibility of WBVT in this patient population. The secondary outcomes will evaluate changes in muscle strength and endurance. Bone health will also be examined as part of routine clinical care. The study will include 20 ambulatory boys with DMD; patients will be randomized (1:1 allocation) into 2 groups: WBVT treatment or no WBVT treatment (controls). Treatment groups will consist of 10 boys undergoing daily WBVT in an 8-week, open-label trial.Duchenne Muscular DystrophyNA4Assess the safety of using whole body vibration therapy in boys with Duchenne muscular dystrophy. To assess whether whole body vibration therapy can improve muscle strength and prolong ambulation from baseline to 8 weeks of therapy. To asses.Is WBVT safe, convenient and well-tolerated when administered daily to ambulatory to boys with DMD?8 weeksDoes WBVT result in any change in muscle strength.Does WBVT results in any measurable change in muscle strength measured by the maximum resistance of deltoid, hip flexor and knee extensor (measured with microFET2 dynamometer) and grip strength (measured by Jamar hand-held dynamometer)8 weeksDoes WBVT result in any muscle function change.Does WBVT results in any measurable change in muscle function as measured by timed functional testing (timed 10m walk test; timed 4-stair climb; timed Gower manoeuvre, 6-minute walk test)?8 weeksDoes WBVT result in any measurable change in muscle endurance.Does WBVT result in any measurable change in muscle endurance (total number of steps taken each day, measured by pedometer)?8 weeksQuality of life changes.Does WBVT result in any change in patient and family reported quality of life report? Measured by the Peds Q of L questionnaire.8 weeksGait changes.Does WBVT result in any change in patient's gait (as measured by Gangway gait analysis and Leonardo force plate analysis)8 weeksBone healthDoes WBVT result in any change in bone health indices (as measured by pQCT and routine skeletal imaging)8 weeksFalse814TrueFalseTrueFalse NCT066063404658-403Sarepta Therapeutics, Inc.INDUSTRYA Long-term Observational Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice2024-08ENROLLING_BY_INVITATIONThis is a phase 4, multicenter, prospective, observational study designed to collect both medical history data and prospective data on Duchenne Muscular Dystrophy (DMD) treatment outcomes in participants receiving eteplirsen, golodirsen, and casimersen in routine clinical practice. Participants in this study will have been prescribed eteplirsen, golodirsen, or casimersen commercially prior to entry into the study.OBSERVATIONALKey Inclusion Criteria: * Is willing to provide informed assent or consent (if applicable) and has a parent(s) or legal guardian(s) or is a participant ≥18 years of age who is (are) willing to provide informed consent for the participant to participate in the study and comply with study data collection procedures. * Has an established clinical diagnosis of DMD, as documented prior to screening by a genetic report. * Receiving, or initiating treatment with, eteplirsen, golodirsen, or casimersen at the time of observational study enrollment. Note: Participants with a prescription for eteplirsen, golodirsen, or casimersen at enrollment must initiate the exon-skipping therapy within 6 months of the date of enrollment or will no longer be eligible for this study. Note: Enrollment of eteplirsen participants has been completed, no additional participants will be enrolled. Key Exclusion Criteria: * Is currently participating in any DMD interventional study at the time of this study enrollment. * Has declined to provide consent for collection of their genetic data. * Has a medical condition or confounding circumstances that, in the opinion of the Investigator, might compromise: 1. The participant's ability to comply with the protocol-required procedures 2. The participant's wellbeing or safety, and/or 3. The clinical interpretability of the data collected from the participant. Other inclusion/exclusion criteria may apply.MALE2024-10-18T00:00:002024-08-082024-09-192024-09-192024-09-232024-09-232019-01-072033-12-312033-12-31TrueFalseThis is a phase 4, multicenter, prospective, observational study designed to collect both medical history data and prospective data on Duchenne Muscular Dystrophy (DMD) treatment outcomes in participants receiving eteplirsen, golodirsen, and casimersen in routine clinical practice. Participants in this study will have been prescribed eteplirsen, golodirsen, or casimersen commercially prior to entry into the study.Duchenne Muscular Dystrophy300Loss of Ambulation (LOA)Up to 5 yearsTime to Rise From the Floor (Supine to Stand)Up to 5 yearsTime to Walk/Run 10 MetersUp to 5 yearsPerformance of Upper Limb Module for DMD 2.0 (PUL 2.0) Entry Item AUp to 5 yearsPulmonary Function, as Measured by Forced Vital Capacity (FVC) (% Predicted)Up to 5 yearsCardiac Function, Including Left Ventricular Ejection Fraction (LVEF) as Measured by Echocardiogram (ECHO)Up to 5 yearsFalseFalseFalseFalseFalse NCT05688072Treatment of Duchenne syndromeCairo UniversityOTHERTrunk Oriented Exercises Versus Whole-body Vibration for Duchenne Muscular Dystrophy2023-04COMPLETEDThe abdominal muscles play an important role in stabilizing the trunk and providing postural stability. Children with Duchene muscular dystrophy have weak muscles, which may impair postural adjustments. These postural adjustments are required for gait and dynamic balance during the daily living activities.INTERVENTIONALInclusion criteria: * diagnosed as Duchenne muscular dystrophy, * aged from 6 to 10 years, * having grade 3+ muscle strength in lower limbs and trunk muscles. * had functional range of motion for upper and lower limb joints, * able to walk alone level I and II of Ambulation function classification system for DMD (AFCSD) * Exclusion criteria: * congenital or acquired skeletal deformities or cardiopulmonary dysfunction, * had undergone previous orthopedic surgery in lower limbs, * had abnormal motor development or neurological disease that affect balance * and gait, and * behavioral problems causing inability to cooperate during the study.ALL2024-10-18T00:00:002023-01-082023-01-082023-04-172023-01-182023-04-182023-01-152023-03-152023-04-15FalseFalseThe abdominal muscles play an important role in stabilizing the trunk and providing postural stability. Children with Duchene muscular dystrophy have weak muscles, which may impair postural adjustments. These postural adjustments are required for gait and dynamic balance during the daily living activities.Muscular Dystrophy, Duchenne TypeNA30abdominal muscle thicknessThe thickness of four abdominal muscles will be measured with ultrasonography (device type GE Logiq P6) with a frequency of 7.5 MHz. The probe will be placed 2 or 3 cm from the midline, using the umbilicus as a landmark, then will be moved in a semi-circular motion until the deepest image on the screen, the TA, will be visible. To confirm this position and measure the thickness, a skin marker pen will be used. The probe will be then moved in an oblique manner to detect the thickness of the EO, IO, RA, and TA. A large amount of contact gel will be used, and the probe pressure will be adjusted to obtain optimal values of muscle thickness. After image capture, a vertical line will drawn between the superficial and deep aponeurosis to determine muscle thickness.change from base line at 4 weeks.balance assessmentthe Biodex Balance System (BBS) (Biodex medical system, Shirley, New York) will be used for balance assessment. Before the evaluation procedures all children will be given an explanatory session to be aware about the different test steps, also the support rails and biofeedback display screen will be adjusted for each child to ensure comfort and safety during the test procedure, then each child will be trained 1 min for adaptation to the machine. During the test, children will be instructed to stand on the platform in the most comfortable posture, and maintain their visual level by focusing straight ahead on the monitor. The platform will be unlocked and children will be allowed to adjust their foot placement until a comfortable standing position will be achieved while they simultaneously maintained a moving pointer at the center point on the monitor and children will be encouraged to maintain the moving pointer at the center point throughout the test.change from base line at 4 weeks.False610FalseFalseFalseFalse NCT03373968DSC/14/2357/51ItalfarmacoINDUSTRYGivinostat in Duchenne's Muscular Dystrophy Long-term Safety and Tolerability Study2023-11ENROLLING_BY_INVITATIONThis is an open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD (Duchenne's muscular dystrophy) patients who have been previously treated in one of the GIVINOSTAT studies.INTERVENTIONALInclusion Criteria: 1. Must have participated in one of the previous studies with GIVINOSTAT in DMD and have attended the End of Study Visit or must have been screened in study DSC/14/2357/48 and met: * all the inclusion criteria and none of the exclusion criteria, * had a baseline vastus lateralis muscle fat fraction (VL MFF) assessed by MRS in the range ≤5% or \>30%, i.e. included in"off-target" group, * never been randomized because, the enrollment in the off target group was completed. 2. Aged ≥6 years old; 3. Are able to give informed assent and/or consent in writing signed by the subject and/or parent/legal guardian (according to localregulations); 4. Subjects must be willing to use adequate contraception: * Contraceptive methods must since the previous GIVINOSTAT study through 3 months after the last dose of study drug, and include the following: * True abstinence (absence of any sexual intercourse), when in line with the preferred and usual lifestyle of the subject. * Periodic abstinence (e.g. calendar, ovulation, symptothermal, postovulation methods) and withdrawal are not acceptable methods of contraception. * Condom with spermicide and the female partner must use an acceptable method of contraception, such as an oral, * transdermal, injectable or implanted steroid-basedcontraceptive, or a diaphragm or a barrier method of contraception in conjunction with spermicidal jelly such asfor example cervical cap with spermicide jelly. Exclusion Criteria: 1. Use of any pharmacologic treatment, other than corticosteroids, that might have had an effect on muscle strength or function within 3 months prior to be enrolled in this study (e.g., growth hormone); Vitamin D, calcium, and any other supplements will be allowed; 2. Use of any current investigational drug other than Givinostat; 3. Have presence of other clinically significant disease, which, in the Investigator's opinion, could adversely affect the safety of the subject, making it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results; 4. Have a diagnosis of other uncontrolled neurological diseases or presence of relevant uncontrolled somatic disorders that are not related to DMD; 5. Have platelets count, White Blood Cell and Hemoglobin at screening \< Lower Limit of Normal (LLN)\* (for abnormal screening laboratory test results (\<LLN), the platelets count, White Blood Cell and Hemoglobin will be repeated once; if the repeat test result is still \<LLN, then exclusionary); 6. Have Triglycerides \> 300 mg/dL (3.42 mmol/L) in fasting condition at screening visit\* (for abnormal screening laboratory test results (\>300 mg/dL), the triglycerides will be repeated once; if the repeat test result is still \>300 mg/dL, then exclusionary); 7. Have inadequate renal function, as defined by serum Cystatin C \>2 x the upper limit of normal (ULN) at screening visit\*. If the value is \>2 x ULN, the serum Cystatin C will be repeated once; if the repeated test result is still \>2 x ULN, the subject should be excluded); 8. Have heart failure (New York Heart Association Class III or IV) 9. Have a current liver disease or impairment, including but not limited to an elevated total bilirubin\* (i.e. \> 1.5 x ULN), unless secondary to Gilbert disease or pattern consistent with Gilbert's; 10. Have a baseline QTcF \>450 msec, (as the mean of 3 consecutive readings 5 minutes apart) or history of additional risk factors for torsades de pointes (e.g., heart failure, hypokalemia, or family history of long QT syndrome); 11. Have a psychiatric illness/social situation rendering the potential subject unable to understand and comply with the muscle function tests and/or with the study protocol procedures. 12. Have any hypersensitivity to the components of study medication; 13. Have a sorbitol intolerance or sorbitol malabsorption or have the hereditary form of fructose intolerance. * the Investigators to evaluate these exclusion criteria can use the laboratory results obtained within 5 months from V1, to allow the continuity of the treatment. It is worth noting, as soon as the site will receive the laboratory results done in screening/baseline (Visit 1) visit they will check the GIVINOSTAT dose and modify it as per protocol safety rules and/or dosage modifications rules.MALE2024-10-18T00:00:002017-12-042017-12-112023-11-062017-12-142023-11-072017-10-242025-122025-12falseTrueFalseThis is an open label, long-term safety, tolerability, and efficacy study of GIVINOSTAT in all DMD (Duchenne's muscular dystrophy) patients who have been previously treated in one of the GIVINOSTAT studies.Duchenne Muscular DystrophyPHASE2PHASE3206Incidence of Treatment-Emergent Adverse Events [Safety and Tolerability]Type, incidence, and severity of treatment related/not related adverse events(AEs) and serious adverse event (SAEs)Through study completion, an average of 1 yearFalse7FalseFalseFalseFalse NCT04254172C3391005PfizerINDUSTRYA Low Interventional Study to Monitor Activity Using Wearable Sensors in Duchenne Muscular Dystrophy2021-10TERMINATEDThe purpose of this low interventional study is to collect data on everyday movement in boys with Duchenne muscular dystrophy (DMD) using wearable activity sensors. The activity sensors could provide useful information beyond what is currently collected by functional (movement, strength) assessments in clinic. This information can help with the understanding of the impact of DMD, and perhaps with how possible treatments can affect this impact.OBSERVATIONALInclusion Criteria: * Diagnosis of Duchenne muscular dystrophy confirmed by medical history and genetic testing * Body weight between 15 and 50 kg * Receipt of glucocorticoids for 6 months and a stable daily dose for at least 3 months prior to study entry * Ability to rise from floor within seven (7) seconds and ability to walk Exclusion Criteria: * Current exposure to systemic immunosuppressant agents other than glucocorticoids. * Prior exposure to any gene therapy agent, including exon-skipping and missense agents. * Exposure to other investigational drugs within 30 days or 5 half-lives, whichever is longer. * Any injury which may impact functional testing per investigator's judgement. Previous injuries must be fully healed prior to consenting. Prior lower limb fractures must be fully healed and at least 3 months from injury date at screening. * Any planned surgeries which may impact physical activity and performance. * Presence or history of musculoskeletal or neurological disease in addition to DMD. * Any known allergies or skin reactions to stainless steel, versaflex, and silicon that may cause possible discomfort by wearable sensors. * Evidence or history of clinically significant hematological, renal, endocrine, pulmonary, gastrointestinal, cardiovascular, hepatic, cancer, autoimmune or allergic disease that may interfere with the study conduct as per investigator's judgment, excluding untreated, asymptomatic, seasonal allergies at time of screening. * Investigator site staff members directly involved in the conduct of the study and their family members, site staff members otherwise supervised by the investigator, or participants who are Pfizer employees, including their family members, directly involved in the conduct of the study.MALE2024-10-18T00:00:002020-01-312020-01-312021-10-142020-02-052021-10-152020-02-192020-08-192020-08-19falseFalseTrueThe purpose of this low interventional study is to collect data on everyday movement in boys with Duchenne muscular dystrophy (DMD) using wearable activity sensors. The activity sensors could provide useful information beyond what is currently collected by functional (movement, strength) assessments in clinic. This information can help with the understanding of the impact of DMD, and perhaps with how possible treatments can affect this impact.Duchenne Muscular Dystrophy (DMD)2Mean change from baseline and variability of activity measuresbaseline, 3, 6, 9, and 12 monthsMean change from baseline in functional assessment scores obtained in the clinicbaseline, 3, 6, 9, and 12 monthsComparison of mean changes from baseline and correlation coefficient between activity monitoring data and functional data obtained in clinicbaseline, 3, 6, 9, and 12 monthsFalse412FalseFalseTrueFalse NCT01856868454352University of California, DavisOTHERUse of (-)-Epicatechin in the Treatment of Becker Muscular Dystrophy (Pilot Study)2021-11COMPLETED(-)-Epicatechin will be evaluated for the treatment of progressive muscle loss and impaired skeletal muscle function in Becker Muscular Dystrophy (BMD) patients.INTERVENTIONALInclusion Criteria: * Male * Age 18 years to 60 years * Average to low daily physical activity * Ability to ambulate for 75 meters without assistive devices * Diagnosis of BMD confirmed by at least one the following: * Dystrophin immunofluorescence and/or immunoblot showing partial dystrophin deficiency, and clinical picture consistent with typical BMD, or * Gene deletions test positive (missing one or more exons) of the dystrophin gene, where reading frame can be predicted as 'in-frame', and clinical picture consistent with typical BMD, or * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, or other mutation resulting in a stop codon mutation) that can be definitely associated with BMD, with a typical clinical picture of BMD, or * Positive family history of BMD confirmed by one of the criteria listed above in a sibling or maternal uncle, and clinical picture typical of BMD. * Nutritional, herbal and antioxidant supplements taken with the intent of maintaining or improving skeletal muscle strength or functional mobility have been discontinued at least 2 weeks prior to screening (daily multivitamin use is acceptable). * Hematology profile within normal range * Baseline laboratory safety chemistry profile within normal range * No plan to change exercise regimen during study participation Exclusion Criteria: * Currently enrolled in another treatment clinical trial. * History of significant concomitant illness or significant impairment of renal or hepatic function. * Use of regular daily aspirin or other medication with antiplatelet effects within 3 weeks of first dose of study medication. * Regular participation in vigorous exercise. * Symptomatic heart failure with cardiac ejection fraction \<25%MALE2024-10-18T00:00:002013-05-092013-05-142021-11-222013-05-172021-12-222013-052018-092018-09(-)-Epicatechin will be evaluated for the treatment of progressive muscle loss and impaired skeletal muscle function in Becker Muscular Dystrophy (BMD) patients.Becker Muscular DystrophyPHASE1PHASE27Change From Baseline in Muscle Tissue PGC1alpha (AU) at 8 WeeksWestern blot measurement of the transcriptional coactivator gene PGC1alpha involved in mitochondrial biogenesis will be assessed using relative band intensities of the pre-treatment (Baseline) and post-treatment (8 Weeks) specimens with digitally quantified using ImageJ software.Baseline and 8 WeeksMean Change From Baseline in Muscle Tissue AMPK at 8 WeeksWestern blot measurement of AMPK will be assessed using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue LKB1 at 8 WeeksWestern blot measurement of LKB1 will be assessed using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software) .8 weeksMean Change From Baseline in Cristae-associated Mitofillin Levels at 8 WeeksWestern blot measurement of Mitofillin will be assessed using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software.8 weeksMean Change From Baseline in Muscle Tissue Follistatin at 8 WeeksRegulators of muscle growth and regeneration including follistatin will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue Myostatin at 8 WeeksRegulators of muscle growth and regeneration including myostatin will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue Myogenin at 8 WeeksModulators of skeletal muscle regeneration by Western will include myogenin will be assessed using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue Myf5 at 8 WeeksModulators of skeletal muscle regeneration My5 will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue MyoD at 8 WeeksModulators of skeletal muscle regeneration MyoD will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue MEF2a at 8 WeeksModulators of skeletal muscle regeneration MEF2a will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue Dysferlin at 8 WeeksStructure associated indicators including dysferlin will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeksMean Change From Baseline in Muscle Tissue Utrophin at 8 WeeksStructure associated indicators including utrophin will be assessed by Western using relative band intensities of the pre-treatment and post-treatment specimens with digitally quantified using ImageJ software).8 weeks-(-)Epicatechin PharmacokineticsPharmacokinetics sequentially after dosing will be measured.8 WeeksParticipants With Abnormal Treatment-Related Laboratory AssessmentsStandard safety monitoring of plasma hematologic, hepatologic, renal and metabolic parameters will be assessed. Abnormal will be defined as values outside of typical range for patients with Becker Muscular Dystrophy.8 weeksChange From Baseline in Knee Extension at 8 WeeksKnee extension will be assessed using an isokinetic dynamometer.Baseline and 8 WeeksChange From Baseline in 6-Minute Walk Distance at 8 WeeksMuscle function will be assessed by measuring the 6-minute walk distanceBaseline and 8 WeeksChange From Baseline in Stand From Supine at 8 WeeksMuscle burst function will be assessed by time function tests.Baseline and 8 WeeksChange From Baseline in Elbow Flexion at 8 WeeksElbow flexion will be assessed using an isokinetic dynamometer.Baseline and 8 WeeksFalse1860FalseFalseFalseFalse NCT02740972NS-065/NCNP-01-201NS Pharma, Inc.INDUSTRYSafety and Dose Finding Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)2021-11COMPLETEDThe main objective of this study is to evaluate the safety of a high (80mg/kg) and low (40mg/kg) dose of NS-065/NCNP-01 delivered as an intravenous infusion in patients with Duchenne Muscular Dystrophy (DMD) amendable to exon 53 skipping. Additional objectives include tolerability, muscle function and strength, pharmacokinetics and pharmacodynamics.INTERVENTIONALInclusion Criteria: * Male ≥ 4 years and \<10 years of age * Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 53 to restore the dystrophin mRNA reading frame; * Able to walk independently without assistive devices; * Ability to complete the time to stand, time to run/walk and time to climb assessments; * Stable dose of glucocorticoid for at least 3 months Exclusion Criteria: * Acute illness within 4 weeks prior to the first dose of study medication; * Evidence of symptomatic cardiomyopathy. \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; * Severe allergy or hypersensitivity to medications; * Severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; * Previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; * Patient is taking any other investigational drug currently or within 3 months prior to the start of study treatment; or * Patient has had surgery within the 3 months prior to the first anticipated administration of study medication or surgery is planned for anytime during the duration of the study; * Patient has previously participated in this study or any other study during which NS-065/NCNP-01 was administered.MALE2024-10-18T00:00:002016-03-232016-04-122021-11-122016-04-152021-12-072016-122018-032018-04trueTrueFalseThe main objective of this study is to evaluate the safety of a high (80mg/kg) and low (40mg/kg) dose of NS-065/NCNP-01 delivered as an intravenous infusion in patients with Duchenne Muscular Dystrophy (DMD) amendable to exon 53 skipping. Additional objectives include tolerability, muscle function and strength, pharmacokinetics and pharmacodynamics.Duchenne Muscular DystrophyPHASE216Incidence of Adverse Events as Assessed by CTCAE v4.0.Treatment emergent adverse events (TEAEs) were summarized for Period 1 by comparing low dose to high dose to placebo and for Period 2 between the low dose cohort and the high dose cohort. TEAEs were summarized both at the patient level for number of TEAEs, highest severity, relationship, action and outcome and at the TEAE level (summarizing events) by organ system and preferred term TEAE as well as severity, relationship, action and outcome. The Medical Dictionary for Regulatory Activities (MedDRA) version 20.1 was used and the Common Terminology Criteria for Adverse Events (CTCAE) grading.24 weeks of treatmentDystrophin Production by Western BlotPercentage normal dystrophin production in muscle biopsies from study participants at baseline and after 24 weeks treatment was measured by Western blot. To analyze dystrophin induction, biopsies were taken from a biceps muscle at baseline and the other biceps muscle after 24 weeks of treatment. Muscle samples were snap frozen and delivered to a central laboratory. All laboratory researchers remained blinded to sample identity. Dystrophin protein levels were assessed using standard curves on each gel (range from 0-25% of normal levels) generated by mixing 5 normal control samples with one DMD sample.Baseline and 24 weeks of treatmentDystrophin Production by RT-PCR for mRNA - Percentage of Exons Skipped - MolarityThe alteration of mRNA splicing was measured by RT-PCR of dystrophin mRNA transcripts from a patient muscle biopsy at baseline and after 24 weeks treatment. To analyze dystrophin induction, biopsies were taken from a biceps muscle at baseline and the other biceps muscle after 24 weeks of treatment. Muscle samples were snap frozen and delivered to a central laboratory. All laboratory researchers remained blinded to sample identity. For RT-PCR, bands corresponding to specific versions of the spliced dystrophin mRNA were visualized by gel electrophoresis, and the amounts of different mRNA isoforms were compared.Baseline and 24 weeks of treatmentDystrophin Production by Mass SpectrometryThe production of dystrophin protein was measured by stable isotope mass spectrometry methods from a patient muscle biopsy at baseline and after 24 weeks treatment. To analyze dystrophin induction, biopsies were taken from a biceps muscle at baseline and the other biceps muscle after 24 weeks of treatment. Muscle samples were snap frozen and delivered to a central laboratory. All laboratory researchers remained blinded to sample identity. Dystrophin peptides were identified and quantified using reversed-phase nanoflow high-performance liquid chromatography with high resolution Mass Spectrometry.Baseline and 24 weeks of treatmentDystrophin Production by ImmunofluorescenceThe production of dystrophin protein was measured by immunofluorescence staining methods from a patient muscle biopsy at baseline and after 24 weeks treatment. To analyze dystrophin induction, biopsies were taken from a biceps muscle at baseline and the other biceps muscle after 24 weeks of treatment. Muscle samples were snap frozen and delivered to a central laboratory. All laboratory researchers remained blinded to sample identity. Immunofluorescence staining for dystrophin was performed on serial muscle biopsy sections in duplicate.Baseline and 24 weeks of treatmentChange From Baseline in Muscle Strength as Measured by Quantitative Muscle Testing (QMT).A secondary efficacy endpoint was compared to Pre-Infusion Visit: quantitative muscle testing (QMT).Baseline and 24 weeks of treatmentChange From Baseline in Distance Traveled in the Six-Minute Walk Test (6MWT).A secondary efficacy endpoint was compared to Pre-Infusion Visit: Six-Minute Walk Test (6MWT).Baseline and 24 weeks of treatmentChange From Baseline in Time to Climb 4 Stairs (TTCLIMB).A secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Climb 4 Stairs (TTCLIMB).Baseline and 24 weeks of treatmentChange From Baseline in Time to Climb 4 Stairs (TTCLIMB) VelocityA secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Run/Walk 10 meters (TTRW). The results were converted into velocity (meter/time).Baseline and 24 weeks of treatmentChange From Baseline in Time to Run/Walk 10 Meters (TTRW).A secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Run/Walk 10 meters (TTRW).Baseline and 24 weeks of treatmentChange From Baseline in Time to Run/Walk 10 Meters (TTRW) Velocity.A secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Run/Walk 10 meters (TTRW). The results were converted into velocity (meter/time).Baseline and 24 weeks of treatmentChange From Baseline in Time to Stand (TTSTAND)A secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Stand (TTSTAND)Baseline and 24 weeks of treatmentChange From Baseline in Time to Stand (TTSTAND) VelocityA secondary efficacy endpoint was compared to Pre-Infusion Visit: Time to Stand (TTSTAND).The results were converted into velocity (rise/time).Baseline and 24 weeks of treatmentChange From Baseline in North Star Ambulatory Assessment (NSAA) Score.The NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.Baseline and 24 weeks of treatmentFalse49FalseFalseFalseFalse NCT03907072WVE-DMDX51-003Wave Life Sciences Ltd.INDUSTRYEfficacy and Safety Study of WVE-210201 (Suvodirsen) With Open-label Extension in Ambulatory Patients With Duchenne Muscular Dystrophy2021-04TERMINATEDThis is a Phase 2/3, multicenter, randomized, double-blind, placebo-controlled study with an open-label extension period to evaluate the safety and efficacy of WVE-210201 (suvodirsen) in ambulatory male pediatric patients with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping intervention (DYSTANCE 51)INTERVENTIONALInclusion Criteria: 1. Diagnosis of DMD based on clinical phenotype with increased serum creatine kinase 2. Documented mutation in the Dystrophin gene associated with DMD that is amenable to exon 51 skipping 3. Ambulatory male, able to walk independently for at least 10 meters in 10 seconds or less at the time of Screening visit (performed as part of the NSAA) 4. Stable pulmonary and cardiac function, as measured by: 1. Reproducible percent predicted forced vital capacity (FVC) ≥50% 2. Left ventricular ejection fraction (LVEF) \>55% in patients \<10 years of age and \>45% in patients ≥10 years of age, as measured (and documented) by echocardiogram 5. Currently on a stable corticosteroid therapy regimen, defined as initiation of systemic corticosteroid therapy occurred ≥6 months prior to Screening, and no changes in dosing ≤3 months prior to Screening visit Exclusion Criteria: 1. Cardiac insufficiency: 1. Severe cardiomyopathy that, in the opinion of the Investigator, prohibits participation in this study; however, cardiomyopathy that is managed by angiotensin-converting-enzyme (ACE) inhibitors or beta blockers is acceptable provided the patient meets the LVEF inclusion criterion 2. Any other evidence of clinically significant structural or functional heart abnormality 3. A cardiac troponin I value \> 0.2 ng/mL 2. Need for daytime mechanical or non-invasive ventilation OR anticipated need for daytime mechanical or non-invasive ventilation within the next year, in the opinion of the Investigator. Nighttime non-invasive ventilation is permitted 3. Received prior treatment with drisapersen or with an investigational peptide-conjugated phosphorodiamidate morpholino oligomer (PPMO) 4. Received prior treatment with gene therapy for DMD 5. Received treatment with ataluren or eteplirsen within the 14 weeks prior to the planned Baseline biopsy collection 6. Received any investigational drug within 3 months or 5 half-lives, whichever is longer, prior to the planned Baseline biopsy collectionMALE2024-10-18T00:00:002019-04-052019-04-052021-04-292019-04-082021-05-202019-09-042019-12-162020-01-09trueTrueFalseThis is a Phase 2/3, multicenter, randomized, double-blind, placebo-controlled study with an open-label extension period to evaluate the safety and efficacy of WVE-210201 (suvodirsen) in ambulatory male pediatric patients with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping intervention (DYSTANCE 51)Duchenne Muscular DystrophyPHASE2PHASE36Change From Baseline in Dystrophin Level (% Normal Dystrophin)US/other regions (as applicable)Day 1 to Week 12, Week 22, or Week 46Change From Baseline in North Star Ambulatory Assessment (NSAA)European Union (EU)/other regions (as applicable)Day 1 through Week 48Change From Baseline in North Star Ambulatory Assessment (NSAA)US/other regions (as applicable)Day 1 through Week 48Change From Baseline in Dystrophin Level (% Normal Dystrophin)European Union (EU)/other regions (as applicable)Day 1 to Week 12, Week 22, or Week 46Change From Baseline in Upper Limb Proximal StrengthDay 1 through Week 48Change From Baseline in 4-stair ClimbDay 1 through Week 48Change From Baseline in the 10-meter Walk/Run TestDay 1 through Week 48Change From Baseline in Forced Vital CapacityDay 1 through Week 48Change From Baseline in the 95th Percentile of Stride VelocityDay 1 through Week 48Change From Baseline in NSAALong-term evaluation, open label from Week 48 through Week 96Day 1 through Week 96False512FalseFalseTrueFalse NCT03779646PekingUMCH-DMDPeking Union Medical College HospitalOTHERBisoprolol in DMD Early Cardiomyopathy2022-09UNKNOWNThis study aimed to use cardiac magnetic resonance imaging (CMR) to evaluate the efficacy and safety of bisoprolol therapy for boys with Duchenne muscular dystrophy(DMD) and preserved ejection fraction. On top of angiotensin-converting enzyme inhibitor (ACEI) , half of the participants will receive bisoprolol in combination, while the other half will not receive any beta-blocker.INTERVENTIONALInclusion Criteria: * Older than(including) 7 years old * A definite diagnosis of DMD with muscle pathology confirming the expression of dystrophin lower than 5% and/or confirmed mutations in the DMD gene using a clinical accepted technique that completely defines the mutation. * Using ACEI or ARB for more than 1 month * Confirmed myocardial damage in one or more left ventricular segments evident by late gadolinium enhancement and preserved left ventricular systolic function(\>45%) by cine cardiac MR in 45 days * Normal renal function * Holter and blood pressure shows no contraindication of using bisoprolol Exclusion Criteria: * Having metal implanted in body * Having claustrophobia * Allergic to gadolinium * Complicated with other cardiovascular diseases * Medical history or Holter show bradyarrhythmia like II/III degree atrioventricular block, sick sinus syndrome etc. * Systolic blood pressure lower than 90mmHg or rest heart rate lower than 75bpm * Having COPD or asthma history * Having other complications: tumor, endocrine diseases * Having beta blockers therapy * Planned operation in the future 12 months * Allergic to bisoprololMALE2024-10-18T00:00:002018-12-142018-12-162022-09-272018-12-192022-09-282019-01-162023-07-012024-07-01FalseFalseThis study aimed to use cardiac magnetic resonance imaging (CMR) to evaluate the efficacy and safety of bisoprolol therapy for boys with Duchenne muscular dystrophy(DMD) and preserved ejection fraction. On top of angiotensin-converting enzyme inhibitor (ACEI) , half of the participants will receive bisoprolol in combination, while the other half will not receive any beta-blocker.Duchenne Muscular Dystrophy;Cardiomyopathy, DilatedPHASE2PHASE342Calculate the change of left ventricle global longitudinal strain in cardiac MRCalculate the change of left ventricle global longitudinal strain in cardiac MR from baseline to 12months for each patientsbaseline and 12 monthsCalculate the change of left ventricular ejection fraction in cardia MRCalculate the change of left ventricular ejection fraction in cardia MR from baseline to 12months for each patientsbaseline and 12 monthsCalculate the change of ventricle late gadolinium enhancement area in cardia MRCalculate the change of ventricle late gadolinium enhancement area in cardia MR from baseline to 12months for each patientsbaseline and 12 monthsCalculate the change of the level of high-sensitivity cardiac troponin ICalculate the change of the level of high-sensitivity cardiac troponin I from baseline to 6months and 12months for each patientsbaseline and 6months, 12 monthsCalculate the change of the level of NT-proBNPCalculate the change of the level of NT-proBNP from baseline to 6months and 12months for each patientsbaseline and 6months, 12 monthsCalculate the change of E/A ratio assessed by echocardiographyCalculate the change of diastolic dysfunction (E/A ratio) assessed by echocardiography from baseline to 12months for each patientsbaseline and 12 monthsChange of the resting heart rateCalculate the change of the resting heart rate from baseline to 6months and 12months for each patientsbaseline and 6months, 12 monthsFalse7FalseFalseFalseFalse NCT01000012A101-0501-08cuMentor Worldwide, LLCINDUSTRYCompassionate Use of the Becker Expander/Breast Implant2013-10NO_LONGER_AVAILABLETo provide access of the Becker Expander/Breast implant to women who do not meet inclusion/exclusion criteria of the Becker Continued Access Study Patients' physician will contact Mentor to request use of the device and each request will be reviewed by Mentor, an IRB, and the FDA on a case-by-case basisEXPANDED_ACCESSInclusion Criteria: * Women who require a Becker Expander/Breast implant who do not meet inclusion/exclusion criteria of the Becker Continued Access StudyFEMALE2024-10-18T00:00:002009-10-212009-10-212013-10-282009-10-222013-10-29To provide access of the Becker Expander/Breast implant to women who do not meet inclusion/exclusion criteria of the Becker Continued Access Study Patients' physician will contact Mentor to request use of the device and each request will be reviewed by Mentor, an IRB, and the FDA on a case-by-case basisBreast ReconstructionFalseFalseFalseFalse NCT0546444616969557-1784Lokman Hekim ÜniversitesiOTHER_GOVExamination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy2022-07COMPLETEDThe aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms. Forty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.OBSERVATIONALInclusion Criteria: * Having been diagnosed with DMD by a specialist physician as a result of gene analysis and/or muscle biopsy, * Being between the ages of 5-18, * Volunteering by parents to participate in the study and reading and signing the informed consent form. Exclusion Criteria: * Having a diagnosed neuromuscular disease other than DMD and/or with DMD, * Having a diagnosed psychiatric and/or metabolic disease, * Having a diagnosis of autism spectrum disorders, * Presence of congenital and/or acquired anomalies that may affect communication, * The family and/or the child has a problem of cooperation in completing the assessments for any reason, * Using a catheter and/or a diaper all day, * Having difficulty in understanding and speaking the Turkish language.MALE2024-10-18T00:00:002022-06-252022-07-142022-07-142022-07-192022-07-192021-10-012022-06-012022-06-20falseFalseFalseThe aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms. Forty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.Duchenne Muscular Dystrophy;Lower Urinary Tract Symptoms;Muscle Weakness;Posture Disorders in Children;Lumbar Lordosis;Pelvic Floor Muscle Weakness;Quality of Life45Lower urinary system symptomsIt will be investigated how many of the children with DMD participating in the study will have lower urinary system symptoms.1 hourLower urinary system dysfunctionIt will be investigated how many of the children with DMD participating in the study will have lower urinary system dysfunction.1 hourMuscle strength and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and muscle strength in children with DMD.1 hourFunctionality and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and functionality in children with DMD.1 hourPosture and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and posture in children with DMD.1 hourPelvic floor muscle control and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and pelvic floor muscle control in children with DMD.1 hourActivities of daily living and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and activities of daily living in children with DMD.1 hourQuality of life and lower urinary system symptomsIt will be investigated whether there is a relationship between lower urinary tract symptoms and quality of life in children with DMD.1 hourUrologist evaluationIt will investigate whether children with DMD have ever been to a urologist in their life.1 hourFalse518FalseFalseFalseFalse NCT03589612GO 16/740-2Hacettepe UniversityOTHERRegression of Hamstring Flexibility and Performance in Children With Duchenne Muscular Dystrophy2019-09COMPLETEDInvestigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.OBSERVATIONALInclusion Criteria: * To be a Duchenne Muscular Dystrophy diagnosis, * Being in the ambulatory period and climbing four steps independently, * to be Level 1 and Level 2 according to Brooke Lower Functional Classification Test * To be able to cooperate * No any severe contracture in the lower limbs which may prevent assessments, Exclusion Criteria: * Children who fail to meet these criteria study.MALE2024-10-18T00:00:002018-07-052018-07-052019-09-272018-07-182019-09-302018-03-082019-01-242019-01-24FalseFalseInvestigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy;Performance;Flexibility60Popliteal Angle TestThe Popliteal Angle Test was used to assess hamstring flexibility. Child asked to rise lower leg straight. Incomplete angle degree of full extension is popliteal angle.5 minute6 Minute Walk Test6 Minute Walk Test was used to assess performance with children Duchenne MUscular Dystropy.6 minuteNorth Star Ambulation AssessmentThe North Star Ambulatory Assessment (NSAA) is used to assess mobility for in ambulatory children with DMD for 5 years. NSAA is consist of 17 items from stand to run.20 minute514FalseFalseFalseFalse NCT0000464635RC18_9844_COPP-MSRennes University HospitalOTHERPreventive Use of COrticosteroids During the Post-Partum in Relapsing MS Patients (COPP-MS)2020-11COMPLETEDMultiple Sclerosis (MS) is most prevalent among women of childbearing age. The post-partum (PP) period is a critical phase in MS patients, during which a recrudescence of disease activity is expected. Different strategies have been assessed in the prevention of post-partum relapse. High dose methylprednisolone was evaluated in a case control study with historical controls but the positive results have not been confirmed. In this study, the main objective will be to compare the risk of relapse in the 6 months PP period between patients treated systematically by high dose methylprednisolone after delivery compared to patients who didn't receive a systematic treatment. The second objective will be focused on the comparison of the disease activity and disability progression in patients who have resumed early a Disease Modifying Drug (DMD) after delivery vs patients who haven't.OBSERVATIONALInclusion Criteria: * Relapsing MS patients according to MacDonald criteria 2010 * Age between 15 and 49 years old at the pregnancy * Age between 18 and 51 years old when filling the questionnaire of the study * At least one full pregnancy with live birth after the beginning of the MS diagnosis * At least one neurological visit during the 12 months period after the delivery * At least one neurological visit per year in the 12 months preceding the pregnancy * Pregnancy must occur between 01/2007 and 01/2017 In case of several pregnancies per woman, only the first one occurring in the period will be analyzed * Having received information on the protocol and not having expressed opposition to participating in the study. Exclusion Criteria: * Patients who have received Immunoglobulines or plasma exchanges after the delivery in prevention of a relapse * Patients presenting a SPMS or PPMS form at the beginning of pregnancy * Protected persons referred to in Articles L. 1121-6 to L. 1121-9 of the code of public health (eg minors, persons deprived of liberty, ..) except nursing mothers postpartum.FEMALE2024-10-18T00:00:002019-04-122019-04-122020-11-092019-04-172020-11-102019-06-202020-05-182020-05-18falseFalseFalseMultiple Sclerosis (MS) is most prevalent among women of childbearing age. The post-partum (PP) period is a critical phase in MS patients, during which a recrudescence of disease activity is expected. Different strategies have been assessed in the prevention of post-partum relapse. High dose methylprednisolone was evaluated in a case control study with historical controls but the positive results have not been confirmed. In this study, the main objective will be to compare the risk of relapse in the 6 months PP period between patients treated systematically by high dose methylprednisolone after delivery compared to patients who didn't receive a systematic treatment. The second objective will be focused on the comparison of the disease activity and disability progression in patients who have resumed early a Disease Modifying Drug (DMD) after delivery vs patients who haven't.Multiple Sclerosis350Difference of the proportion of patients with >= 1 relapse between the two groupsproportion of patients with \>= 1 relapse during the six-month period after delivery between the patients who have systematically been treated by high-dose corticosteroids after the delivery; and patients who haven't been systematically treated by high-dose corticosteroids.6 monthsDifference of the proportion of patients with >= 1 relapseproportion of patients with \>= 1 relapse during the six-month period after delivery between patients who have resumed a DMD early after the delivery (during the first two months) compared to a delayed reintroduction, or an absence of reintroduction6 monthsDifference of the annualized relapse rateNumber of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMD6 monthsDifference of the annualized relapse rateNumber of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMD1 yearDifference of the annualized relapse rateNumber of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMDtwo yearsDifference of the time to first relapseTime to first relapse after delivery between corticosteroids or not and between early DMD vs delayed DMDDate of deliveryDifference of the disability progressionScore of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD6 monthsDifference of the disability progressionScore of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD1 yearDifference of the disability progressionScore of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD2 yearsDifference of percentage of with Gadolinium enhancing lesionsDifference of percentage of with Gadolinium enhancing lesions during the 6-month period after the delivery between corticosteroids or not and between early DMD vs delayed DMD6 monthsDifference of the number of Gadolinium enhancing lesionscompare the number of Gadolinium enhancing lesions during the 6-month period after the delivery between corticosteroids or not and between early DMD vs delayed DMD6 monthsFalse1549TrueFalseFalseFalse NCT01462292114876GlaxoSmithKlineINDUSTRYA Clinical Study to Assess Two Doses of GSK2402968 in Subjects With Duchenne Muscular Dystrophy (DMD)2017-08COMPLETEDThe purpose of this study is to determine if GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping. Two doses of GSK2402968 and placebo will be used in this study.INTERVENTIONALInclusion Criteria: * Ambulant subjects with Duchenne muscular dystrophy (DMD) resulting from a mutation/deletion within the DMD gene, confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by GSK2402968-induced DMD exon 51 skipping * Males, aged at least 5 years, * Life expectancy of at least 1 year, * Able to rise from floor in \< or =15 seconds (without aids/orthoses) at Screening Visit 1 and Screening Visit 2, * Able to complete 6 Minute Walk Distance (6MWD) test with minimal distance of at least 75 meters, with reproducible results (within 20% of each other) at Screening Visit 1, Screening Visit 2 and at the baseline visit prior to randomization, * Receiving oral glucocorticoids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly for the 48 week duration of the study (Dose adjustments that are based on weight changes are permitted), * QTc \<450msec (based on single or average QTc value of triplicate ECGs obtained over a brief recording period), or \<480 msec for subjects with Bundle Branch Block. Note: QTc may be either QTcB or QTcF, and machine read or manual overread * Willing and able to comply with all protocol requirements and procedures, * Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations). Exclusion Criteria: * Any additional missing exon for DMD that cannot be treated with GSK2402968, * Current or history of liver disease or impairment including : 1. an INR vaue above 1.5 is in and of itself exclusionary 2. a total bilirubin greater than 2 times the Upper Limit of Normal is in and of itself exclusionary 3. a GGT greater than 2 times the Upper Limit of Normal is in and of itself exclusionary * Current or history of renal disease or impairment, * Baseline platelet count below the Lower Limit of Normal, * aPPT above the Upper Limit of Normal, * History of significant medical disorder which may confound the interpretation of either efficacy or safety data e.g. inflammatory disease * Acute illness within 4 weeks of the first anticipated administration of study medication which may interfere with study assessments, * Use of anticoagulants, antithrombotics or antiplatelet agents, previous treatment with investigational drugs, idebenone or other forms of Coenzyme Q10 within 1 month of the first administration of study medication, * Current or anticipated participation in any investigational clinical studies, * Positive hepatitis B surface antigen, hepatitis C antibody test (if verified via RIBA or PCA testing), or human immunodeficiency virus (HIV) test at screening, * Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \<45% at Screening, the investigator should discuss inclusion of subject in the study with the medical monitor, * Children in Care. The definition of a Child in Care is a child who has been placed under the control or protection of an agency, organisation, institution or entity by the courts, the government or a government body, acting in accordance with powers conferred on them by law or regulation. The definition of a child in care can include a child cared for by foster parents or living in a care home or institution, provided that the arrangement falls within the definition above. The definition of a child in care does not include a child who is adopted or has an appointed legal guardianMALE2024-10-18T00:00:002011-10-032011-10-272017-09-132011-10-312017-10-162011-10-262013-05-212013-11-04trueThe purpose of this study is to determine if GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping. Two doses of GSK2402968 and placebo will be used in this study.Muscular DystrophiesPHASE251Mean Change From Baseline in Muscle Function Using the 6 Minute Walking DistanceThe participants during this assessment were asked to walk, at their own preferred speed, up and down a fixed distance until they were told to stop after 6 minutes. The participants were warned of the time and were told to stop earlier if they feel unable to continue. The total distance walked within the duration of 6 minutes (or until the participant stopped in case of early termination of the test), was recorded in meters. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Rise From Floor Time at Week 24The rise from floor was assessed, when the participants stood from a standardized supine position as quickly as possible when told to go. Time was recorded with a stopwatch from the initiation of movement until the assumption of upright standing. No aids or orthoses were allowed. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in 4 Stair Climb Ascent/Descent Time at Week 24During this assessment, the participants were asked to ascend and descend four steps. The time for this was recorded with a stopwatch from the initiation of movement until the participant stands on the fourth step, (going up and going down separately). A flight of steps with handrail were used for this test. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in 10 Meter Walk/Run at Week 24The participants during this assessment were asked to traverse marked 10-meter measured walkway as quickly as he safely can. Time was recorded to one tenth of a second with a stop watch from when his first foot crossed the start line until when the second foot crossed the finish line. How often the participant , touched the wall was to be noted. Care was taken to ensure that the participants were safe when completing this test. The assessor was allowed to walk nearby to provide 'emergency' help if needed, but must not support or provide manual assistance for the participant in any way. If the participant was unable to complete the 10-meter walk, the total distance was recorded. The participants were to perform the test in bare feet. No aids or orthoses were allowed. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Muscle Strength Total Score at Week 24The muscle strength was recorded by handheld myometry using a microFET2 myometer. Upper and lower limb proximal muscles were evaluated including knee flexors, knee extensors, elbow flexors, elbow extensors, shoulder abductors and hip flexors. Total score was calculated by summing up all individual scores. If data for any of the individual muscle strength tests was missing, the total score were set to missing for that visit. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Muscle Strength Tests For-Knee Extensor, Knee Flexor, Hip Flexor, Elbow Flexor, Elbow Extensor, Shoulder Abductor at Week 24The muscle strength was recorded by handheld myometry using a microFET2 myometer. Upper and lower limb proximal muscles were evaluated including knee flexors, knee extensors, elbow flexors, elbow extensors, shoulder abductors and hip flexors. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in the North Star Ambulatory Assessment (NSAA) Total ScoreThe NSAA was a functional scale devised from Hammersmith Scale of Motor Ability specifically for use in ambulant children with DMD. It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). The scale assessed activities that required for ambulatory activity and included items that were rarely achieved in untreated DMD (jump, hop, raise head) as well as items that are known to progressively deteriorate over time (stand from a chair, walk). A standardized manual is available within the SPM with specific instructions for grading. Video snaps used in training program to ensure evaluator reliability. The total score ranged from 0-34 where the highest score of 34 implies absence of symptoms and lower score implies more severe symptoms. Change from Baseline, was defined as the post-randomization value minus the baseline value. Baseline was defined as Week 0.Baselie (Week 0) and Week 24Number of Participants With Accidental Falls During 6 Minute Walk Distance TestThe participants during the 6 minute walk distance were asked to walk, at their own preferred speed, up and down a fixed distance until they were told to stop after 6 minutes. The participants were warned of the time and were told to stop earlier if they feel unable to continue. The total distance walked within the duration of 6 minutes (or until the participant stopped in case of early termination of the test), was recorded in metersThe number of accident falls during the 6 minute walk distance were reported. Data is reported for the number of participants with accidental falls of 0, 1 and 2.Baseline (Week 0), Week 24, Week 36 and Week 48Change From Baseline in Creatinine Kinase Serum ConcentrationsCreatine kinase (CK) is a muscle-specific enzyme; its level in plasma is considered to reflect the extent of muscle damage. In the blood samples drawn to this purpose, the plasma level of CK was measured. Change from Baseline, was defined as the post-randomization value minus the baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 48Change From Baseline in Forced Expiratory Volume in the First Second of Exhalation (FEV1) at Week 24FEV1 is the amount of air which can be forcibly exhaled from the lungs in the first second of a forced exhalation. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Forced Vital Capacity (FVC) at Week 24FVC is defined as the amount of air which can be forcibly exhaled from the lungs after taking the deepest breath possible. Change from Baseline, was defined as the post-randomization value minus the baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Peak Cough Flow at Week 24The peak cough flow was conducted using a spirometer. Change from Baseline, was defined as the post-randomization value minus the Baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Peak Expiratory Flow at Week 24The peak expiratory flow is a measure of the amount of air that can be pushed through the airways in a single rapid exhalation. The peak expiratory flow was measured using spirometry. Change from Baseline, was defined as the post-randomization value minus the baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Change From Baseline in Sniff Pressure Test at Week 24This was one of the pulmonary function test which was a non-invasive procedure. It measured the inspiratory muscle strength by transdiaphragmatic (Pdi) and esophageal pressures (Pes) generated during volitional and nonvolitional maneuvers. Change from Baseline, was defined as the post-randomization value minus the baseline value. Baseline was defined as Week 0.Baseline (Week 0) and Week 24Number of Participants With Change From Baseline in Dystrophin Expression at Week 24 by Immunofluorescence Assay (IFA)A muscle biopsy from the tibialis anterior muscle was taken to assess the expression of dystrophin. The muscle biopsy samples were collected by open biopsy or with the conchotome method according to standard hospital procedures for obtaining muscle biopsies from children. The minimum amount of muscle tissue required is a small piece of muscle of at least 0.5 x 0.5 x 0.5 centimeters. The muscle tissue was immediately frozen in liquid nitrogen-cooled 2-methylbutane and stored at -80°Celsius (C) or -70°C till shipment. In case of DMD participants , there is defect in the dystrophin producing gene or absence. Data for number of participants with change from baseline in dystrophin expression, was diagnosed using IFA and was categorized as strong increase, increase, and no change, decrease.Baseline (Week 0) and Week 24Number of Clinician Global Impression of Improvement (CGI-I) RespondersSingle item question designed to provide a brief, stand-alone assessment of the clinician's view of the participant's global functioning after initiating a study medication, compared to their global functioning just prior to initiating treatment. Evaluated by an expert physician or evaluator familiar with DMD and who could make an expert clinical global judgement about severity of illness across various time points within context of clinical experience. The CGI-I reflects the clinician's judgment about the total picture of the participant : the illness severity, the level of distress and other aspects of impairment, and impact of illness on functioning. The CGI-I is rated without regard to clinician's belief that any clinical changes are or are not due to medication and without consideration of etiology of symptoms. It is measured on 7-point Likert scale (1 = 'very much improved', 2 = 'much improved', 4 = 'no change', 5 = 'minimally worse', 6 = 'much worse', 7 = 'very much worse').Week 24 and Week 48Assessment of Functional Outcome by : Functional Outcomes Survey During Treatment PeriodThis was conducted by the family or caregiver. This helped to document the observed changes in the participant's functional outcome like the day to day activities; general health, mobility, and other general daily activities. The data for Week 24 has been reported as improved, not improved and not applicable.Up to Week 24Assessment of Functional Outcome by : Physician Assessment of Daily LivingThis was conducted by the physician, which helped to assess and document observed changes in the participant by the physician reported by the participant or his family or caregiver. This was reported as any worsening and any improvement up to week 24.Week 24 and Week 48False5FalseFalseTrueFalse NCT04956289NS-065/NCNP-01-211NS Pharma, Inc.INDUSTRYStudy to Assess the Safety, Tolerability, and Efficacy of Viltolarsen in Ambulant and Non-Ambulant Boys With DMD (Galactic53)2024-06COMPLETEDThis is a phase II, open-label study where weekly doses of 80 mg/kg viltolarsen is administered intravenously over a 48-week treatment period to ambulant and non-ambulant DMD patients over the age of 8 years.INTERVENTIONALInclusion Criteria: 1. Patient (if age 18 years or older) or patient's parent(s) or legal guardian(s) has (have) provided written informed consent and Health Insurance Portability and Accountability Act authorization, where applicable, prior to any study-related procedures; patients younger than age 18 years will be asked to give written or verbal assent according to local requirements; 2. Patient has a confirmed diagnosis of DMD defined as: 1. Patient is male with clinical signs compatible with DMD; and 2. Patient has a confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 53 to restore the dystrophin messenger ribonucleic acid reading frame including determination of unambiguously defined exon boundaries (using techniques such as multiplex ligation-dependent probe amplification, comparative genomic hybridization array, or other techniques with similar capability); 3. Patient is more than 8 years of age at time of first infusion in the study; 4. Patient has a Brooke scale rating of 3 or better OR an upright FVC 30% or greater at Screening; 5. Patient, if sexually active, is willing to abstain from sexual intercourse or employ a barrier or medical method of contraception during and for 3 months following completion of IP administration; 6. Patient and patient's parent(s)/guardian(s) (if patient is \<18 years of age) and/or caregiver(s) are willing and able to comply with scheduled visits, IP administration plan, and study procedures; 7. Patient must be on a stable dose of glucocorticoid (GC) or not treated with GC for at least 3 months prior to the first dose of IP and is expected to remain on stable dose of GC treatment or off GC for the duration of the study. Other inclusion criteria may apply Exclusion Criteria: 1. Patient has had an acute illness within 4 weeks prior to the first dose of IP; 2. Patient has evidence of symptomatic cardiomyopathy (New York Heart Association Class III or higher); 3. Patient requires ventilation support while awake during the day; 4. Patient has an allergy or hypersensitivity to IP or any of its constituents; 5. Patient has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator; 6. Patient has a previous or ongoing medical condition, medical history, physical findings, or laboratory abnormalities that could affect patient safety, make it unlikely that treatment and follow-up will be correctly completed, or impair the assessment of study results, in the opinion of the investigator; 7. Patient has had surgery within 3 months prior to the first anticipated administration of IP or has known plans to have surgery during the Treatment Period; 8. Patient has positive test results for hepatitis B antigen, hepatitis C antibody, or human immunodeficiency virus antibody at Screening; 9. Patient has been diagnosed with asthma that requires chronic treatment with a long-acting beta agonist; 10. Patient has relevant history of or current drug or alcohol abuse or use of any tobacco/marijuana products by smoking or vaping within 3 months prior to treatment with IP; 11. Patient is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of IP or within 5 times the half-life of a medication, whichever is longer; 12. Patient has taken any gene therapy; 13. Patient is currently taking any other exon skipping agent or has taken any other exon skipping agent within 3 months prior to the first dose of IP; 14. Patient has hydronephrosis, hydroureter, renal or urinary tract calculi, or ureteral stenosis by renal ultrasound; 15. Patient was previously enrolled in an interventional study of viltolarsen. Other exclusion criteria may applyMALE2024-10-18T00:00:002021-06-302021-06-302024-07-252021-07-092024-08-202021-07-012023-06-202023-07-13TrueFalseThis is a phase II, open-label study where weekly doses of 80 mg/kg viltolarsen is administered intravenously over a 48-week treatment period to ambulant and non-ambulant DMD patients over the age of 8 years.Duchenne Muscular DystrophyPHASE220Number of Participants With Treatment Emergent Adverse EventsNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Treatment Emergent Adverse Events by Maximum SeverityNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Treatment Emergent Adverse Events by Highest Intervention Level Regarding Investigational ProductNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Treatment Emergent Adverse Events by Worst OutcomeNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Investigational Product-related Treatment Emergent Adverse EventsNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Investigational Product-related Treatment Emergent Adverse Events by Maximum SeverityNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Investigational Product-related Treatment Emergent Adverse Events by Highest Intervention Level Regarding Investigational ProductNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Investigational Product-related Treatment Emergent Adverse Events by Worst OutcomeNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentNumber of Participants With Adverse Event of Special InterestNo statistical analysis was performed for this endpoint. The information has been introduced in the section "Adverse Events".baseline to up to 48 weeks of treatmentFalse8FalseFalseTrueFalse NCT0183404000102Chaitanya Hospital, PuneOTHERStudy Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy2014-09UNKNOWNThis Study is single arm, single center trial to check the safety and efficacy of BMMNC (100 million per dose) for the patient with Duchenne Muscular Dystrophy,INTERVENTIONALInclusion Criteria: * Patient with Diagnose of Duchenne Muscular Dystrophy. * Aged in between 4 to 20 Years. * Willingness to undergo Bone Marrow derived Autologous cell Therapy. * Ability to comprehend the explained protocol and thereafter give an informed consent as well as sign the required Informed Consent form(ICF) for the study. * Ability and willingness to regular visit to hospital for protocol procedures and follow up Exclusion Criteria: * Patient with History of Immunodeficiency HIV+,Hepatitis B ,HBV and TPPA+, Tumor Markers+ * Patients with History of Hypertension and Hypersensitive. * Patient who is not Diagnose of Duchenne Muscular Dystrophy. * Alcohol and drug abuse / dependence.ALL2024-10-18T00:00:002013-02-262013-04-152014-09-162013-04-172014-09-172014-092016-092016-10trueThis Study is single arm, single center trial to check the safety and efficacy of BMMNC (100 million per dose) for the patient with Duchenne Muscular Dystrophy,Muscular Dystrophy;Duchenne Muscular DystrophyPHASE1PHASE230Improvement of daily living scale.6 MONTHImprovement of Muscular dystrophy specific functional Rating scale6 MonthsTrue420FalseFalseFalseFalse NCT01580501PRO 27521Cedars-Sinai Medical CenterOTHERPDE Inhibitors in DMD Study (Acute Dosing Study)2014-01COMPLETEDPDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD. The investigators specific aim is to perform an efficient dose-titration study to inform the design of a randomized multicenter trial of PDE5A inhibition for clinical skeletal muscle and cardiac endpoints.INTERVENTIONALInclusion Criteria: 1. diagnosis of DMD confirmed by muscle biopsy or DNA analysis 2. age 7-15y 3. ambulatory 4. no clinical evidence of heart failure Exclusion Criteria: 1. hypertension, diabetes, or heart failure by standard clinical criteria 2. elevated BNP level (\>100 pg/ml) 3. LVEF \< 50% 4. non-ambulatory 5. cardiac rhythm disorder, specifically: rhythm other than sinus, SVT, atrial fibrillation, ventricular tachycardia 6. continuous ventilatory support 7. liver disease 8. renal impairment 9. contraindications to sildenafil (use of nitrates, alpha-blockers, CYP3A inhibitors, amlodipine, or other PDE5A inhibitors)MALE2024-10-18T00:00:002012-04-172012-04-182014-01-272012-04-192014-01-282012-032013-03falsePDE5A inhibition, which boosts NO-cGMP signaling, will relieve functional muscle ischemia and restore normal blood flow regulation (i.e., functional sympatholysis) during exercise in boys with DMD. The investigators specific aim is to perform an efficient dose-titration study to inform the design of a randomized multicenter trial of PDE5A inhibition for clinical skeletal muscle and cardiac endpoints.Duchenne Muscular DystrophyPHASE112Pre vs. post treatment change in functional sympatholysis by NIR for each dose of each drug.Measured by the decrease in muscle tissue oxygenation (near infrared spectroscopy) and blood flow (Doppler ultrasound) evoked by reflex sympathetic activation in exercising forearm muscle.Sympatholysis measured by brachial artery Doppler ultrasoundTrue715FalseFalseFalseFalse NCT03513367RC31/18/0119University Hospital, ToulouseOTHERThe Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory :PedsQLTM.2019-04UNKNOWNThere isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy module with a multicentric study. The investigators will evaluate the following psychometric properties : convergent validity, internal validity, inter-rater reliability. The investigators would like to be able to use this scientific tool in future clinical trials.OBSERVATIONALInclusion Criteria: * Boys aged 7 to 18, with genomic Duchenne muscular dystrophy whose parents (mother and / or father) or direct grandparents do not oppose. Exclusion Criteria: * Inability for the child to understand the issues * Absence of direct parents or grandparents * Child receiving antidepressant treatment * Non French speaking child * Duchenne Muscular Dystrophy girlsMALE2024-10-18T00:00:002018-04-192018-04-192019-04-162018-05-012019-04-182018-09-192019-09-192019-09-19falseFalseFalseThere isn't specific Health related quality of life measure for children with DMD in French. The aim of this study is to validate the French version of the Pediatric Quality of Life Inventory 3.0 Duchenne Muscular Dystrophy module with a multicentric study. The investigators will evaluate the following psychometric properties : convergent validity, internal validity, inter-rater reliability. The investigators would like to be able to use this scientific tool in future clinical trials.Duchenne Muscular Dystrophy210Evaluate the validity of the French version of the DMD module of the PedsQLTM 3.0 scaleThe validation process is confirmatory, the scale being widely used in English 201/5000 The internal consistency of the 4 dimensions of the PedsQL ™ DMD module will be evaluated by measuring the Cronbach Alpha. In terms of data availability to children (activity report). the validation of the DMD module will focus on the validity of constructs, internal structure validity, discriminant validity and reliability12 monthsEvaluate the reliability of the French version of the DMD module of the PedsQLTM 3.0 scalePedsQLTM is a model for measuring quality of life in children with acute or chronic pathology. Pathology-specific PedsQL ™ provides a better assessment of the quality of life of this population12 monthsTrue518FalseFalseFalseFalse NCT04353167GO19548Hacettepe UniversityOTHERExamination of the Relationship Between Foot - Body Posture and Balance and Gait in Duchenne Muscular Dystrophy2022-07COMPLETEDFoot and body postures of patients with DMD will be evaluated. Foot structure characteristics such as foot length, metatarsal width, calcaneal valgus angle will be calculated for the foot posture. Also, the Foot Posture Index (FPI-6) scale will be used. The body posture will be evaluated with the New York Posture Scale. Many gait characteristics such as step length, cadence, support surface of the patients will be determined with GaitRite instrumented walkway. Patients' balance assessment will be evaluated with Bertec Balance Advantage. The statistical analysis method will determine the relationship between foot and body posture and gait and balance.OBSERVATIONALInclusion Criteria: 1. To be between 5-13 years old 2. Being at level I or II according to Brooke Lower Extremity Functional Classification Scale 3. In the balance assessment, there should be at least 90 degrees of joint range of motion in the ankle to provide base contact on the force platform. 4. Agree to participate in the research voluntarily Exclusion Criteria: 1. Having serious mental and psychological problems, 2. Failure to cooperate adequately with the physiotherapist making the evaluations, 3. Severe contracture in lower extremities, 4. Any injury and / or surgery of the lower extremities in the past 6 months.MALE2024-10-18T00:00:002020-04-162020-04-162022-07-242020-04-202022-07-272020-03-152022-04-152022-06-15falseFalseFalseFoot and body postures of patients with DMD will be evaluated. Foot structure characteristics such as foot length, metatarsal width, calcaneal valgus angle will be calculated for the foot posture. Also, the Foot Posture Index (FPI-6) scale will be used. The body posture will be evaluated with the New York Posture Scale. Many gait characteristics such as step length, cadence, support surface of the patients will be determined with GaitRite instrumented walkway. Patients' balance assessment will be evaluated with Bertec Balance Advantage. The statistical analysis method will determine the relationship between foot and body posture and gait and balance.Foot Posture;Balance;Gait Disorders, Neurologic;Body Posture38Gait instrumented walkway (GaitRite)The GAITRite® system mat was positioned on the floor and connected to a laptop computer, with a 2 m acceleration/deceleration walkway at either end. Subjects were asked to walk at their typical speed to the designated end of the walkway.10 minutesBertec Balance System (Bertec)The system consists of a 20 × 20-inch platform at ground level connected to a laptop computer. The balance plate detects body sway based on the pressure that the subject's feet apply to the plate surface. For testing, each subject stood for 10 seconds under 4 different testing conditions. The first two conditions were eyes open and eyes closed on the balance plate itself, defined as normal stability - eyes open (NSEO) and normal stability - eyes closed (NSEC). These were followed by the patient standing on a 4-inch thick foam rubber pad while on the balance plate. These were labeled as perturbed stability - eyes open (PSEO) and perturbed stability - eyes closed (PSEC). The primary measure assessed by the balance plate for each condition was maximum center of pressure excursion or COP (a distance measured in inches of the major axis of an ellipse calculated along the axis of maximum excursion).10 minutesFoot Posture Index - 6The Foot Posture Index - 6 (FPI-6) was evaluated with each child standing and using the original protocol. FPI-6 values ranged from -2 to +2 for each of the six criteria and from -12 to +12 for the total score, indicative of position of each foot along the supinated to pronated continuum of foot posture.10 minutesNewYork Posture ScaleThe assessment of posture was done by New York Posture Rating Scale in which subjects were asked to stand in position of comfort and look forward on the wall at their eye level in order to establish a level head position. Then the plumb line was kept slightly anterior to right malleolus for assessing posture in sagittal plane and at midpoint between the feet for assessing in the frontal plane. Scoring is done as 5, 3, 1 for no deviation, some deviation and marked deviation respectively for each 13 criteria in the rating scale of which components are head, shoulder, spine, hip, feet, arches in the frontal plane and head, chest, shoulder, upper back, trunk, abdomen and low back in the sagittal plane.10 minutesFalse513FalseFalseFalseFalse NCT062957182023/51Istanbul UniversityOTHERTele-assessment of Functional Performance and Quality of Life in Patients With Duchenne Muscular Dystrophy: Validity and Reliability Study2024-02ENROLLING_BY_INVITATIONThanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is being investigated. However, studies have generally focused on a single evaluation parameter such as physical function, a special evaluation method or a special evaluation tool. The aim of this study is to investigate whether remote assessment of functional performance and quality of life in DMD patients is valid and reliable. If a valid and reliable tele-evaluation method that includes functional performance and quality of life parameters is found to be valid and reliable, the travel burden on patients and caregivers can be eased, patients\&#39; stress and anxiety related to travel can be reduced, caregivers can save time and energy and provide patients with the best possible treatment.OBSERVATIONALInclusion Criteria: * Being diagnosed with Duchenne muscular dystrophy * Being between the ages of 5-18 * Having ambulation skills * Having internet access and technical requirements * Having the ability to follow movement instructions * Volunteering to participate in the study Exclusion Criteria: * Having cognitive or behavioral problems that may interfere with evaluation * Having communication problems that may prevent evaluation * Having a level of contracture that may prevent evaluation * Having a systemic disease that may prevent evaluationMALE2024-10-18T00:00:002024-02-292024-03-052024-03-052024-03-062024-03-062023-07-012024-03-022024-05-10falseFalseFalseThanks to tele-assessment methods, it may be possible to evaluate DMD patients without traveling to clinical centers. In recent years, the applicability of remote assessment methods in DMD patients, as in many populations, is being investigated. However, studies have generally focused on a single evaluation parameter such as physical function, a special evaluation method or a special evaluation tool. The aim of this study is to investigate whether remote assessment of functional performance and quality of life in DMD patients is valid and reliable. If a valid and reliable tele-evaluation method that includes functional performance and quality of life parameters is found to be valid and reliable, the travel burden on patients and caregivers can be eased, patients\&#39; stress and anxiety related to travel can be reduced, caregivers can save time and energy and provide patients with the best possible treatment.Duchenne Muscular Dystrophy20Timed Performance TestsTimed performance tests are one of the frequently preferred outcome measures in patients with DMD. The time patients spend performing certain functions is recorded. The following functions will be evaluated in this study: • Getting up from the ground • Standing up from a chair • Don't wear a t-shirt • T-shirt removal • Collect 6 coins with one hand • Timed Up and Go Test2 daysBrooke Upper Extremity Functional Classification (BUEFS)Brooke Upper Extremity Functional Classification (BUEFS) will be used to evaluate the upper extremity functions of the cases. BUEFS is a valid, reliable and practical scale used to classify the upper extremity functions of individuals with DMD. It was developed by Brooke et al. in 1981. Individuals are classified between 1 and 6 according to the upper extremity activities they can perform, and higher stages indicate decreased functionality of the upper extremity.2 daysVignos Lower Extremity Functional Classification (VAEFS)Vignos Lower Extremity Functional Classification (VAEFS) will be used to evaluate the lower extremity functions of the cases. VAEFS is a scale consisting of 10 stages that evaluates the level of ambulation in neuromuscular diseases. It was developed by Vignos et al. in 1963. Individuals are classified between 1 and 10 according to their ambulation level, and higher stages indicate a decrease in ambulation level. While the patient in the first stage can walk and climb stairs without support, in the highest stage he is bedridden.2 daysPedsQL-3.0 Neuromuscular Module by PedsQL Multidimensional Fatigue ScaleThe patients' quality of life will be evaluated using the PedsQL-3.0 Neuromuscular Module- the PedsQL Multidimensional Fatigue Scale.2 daysFalse518FalseFalseFalseFalse NCT06290713IRB202301491University of FloridaOTHERVasodilator and Exercise Study for DMD (VASO-REx)2024-06RECRUITINGExamining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved vasodilator (to optimize blood flow and muscle perfusion which is impaired and often overlooked in DMD). Target: improved muscle function, vascular health, and DMD treatment.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed by genetic report * Minimum entry age of 6.0 years old * Ambulatory * On stable glucocorticoid regimen (for \> 3 months) Exclusion Criteria: * Contraindication to a Magnetic resonance Imaging examination (e.g. severe claustrophobia, magnetic implants, unable/unwilling to perform test) * Presence of unstable medical problems, including severe cardiomyopathy, left ventricular ejection fraction \<45%, cardiac conduction abnormalities as evidenced on ECG, uncontrolled seizure disorder, uncontrolled hypo or hypertension * Presence of a secondary condition that impacts muscle function or muscle metabolism (e.g., myasthenia gravis, endocrine disorder, mitochondrial disease) * Presence of a secondary condition leading to developmental delay or impaired motor control (e.g., cerebral palsy) or previous history of unprovoked rhabdomyolysis * Contraindications to phosphodiesterase 5 inhibitors (use of nitrates, alpha-adrenergic blockers, other phosphodiesterase 5 inhibitors) or other medications known to modulate blood flow or muscle metabolism * Participation in currently approved FDA trials or other investigational clinical trials during the period of the studyMALE2024-10-18T00:00:002024-02-092024-03-012024-06-212024-03-042024-06-252024-06-052026-112026-11falseTrueFalseExamining two strategies as potential adjuvant therapies for Duchenne muscular dystrophy (DMD); aerobic exercise training (to induce adaptations in skeletal muscle and improve cardiovascular health) and tadalafil, an FDA-approved vasodilator (to optimize blood flow and muscle perfusion which is impaired and often overlooked in DMD). Target: improved muscle function, vascular health, and DMD treatment.Duchenne Muscular Dystrophy;Duchenne Disease;Muscular Dystrophy;Muscular Dystrophy in Children;Vasodilation;Exercise;DMDPHASE250Vascular responsiveness after muscle contraction to a single dose of tadalafil.Responsiveness will be determined by an increase in post-contractile muscle oxygenation using MRI-Blood Oxygen Level Dependent (BOLD) responses after dosing compared to before. Study participants demonstrating an increase (\>50%) in post-contractile BOLD after tadalafil will be enrolled into Aim 2 of this study.up to 4 weeks after the completion of Visits 1 and 2 of Aim 1.Cycling time to fatigueThe study will assess the impact of tadalafil on exercise performance and fatigue resistance compared to placebo. Participants will undergo a maximal effort cycling test before and after the intervention period. The time it takes for participants to reach exhaustion (TTE) will be recorded as the primary outcome measure. Measurement: Time to exhaustion (TTE) during a maximal effort cycling test on a recumbent, stationary ergometer. This test will quantify fatigue resistance by measuring the duration participants can sustain maximal effort cycling.Baseline and 6 month follow-up visits of Aim 2.Quadriceps muscle Fat FractionThis outcome serves as a measure of disease severity. This measure is a sensitive and reproducible biomarker of DMD muscle pathology.Aim 1 and Aim 2 (baseline and 6 month follow-up)Metabolic recoveryThe rate of phosphocreatine resynthesis after leg exercise will be quantified and serves as index of skeletal muscle mitochondrial oxidative capacity. (Part of Aim 2 of the study).Through study completion, an average of 3 years.cardiopulmonary exercise testing (CPET) - Peak aerobic capacity (VO2max)Patients will undergo cycling exercise at submaximal and peak workloads to quantify peak aerobic capacity, ventilation. Peak Oxygen Uptake (VO2max): This measure quantifies the maximum amount of oxygen the body can utilize during exercise, assessed through maximal cycling effort in a CPET. It serves as a primary indicator of overall cardiovascular and aerobic fitness. Peak aerobic capacity: VO2max reflects the maximum oxygen utilization capacity, indicating overall cardiovascular fitness.Through study completion, an average of 3 years.cardiopulmonary exercise testing (CPET) - Minute Ventilation (VE)Minute Ventilation (VE): This measure reflects the total volume of air breathed per minute during exercise, assessed throughout the CPET. Evaluating VE at various workloads provides insights into respiratory efficiency and potential limitations during exercise. Respiratory efficiency: VE and VE/VO2 assess how well the body utilizes oxygen during exercise, revealing potential respiratory limitations.Through study completion, an average of 3 years.cardiopulmonary exercise testing (CPET) - Ventilatory Equivalent for Oxygen (VE/VO2)Ventilatory Equivalent for Oxygen (VE/VO2): This ratio compares ventilation to oxygen uptake, calculated throughout the CPET. It indicates the efficiency of oxygen utilization during exercise and potential respiratory limitations. Respiratory efficiency: VE and VE/VO2 assess how well the body utilizes oxygen during exercise, revealing potential respiratory limitations.Through study completion, an average of 3 years.cardiopulmonary exercise testing (CPET) - Gas Exchange Threshold (GET)Gas Exchange Threshold (GET): This point during exercise marks the transition from predominantly aerobic to anaerobic metabolism, identified through changes in blood lactate levels and other CPET parameters. Analyzing GET helps assess exercise tolerance and potential for improvement. Exercise tolerance and fatigue: GET and W at AT pinpoint the intensity at which fatigue and performance decline become significant, offering insights into exercise limitations and potential for improvement.Through study completion, an average of 3 years.cardiopulmonary exercise testing (CPET) - Workload at Anaerobic Threshold (W at AT)Workload at Anaerobic Threshold (W at AT): This measure, derived from the CPET, quantifies the power output at which anaerobic metabolism significantly contributes to energy production. It reflects exercise intensity at which fatigue and performance decline become prominent. Exercise tolerance and fatigue: GET and W at AT pinpoint the intensity at which fatigue and performance decline become significant, offering insights into exercise limitations and potential for improvement.Through study completion, an average of 3 years.The 100-meter timed test (100m)The 100m is a fixed distance test of maximal performance and will be completed according to published guidelines.Through study completion, an average of 3 years.the North Star Ambulatory Assessment (NSAA)The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure physical function and motor abilities in ambulatory boys with DMD and is increasingly being used in clinical trials as an overall measure of physical function.Through study completion, an average of 3 years.The 4-stair climbThe time to ascend 4-stairs is a strength-measure. The patient is instructed to climb four standard steps (six inches in height each) with two handrails as fast as safely possible, using the rails if needed.Through study completion, an average of 3 years.The Physical activity questionnaire (PAQ-C)The PAQ-C is a self-administered, 7-day recall instrument developed to assess general levels of physical activity throughout the elementary school year for students in grades 4 to 8 and approximately 8 to 14 years, with high validity. Although reliability is considered to be moderate, other physical activity questionnaires are less reliable. Results will be correlated with indices of disease severity and tadalafil responsiveness.Through study completion, an average of 3 years.Pulmonary function testing - vital capacity (FVC)Measurement: FVC, measured using a standard spirometer according to American Thoracic Society guidelines. This is the maximum amount of air an individual can forcefully exhale after a full inhalation. Significance: FVC reflects the total lung capacity and is a key indicator of overall lung volume and function. It can help identify restrictive lung diseases, where lung volume is limited, and track respiratory health changes over time.Through study completion, an average of 3 years.Pulmonary function testing - forced expiratory volume in 1 second (FEV1)Measurement: FEV1, measured using a standard spirometer according to American Thoracic Society guidelines. This is the amount of air forcefully exhaled in the first second of a maximal exhalation after a full inhalation. Significance: FEV1 reflects the efficiency of airflow from the lungs and is sensitive to obstructive lung diseases, like asthma and Chronic Obstructive Pulmonary Disease (COPD), where airflow is impaired.Through study completion, an average of 3 years.Neurology Quality of Life (NeuroQoL) pediatric lower extremity functionQuestionnaire used to measure patient-reported outcomes of intervention impact.Through study completion, an average of 3 years.Patient Reported Outcomes Measurement Information System (PROMIS) pediatric fatigueQuestionnaire used to measure patient-reported outcomes of intervention impact.Through study completion, an average of 3 years.PROMIS parent proxy for physical activityQuestionnaire used to measure patient's parent-reported outcomes of intervention impact.Through study completion, an average of 3 years.PROMIS pediatric physical activityQuestionnaire used to measure patient's parent-reported outcomes of intervention impact.Through study completion, an average of 3 years.Physical Activity Monitoring - Daily Step RateMeasurement: Total number of steps taken per day, assessed using the Actigraph activity monitor.Through study completion, an average of 3 years.Physical Activity Monitoring - Time in Low-Level ActivityMeasurement: Total time spent in low-intensity physical activity per day, as defined by Actigraph criteria.Through study completion, an average of 3 years.Physical Activity Monitoring - Time in Moderate-Level ActivityMeasurement: Total time spent in moderate-intensity physical activity per day, as defined by Actigraph criteria.Through study completion, an average of 3 years.Physical Activity Monitoring - Time in High-Level ActivityMeasurement: Total time spent in high-intensity physical activity per day, as defined by Actigraph criteria.Through study completion, an average of 3 years.False6FalseFalseFalseFalse NCT00308113PITT0503Cooperative International Neuromuscular Research GroupNETWORKCoQ10 and Prednisone in Non-Ambulatory DMD2013-10TERMINATEDThis study will help determine if CoQ10 and prednisone, alone and as a combination decrease the decline in cardiopulmonary and skeletal muscle function that occurs in the wheelchair confined phase of DMD. Participants who are enrolled in this study should not have taken any corticosteroids within the last six months. This is a 13-month, prospective, randomized study comparing a daily prednisone arm (0.75mg/kg/day), a CoQ10 arm (serum of greater than 2.5 ug/mL) and a combination arm (prednisone and CoQ10) with an enhanced standard of care arm in wheelchair confined males age 10 to 18 years with an established DMD diagnosis.INTERVENTIONALInclusion Criteria: * Age 10-18 years * Non-ambulatory (primary mode of transportation is via wheelchair for 3 years or less) * Confirmed DMD diagnosis * Steroid-naive for the 6 months prior to screening * Stable dose of b-blocker or ACE inhibitor medication for the 6 months prior to screening, if taking either of these medications * Ability to provide reproducible repeat QMT grip score within 15% of first assessment score * Has not participated in other therapeutic research protocol within the last 6 months prior to screening * Ability to swallow tablets Exclusion Criteria: * Failure to achieve one or more of the diagnostic inclusion criteria cited above * Symptomatic DMD carrier * Use of carnitine, other amino acids, creatine, glutamine, CoQ10 or any herbal medicines (this would not include herbal teas unless they are consumed daily with intended medicinal effect) within the last 3 months * History of significant concomitant illness or significant impairment of renal or hepatic function, or other contraindication to steroid therapy * Positive PPD * No prior exposure to chickenpox and no immunization against chicken pox * Baseline serum CoQ10 level of 5.0mg/ml or greaterMALE2024-10-18T00:00:002006-03-272006-03-272013-10-162006-03-292013-11-082007-042010-112010-11trueThis study will help determine if CoQ10 and prednisone, alone and as a combination decrease the decline in cardiopulmonary and skeletal muscle function that occurs in the wheelchair confined phase of DMD. Participants who are enrolled in this study should not have taken any corticosteroids within the last six months. This is a 13-month, prospective, randomized study comparing a daily prednisone arm (0.75mg/kg/day), a CoQ10 arm (serum of greater than 2.5 ug/mL) and a combination arm (prednisone and CoQ10) with an enhanced standard of care arm in wheelchair confined males age 10 to 18 years with an established DMD diagnosis.Duchenne Muscular DystrophyPHASE33One Year Change of Left Ventricular Mean Systolic Wall Stress/Rate-corrected Velocity of Fiber Shortening Relation.Comparing change from baseline of mean systolic wall stress and rate-corrected mean velocity of circumferential shortening in the three treatment groups relative to the enhanced standard of care group and relative to each other at one year. The values are obtained via an echocardiogram read locally at each site.12 monthsOne Year Change in Pulmonary Function (Forced Expiratory Volume, FEV1 and Forced Vital Capacity, FVC)Comparing change from baseline levels in pulmonary function (FEV1 and FVC) in the three treatment groups relative to the enhanced standard of care group and relative to each other at one year.12 monthsCompare Side Effect Profiles of the Three Study GroupsTo compare side effect profiles of the three regimens to the enhanced standard of care group, to include height, weight, weight/height ratio, body mass index, cataract formation, blood glucose, blood pressure, and behavioral changes.12 monthsFalse1018TrueFalseFalseTrue NCT03238235DSC/15/2357/53ItalfarmacoINDUSTRYClinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Becker Muscular Dystrophy2022-01COMPLETEDThis is a phase 2, randomised, double-blind, placebo controlled study to evaluate the micro-macroscopic effects on muscles, the safety and tolerability, and the efficacy of givinostat in patients with Becker Muscular Dystrophy. Approximately 48 eligible patients will be randomized in a 2:1 ratio to be treated with givinostat or placebo for a period of 12 months.INTERVENTIONALInclusion Criteria: 1. Ambulant patients with BMD diagnosis confirmed by genetic testing. 2. Able and willing to give informed consent in writing. 3. Able to perform 6MWT at screening with a minimum distance of 200 m and maximum distance of 450 m. 4. If in treatment with systemic corticosteroids and/or angiotensin-converting-enzyme (ACE) inhibitor , and/or β or α adrenergic receptor blocker, no significant change in dosage or dosing regimen (excluding changes related to body weight change) for a minimum of 6 months immediately prior to start of study treatment. 5. Patients must be willing to use adequate contraception. Contraceptive methods must be used from Randomization through 3 months after the last dose of study treatment. Exclusion Criteria: 1. Exposure to another investigational drug within 3 months prior to the start of study treatment. 2. Use of any pharmacologic treatment, other than corticosteroids, that might have an effect on muscle strength or function within 3 months prior to the start of study treatment (e.g., growth hormone). Vitamin D, calcium, and any other supplements will be allowed. 3. Surgery that might affect muscle strength or function within 3 months before study entry or planned surgery at any time during the study. 4. Presence of other clinically significant disease that in the Investigator's opinion could adversely affect the safety of the patient, making it unlikely that the course of treatment or follow-up is completed, or could impair the assessment of study results. 5. A diagnosis of other neurological diseases or presence of relevant somatic disorders that are not related to BMD. 6. Platelet count, WBC count and hemoglobin at screening \< Lower Limit of Normal (LLN). If laboratory screening results are \< LLN, platelet count, WBC count and hemoglobin are to be repeated once, and if again \< LLN become exclusionary. 7. Symptomatic cardiomyopathy or heart failure (New York Heart Association Class III or IV) or left ventricular ejection fraction \< 50% at screening or with heart transplant. 8. Current liver disease or impairment, including but not limited to elevated total bilirubin (\> 1.5 x ULN), unless secondary to Gilbert's disease or pattern consistent with Gilbert's disease. 9. Inadequate renal function, as defined by serum Cystatin C \> 2 x the upper limit of normal (ULN). If the value is \> 2 x ULN, serum Cystatin C will be repeated once, and if again \> 2 x ULN becomes exclusionary. 10. Positive test for hepatitis B surface antigen, hepatitis C antibody, or human immunodeficiency virus at screening. 11. Baseline corrected QTcF \> 450 msec, (as the mean of 3 consecutive readings 5 minutes apart) or history of additional risk factors for torsades de pointes (e.g., heart failure, hypokalemia, or family history of long QT syndrome). 12. Current psychiatric illness/social situations rendering the potential patient unable to understand and comply with the muscle function tests and/or with the study protocol procedures. 13. Hypersensitivity to the components of study medication. 14. Sorbitol intolerance or sorbitol malabsorption, or the hereditary form of fructose intolerance. 15. Contraindications to muscle biopsy. 16. Contraindications to MRI/MRS (e.g., claustrophobia, metal implants, or seizure disorder). 17. Hypertrygliceridemia (\<1.5 per upper limit of normal)\* \* at screening, patient with hypertrygliceridemia can be enrolled if in stable treatment and with controlled level of tryglicerides (i.e. within normal range) for at least 6 monthsMALE2024-10-18T00:00:002017-07-122017-07-312022-01-112017-08-032022-01-262017-12-122021-03-192021-03-19falseFalseFalseThis is a phase 2, randomised, double-blind, placebo controlled study to evaluate the micro-macroscopic effects on muscles, the safety and tolerability, and the efficacy of givinostat in patients with Becker Muscular Dystrophy. Approximately 48 eligible patients will be randomized in a 2:1 ratio to be treated with givinostat or placebo for a period of 12 months.Becker Muscular DystrophyPHASE251Mean change in total fibrosis (%)Mean change in total fibrosis (%) comparing the histology of muscle biopsies before and after 12 months of treatment with givinostat versus placebo12 monthsMean change in fat fraction of vastus lateralis and soleusEvaluation will be performed comparing Magnetic Resonance Spectroscopy (MRS) before and after 12 months of treatment with givinostat versus placebo.12 monthsMean change in fat fraction of pelvic girdle and lower limb musclesEvaluation will be performed comparing Magnetic Resonance Imaging (MRI) before and after 12 months of treatment with givinostat versus placebo12 monthsMean CSA of pelvic girdle and lower limb musclesEvaluation will be performed comparing MRI before and after 12 months of treatment with givinostat versus placebo12 monthsMean change in other histology parameters (e.g. Muscle Fibers Area Fraction [MFAF]%, % of total fibrosis, regenerative fibers)Evaluation will be performed comparing the histology biopsies before and after 12 months of treatment with givinostat12 monthsMean change in Motor Function Measurement (MFM)Evaluation will be performed using the Motor Function Measurement scale before and after 12 months of treatment with givinostat versus placebo12 monthsMean change in 6 Minute Walking Test (6MWT)Evaluation will be performed before and after 12 months of treatment with givinostat versus placebo12 monthsProportion of patients with < 10% worsening in 6MWT at the end of study.Proportion of patients with \< 10% worsening in 6MWT at the end of study.12 monthsProportion of patients who lose the ability to rise from floor (Baseline through end of study).Proportion of patients who lose the ability to rise from floor (Baseline through12 monthsProportion of patients who lose ambulation during the studyProportion of patients who lose ambulation during the study12 monthsMean change in muscle strength evaluated by knee extension, elbow flexion as measured by Hand Held Myometry (HHM),Evaluation will be performed before and after 12 months of treatment with givinostat versus placebo12 monthsMean changes in quality of life (assessed by the 36-item Short Form survey [SF36])Evaluation will be performed before and after 12 months of treatment with givinostat as compared to placebo12 monthsNumber of patients experiencing treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs) from Baseline through end of study (EOS).Number of patients experiencing treatment-emergent adverse events (TEAEs)12 monthsType, incidence, and severity of TEAEs and SAEs (Baseline through EOS).Type, incidence, and severity of TEAEs and SAEs (Baseline through EOS).12 monthsChanges from baseline to end of study of vital sign and clinical laboratory testsnumber of participants with abnormal laboratory values12 monthsChanges from baseline to end of study of physical examinationnumber of participants with abnormal physical examination assessments12 monthsMean change in Time Function TestEvaluation will be performed before and after 12 months of treatment with givinostat as compared to placebo12 monthsFalse1865FalseFalseTrueFalse NCT05126758CAP-1002-DMD-04Capricor Inc.INDUSTRYA Study of CAP-1002 in Ambulatory and Non-Ambulatory Patients With Duchenne Muscular Dystrophy2024-07RECRUITINGHOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during the first 12-months of the study. All participants will be eligible to receive 4 doses of CAP-1002 for an additional 12 months as part of an open-label extended assessment period.INTERVENTIONALInclusion Criteria: 1. Male subjects at least 10 years of age at time of consent who are willing and able to provide informed consent to participate in the trial if ≥ 18 years of age or assent with parental or guardian informed consent if \< 18 years of age. If a third-party caregiver is involved, they must provide informed consent. 2. Diagnosis of DMD based on clinical and phenotypic manifestations consistent with DMD (e.g., family history of DMD, elevated creatine kinase, dystrophin muscle biopsy, calf pseudohypertrophy, history of Gowers' sign, and gait impairment before 7 years of age) as confirmed by the Investigator. 3. Confirmatory genetic testing performed to have reached a diagnosis of DMD at any time in the past or currently performed at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory or equivalent. 4. Performance of the Upper Limb test (PUL) entry item scores 2-6 and total PUL score less than or equal to 40. For Cohort A only: enrollment of patients with PUL entry score 6, Exon 44 skipping amenable, and/or Exon 3 through 7 deletions will be capped at no more than 10% of the total study population (approximately 6 patients with these characteristics). 5. Reduced ability to walk/run (if ambulatory): subjects must take more than 10 seconds for the 10-meter walk/run (i.e., velocity \< 1 meter/second). 6. If non-ambulatory, loss of independent ambulation between 10th and 18th year birthday (standing unassisted or ability to take, at most, several steps independently is not considered ambulation). Subjects who are considered non-ambulatory between the ages of 9 and10 may be enrolled with prior approval from the sponsor. 7. Receiving standard of care therapy at an experienced, multidisciplinary DMD center as evidenced by regular cardiac and pulmonary monitoring, systemic glucocorticoid treatment, and at-home range of motion exercises. 8. Treatment with systemic glucocorticoids for at least 12 months and at a stable dose at least 6 months prior to study participation, except for either weight-based dose adjustment or a decrease in steroid dose of ≤ 10% for toxicity. For patients on chronic deflazacort, treatment with an equivalent dose of prednisone or prednisolone for a period of ≤ 30 days to bridge lack of availability of deflazacort during the 6 months prior to randomization is acceptable. 9. Current and up-to-date immunizations according to children and adolescent Centers for Disease Control and Prevention immunization schedule at the discretion of the Investigator. 10. Adequate venous access for parenteral IP infusions and routine blood collection. 11. Assessed by the Investigator as willing and able to comply with the requirements of the trial. 12. Sexually active subjects and their partners who are fertile must agree to use effective method(s) of contraception. Exclusion Criteria: 1. Left ventricular ejection fraction (LVEF) less than or equal to 35% prior to randomization. 2. Elbow-flexion contractures \> 30° in both extremities. 3. Body mass index (BMI) \> 45. 4. Percent predicted forced vital capacity (FVC%) \< 35% within 6 months prior to randomization. 5. Inability to perform consistent PUL 2.0 measurement within ± 2 points without shoulder domain or within ± 3 points with shoulder domain during paired testing at screening. 6. Risk of near-term respiratory decompensation in the judgment of the Investigator, or the need for initiation of day and night non-invasive ventilator support as defined by serum bicarbonate ≥ 29 mmol/L at screening. 7. History of non DMD-related chronic respiratory disease requiring ongoing or intermittent treatment, including, but not limited to, asthma, bronchitis, and tuberculosis. 8. Acute respiratory illness within 30 days prior to screening and during screening. 9. Initiation of nocturnal non-invasive ventilation within 30 days prior to screening. 10. Planned or anticipated thoracic or spinal surgery within the 6 months following randomization. 11. Planned or anticipated lower extremity surgery within the 6 months following randomization, if ambulatory. 12. Known hypersensitivity to dimethyl sulfoxide (DMSO) or bovine products. 13. Initiation of treatment with metformin or insulin within 3 months prior to randomization. 14. Initiation of treatment with an FDA-approved exon skipping therapy for the treatment of DMD and/or non-weight based adjustments within 12 months prior to randomization. 15. Treatment with human growth hormone within 3 months prior to randomization, unless on a stable dose allowing for weight-based dose adjustments (as determined by the site Investigator) for at least 24 months prior to randomization. 16. Treatment with a cell therapy product within 12 months prior to randomization; any prior exposure to CAP-1002 will be excluded. 17. Treatment with an investigational product within 6 months prior to randomization. 18. History, or current use, of drugs or alcohol that could impair the ability to comply with participation in the trial. 19. Inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigator. 20. Inability to undergo a cardiac MRI. For Cohort B Only - Subjects with a known hypersensitivity to gadolinium may forgo the LGE assessment but must complete a cardiac MRI without contrast. For Cohort B Only - Subjects who are unable to tolerate gadolinium due to renal insufficiency as measured by an estimated Glomerular Filtration Rate (eGFR) less than 60 mL/min/1.73 m2 may forgo the LGE assessment but must complete a cardiac MRI without contrast. 21. For Cohort B: Subjects with PUL entry score 6, Exon 44 skipping amenable, or Exon 3 through 7 deletions are excluded from participation.MALE2024-10-18T00:00:002021-11-042021-11-162024-07-222021-11-192024-07-232022-06-222024-122026-12trueTrueFalseHOPE-3 is a two cohort, Phase 3, multi-center, randomized, double-blind, placebo-controlled clinical trial evaluating the efficacy and safety of a cell therapy called CAP-1002 in study participants with Duchenne muscular dystrophy (DMD) and impaired skeletal muscle function. Non-ambulatory and ambulatory boys and young men who meet eligibility criteria will be randomly assigned to receive either CAP-1002 or placebo every 3 months for a total of 4 doses during the first 12-months of the study. All participants will be eligible to receive 4 doses of CAP-1002 for an additional 12 months as part of an open-label extended assessment period.Muscular Dystrophies;Muscular Dystrophy, Duchenne;Muscular Disorders, Atrophic;Muscular Diseases;Neuromuscular Diseases;Genetic Diseases, X-Linked;Genetic Diseases, Inborn;Nervous System DiseasesPHASE3102Change in the upper limb functionMean change from baseline in Performance of the Upper Limb test, version 2 (PUL 2.0) Total Score. Items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensationAt Month 12Change in cardiac muscle function and structure by assessment of left ventricular ejection fractionMean change from baseline in left ventricular ejection fraction as assessed by Cardiac Magnetic Resonance (cMRI)At Month 12Change in cardiac muscle function and structure by assessment of left ventricular end-systolic volumeMean change from baseline in left ventricular end-systolic volume as assessed by Cardiac Magnetic Resonance (cMRI)At Month 12Change in cardiac muscle function and structure by assessment of left ventricular end-diastolic volumeMean change from baseline in left ventricular end-diastolic volume as assessed by Cardiac Magnetic Resonance (cMRI)At Month 12Change in elbow and distal level upper limb functionMean change from baseline in mid \[elbow\] plus distal level upper limb function in Performance of the Upper Limb test, version 2 (PUL 2.0); items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensationAt Month 12Change in hand-to-mouth function in the context of functional eatingMean change from baseline in the functional ability of eating 10 bites evaluated by Duchenne Video Assessment (DVA) using a video record of patient performing the task at home. Physical therapists score the patient's quality of movement in the video using scorecards with pre-specified compensatory movement criteria.At Month 12Change in hand-to-mouth functionMean change from baseline in item 7 \[hand-to-mouth\] in Performance of the Upper Limb test, version 2 (PUL 2.0); items are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensationAt Month 12Number of patients with total loss of hand-to-mouth functionProportion of patients with total loss of hand-to-mouth function as assessed by item 7 \[hand-to-mouth\] in Performance of the Upper Limb test, version 2 (PUL 2.0)At Month 12Changes in patient-reported upper limb functionMean change from baseline in Duchenne Muscular Dystrophy Upper Limb Patient-Reported Outcome Measures (DMD UL PROM) questionnaire. Patient or caretaker evaluates the perceived difficulty in performing activities of daily living on a 3-level scale: 0=impossible without help, 1=can do task with difficulty, 2= can do task easily.At Month 12Changes in cardiac inflammation biomarker, creatine kinase MB isoenzyme [CK-MB]Mean change from baseline in CK-MB blood levels - MB fraction (% of total CK).At months 1, 3, 6, 9, 12Evaluation of disease modifying effects of CAP-1002Mean change from baseline between patients initially randomized to either CAP-1002 or placebo in full Performance of the Upper Limb test, version 2 (PUL 2.0) at Month 24 in the open label phase of the trial. items in PUL 2.0 are scored on a three-point scale: 0=unable to perform the item, 1=impaired or performs with compensation, 2=performs task without compensationAt Month 24False10TrueFalseTrueTrue NCT02165358H-2-2014-035 (MRI BMD/LGMD2I)Rigshospitalet, DenmarkOTHERMuscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I2016-11COMPLETEDThe purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I. The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls. Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.OBSERVATIONALInclusion Criteria: * Danish patients genetically verified with either becker muscular dystrophy or limb-girdle muscular dystrophy type 2I * calves enlargement Exclusion Criteria: * Patients who have metal implants in the body, for instance surgical clips, cochlear implants, pacemaker etc. * pregnant or breast-feeding patients * patients who are claustrophobic * atrophic calvesALL2024-10-18T00:00:002014-06-112014-06-162016-11-102014-06-172016-11-112014-062015-012015-01falseThe purpose of this study is to investigate the paradoxical muscle enlargement in the calves and tongue seen in patients affected by Becker muscular dystrophy and Limb-girdle muscular dystrophy type 2I. The enlarged calves' muscle quality will be assessed primarily on the basis of the muscle structure on MRI and based on a calculation of muscle strength per cross-sectional area.The findings will be compared with results from non-affected controls. Additionally we want to describe the tongue muscle appearance on T1-weighted MRI.Becker Muscular Dystrophy;Limb-Girdle Muscular Dystrophy Type 2I38Calves muscle qualitythe investigators will describe muscle quality by: 1. MRI scans of the calves comprising of a T1-weighted MRI scan, a 3-point Dixon scan to measure the fraction of fat in the muscle, a short TI inversion recovery (STIR) scan, and a diffusion tensor imaging (DTI) scan to see the muscle fiber organization. The MRI scans will further be used to measure the fat free muscle cross-sectional area of the muscle groups responsible for plantar flexion and dorsi flexion respectively. 2. Biodex muscle strength measurements: Isokinetic muscle dynamometry measurements on plantar flexion and dorsal flexion over the ankle. 3. Calculating of muscle strength per muscle cross-sectional area1 dayMRI T1 scan of the tongueMRI T1 scan of the tongue to investigate muscle volume1 dayTrue1880FalseFalseFalseFalse NCT03979157169_19BUniversity of Erlangen-Nürnberg Medical SchoolOTHERNon-invasive Molecular Imaging of Muscle Structure (MSOT_muscles)2020-07COMPLETEDThis study aims to determine hemoglobin and collagen levels in muscles before and after exercise, and over time, using Multispectral Optoacoustic Tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.INTERVENTIONALInclusion Criteria: * \>18 years of age Exclusion Criteria: * any reference to a myopathy * pregnancy * tattoo in the scanning regionALL2024-10-18T00:00:002019-06-032019-06-062020-07-012019-06-072020-07-072019-10-142019-11-112020-06-23falseFalseFalseThis study aims to determine hemoglobin and collagen levels in muscles before and after exercise, and over time, using Multispectral Optoacoustic Tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.Muscular DiseasesNA10Muscular collagen contentQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers compared before and after 6-MWT.one time point ( 2 measurements on day 1)Muscular myo-/hemoglobin contentQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers compared before and after 6-MWT.one time point ( 2 measurements on day 1)Muscular oxygenated and deoxygenated myo-/hemoglobin contentQuantitative oxygenated and deoxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers compared before and after 6-MWT and after 14 days.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Intraindividual collagen contentQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) compared between three different points in one muscle of one healthy volunteermultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Intraindividual myo-/hemoglobin contentQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) compared between three different points in one muscle of one healthy volunteermultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Intraindividual oxygenated and deoxygenated myo-/hemoglobin contentQuantitative oxygenated and deoxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) compared between three different points in one muscle of one healthy volunteermultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Muscular collagen content in men and womenQuantitative collagen signal of muscles derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in healthy men compared to healthy women.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Muscular myo-/hemoglobin content in men and womenQuantitative myo-/hemoglobin signal of muscles derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in healthy men compared to healthy women.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Muscular oxygenated and deoxygenated myo-/hemoglobin content in men and womenQuantitative oxygenated and deoxygenated myo-/hemoglobin signal of muscles derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in healthy men compared to healthy women.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Correlation of collagen signal with the 6-MWTQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in Healthy volunteers before and after exercise correlated with the 6-MWTmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Correlation of myo-/hemoglobin signal with the 6-MWTQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in Healthy volunteers before and after exercise correlated with the 6-MWTmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Correlation of oxygenated and deoxygenated myo-/hemoglobin signal with the 6-MWTQuantitative oxygenated and deoxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in Healthy volunteers before and after exercise correlated with the 6-MWTmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interrater reliability of collagen contentQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to investigatorsmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interrater reliability of myo-/hemoglobin contentQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to investigatorsmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interrater reliability of oxygenated and deoxygenated myo-/hemoglobin contentQuantitative oxygenated and deoxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to investigatorsmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interreader reliability of collagen contentQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to readersmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interreader reliability of myo-/hemoglobin contentQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to readersmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Interreader reliability of oxygenated and deoxygenated myo-/hemoglobin contentQuantitative oxygenated and deoxygenated myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers before and after 6-MWT and after 14 days compared between to readersmultiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Muscular collagen content over time periodQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers compared between day 1 and after 14 days.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)Muscular myo-/hemoglobin content over time periodQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in muscles of healthy volunteers compared between day 1 and after 14 days.multiple time points ( 2 measurements on day 1 and 2 measurements on day 15)True18FalseFalseFalseFalse NCT01385917GHN007.10GenethonOTHERObservational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping2016-03UNKNOWNPreU7-53 is a natural history study. The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with Duchenne Muscular Dystrophy (DMD), potentially treatable with AAV-mediated exon 53 skipping.OBSERVATIONALInclusion Criteria: * Diagnosis of Duchenne muscular dystrophy confirmed by at least genetic testing, theoretically treatable by exon 53 skipping. * Age between ≥ 12 and \<20 years old. * Non ambulant patients (i;e; inability to walk more than 10 meters without any of assistance). * Patients covered by a national health insurance scheme. * Signed informed consent. Exclusion Criteria: * Patient incapable of sitting upright in a wheelchair for at least one hour. * Patients with severe intellectual impairment preventing them from fully understanding the exercises to be performed. * Recent (less than 6 months ago) upper limb surgery or trauma This criteria is however no definitive. Patients who have undergone upper limb surgery or trauma may nonetheless be enrolled once the 6 month period is over. * Known immune deficiency. * Contraindications to NMR examsMALE2024-10-18T00:00:002011-06-292011-06-292016-04-112011-06-302016-04-122011-102018-122018-12falsePreU7-53 is a natural history study. The objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with Duchenne Muscular Dystrophy (DMD), potentially treatable with AAV-mediated exon 53 skipping.Duchenne Muscular Dystrophy45PreU7-53 is a natural history studyThe objective is to monitor the clinical and radiological course of upper limb muscle impairment in patients with DMD, potentially treatable with AAV-mediated exon 53 skipping.Every yearFalse1220FalseFalseFalseTrue NCT02167217201308062Washington University School of MedicineOTHERHistorically Controlled Trial of Corticosteroids in Young Boys With Duchenne Muscular Dystrophy2018-12COMPLETEDWhile it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age. The primary reason for the delay is that daily corticosteroid use has many side effects including short stature, obesity, and osteoporosis. A recent randomized blinded study of weekend oral corticosteroid use over one year showed equal improvement in strength with fewer side effects, particularly as related to growth and cushingoid changes. The investigators will test the efficacy of oral weekend corticosteroid use in infants and young boys with DMD who are under age 30 months. The investigators have demonstrated that the Bayley-III Scales of Infant development shows that infants and young boys in this age group who are untreated decline in abilities when compared to their peers. Here, in this Phase 2 historically controlled trial, the investigators will use these two measures and treat boys at five Muscular Dystrophy Association-DMD centersINTERVENTIONALInclusion Criteria: 1. Appropriate degree of weakness for age, creatine kinase greater than 20 times the upper limit of normal, and genetic mutation known to be causative for Duchenne muscular dystrophy . 2. Appropriate degree of weakness for age, creatine kinase greater than 20 times the upper limit of normal and genetic or biopsy confirmation of Duchenne muscular dystrophy in a primary relative (e.g. brother or maternal uncle). 3. De-identified, genetic studies will be reviewed by collaborator Kevin Flanigan, MD prior to enrollment of subjects. 4. Age at entry: one month through 30 months. Exclusion Criteria: * Prior treatment with corticosteroidsMALE2024-10-18T00:00:002014-02-032014-06-182018-12-192014-06-192018-12-212014-04-172017-02-222017-03-22trueWhile it has been known for many years that corticosteroid use benefits boys with Duchenne Muscular dystrophy (DMD), most clinicians do not consider treating until after age 3 or 4 years of age. The primary reason for the delay is that daily corticosteroid use has many side effects including short stature, obesity, and osteoporosis. A recent randomized blinded study of weekend oral corticosteroid use over one year showed equal improvement in strength with fewer side effects, particularly as related to growth and cushingoid changes. The investigators will test the efficacy of oral weekend corticosteroid use in infants and young boys with DMD who are under age 30 months. The investigators have demonstrated that the Bayley-III Scales of Infant development shows that infants and young boys in this age group who are untreated decline in abilities when compared to their peers. Here, in this Phase 2 historically controlled trial, the investigators will use these two measures and treat boys at five Muscular Dystrophy Association-DMD centersDuchenne Muscular DystrophyPHASE225Bayley III Gross Motor Scaled Score (Change From Baseline to 12 Month)Bayley III Gross Motor Scaled Score measures motor development. This is normed for typically developing children and follow a bell shaped curve. The scale has mean of 10 +/-3 for children at all ages and is bell shaped. Therefore the two standard deviation range is 16 to 4 with higher values indicated better performance. Lower values have been shown to be common in boys with DMD and it this study the baseline average score was 4.2.One yearFalse130TrueFalseFalseFalse NCT03917719CAT-1004-302Catabasis PharmaceuticalsINDUSTRYAn Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy2020-11TERMINATEDThe GalaxyDMD study is a global Phase 3, open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Patients who completed CAT-1004-201 or CAT-1004-301 or siblings of these boys from 4-12 years of age (up to 13th birthday) will be enrolled. Edasalonexent is an orally administered small molecule that inhibits NF-kB, which is a key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.INTERVENTIONALFor Patients who Completed CAT-1004-201 or CAT-1004-301: Inclusion Criteria: * Written consent/assent by patient and/or legal guardian as per regional and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements * Completion of either CAT-1004-201 or CAT-1004-301 Exclusion Criteria: * In the Investigator's opinion, unwilling or unable for any reason to complete all study assessments and laboratory tests and comply with scheduled visits, administration of drug, and all other study procedures For Siblings of Patients who Completed CAT-1004-201 or CAT-1004-301: Inclusion Criteria: * Written consent/assent by patient and/or legal guardian as per regional and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements * A sibling of a patient who completed either CAT-1004-201 or CAT-1004-301 * Diagnosis of DMD based on a clinical phenotype with increased serum creatine kinase (CK) and documentation of mutation(s) in the dystrophin gene known to be associated with a DMD phenotype * Followed by a doctor or medical professional who coordinates Duchenne care on a regular basis and willingness to disclose patient's study participation with medical professionals Exclusion Criteria: * Use of oral corticosteroids at screening; use of inhaled, intranasal, and topical corticosteroids is permitted * Use of another investigational drug, idebenone, or dystrophin-focused therapy within 4 weeks. Exception: Patients who are currently on or plan to initiate treatment with approved oligonucleotide exon-skipping therapies, and expected to continue treatment throughout the study, will be eligible * Use of the following within 4 weeks prior to Day 1: immunosuppressive therapy, anticoagulants, cyclosporine, dihydroergotamine, ergotamine, fentanyl, alfentanil, pimozide, quinidine, sirolimus or tacrolimus * Use of human growth hormone within 3 months prior to Day 1 * Other prior or ongoing significant medical conditionsMALE2024-10-18T00:00:002019-04-122019-04-162020-11-192019-04-172020-11-232019-03-142020-10-262020-10-26trueTrueFalseThe GalaxyDMD study is a global Phase 3, open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Patients who completed CAT-1004-201 or CAT-1004-301 or siblings of these boys from 4-12 years of age (up to 13th birthday) will be enrolled. Edasalonexent is an orally administered small molecule that inhibits NF-kB, which is a key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.Duchenne Muscular DystrophyPHASE3130Safety and tolerability of long-term treatment with edasalonexent measured by number of treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs)104 WeeksDurability of effects of edasalonexent on physical function as measured by the North Star Ambulatory Assessment (NSAA)104 WeeksDurability of effects of edasalonexent on physical function as measured by the 10-meter walk/run test104 WeeksDurability of effects of edasalonexent on physical function as measured by the time to stand from supine104 WeeksDurability of effects of edasalonexent on physical function as measured by the 4-stair climb104 WeeksFalse412FalseFalseFalseFalse NCT06270719SRP-9001-401Sarepta Therapeutics, Inc.INDUSTRYAn Observational Study Comparing Delandistrogene Moxeparvovec With Standard of Care in Participants With Duchenne Muscular Dystrophy2024-08RECRUITINGThis is a multicenter, prospective, observational Phase 4 study in the United States. The study is designed to collect both medical history and prospective data on Duchenne muscular dystrophy (DMD) treatment outcomes in participants receiving delandistrogene moxeparvovec as part of clinical care, compared to participants with DMD receiving or prescribed to start chronic glucocorticoid treatment at baseline in routine clinical practice. In addition, treatment outcomes will be collected prospectively from post-trial participants who have received delandistrogene moxeparvovec through participation in select SRP-9001 studies.OBSERVATIONALInclusion Criteria: - Has a definitive diagnosis of DMD prior to Screening based on documentation of clinical findings and confirmatory genetic testing. Among participants recruited from routine clinical practice: * Is aged 4 through 5 years at the time of enrollment. * Is ambulatory per protocol specified criteria. * Is currently receiving or has been prescribed to start chronic glucocorticoid therapy at the time of this observational study enrollment. For Delandistrogene Moxeparvovec-exposed Participants: - Will be initiating usual care treatment with delandistrogene moxeparvovec at the time of study enrollment. For Comparators: - Is unexposed to DMD gene therapy at the time of study enrollment. Exclusion Criteria: Among participants recruited from routine clinical practice: * Has any deletion of exon 8 and/or exon 9 in the DMD gene. * Is currently participating in any DMD interventional study at the time of this observational study enrollment. * Has a medical condition or confounding circumstances (for example, prior traumatic limitation for mobility or significant behavioral comorbidity) that, in the opinion of the Investigator, might compromise: * The participant's ability to comply with the protocol-required procedures, * The participant's wellbeing or safety, and/or * The clinical interpretability of the data collected from the participant. Other inclusion/exclusion criteria may apply.MALE2024-10-18T00:00:002024-01-242024-02-132024-08-302024-02-212024-09-032024-02-072029-12-312038-12-31falseTrueFalseThis is a multicenter, prospective, observational Phase 4 study in the United States. The study is designed to collect both medical history and prospective data on Duchenne muscular dystrophy (DMD) treatment outcomes in participants receiving delandistrogene moxeparvovec as part of clinical care, compared to participants with DMD receiving or prescribed to start chronic glucocorticoid treatment at baseline in routine clinical practice. In addition, treatment outcomes will be collected prospectively from post-trial participants who have received delandistrogene moxeparvovec through participation in select SRP-9001 studies.Duchenne Muscular Dystrophy500All Cohorts: Mean Change From Baseline in Time to Walk/Run 10 Meters (and Calculated Velocity) at Month 12Baseline, Month 12All Cohorts: Time to Rise From Floor (Supine to Stand)Up to 10 yearsAll Cohorts: Loss of Ambulation (LOA)Up to 10 yearsAll Cohorts: Performance of Upper Limb (PUL) Version 2.0 Entry Item ScoreUp to 10 yearsAll Cohorts: Patient-reported Outcomes Measurement Information (PROMIS) Domain Scores of Mobility, Upper Extremity and FatigueUp to 10 yearsAll Cohorts: Pulmonary Function, as Measured Forced Vital Capacity (FVC) (% Predicted)Up to 10 yearsAll Cohorts: Cardiac Function, Including Left Ventricular Ejection Fraction (LVEF) as Measured by Echocardiogram (ECHO)Up to 10 yearsAll Cohorts: Number of Participants Experiencing Treatment-emergent Adverse Events (TEAEs)Up to 10 yearsDelandistrogene Moxeparvovec Cohorts: Time to Walk/Run 10 Meters (Calculated Velocity)Up to 10 yearsDelandistrogene Moxeparvovec Post-trial Cohort: North Star Ambulatory Assessment (NSAA)Up to 10 yearsFalse4FalseFalseFalseFalse NCT06574919Soh-Med-24-07-15MSSohag UniversityOTHERClinical and Functional Assessment of Patients With Inherited Non-Duchenne Myopathies in Sohag University Hospital2024-08RECRUITINGMuscular Myopathies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing \[1\]. Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD is caused by mutations in the dystrophin gene that placed in the middle of short arm of X chromosome \[2\]. Mutation in this gene lead to absence of dystrophin or structural defects of this protein. The lack of functional dystrophin impairs the structure and function of myofibers which are essential for physiological growth of muscle tissue \[3\]. The non-dystrophic myopathies are a group of inherited myopathies defined by distinctive static histochemical and/or characteristic ultrastructural changes on muscle. The nomenclature of dystrophic myopathies can be confusing as some of them are classified by age of onset of symptoms (e.g., congenital muscular dystrophies), whereas others are classified by distribution of weakness (e.g., limb-girdle muscular dystrophies, distal myopathies, facioscapulohumeral dystrophy, and oculopharyngeal muscular dystrophy), by characteristic clinical features (e.g., myotonic dystrophy), by the name of the causative gene (e.g., GNE-myopathy, dystrophinopathies), whereas others are named after the physician first describing the disease (i.e., Duchenne and Becker muscular dystrophy or Bethlem myopathy) or can be subdivided in an entirely different way (i.e., the subgroups of the limb-girdle muscular dystrophies which were named according to their mode of inheritance and order of publication) \]4\[ Several aspects need to be taken into account in order to establish a clinical diagnosis; these features include but are not limited to the severity of the muscular wasting, as well as its distribution, and the accompanying symptomology, biochemical, hematological, physical, and neurological investigations, electromyography, and muscle biopsy. Moreover, if the gene defect is established, diagnosis can also be confirmed by gene testing \]5\[ Muscle biopsy lacks of typical dystrophic features such as increased conjunctive endomysial tissue, necrosis, and regeneration and shows one or more characteristic histological features. Based in pathological descriptions, the main non-dystrophic myopathies were described during the last century, taking into account the age of onset and the structural or ultrastructural markers \[6\]. Certain genes, in particular those with large sizes (TTN, RYR1, NEB), may present with different clinical and histological phenotypes and therefore their related myopathies be classified within different groups \[7\]. It is useful to know that other genetic myopathies may mimic non-dystrophic myopathies. This is the case of certain metabolic and mitochondrial myopathies that may show very selective muscle weakness. The description of these disorders goes beyond the scope of this chapter. However, it may be useful to take into account at least three examples, Pompe disease, the glycogen storage disorder type II (GSD II), and TK2-related mitochondrial DNA depletion myopathy, because they may present as congenital or later-onset non-dystrophic myopathies, may show particular muscle imaging abnormalities, and may be treatable \[8; 9\]. Understanding the clinical and molecular characteristics of non-DMD is crucial for several reasons. First, accurate diagnosis is essential for proper genetic counseling and family planning. Second, identification of the specific genetic mutation allows for the potential development of targeted therapies in the future. Finally, characterization of the clinical course of different non-DMD can guide treatment decisions and improve patient outcomes.OBSERVATIONALInclusion Criteria: * • Age between 2 and 18 years * Confirmed diagnosis of non-DMD based on clinical features, laboratory investigations, and genetic testing. * Patients and their parents agree to participate in the study. Exclusion Criteria: * • Children with a confirmed diagnosis of DMD * Children with incomplete medical records or unavailable clinical data. * Children with endocrinal ,nutritional critical care and inflammatory myopathies. * Other neuromuscular disorders that affect AHC or nerves as SMA, congenital myasthenia Gravis and neuropathic. * Other acquired neuromuscular disorders as Guillain Barre syndrome and toxic myopathy. * Patients and their parents refuse to participate in the study.ALL2024-10-18T00:00:002024-08-122024-08-252024-08-252024-08-282024-08-282024-08-012025-08-012025-08-01trueFalseFalseMuscular Myopathies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing \[1\]. Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD is caused by mutations in the dystrophin gene that placed in the middle of short arm of X chromosome \[2\]. Mutation in this gene lead to absence of dystrophin or structural defects of this protein. The lack of functional dystrophin impairs the structure and function of myofibers which are essential for physiological growth of muscle tissue \[3\]. The non-dystrophic myopathies are a group of inherited myopathies defined by distinctive static histochemical and/or characteristic ultrastructural changes on muscle. The nomenclature of dystrophic myopathies can be confusing as some of them are classified by age of onset of symptoms (e.g., congenital muscular dystrophies), whereas others are classified by distribution of weakness (e.g., limb-girdle muscular dystrophies, distal myopathies, facioscapulohumeral dystrophy, and oculopharyngeal muscular dystrophy), by characteristic clinical features (e.g., myotonic dystrophy), by the name of the causative gene (e.g., GNE-myopathy, dystrophinopathies), whereas others are named after the physician first describing the disease (i.e., Duchenne and Becker muscular dystrophy or Bethlem myopathy) or can be subdivided in an entirely different way (i.e., the subgroups of the limb-girdle muscular dystrophies which were named according to their mode of inheritance and order of publication) \]4\[ Several aspects need to be taken into account in order to establish a clinical diagnosis; these features include but are not limited to the severity of the muscular wasting, as well as its distribution, and the accompanying symptomology, biochemical, hematological, physical, and neurological investigations, electromyography, and muscle biopsy. Moreover, if the gene defect is established, diagnosis can also be confirmed by gene testing \]5\[ Muscle biopsy lacks of typical dystrophic features such as increased conjunctive endomysial tissue, necrosis, and regeneration and shows one or more characteristic histological features. Based in pathological descriptions, the main non-dystrophic myopathies were described during the last century, taking into account the age of onset and the structural or ultrastructural markers \[6\]. Certain genes, in particular those with large sizes (TTN, RYR1, NEB), may present with different clinical and histological phenotypes and therefore their related myopathies be classified within different groups \[7\]. It is useful to know that other genetic myopathies may mimic non-dystrophic myopathies. This is the case of certain metabolic and mitochondrial myopathies that may show very selective muscle weakness. The description of these disorders goes beyond the scope of this chapter. However, it may be useful to take into account at least three examples, Pompe disease, the glycogen storage disorder type II (GSD II), and TK2-related mitochondrial DNA depletion myopathy, because they may present as congenital or later-onset non-dystrophic myopathies, may show particular muscle imaging abnormalities, and may be treatable \[8; 9\]. Understanding the clinical and molecular characteristics of non-DMD is crucial for several reasons. First, accurate diagnosis is essential for proper genetic counseling and family planning. Second, identification of the specific genetic mutation allows for the potential development of targeted therapies in the future. Finally, characterization of the clinical course of different non-DMD can guide treatment decisions and improve patient outcomes.Inherited Non-Duchenne Myopathies30Clinical and Functional Assessment of patients with Inherited Non-Duchenne Myopathies in Sohag University HospitalCharacterize the clinical, laboratory, radiological, electrophysiological and molecular features of patients with non-Duchenne muscular dystrophies1 yearFalse218FalseFalseFalseFalse NCT03649919EKYY-MCSDTMRNDCChildren's Hospital of Fudan UniversityOTHERMulti-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children2021-08WITHDRAWNThe incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases. The definition of rare diseases in China is defined as: diseases with a prevalence of less than 1 in 500 000 or newborns with an incidence of less than 1/10 000 are rare diseases. Due to the low incidence of rare diseases and the accumulation of multiple organs and systems in most diseases, clinicians lack comprehensive and systematic understanding. Patients often face great difficulties in seeking medical treatment and diagnosis. Currently, there is a lack of systematic and rare diseases in China. Management, diagnosis and treatment of rare diseases, making the diagnosis of rare diseases, prevention interventions seriously lagging behind, obviously behind the management of developed countries and regions; rare diseases are mostly related to genetic variation, with the clinical application of genetic diagnosis technology, more and more Many genetically related rare diseases have been diagnosed at an early stage; at present, precision medicine is rapidly developing, and more and more rare disease clinical trials have entered the country, bringing prospects for the treatment of rare diseases. For this reason, the management of rare diseases is particularly important. At present, some rare diseases of the nervous system can be treated early; for example, immune-related rare diseases have common normative immunotherapy and functional disability prevention, and the characteristics of single disease management of each disease; hereditary degenerative rare diseases such as progressive 2-3 multi-center clinical trials of spinal muscular atrophy and progressive muscular dystrophy have been entered into our hospital (in our hospital), X-linked pre-diagnosis of adrenal malnutrition genetic diseases, and appropriate treatment time is selected. Stem cell transplantation is in research and planning; the long-term management and comprehensive treatment of nodular sclerosis and Dravet syndrome are important for the prevention and treatment of diseases; therefore, the early diagnosis, pathogenesis and standardized treatment of rare diseases of the nervous system are urgent. And necessity.OBSERVATIONAL1. SMA: Inclusion criteria: patients meet the all the following criteria: 1. Clinically manifestation: hypotonia, progressive symmetric and proximal weakness affecting the legs more than the arms, sparing of the facial muscles but often with bulbar muscle weakness. 2. Neurogenic EMG. EMG is also usually not needed in type 1 and 2 children; this investigation can help in more chronic forms in which the phenotype might be less striking. 3. Along with EMG and NCV test, a muscle or nerve biopsy can be used to diagnose spinal muscular atrophy if molecular genetic testing of SMN1 does not identify mutations. 4. Genetic testing of SMN1/SMN2: Homozygous absence of exons 7 and 8 of the SMN1 gene(96%), or only of exon 7, or other mutations. SMN2 copy numbers may vary. Genetic testing is the gold standard of diagnosis. Exclusion Criteria: None. - 2. DMD: Inclusion criteria: patients meet the all the following criteria: 1. Clinically manifestation: weakness, clumsiness, a Gowers' sign, difficulty with stair climbing, or toe walking. developmental delay or increased concentrations of serum enzymes such as alanine aminotransferase, aspartate aminotransferase, lactate dehydrogenase, or very high creatine kinase level. 2. Dystrophin gene mutation: dystrophin gene deletion and duplication testing is usually the first confirmatory test best done by MLPA or comparative genomic hybridisation array. Approximately 70% of individuals with DMD have a single-exon or multi-exon deletion or duplication in the dystrophin gene. If deletion or duplication testing is negative, genetic sequencing should be done to screen for the remaining types of mutations that are attributed to DMD (approximately 25-30%). 3. Muscle biopsy: if genetic testing does not confirm a clinical diagnosis of DMD, then a muscle biopsy sample should be tested for the presence of dystrophin protein by immunohistochemistry of tissue cryosections or by western blot of a muscle protein extract. Muscle samples from DMD patient has no dystrophin present, while BMD Becker muscular dystrophy (with some partially functional dystrophin present). Exclusion Criteria: None. - 3. X-ALD: Inclusion criteria: patients meet the all the following criteria: 1. Clinically manifestation: 1. Attention deficit disorder or hyperactivity; progressive impairment of cognition, behavior, vision, hearing, and motor function follow the initial symptoms and often lead to total disability within six months to two years. 2. Adrenomyeloneuropathy (AMN) manifests as progressive stiffness and weakness of the legs, sphincter disturbances, sexual dysfunction, and often, impaired adrenocortical function; all symptoms are progressive over decades, most commonly in an individual in his twenties or middle age. 3. Magnetic resonance imaging shows cerebral demyelination. 2. Dystrophin gene mutation: The diagnosis of X-ALD is usually established in a female proband with detection of a heterozygous ABCD1 pathogenic variant and elevated VLCFA. Exclusion Criteria: None. - 4. TSC: Inclusion criteria:patients meet the all the following criteria: A. Clinical diagnostic criteria: 1. Major features: (1) Hypomelanotic macules (≥3, at least 5-mm diameter). (2) Angiofibromas (≥3) or fibrous cephalic plaque. (3) Ungual fibromas (≥2). (4) Shagreen patch. (5) Multiple retinal hamartomas. (6) Cortical dysplasias. (7) Subependymal nodules. (8) Subependymal giant cell astrocytoma. (9) Cardiac rhabdomyoma. (10) Lymphangioleiomyomatosis (LAM). (11) Angiomyolipomas (≥2). 2. Minor features: (1)"Confetti" skin lesions. (2) Dental enamel pits (\>3). (3) Intraoral fibromas (≥2). (4) Retinal achromic patch. (5) Multiple renal cysts. (6) Nonrenal hamartomas. Two major features or one major feature with ≥2 minor features can diagnose. Either one major feature or ≥2 minor features can diagnosis possibly. B. Genetic diagnostic criteria: The identification of either a TSC1 or TSC2 pathogenic mutation in DNA from normal tissue is sufficient to make a definite diagnosis of TSC. Exclusion Criteria: None. -ALL2024-10-18T00:00:002018-08-262018-08-262021-08-042018-08-282021-08-112021-09-302021-10-302021-12-30FalseFalseThe incidence of rare diseases is extremely low, the disease is numerous, the symptoms are serious, and the detection technology is complicated. Countries have different definitions of rare diseases. The definition of rare diseases in China is defined as: diseases with a prevalence of less than 1 in 500 000 or newborns with an incidence of less than 1/10 000 are rare diseases. Due to the low incidence of rare diseases and the accumulation of multiple organs and systems in most diseases, clinicians lack comprehensive and systematic understanding. Patients often face great difficulties in seeking medical treatment and diagnosis. Currently, there is a lack of systematic and rare diseases in China. Management, diagnosis and treatment of rare diseases, making the diagnosis of rare diseases, prevention interventions seriously lagging behind, obviously behind the management of developed countries and regions; rare diseases are mostly related to genetic variation, with the clinical application of genetic diagnosis technology, more and more Many genetically related rare diseases have been diagnosed at an early stage; at present, precision medicine is rapidly developing, and more and more rare disease clinical trials have entered the country, bringing prospects for the treatment of rare diseases. For this reason, the management of rare diseases is particularly important. At present, some rare diseases of the nervous system can be treated early; for example, immune-related rare diseases have common normative immunotherapy and functional disability prevention, and the characteristics of single disease management of each disease; hereditary degenerative rare diseases such as progressive 2-3 multi-center clinical trials of spinal muscular atrophy and progressive muscular dystrophy have been entered into our hospital (in our hospital), X-linked pre-diagnosis of adrenal malnutrition genetic diseases, and appropriate treatment time is selected. Stem cell transplantation is in research and planning; the long-term management and comprehensive treatment of nodular sclerosis and Dravet syndrome are important for the prevention and treatment of diseases; therefore, the early diagnosis, pathogenesis and standardized treatment of rare diseases of the nervous system are urgent. And necessity.Xlsma;DMD;X-ALD;TSC0spinal muscular atrophy, SMADiagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a Spinal Muscular Atrophy is established in a patient by identification of a homozygous absence of SMN1 exon 7 using SMA MLPA test (MRC-holland P021-A2).from birth, to 18 years oldDMDDiagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a Dystrophinopathy is established in a male patient by identification of a hemizygous pathogenic variant (including exon or whole-gene deletions/duplications, intragenic deletions/insertions, missense, nonsense, and splice site variants) in DMD gene using a multigene panel sequencing test (Agilent ClearSeq Inherited Disease panel kit).from birth, to 18 years oldX-linked adrenoleukodystrophy X-ALDDiagnosed based on the clinical criteria and the details clinical diagnosis refer to the inclusion criteria.from birth, to 18 years oldtuberous sclerosis complex，TSCDiagnosed based on the clinical criteria and genetic analysis. The details clinical diagnosis refer to the inclusion criteria. The genetic diagnosis of a TSC is established in a patient by identification of a heterozygous pathogenic variant (including exon or whole-gene deletions, intragenic deletions/insertions, missense, nonsense, and splice site variants) in TSC1 or TSC2 using a multigene panel sequencing test (Agilent ClearSeq Inherited Disease panel kit).from birth, to 18 years oldFalse18FalseFalseFalseFalse NCT03863119VBP15-EAPSanthera PharmaceuticalsINDUSTRYExpanded Access Protocol for Boys With Duchenne Muscular Dystrophy2023-09AVAILABLEThe intent of this protocol is to provide continued access to vamorolone for subjects in the United States who Have Completed the VBP15-LTE, VBP15- 004, or VBP15-006 protocols (and are thereby ineligible to enroll in another trial of vamorolone therapy), during the time a new drug application for vamorolone is under preparation and review.EXPANDED_ACCESSInclusion Criteria: * Subject's parent or legal guardian has provided written informed consent/HIPAA authorization * Subject has previously completed at a participating US or Canada study site VBP15-LTE up to and including the Month 24 assessments, OR VBP15-004 up to and including the Week 48 assessments, VBP15-006 up to and including the Week 12 assessment * Subject and parent/guardian are willing and able to comply with recommended study drug administration plan, and standard of care follow-up and monitoring as recommended by their Treating Physician Exclusion Criteria: * Subject had a serious or severe adverse event in study VBP15-LTE or VBP15-004 or VBP15-006 that, in the opinion of the Treating Physician and Sponsor, was probably or definitely related to vamorolone use and precludes safe use of vamorolone for the subject in this expanded access program * Subject and/or parent/guardian are unable and/or unwilling to comply with regular medical care and follow-up as recommended by their Treating Physician throughout participation in the VBP15-EAPMALE2024-10-18T00:00:002019-02-212019-03-042023-11-072019-03-052023-11-09The intent of this protocol is to provide continued access to vamorolone for subjects in the United States who Have Completed the VBP15-LTE, VBP15- 004, or VBP15-006 protocols (and are thereby ineligible to enroll in another trial of vamorolone therapy), during the time a new drug application for vamorolone is under preparation and review.Duchenne Muscular DystrophyFalseFalseFalseFalse NCT05514249CS-CRD-TMH-001Cure Rare Disease, IncOTHERTreatment of a Single Patient With CRD-TMH-0012022-08UNKNOWNThe study is a single patient study intended to understand the effects of a gene-editing therapeutic to treat a rare mutation of Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Completion of informed consent * Confirmation of genetic mutation * Confirmation of absence of elevated AAV9 NAbs Exclusion Criteria: - Any significant medical issue(s) (past or current) that would, in the opinion of the Principal Investigator (PI), prevent this patient from being dosed.MALE2024-10-18T00:00:002022-08-112022-08-222022-08-312022-08-242022-09-012022-08-312023-092023-09falseTrueFalseThe study is a single patient study intended to understand the effects of a gene-editing therapeutic to treat a rare mutation of Duchenne muscular dystrophy.Duchenne Muscular DystrophyPHASE11To assess the safety of CRD-TMH-001To assess the safety and tolerability of the therapeutic by measuring both serious and non-serious adverse events.1 yearFalse1828FalseFalseFalseFalse NCT00033813APHP220088Assistance Publique - Hôpitaux de ParisOTHERNatural History of Duchenne Muscular Dystrophy Cardiomyopathy (DMD-CMP)2023-10NOT_YET_RECRUITINGThe purpose of this study is to describe the progression of tissular and functional myocardial abnormalities in patients with Duchenne muscular dystrophy using cardiac magnetic resonance imaging and blood biomarkers assays.INTERVENTIONALInclusion Criteria : * Age \>= 6 years * Genetically proven Duchenne muscular dystrophy * Affiliation to French medical insurance * Informed consent provided Exclusion Criteria : * Age \<6 years * Left ventricular ejection fraction \<30% * Tracheostomy of hospitalisation for acute respiratory failure \<1 year * Contraindication to MRI: claustrophobia, Gadolinum allergyMALE2024-10-18T00:00:002022-04-152022-09-262023-10-272022-09-282023-10-302024-112029-022029-04falseFalseFalseThe purpose of this study is to describe the progression of tissular and functional myocardial abnormalities in patients with Duchenne muscular dystrophy using cardiac magnetic resonance imaging and blood biomarkers assays.Duchenne Muscular DystrophyNA150Late gadolinium enhancement burden on cardiac MRI2 yearsGlobal T1 on cardiac MRI2 yearsGlobal T2 on cardiac MRI2 yearsGlobal extracellular volume on cardiac MRI2 yearsLeft ventricular ejection fraction on cardiac MRI2 yearsLeft ventricular systolic circumferentiel strain ejection fraction on cardiac MRI2 yearsLeft ventricular systolic radial strain ejection fraction on cardiac MRI2 yearsLeft ventricular systolic longitudinal strain on cardiac MRI2 yearsNTproBNP assay in the blood2 yearsTroponin I assay in the blood2 yearsFalse6FalseFalseFalseFalse NCT03786913BenhaU122018Benha UniversityOTHERQuantitative Muscle Ultrasound as a Marker of Progression in Children With Muscular Diseases2019-02COMPLETEDThe aim of our study is to Assess skeletal muscle structural status in children with inflammatory myositis and Duchenne muscular dystrophy using musculoskeletal ultrasound and to perform a longitudinal follow up of these changes over 2 years and to assess the relation between these findings with clinical parameters, functional scales, biochemical and electromyographic tests.OBSERVATIONALInclusion Criteria: * children with Duchenne muscular dystrophy (DMD). Diagnosis with DMD was established according to DMD diagnostic criteria (Jennekens et al., 1991). * children with juvenile dermatomyositis (JDM) according to Bohan and Peter diagnostic criteria ( (Bohan and Peter, 1975). Exclusion Criteria: * Patients with age less than 2 years were excluded from the study due to inability to perform manual muscle testing and functional scales. * If no final diagnosis could be established. * The presence of a concomitant illness that may result in peripheral neuropathy or myopathy.ALL2024-10-18T00:00:002018-12-212018-12-212019-02-072018-12-262019-02-082016-03-082019-02-022019-02-02FalseFalseThe aim of our study is to Assess skeletal muscle structural status in children with inflammatory myositis and Duchenne muscular dystrophy using musculoskeletal ultrasound and to perform a longitudinal follow up of these changes over 2 years and to assess the relation between these findings with clinical parameters, functional scales, biochemical and electromyographic tests.Inflammatory Myopathy;Duchenne Muscular Dystrophy48Kendall's manual muscle testingKendall's 0 -10 point scale measures strength of each muscle group score 0 is the weakest (worst) and 10 is the strongest (best). The following muscles were tested bilaterally: the biceps brachii muscle (BB), the forearm flexors (FF), the rectus femoris muscle (RF), the tibialis anterior muscle (TA)24 monthsChildhood myositis assessment scaleused to assess the severity of muscle involvement in children with dermatomyositis. The scores for the 14 items are summated to give a total score ranging from 0 (worst) to 52 (best)24 monthsSerum creatine kinase (CK) levelsCK measured in U/L using ELISA24 monthsSerum Lactate dehydrogenase (LDH) levelsCK measured in IU/L using ELISA24 monthsAspartate aminotransferase (AST)AST measured in U/L using ELISA24 MONTHSalanine aminotransferase (ALT)ALT measured in U/L using ELISA24 monthsmotor unit potential (MUP) durationquantitative electromyography (QEMG) in the most affected rectus femoris and biceps brachii muscles will be performed and The motor unit potentials will be reviewed offline for the needle-detected EMG signals will be analyzed by the device software for the MUP duration measured in milliseconds.24 monthsmotor unit peak-to-peak amplitudequantitative electromyography (QEMG) in the most affected rectus femoris and biceps brachii muscles will be performed and The motor unit potentials will be reviewed offline for the needle-detected EMG signals will be analyzed by the device software for the peak-to-peak amplitude measured in microvolt24 monthsmotor unit area to amplitude ratio (AAR)quantitative electromyography (QEMG) in the most affected rectus femoris and biceps brachii muscles will be performed and The motor unit potentials will be reviewed offline for the needle-detected EMG signals will be analyzed by the device software for the motor unit AAR .24 months216FalseFalseFalseFalse NCT0150651811-1509University of North Carolina, Chapel HillOTHERDouble Push Acoustic Radiation Force (DP ARF) Ultrasound for Monitoring Degeneration in Duchenne Muscular Dystrophy2021-05COMPLETEDThis is a pilot clinical trial to assess the ability of a new ultrasound-based imaging method, Double-Push Acoustic Radiation Force (DP ARF) ultrasound, to monitor the progression of Duchenne muscular dystrophy. The hypothesis being tested is that DP ARF ultrasound delineates changes in muscle composition and function in individual dystrophic muscles, from early through late stages of disease development, that correlate to time to loss of ambulation in patient volunteers.OBSERVATIONALInclusion Criteria: * Clinical diagnosis of Duchenne muscular dystrophy with clinical onset by age 5 * Ability to stand, alone or with assistance, at time of enrollment * Ability to communicate with pertinent staff * Ability to understand and comply with study requirements * Ability to give informed consent. Exclusion Criteria: * Confirmed diagnosis of other muscle disease * Previous compartment syndrome * Previous injury to selected limbs * Previous vascular surgery to selected limbs * History of a compressive neuropathy (e.g., sciatic, femoral or tibial palsy in leg) * History of rhabdomyolysisMALE2024-10-18T00:00:002011-12-222012-01-052021-07-292012-01-102021-08-022012-012020-05-312020-05-31falseThis is a pilot clinical trial to assess the ability of a new ultrasound-based imaging method, Double-Push Acoustic Radiation Force (DP ARF) ultrasound, to monitor the progression of Duchenne muscular dystrophy. The hypothesis being tested is that DP ARF ultrasound delineates changes in muscle composition and function in individual dystrophic muscles, from early through late stages of disease development, that correlate to time to loss of ambulation in patient volunteers.Muscular Dystrophy, Duchenne60Change in DP ARF marginal peak displacementMarginal peak displacement (MPD) is a metric developed to qualitatively describe the degree of nonlinearity in the viscoelastic properties of tissue: MPD = (P2-D)/P1, where P1 and P2 are the first and second peak displacement achieved in tissue by the first and second ARF excitations, respectively, and d is the ARF-induced displacement remaining at the time of the second push.once every 4 months for 4 years for 12 total measuresRate of change in DP ARF marginal peak displacementrates of change in marginal peak displacement will be measured from time-point to time-point (every 4 months) and across multiple time points (spanning 8 months to 4 years).4 months to 4 yearsChange in quantitative muscle testing score of maximum voluntary isometric contraction (MVIC)standard quantitative muscle testing of maximum voluntary isometric contraction (MVIC) in the rectus femoris, cranial sartorius, gastrocnemius, and lateral deltoid muscles of the right limbs.every 4 months for 4 yearsChange in time to rise from supine position to standingstandard time to standing timed function testevery 4 months for 4 yearsChange in distance walked in six minutesstandard six-minute walk timed function testevery 4 months for 4 yearsChange in time to walk 30 feetstandard 30-feet walk timed function testevery 4 months for 4 yearsRate of change in maximum voluntary isometric contraction (MVIC)rate of change in maximum voluntary isometric contraction (MVIC) will be assessed from time-point to time-point (4 month separation between measures) and across time-points (8 months to 4 years time separation between measures).4 months to 4 yearsRate of change in time to rise from supine to standing positionrate of change in time to standing timed function test score will be assessed from time-point to time-point (4 month separation between measures) and across time-points (8 months to 4 years time separation between measures).4 months to 4 yearsRate of change in distance walked in six minutesrate of change in six-minute walk timed function test score will be assessed from time-point to time-point (4 month separation between measures) and across time-points (8 months to 4 years time separation between measures).4 months to 4 yearsRate of change in time to walk 30 feetrate of change in 30-feet walk timed function test score will be assessed from time-point to time-point (4 month separation between measures) and across time-points (8 months to 4 years time separation between measures).4 months to 4 yearsAge at loss of ambulationLoss of ambulation will be diagnosed by the patient volunteer's physician. The patient volunteer's age at the time loss of ambulation is first diagnosed will be recorded.4 yearsChange in percent degenerative muscle compositionMuscle boundaries will be hand-delineated using matched B-Mode image guidance in DP ARF marginal peak displacement parametric images. Within each 2D muscle image, percent degenerative area (Ad) will be calculated as T/N, where N is the total muscle area (number of pixels x area/pixel) and T is the muscle area in which marginal peak displacement values are within thresholds for necrosis, fat or fibrous tissue identification.every 4 months for 4 yearsChange in percent necrotic tissue areaMuscle boundaries will be hand-delineated using matched B-Mode image guidance in DP ARF marginal peak displacement parametric images. Within each 2D muscle image, percent necrotic area (An) will be calculated as n/N, where N is the total muscle area (number of pixels x area/pixel) and n is the muscle area in which marginal peak displacement values are within thresholds for necrosis.every 4 months for 4 yearsChange in percent fat tissue areaMuscle boundaries will be hand-delineated using matched B-Mode image guidance in DP ARF marginal peak displacement parametric images. Within each 2D muscle image, percent fatty deposition area (Af) will be calculated as f/N, where N is the total muscle area (number of pixels x area/pixel) and f is the muscle area in which marginal peak displacement values are within thresholds for fat tissue identification.every 4 months for 4 yearsChange in percent fibrotic tissue areaMuscle boundaries will be hand-delineated using matched B-Mode image guidance in DP ARF marginal peak displacement parametric images. Within each 2D muscle image, percent degenerative area (Ac) will be calculated as c/N, where N is the total muscle area (number of pixels x area/pixel) and c is the muscle area in which marginal peak displacement values are within thresholds for fibrous tissue identification.every 4 months for 4 yearsFalse513FalseFalseFalseFalse NCT06103006003/2021Lokman Hekim ÜniversitesiOTHER_GOVRemote Physiotherapy to Protect Physical Health in Duchenne Muscular Dystrophy2023-10COMPLETEDDuchenne Muscular Dystrophy (DMD) is a progressive genetic neuromuscular disease characterized by progressive loss of motor function, respiratory failure, and cardiomyopathy required regular physiotherapy. With the outbreak of the pandemic rehabilitation centers that make up the weekly physiotherapy routine of children with disabilities have slowed down or even stopped their activities. So DMD who have additional diseases such as respiratory muscle weakness, spinal deformity, obesity, and cardiac dysfunction have also been negatively affected. The 'telerehabilitation' method, which is well planned and prepared for the abilities and needs of patients and caregivers, is seen as a good option at this point. Studies, reporting the feasibility and safety of telerehabilitation in joint replacement, multiple sclerosis, and post-operative conditions, report that the length of stay was reduced, there was access to the same level of service regardless of the distance, and there was no travel cost. Despite these advantages, the framework and applicability of telerehabilitation programs have been investigated limited and not focused on effectiveness of telerehabilitation in patients with DMD. According to the current knowledge, telerehabilitation in DMD is a subject that needs to be investigated in terms of its benefits. So, in this study, it was aimed to show the telerehabilitation's feasibility and its effects on performance level, endurance, fall frequency, pulmonary functions, and satisfaction level with the program in individuals with DMD.INTERVENTIONALInclusion Criteria: * Able to communicate verbally and visually, * Older than 5 years old Exclusion Criteria: * Individuals who had undergone any surgical operations in the past 6 months, * Had a severe cognitive and breathing impairment, * Using mechanical ventilator continually or intermittent, * Having febrile infectionALL2024-10-18T00:00:002023-10-222023-10-222023-10-262023-10-262023-10-272021-01-012022-01-012022-02-10FalseFalseDuchenne Muscular Dystrophy (DMD) is a progressive genetic neuromuscular disease characterized by progressive loss of motor function, respiratory failure, and cardiomyopathy required regular physiotherapy. With the outbreak of the pandemic rehabilitation centers that make up the weekly physiotherapy routine of children with disabilities have slowed down or even stopped their activities. So DMD who have additional diseases such as respiratory muscle weakness, spinal deformity, obesity, and cardiac dysfunction have also been negatively affected. The 'telerehabilitation' method, which is well planned and prepared for the abilities and needs of patients and caregivers, is seen as a good option at this point. Studies, reporting the feasibility and safety of telerehabilitation in joint replacement, multiple sclerosis, and post-operative conditions, report that the length of stay was reduced, there was access to the same level of service regardless of the distance, and there was no travel cost. Despite these advantages, the framework and applicability of telerehabilitation programs have been investigated limited and not focused on effectiveness of telerehabilitation in patients with DMD. According to the current knowledge, telerehabilitation in DMD is a subject that needs to be investigated in terms of its benefits. So, in this study, it was aimed to show the telerehabilitation's feasibility and its effects on performance level, endurance, fall frequency, pulmonary functions, and satisfaction level with the program in individuals with DMD.Duchenne Muscular DystrophyNA42EnduranceNumber of times the individuals can flexed and extend their knees in a sitting position for 30 seconds. Also, the number of elbow flexion/extension was recordedChange from baseline at 8 weeksModified Upper Extremity Performance TestFlexion the shoulder to 90 degrees, flexion the shoulder above 90 degrees (above eye level), abduction of the shoulder 90 degrees, abduction of the shoulder above 90 degrees, doing the same movements with weight, bringing the empty glass to the mouth in a sitting position, bringing the full glass to the mouth were evaluated. It was scored as 0 point (cannot), 1 point (can do with compensation), 2 points (does independently). In addition, the time to pick up 5 coins (50 cents size coin or similar) on the table with one hand was recorded .Change from baseline at 8 weeks10 Meter (m) Walking TestThe distance of 10 m was determined in a suitable indoor environment, the individual was asked to walk this distance and the time that the patient walked was recorded.Change from baseline at 8 weeksStand Up from the Supine Position TestDepending on the severity of the disease, this period is extended. Depending on the weakness of the hip and shoulder girdle and trunk muscles, there is a movement model that the individuals use by climbing over himself. While the individual is getting up from the ground, the mother and the physiotherapist keep time with a stopwatch.Change from baseline at 8 weeksSingle Breath Count (SBC)Single breath count (SBC) is the maximum measure of serial counting of numbers in normal speaking voice after a maximal inhalation. SBC has good correlation with the gold standard measures of pulmonary function test (PFT), peak expiratory flow rate (PEFR), and forced expiratory volume in the first second (FEV1). The value reached is recorded when the patient counts audibly in a single expiration after maximum inspiratory effort. The instruction is: "Breathe well, count as many counts as possible while exhaling". The total number is recorded and evaluated in 4 categories: \>30: 1, 20-29:2, 10-19: 3, \<9:4.Change from baseline at 8 weeksPatient Satisfaction Survey15 items survey was developed by the researchers. 5 likert pointed scale range was "5: excellent" and "1=bad". The items were about internet/connection, physiotherapist's guidance, timing, level of knowledge, reassurance, comfort, information/suggestions, the intelligibility of information, and general satisfaction. A total score was used to calculate percent value \[(100 X Total score)/15\].After 8 weeksBrooke Upper Extremity ScaleThe Brooke scale was used to classify upper extremity functioning with scores from 1 to 6 (higher scores indicate worse functionality).Change from baseline at 8 weeksBrooke Lower Extremity ScaleThe functional ability for all of the subjects with DMD was also ranked by a physical therapist using the Brooke Lower Extremity Functional Scale. This scale ranges from a grade of 1 (able to walk and climb stairs independently) to a grade of 10 (confined to bed).Change from baseline at 8 weeksFrequency of fallingThe number of falls that occurred per day before the study and the frequency of falls after 8 weeks of exercise were questioned verbally.Change from baseline at 8 weeksFalse526FalseFalseFalseFalse NCT01910649114673BioMarin PharmaceuticalINDUSTRYA Phase I/II, Open Label, Escalating Dose, Pilot Study to Assess Effect, Safety, Tolerability and PK of Multiple SC Doses of Drisapersen in Patients With Duchenne Muscular Dystrophy and to Assess the Potential for IV Dosing as an Alternative Route of Administration2016-11TERMINATEDThe purpose of the extension phase of this study is to determine whether Drisapersen is effective in the treatment of boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.INTERVENTIONALInclusion Criteria: * Boys aged between 5 and 16 years inclusive. * Duchenne muscular dystrophy resulting from a mutation correctable by treatment with PRO051. * Not ventilator dependent. * Life expectancy of at least six months. * No previous treatment with investigational medicinal treatment within six months prior to the study. * Willing and able to adhere to the study visit schedule and other protocol requirements. Exclusion Criteria: * Aberrant RNA splicing and/or aberrant response to PRO051, detected by in vitro PRO051 assay during screening. * Known presence of dystrophin in 5% of fibers in a pre-study diagnostic muscle biopsy. * Severe muscle abnormalities defined as increased signal intensity in \>50% of the tibialis anterior muscle at MRI. * FEV1 and/or FVC \<60% of predicted. * Current or history of liver or renal disease. * Acute illness within 4 weeks prior to treatment (Day 1) which may interfere with the measurements. * Severe mental retardation which in the opinion of the investigator prohibits participation in this study. * Severe cardiac myopathy which in the opinion of the investigator prohibits participation in this study. * Need for mechanical ventilation. * Creatinine concentration above 1.5 times the upper limit of normal (age corrected). * Serum ASAT and/or ALAT concentration(s) which suggest hepatic impairment. * Use of anticoagulants, antithrombotics or antiplatelet agents. * Subject has donated blood less than 90 days before the start of the study. * Current or history of drug and/or alcohol abuse. * Participation in another trial with an investigational product.MALE2024-10-18T00:00:002012-08-022013-07-252016-11-042013-07-292016-11-062008-032016-092016-09trueThe purpose of the extension phase of this study is to determine whether Drisapersen is effective in the treatment of boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.Muscular DystrophiesPHASE212Acute phase: Safety dataSummarized per dose group18 weeksAcute phase and Continued Treatment Phase : Pharmacokinetics measured by T1/2, Cmax, Ctrough, 7d, tmax, and volume of distribution and clearancePlasma concentration versus time profiles of PRO051 (GSK2402968)18 weeksAcute phase and Continued Treatment Phase : Safety as assessed by the collection of adverse events (AEs)Change from baseline and summarized values72 weeksContinued Treatment Phase :Safety as assessed by laboratory parametersChange from baseline and summarized values72 weeksAcute phase: Production of exon skip 51 messenger Ribonucleic acid (mRNA)18 weeksAcute phase: Presence of dystrophin expression18 weeksAcute phase: Muscle functionTimed tests and 6-minutes walk18 weeksAcute phase: Muscle strengthQuantitative Muscle Testing \[QMT\]- Cooperative International Neuromuscular Research Group (CINRG) and Manual Muscle Testing \[MMT\]18 weeksContinued Treatment Phase: Exon skip efficiency72 weeksContinued Treatment Phase Dystrophin expression in muscle biopsy72 weeksContinued Treatment Phase: Muscle functionTimed tests and 6-minutes walk300 weeksContinued Treatment Phase: Muscle strengthHandheld myometry and spirometry300 weeksFalse516FalseFalseFalseFalse NCT023109064053-101Sarepta Therapeutics, Inc.INDUSTRYPhase I/II Study of SRP-4053 in DMD Patients2020-10COMPLETEDThis is a first-in-human, multiple-dose 2-part study to assess the safety, tolerability, efficacy, and pharmacokinetics of SRP-4053 in Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 53 skipping.INTERVENTIONALInclusion Criteria: * Diagnosed with DMD, genotypically confirmed. * Intact right and left biceps muscles or an alternative upper arm muscle group. * Stable pulmonary and cardiac function. * Minimum performance on 6MWT, North Star Ambulatory Assessment, and rise (Gowers) test as specified in the study protocol. * On a stable dose of corticosteroids for at least 6 months. Exclusion Criteria: * Previous treatment with the experimental agents BMN-195 (SMT C1100) or PRO053. * Current or previous treatment with any other experimental treatments within 12 weeks prior to study entry. * Major surgery within the last 3 months. * Presence of other clinically significant illness. * Major change in physical therapy regime within the last 3 months. Other inclusion and exclusion criteria may apply.MALE2024-10-18T00:00:002014-12-032014-12-052020-10-142014-12-082020-10-192015-01-132019-03-252019-03-25trueTrueFalseThis is a first-in-human, multiple-dose 2-part study to assess the safety, tolerability, efficacy, and pharmacokinetics of SRP-4053 in Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 53 skipping.Duchenne Muscular DystrophyPHASE1PHASE239Part 1: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs and TEAEs Leading to DiscontinuationAdverse event (AE) was any untoward medical occurrence in a clinical trial participant, which does not necessarily have a causal relationship with the investigational drug. A Serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; Required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. TEAEs were defined as AEs that were reported or worsened on or after the start of study drug dosing through 12 weeks. TEAEs included both Serious TEAEs and non-serious TEAEs.Baseline up to Week 12Part 1: Number of Participants With Potentially Clinically Significant (PCS) Laboratory Abnormalities Reported as TEAEsLaboratory parameters included hematology, serum chemistry (SC), urinalysis and coagulation. Number of participants with at least one potentially clinically significant abnormal finding were reported as TEAEs. The Investigator determined whether abnormal assessment results were potentially clinically significant or not. Potentially clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to Week 12Part 1: Number of Participants With Potentially Clinically Significant Abnormalities in Vital Signs Reported as TEAEsVital sign parameters included systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and body temperature. Number of participants with at least one potentially clinically significant abnormal vital signs findings were reported as TEAEs. The Investigator determined whether abnormal assessment results were potentially clinically significant or not. Potential clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to Week 12Part 1: Number of Participants With Potentially Clinically Significant Abnormalities in Physical ExaminationsPhysical examinations were performed by the Investigator, or qualified study staff. A full physical examination included a review of general appearance, head, eyes, ears, nose and throat, heart, lungs, abdomen, extremities, skin, lymph nodes, musculoskeletal, and neurological systems. Number of participants with potentially clinically significant abnormalities in physical examinations were reported. Potentially clinically significant abnormalities in physical examinations were based on Investigator's discretion.Baseline up to Week 12Part 1: Number of Participants With Potentially Clinically Significant Abnormalities in Electrocardiogram (ECG) Reported as TEAEsTwelve-lead ECGs were performed at a consistent time of day throughout the study. Electrocardiograms were performed only after the participant was in the supine position, resting, and quiet for a minimum of 15 minutes. The ECG was manually reviewed and interpreted by medically qualified personnel. Number of participants with potentially clinically significant abnormalities in ECG reported as TEAEs presented here. The Investigator determined whether abnormal assessment results were potentially clinically significant or not.Baseline up to Week 12Part 1: Number of Participants With Potentially Clinically Significant Abnormalities in Echocardiograms (ECHO)Standard, 2-dimensional ECHOs were performed at a consistent time of day throughout the study. Cardiac function events included cardiomegaly, tachycardia, and dyspnoea. The ECHO was reviewed and interpreted by medically qualified personnel. Number of participants with potentially clinically significant abnormalities in ECHO were reported.Baseline up to Week 12Part 2a: Change From Baseline in the Total Distance Walked During 6-Minute Walk Test (6MWT) at Week 144 in Total Golodirsen Group6MWT was performed by standardized procedures for all participants. Participants were asked to walk a set course of 25 meters for 6 minutes (timed), and the distance walked (in meters) was recorded. Change from baseline in 6MWT distance at Week 144 in total golodirsen group was reported.Baseline and Week 144Part 2b: Change From Baseline in the Total Distance Walked During 6-Minute Walk Test (6MWT) at Week 144 in Untreated Group (Non-exon 53 Amenable Participants)6MWT was performed by standardized procedures for all participants. Participants were asked to walk a set course of 25 meters for 6 minutes (timed), and the distance walked (in meters) was recorded. Change from baseline in 6MWT distance at Week 144 in untreated group (non-exon 53 amenable participants) was calculated.Baseline and Week 144Part 2a: Change From Baseline in Dystrophin Protein Levels Determined by Western Blot at Week 48 in Total Golodirsen GroupChange from baseline in dystrophin protein levels (in muscle biopsy samples) was determined by Western blot in total golodirsen group.Baseline, Week 48Part 1: Maximum Plasma Concentration (Cmax) of GolodirsenMaximum Concentration (Cmax) of golodirsen in plasma was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Time to Reach Maximum Plasma Concentration (Tmax) of GolodirsenTime to reach maximum plasma concentration (Tmax) of golodirsen was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Area Under the Concentration-Time Curve From Time Zero Extrapolated to the Infinity (AUCinf) of Golodirsen in PlasmaArea under the concentration-time curve from time zero extrapolated to the infinity was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Apparent Volume of Distribution at Steady State (Vss) of GolodirsenVolume of distribution was defined as the theoretical volume in which the total amount of drug would need to be uniformly distributed to produce the desired plasma concentration of a drug. Apparent volume of distribution at steady state of golodirsen was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Elimination Half-life (T1/2) of GolodirsenT1/2 is the time measured for the plasma concentration of drug to decrease by one half. T1/2 of golodirsen was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Total Clearance (CL) of GolodirsenDrug clearance is a quantitative measure of the rate at which a drug substance is removed from the blood.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Mean Residence Time (MRT) of GolodirsenMRT= AUMCinf/AUCinf, where AUMCinf is the area under the first moment curve from time 0 extrapolated to infinite time, calculated using the linear/log trapezoidal method. Mean residence time of golodirsen was evaluated.Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)Part 1: Renal Clearance (CLR) of GolodirsenRenal clearance was calculated using the partial AUC0-24 from the non-compartmental analysis in plasma and AE0-24. AUC0-24 was defined as area under the plasma concentration-time curve, from time 0 to 24 hours after completion of dosing. AE0-24 was defined as total cumulative amount excreted from 0 to 24 hours. Summarized data of all urine collection intervals are reported.0 to 1440 min after initiation of dosing on Day 1Part 2a: Percent Change From Baseline in Forced Vital Capacity Predicted (FVC%p) at Week144 in Total Golodirsen GroupFVC was the total amount of air exhaled during the forced expiratory volume test that was measured during spirometry and the most important measurement of lung function. This test required participant to breath into a tube connected to a machine that measures the amount of air that can be moved in and out of the lungs after taking an inhaled bronchodilator medicine which was used to dilate participant bronchial (breathing) tubes. Percent of predicted FVC = (observed value)/ (predicted value) \* 100%.Baseline, Week 144Part 2b: Percent Change From Baseline in Forced Vital Capacity Predicted (FVC%p) at Week144 in Untreated Group (Non-exon 53 Amenable Participants)FVC was the total amount of air exhaled during the forced expiratory volume test that was measured during spirometry and is the most important measurement of lung function. This test requires participant to breath into a tube connected to a machine that measures the amount of air that can be moved in and out of the lungs after taking an inhaled bronchodilator medicine which was used to dilate participant bronchial (breathing) tubes. Percent of predicted FVC = (observed value)/ (predicted value) \* 100%.Baseline, Week 144Part 2a: Change From Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Week 48 in Total Golodirsen GroupChange from baseline in dystrophin Intensity levels (in muscle biopsy samples) was determined by Immunohistochemistry in total golodirsen group.Baseline, Week 48Part 2a: Percent Change From Baseline in Exon 53 Skipping Determined by Reverse Transcription Polymerase Chain Reaction (PCR) at Week 48 in Total Golodirsen GroupPercent change from baseline in Exon 53 skipping (in muscle biopsy samples) was determined by reverse transcription polymerase chain reaction in total golodirsen group.Baseline, Week 48Part 2a: Percent Change From Baseline in Dystrophin Positive Fibers Determined by Immunohistochemistry (IHC) at Week 48 in Total Golodirsen GroupPercent change from baseline in dystrophin positive fibers (in muscle biopsy samples) were determined by Immunohistochemistry at Week 48 in total golodirsen group.Baseline, Week 48False615TrueFalseFalseFalse NCT03127241GUP 15021Politecnico di MilanoOTHERUser-centred Assistive System for Arm Functions in Neuromuscular Subjects2019-12COMPLETEDRestore a lost function is a special experience for people affected by neuromuscular evolutive diseases. "From the patient's point of view improvement is measured by regaining lost abilities,-by being able to do something -anything-today I couldn't do yesterday ". Upper limb pain, stiffness and activity limitations have a crucial role in reducing patients' autonomy and worsening quality of life. Real users' needs have been identified thought several workshops, and even if the commercial products might assure a benefit to some users and meet most of their requirements, so far a validation of the use of such devices by people with neuromuscular disease is missing. We aim at field-testing the improvement in arm functions provided by the use of some commercial devices and assessing their impact to users' quality of life and independence. This step is essential to assure a widespread accessibility to these devices for most of the potential users, possibly providing health providers with direction and guidance towards Health Technology Assessment. Clinical Trial design - The study proposes on-field validation of JAECO WREX, passive antigravity exoskeleton; and Armon Ayura, motorized arm exoskeleton for gravity compensation in a randomized controlled trial with crossover design. The clinical study will is multi-centric, involving both MEDEA and VALDUCE, and received the Ethical Committee approval.INTERVENTIONALInclusion criteria * signed informed consent (we will expose the family the aims of our study and carefully describe the need of compliance with them) * diagnosis of muscular dystrophy (genetic, histological and biochemical if necessary),specifically with Duchenne, Becker and Limb Girdle type 2 muscular dystrophy. No muscle biopsy will be performed, except in case there is a diagnostic need. * being wheelchair bound * having a scoring at the MRC scale for upper limb at the deltoid, biceps, triceps brachii muscles ranging from 2 to 4. Exclusion criteria * presence of additional diseases (for example: family history of mental retardation, epilepsy, cerebral palsy) * behavioral and psychiatric disturbances (emotional problems, depression) * absence of compliance to the study of the family and the caregiversALL2024-10-18T00:00:002017-04-202017-04-242019-12-092017-04-252019-12-102017-06-162019-11-302019-11-30FalseFalseRestore a lost function is a special experience for people affected by neuromuscular evolutive diseases. "From the patient's point of view improvement is measured by regaining lost abilities,-by being able to do something -anything-today I couldn't do yesterday ". Upper limb pain, stiffness and activity limitations have a crucial role in reducing patients' autonomy and worsening quality of life. Real users' needs have been identified thought several workshops, and even if the commercial products might assure a benefit to some users and meet most of their requirements, so far a validation of the use of such devices by people with neuromuscular disease is missing. We aim at field-testing the improvement in arm functions provided by the use of some commercial devices and assessing their impact to users' quality of life and independence. This step is essential to assure a widespread accessibility to these devices for most of the potential users, possibly providing health providers with direction and guidance towards Health Technology Assessment. Clinical Trial design - The study proposes on-field validation of JAECO WREX, passive antigravity exoskeleton; and Armon Ayura, motorized arm exoskeleton for gravity compensation in a randomized controlled trial with crossover design. The clinical study will is multi-centric, involving both MEDEA and VALDUCE, and received the Ethical Committee approval.Muscular Dystrophies;Muscular Dystrophy, Duchenne;Muscular Dystrophy, Becker;Muscular Dystrophy, Limb-Girdle Type 2NA38Performance of the Upper Limb (PUL) scaleThe PUL includes 22 items with an entry item to define the starting functional level, and 21 items subdivided into shoulder level (4 items), middle level (9 items) and distal level (8 items) dimension. For weaker patients a low score on the entry item means high level items do not need to be performed. Scoring options vary across the scale between 0-1 to 0-6 according to performance. Each dimension can be scored separately with a maximum score of 16 for the shoulder level, 34 for the middle level, and 24 for the distal level . A total score can be achieved by adding the three level scores (max total score 74).T0 (baseline); T1 (after 3-days short training with device 1); T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)Motor Function Measures scale (MFM)MFM is a quantitative scale that makes it possible to measure the functional motor abilities of a person affected by a neuromuscular disease.T0 (baseline); T1 (after 3-days short training with device 1); T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)Brooke scaleThe Brooke scale was designed to assess the upper extremity function. The grades of the Brooke scale range from 1 to 6; 1 means that the subject can elevate their arms full range to the head with the arms straight; while 2 means that the shoulder strength is insufficient to elevate their arms and the subject needs to flex the elbow to elevate the arms; in grades 3 and 4, the subject is unable to elevate the shoulders but can raise hands to the mouth with or without weight respectively; grade 5 refers to the subject being unable to raise hands to the mouth and only some hand movement exists, while grade 6 refers to no useful function of hands.T0 (baseline); T1 (after 3-days short training with device 1); T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)ABILHANDa measure of manual ability to manage daily activities that require the use of the upper limbs, whatever the strategies involvedT0 (baseline); T1 (after 3-days short training with device 1); T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)PedsQLNeuromuscular module: composed of 25 items comprising 3 dimensions, i.e. about my neuromuscular disease (1-17); communication (1-3); and about our faily resources (1-5) Multidimensional Fatigue module: composed of 18 items comprising 3 dimensions, i.e. general fatigue (1-6); sleep/rest fatigue (1-6); and cognitive fatigue (1-6).T0 (baseline); T2 (after 2-weeks home use of device 1 - primary assessment point); T4 (after 2-weeks home use of device 2 - secondary assessment point)PROMIS FATIGUE Short FormThe PROMIS Fatigue instruments evaluate a range of self-reported symptoms, from mild subjective feelings of tiredness to an overwhelming, debilitating, and sustained sense of exhaustion that likely decreases one's ability to execute daily activities and function normally in family or social roles. Fatigue is divided into the experience of fatigue (frequency, duration, and intensity) and the impact of fatigue on physical, mental, and social activities. The Fatigue short form is universal rather than disease-specific. It assesses fatigue over the past seven days.T0 (baseline); T2 (after 2-weeks home use of device 1 - primary assessment point); T4 (after 2-weeks home use of device 2 - secondary assessment point)Personal Adjustment and Role Skills Scale (PARS) IIIPARS III to assesses the psychosocial adjustment of children with chronic physical illnesses and no mental impairment. The PARS III consists of 28 items that measure psychosocial functioning in six areas: peer relations, dependency, hostility, productivity, anxiety-depression, and withdrawal.T0 (baseline); T2 (after 2-weeks home use of device 1 - primary assessment point); T4 (after 2-weeks home use of device 2 - secondary assessment point)Technology Acceptance Model (TAM)Technology Acceptance Model (TAM) provides a valid and reliable measure that predicts the acceptance or adoption of new technologies by end-users. TAM predicts acceptance based on the end-user's perceived usefulness (6 items) and perceived ease of use (6 items) of the technology for a specific purpose.T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)System Usability Scale (SUS)the system usability scale (SUS) is a simple, ten-item attitude Likert scale giving a global view of subjective assessments of usability. Measurements of usability have several different aspects: effectiveness (can users successfully achieve their objectives); efficiency (how much effort and resource is expended in achieving those objectives); and satisfaction (was the experience satisfactory).T2 (after 2-weeks home use of device 1 - primary assessment point); T3 (after 3-days short training with device 2); T4 (after 2-weeks home use of device 2 - secondary assessment point)False15FalseFalseFalseFalse NCT01519349NCH-696110Nationwide Children's HospitalOTHERFollistatin Gene Transfer to Patients With Becker Muscular Dystrophy and Sporadic Inclusion Body Myositis2023-09COMPLETEDThe investigators are performing a gene therapy clinical trial in Becker muscular dystrophy (BMD) and sporadic inclusion body myositis (sIBM) patients. Both of these conditions have an important common feature: loss of ability to walk because of weakness of the thigh muscles. The investigators plan to do a gene therapy trial to deliver a gene to muscle called follistatin (FS344) that can build muscle size and strength. If successful, the investigators can increase the size of the thigh muscle and potentially prolong a patient's ability to walk. The gene will be carried into the muscle by a virus called adeno-associated virus (AAV). This virus occurs naturally in muscle and does not cause any human disease, setting the stage for its safe use in a clinical trial. Presently there is no treatment that can reverse Becker muscular dystrophy or sporadic inclusion body myositis. Only supportive care is currently possible. In this study, subjects with either of these diseases will have shots of the follistatin gene injected directly into thigh muscle on one (first cohort) or both legs (2nd and 3rd cohort). One hundred and eighty days following the gene delivery, the muscle will undergo biopsy to look closely at the muscle to see if the muscle fibers are bigger. Between the time of the gene transfer and the muscle biopsy, patients will be carefully monitored for any side effects of the treatment. This will include an MRI of the thigh muscle before treatment and at day 180 following treatment. Blood and urine tests, as well as physical examination will be done on the subjects during the screening visit and on days 0, 1, 2, 7, 14, 30, 60, 90, and 180 to make sure that there are no side effects from the gene injections. Sutures will be removed 2 weeks post-biopsy. Additional blood samples will be collected at 9, 12, 18, and 24 months. Patients will be seen at the end of 1st and 2nd years for a physical exam, assessment of muscle strength and appropriate blood tests.INTERVENTIONALInclusion Criteria: * All subjects \[sIBM and BMD must be ambulatory and have identifiable atrophy of the quadriceps muscle with muscle weakness ≥2 standard deviations below predicted using quantitative muscle testing (maximum voluntary isometric strength testing), and difficulty getting out of chairs, climbing stairs, and getting up from the floor. * sIBM patients include males and post-menopause females of any ethnic or racial group. Diagnosis of sIBM is based on previously published criteria that include distribution of weakness (knee extensor weakness, finger flexor weakness) and histological presence of inflammation and vacuolar myopathy. Patients with inflammation, vacuolar changes and intracellular amyloid deposits or 15/18nm filaments fulfill criteria irrespective of clinical features. * BMD patients include adult males (\>18yo) of any ethnic or racial group with proven mutation of dystrophin gene and continued ambulation after age 15 years old. * Ability to cooperate for muscle testing * Deficit in muscle strength greater than 2 standard deviation below age expectations * Willingness of sexually active subjects with reproductive capacity (only male population) to practice reliable method of contraception until two negative sperm samples are obtained post gene transfer Exclusion Criteria: * Active viral infection * History or evidence of active infection with hepatitis C, hepatitis A or B, or HIV * Patients with any other cause of muscle weakness based on medical history and screening physical exam including: myopathy (other dystrophies, polymyositis, and dermatomyositis), neuropathy (from any cause), myasthenia gravis, and weakness related to degenerative joint disease of the spine. * Ongoing immunosuppressive therapy or immunosuppressive therapy within 3 months of starting the trial (e.g. corticosteroids, cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab) * Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer. Patients taking any of the following drugs will be excluded: drugs for treatment of myopathy or neuropathy or agents used to treat diabetes mellitus * Knee or ankle contractures preventing proper muscle strength testing * Patients with AAV1 neutralizing antibody titers ≥ 1:1600 as determined by ELISA immunoassay * Patients with history of angina and patients with past history of myocardial infarction in the past 6 monthsALL2024-10-18T00:00:002012-01-232012-01-252023-09-292012-01-262023-10-022012-012017-102017-10trueThe investigators are performing a gene therapy clinical trial in Becker muscular dystrophy (BMD) and sporadic inclusion body myositis (sIBM) patients. Both of these conditions have an important common feature: loss of ability to walk because of weakness of the thigh muscles. The investigators plan to do a gene therapy trial to deliver a gene to muscle called follistatin (FS344) that can build muscle size and strength. If successful, the investigators can increase the size of the thigh muscle and potentially prolong a patient's ability to walk. The gene will be carried into the muscle by a virus called adeno-associated virus (AAV). This virus occurs naturally in muscle and does not cause any human disease, setting the stage for its safe use in a clinical trial. Presently there is no treatment that can reverse Becker muscular dystrophy or sporadic inclusion body myositis. Only supportive care is currently possible. In this study, subjects with either of these diseases will have shots of the follistatin gene injected directly into thigh muscle on one (first cohort) or both legs (2nd and 3rd cohort). One hundred and eighty days following the gene delivery, the muscle will undergo biopsy to look closely at the muscle to see if the muscle fibers are bigger. Between the time of the gene transfer and the muscle biopsy, patients will be carefully monitored for any side effects of the treatment. This will include an MRI of the thigh muscle before treatment and at day 180 following treatment. Blood and urine tests, as well as physical examination will be done on the subjects during the screening visit and on days 0, 1, 2, 7, 14, 30, 60, 90, and 180 to make sure that there are no side effects from the gene injections. Sutures will be removed 2 weeks post-biopsy. Additional blood samples will be collected at 9, 12, 18, and 24 months. Patients will be seen at the end of 1st and 2nd years for a physical exam, assessment of muscle strength and appropriate blood tests.Becker Muscular Dystrophy;Sporadic Inclusion Body MyositisPHASE115SafetySafety trial based on development of unacceptable toxicity defined as the occurrence of any Grade III or higher treatment-related toxicities.2 yearsMuscle Function and Strength Testing* Muscle function and strength: * MRI of quadriceps muscles (bilateral) * Muscle biopsies on quadriceps muscles (a muscle biopsy on one leg at baseline screening visit - except for cohort 1 - and the post gene transfer biopsy on the opposite leg at day 180) * Thigh circumference measurement at baseline and post-gene transfer follow up visits up to day 180 (prior to second biopsy)2 yearsFalse18FalseFalseFalseFalse NCT01540604Cardoz-004RSPR Pharma ABINDUSTRYCRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers2012-10COMPLETEDThis is an investigation of the efficacy and safety of CRD007 in Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and symptomatic carriers.INTERVENTIONALInclusion Criteria: * Documented diagnosis of dystrophinopathy Exclusion Criteria: * Severe functional impairmentALL2024-10-18T00:00:002012-02-232012-02-282012-10-012012-02-292012-10-02This is an investigation of the efficacy and safety of CRD007 in Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and symptomatic carriers.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE2FalseFalseFalseFalse NCT03879304UMalagaRVUniversity of MalagaOTHEREffectiveness of a Multimodal Physiotherapy Program With Virtual Reality Glasses in Duchenne and Becker.2024-05COMPLETEDDuchenne's Muscular Dystrophy and Becker Dystrophy, hereafter DMD and BMD, is a serious and progressive disease that affects 1 in 3,500-6,000 males born alive. Scale 6-minute walking test, is used for determine the inclusion of children with DMD in pharmacological studies. Furthemore, is used to verify a training effectiveness assessing muscular endurance and cardio-respiratory functions. This Research evaluates the feasibility and effectiveness of a multimodal physiotherapist program with virtual reality glasses.INTERVENTIONALInclusion Criteria: * Children between 4 and 15 years * Duchenne and Becker Diagnosis ICD-10 issued by specialist in neurology. * Children who can walk 10 m at last 120 seconds. * First punctuation of North Start Ambulatory assessment bigger than 20 points. Exclusion Criteria: * An other Dystrophies. * Older than 10 years. * Not Physiotherapy. Not walk. * Asociated heart disease Sprains, fractures. FC \>120, Sat O2 \<89%.ALL2024-10-18T00:00:002019-03-092019-03-152024-05-092019-03-182024-05-132021-03-152022-10-302023-03-11trueFalseFalseDuchenne's Muscular Dystrophy and Becker Dystrophy, hereafter DMD and BMD, is a serious and progressive disease that affects 1 in 3,500-6,000 males born alive. Scale 6-minute walking test, is used for determine the inclusion of children with DMD in pharmacological studies. Furthemore, is used to verify a training effectiveness assessing muscular endurance and cardio-respiratory functions. This Research evaluates the feasibility and effectiveness of a multimodal physiotherapist program with virtual reality glasses.Muscular Dystrophy, Duchenne and Becker TypesNA12Changes in six meter walking test (6-MWT) scoreSix-meter walking test is a a well-established outcome measure in a variety of diseases. It is accurate, reproducible, simple to administer, and well tolerated. The 6MWT is a robust assessment tool for use in clinical trials given its ability to quantitatively evaluate ambulation in a controlled environment.Baseline, up to six weeksEPInfantScale of perceived child effort measurement EPInfant. It shows 11 numerical descriptors (0 to 10), 5 verbal descriptors located every 2 levels of intensity, and a set of illustrations that represent a child running at increasing intensities along a scale of bars of incremental height following a exponential type slope from left to right. The higher value represent a worse outcome.through study completion, average 6 weeksNSAA o North Star Ambulatory AssessmentFunctional scale for children with DMD. It is expressed in points and evidences the acquisition of functions or the loss of them. Whilst DMD children may generally present with recognizable adaptations to activity due to the underlying progressive muscular weakness, they may modify their activity to achieve functional goals in slightly differing ways. Generally, activities are graded in the following manner: 2 - 'Normal' - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently. The better punctuation is 34 point, what mean the higher outcome.Baseline, up to 6 weeksMFM o Motor Function Measuremeasure motor performanceBaseline, up to 6 weeksKids Screen-52quality of life testBaseline.False415FalseFalseFalseFalse NCT015215462011H0251Ohio State UniversityOTHEREplerenone for Subclinical Cardiomyopathy in Duchenne Muscular Dystrophy2016-10COMPLETEDDuchenne muscular dystrophy (DMD), the most common muscular dystrophy, leads to skeletal and cardiac muscle damage. Treatment of pulmonary complications has improved survival; however, heart muscle disease or cardiomyopathy has emerged as a leading cause of death, typically by the third decade. Although myocardial changes begin early, clinically significant heart disease is rarely detected in the first decade of life. Consequently, DMD cardiomyopathy frequently goes unrecognized (and untreated) until advanced (and irreversible). Current DMD cardiovascular care guidelines recommend beta-blockers and angiotensin converting enzyme inhibitors (ACEIs) when decreased ejection fraction (EF) is noted by echocardiography (echo); however, this strategy has not significantly improved outcomes. Our team has recently made a breakthrough in a mouse study, showing in a model that causes the same heart muscle disease in humans with DMD adding an old medicine traditionally used for high blood pressure and late-stage heart failure can actually prevent heart muscle damage. Because of this drug's proven safety in both children and adults, it is ready to be studied immediately in an RCT in patients with DMD to hopefully show, as we did in mice, that we can prevent the devastating consequences of heart muscle damage.INTERVENTIONALInclusion Criteria: * DMD patients age 7 years and older (and able to complete cardiac MRI without sedation) with preserved left ventricular (LV) systolic function and abnormal heart muscle by late post-gadolinium imaging (LGE) Exclusion Criteria: * renal insufficiency (GFR \<40 mL/min/m2) * non-MR compatible implants (e.g. neurostimulator, AICD) * severe claustrophobia * allergy to gadolinium contrast * prior use of or known allergy to epleronone * use of potassium-sparing diuretics * serum potassium level of \>5.0 mmol/LMALE2024-10-18T00:00:002012-01-262012-01-262016-10-042012-01-302016-11-082012-022016-062016-06trueDuchenne muscular dystrophy (DMD), the most common muscular dystrophy, leads to skeletal and cardiac muscle damage. Treatment of pulmonary complications has improved survival; however, heart muscle disease or cardiomyopathy has emerged as a leading cause of death, typically by the third decade. Although myocardial changes begin early, clinically significant heart disease is rarely detected in the first decade of life. Consequently, DMD cardiomyopathy frequently goes unrecognized (and untreated) until advanced (and irreversible). Current DMD cardiovascular care guidelines recommend beta-blockers and angiotensin converting enzyme inhibitors (ACEIs) when decreased ejection fraction (EF) is noted by echocardiography (echo); however, this strategy has not significantly improved outcomes. Our team has recently made a breakthrough in a mouse study, showing in a model that causes the same heart muscle disease in humans with DMD adding an old medicine traditionally used for high blood pressure and late-stage heart failure can actually prevent heart muscle damage. Because of this drug's proven safety in both children and adults, it is ready to be studied immediately in an RCT in patients with DMD to hopefully show, as we did in mice, that we can prevent the devastating consequences of heart muscle damage.Duchenne Muscular DystrophyNA4212-month Change in Myocardial Straina sensitive measurement of heart function using cardiac MRI, change was 12 months minus baseline.baseline and 12 monthsFalse7FalseFalseFalseFalse NCT00110669CNMC0601Cooperative International Neuromuscular Research GroupNETWORKHigh-dose Prednisone in Duchenne Muscular Dystrophy2011-10COMPLETEDThis study will help to determine whether a high-dose weekly course of prednisone therapy is safer than and at least as effective as daily dose therapy for people with Duchenne muscular dystrophy (DMD). Boys who are enrolled in this study should not have taken carnitine, other amino acids, creatine, glutamine, Coenzyme Q10 or any herbal medicines within the last three months. There will be a two-visit screening to take place in one week to ensure a reproducible manual muscle test. The subject will then be randomized and put into either the daily or weekly regimen. The duration of the study is twelve 28-day treatment cycles (approximately 12 months) with follow-up visits at month one, three and then every three months.INTERVENTIONALInclusion Criteria: * 4 to 10 years of age * Ambulant * Confirmed DMD Diagnosis * Steroid naive * Evidence of muscle weakness by MRC score or clinical functional evaluation * Ability to provide reproducible QMT bicep score Exclusion Criteria: * History of significant concomitant illness or significant impairment of renal or hepatic function, or other contraindication to steroid therapy * Symptomatic DMD carrier * Positive PPD * Lack of prior exposure to chickenpox or immunization * Use of carnitine, glutamine, Coenzyme Q10, other amino acids or any herbal medications within the last 3 months * History of symptomatic cardiomyopathy * Prior attainment of quota for the age group in which the patient belongsMALE2024-10-18T00:00:002005-05-122005-05-122011-10-262005-05-132011-10-272004-012007-122008-02trueThis study will help to determine whether a high-dose weekly course of prednisone therapy is safer than and at least as effective as daily dose therapy for people with Duchenne muscular dystrophy (DMD). Boys who are enrolled in this study should not have taken carnitine, other amino acids, creatine, glutamine, Coenzyme Q10 or any herbal medicines within the last three months. There will be a two-visit screening to take place in one week to ensure a reproducible manual muscle test. The subject will then be randomized and put into either the daily or weekly regimen. The duration of the study is twelve 28-day treatment cycles (approximately 12 months) with follow-up visits at month one, three and then every three months.Duchenne Muscular DystrophyPHASE364Quantitative muscle strength will be measured using the CINRG Quantitative Measurement System (CQMS)February 2008Primary strength endpoints will be quantitative myometry (QMT) scores of the upper and lower extremities, consisting of paired flexor/extensor groups.February 2008Secondary strength endpoints will include individual QMT scores of elbow and knee flexors and extensors and hand grip, manual muscle testing scores, which will be measured using the Medical Research Council's (MRC) muscle strength scoring method.February 2008Side-effect profiles will assessed by monitoring side-effects, including differences in growth (height and weight), calculated weight/height ratio, bone density, cataract formation, blood glucose, blood pressure and behavioral changes.February 2008False410TrueFalseFalseFalse NCT04120168VICTORIATurkish Society of Pediatric Gastroenterology, Hepatology and NutritionOTHERStudy Determining the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease2022-05COMPLETEDThis is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: * Alanine Transaminase (ALT) * Aspartate Transaminase (AST) * Gamma Glutamyl Transferase (GGT) * Creatine Phosphokinase (CPK) * In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.OBSERVATIONALInclusion Criteria: * 3 months -18 years old boys and girls * Serum transaminase levels (serum ALT and / or AST levels\> 1.52 upper limit of normal (ULN)) for at least 3 months * The willingness of the patient and / or legal representative to sign the written consent form Exclusion Criteria: * Patients less than 3 months * Patients with a known history of liver disease * Patients with a known history of muscle disease * Patients with a known history of rheumatologic disease * Patients with clinical history or physical examination findings that support the possibility of liver disease (Jaundice, variceal bleeding, hepatomegaly, splenomegaly, ascites) * ICU patients * Patients with known congenital anomalies * Patients with organ failure * Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levelsALL2024-10-18T00:00:002019-10-072019-10-082022-10-212019-10-092022-10-242019-04-012022-01-302022-10-21falseFalseFalseThis is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study. Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected: * Alanine Transaminase (ALT) * Aspartate Transaminase (AST) * Gamma Glutamyl Transferase (GGT) * Creatine Phosphokinase (CPK) * In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.Duchenne Muscular Dystrophy;Pompe Disease (Late-onset)590Frequency of Duchenne muscular dystrophin in boys and adolescentsThe endpoints of the study were to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.1 yearFalse318FalseFalseFalseFalse NCT06539169XC-FLW-2024xCuresINDUSTRYFLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases2024-08RECRUITINGFLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.OBSERVATIONALInclusion Criteria: * Any person with a known or suspected rare disease, defined by their prevalence of fewer than 200,000 individuals nationwide. Diseases include but are not limited to: Alpha- or Beta- Thalassemia Amyloidosis Amyotrophic Lateral Sclerosis (ALS) Creutzfeldt-Jakob disease (CJD) Cystic Fibrosis (CF) Duchenne Muscular Dystrophy (DMD) Early-onset Alzheimer's Disease Ehlers-Danlos Syndrome (EDS) Huntington's Disease (HD) Gaucher Disease GM1 Gangliosidosis Myasthenia Gravis Pompe Disease Sickle Cell Disease Transthyretin Amyloid Cardiomyopathy (ATTR-CM) Transthyretin Amyloid Polyneuropathy (ATTR-PN) - Patients or their legally-authorized representative must be willing and able to provide informed consent (and assent, if applicable). Deceased persons may participate via consent of their legally-authorized representative in accordance with applicable Federal and state laws Exclusion Criteria: * Patient or LAR is unable to provide informed consent. * Patient resides in a country other than the United States and is unable to provide access to medical records.ALL2024-10-18T00:00:002024-08-012024-08-012024-08-122024-08-062024-08-142024-06-102026-06-102026-06-10FalseFalseFLOWER is a completely virtual, nationwide, real-world observational study to collect, annotate, standardize, and report clinical data for rare diseases. Patients participate in the study by electronic consent (eConsent) and sign a medical records release to permit data collection. Medical records are accessed from institutions directly via eFax or paper fax, online from patient electronic medical record (EMR) portals, direct from DNA/RNA sequencing and molecular profiling vendors, and via electronic health information exchanges. Patients and their treating physicians may also optionally provide medical records. Medical records are received in or converted to electronic/digitized formats (CCDA, FHIR, PDF), sorted by medical record type (clinic visit, in-patient hospital, out-patient clinic, infusion and out-patient pharmacies, etc.) and made machine-readable to support data annotation, full text searches, and natural language processing (NLP) algorithms to further facilitate feature identification.Alpha-Thalassemia;Beta-Thalassemia;Amyloidosis;Amyotrophic Lateral Sclerosis;Creutzfeld-Jakob Disease;Cystic Fibrosis;Duchenne Muscular Dystrophy;Early-Onset Alzheimer Disease;Ehlers-Danlos Syndrome;Huntington Disease;Gaucher Disease;GM1 Gangliosidosis;Myasthenia Gravis;Pompe Disease;Sickle Cell Disease;Transthyretin Amyloid Cardiomyopathy;Rare Diseases1000Progression Free Survival (PFS)5 YearsOverall Survival (OS)5 YearsFalseFalseFalseFalseFalse NCT02413450NA_00085175Johns Hopkins UniversityOTHERDerivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias2024-01ENROLLING_BY_INVITATIONHuman induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.OBSERVATIONALInclusion Criteria: * All patients and family members 18 years of age or older with inherited cardiac arrhythmias including LQTS, Brugada Syndrome (BrS), cathecholaminergic polymorphic ventricular tachycardia (CPVT) or early repolarization syndrome (ERS) are eligible for enrollment. * All enrolled patients will have undergone clinically indicated genetic testing. Exclusion Criteria: * Age \<18 years * \>85 years * pregnant women * life-limiting co-morbidities * immunocompromiseALL2024-10-18T00:00:002015-04-062015-04-092024-01-042015-04-102024-01-082013-082028-082029-08falseHuman induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.Inherited Cardiac Arrythmias;Long QT Syndrome (LQTS);Brugada Syndrome (BrS);Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT);Early Repolarization Syndrome (ERS);Arrhythmogenic Cardiomyopathy (AC, ARVD/C);Hypertrophic Cardiomyopathy (HCM);Dilated Cardiomyopathy (DCM);Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy);Normal Control Subjects100•Production of cardiomyocytes and engineered tissues from hiPSC-derived cardiomyocytes to be used in mechanistic studies of disease and testing of therapeutic interventions.Whole Blood drawn on day of informed consent obtained.10 yearsTrue1885FalseFalseFalseFalse NCT05559710GO 22/750Hacettepe UniversityOTHERMotor Imagery in Duchenne Muscular Dystrophy2023-11COMPLETEDMotor imagery (MI) can be defined as a dynamic process in which the person is mentally stimulated without performing the given motor movement. Studies of imagery; demonstrated that it alters a person's ability to learn, performance skills, and important cognitive skills (self-efficacy, self-confidence, effort, motivation). In recent years, it has been shown that motor imagery techniques are used for therapeutic purposes as a current neurorehabilitation approach and that imagery can have positive effects on improving motor activity and functions. However, it has been reported that the biggest difficulty in the use of imagery techniques is the inability to determine to what extent the individual can perform mental representation of movements. For this reason, it is thought that it is necessary to evaluate the motor imagery ability first in order to identify the patients who are suitable for motor imagery training. The Kinesthetic and Visual Imagery Questionnaire (KVIQ) is a motor imagery questionnaire developed for individuals with limited mobility for different reasons. The questionnaire assesses both the visual and kinesthetic dimensions of motor imagery. of the KVIQ; It has also been shown in the literature that it is a valid and reliable questionnaire that enables the appropriate evaluation of motor imagery in different neurological disease groups such as Multiple Sclerosis, Parkinson's disease, and stroke. However, the literature When examined, no evidence was found about the motor imagery ability of individuals with Duchenne muscular dystrophy (DMD). It is foreseen that KVIQ will be especially suitable for patients with DMD of different functional levels, since all its items have been developed to be applied to people with limited physical mobility or physically disabled people in a sitting position. Therefore, in this study, it is aimed to investigate the validity and reliability of the Kinesthetic and Visual Imagery Questionnaire for patients with DMD.OBSERVATIONALInclusion Criteria: * Having a diagnosis of DMD confirmed by a genetic test result, * Be between the ages of 7-18, * More than 27 (27-35 indicates normal cognitive level) from the Modified Mini Mental Test of children aged 7-15 years to be able to cooperate with the physiotherapist's instructions; Children between the ages of 16-18 get more than 24 points from the Mini Mental State Test (24-30 points indicate no cognitive impairment, 20-23 indicates mild, 10-19 moderate, and below 9 indicates severe cognitive impairment), * Ability to sit for at least 30 minutes with/without support, * Volunteering to participate in the study. Exclusion Criteria: * Insufficient cooperation with the physiotherapist, * Any injury and/or surgery to the lower/upper extremities in the last 6 months * Having any additional neurological/orthopedic problems other than DMD.MALE2024-10-18T00:00:002022-09-262022-09-262023-11-292022-09-292023-12-052022-06-202023-06-192023-09-25falseFalseFalseMotor imagery (MI) can be defined as a dynamic process in which the person is mentally stimulated without performing the given motor movement. Studies of imagery; demonstrated that it alters a person's ability to learn, performance skills, and important cognitive skills (self-efficacy, self-confidence, effort, motivation). In recent years, it has been shown that motor imagery techniques are used for therapeutic purposes as a current neurorehabilitation approach and that imagery can have positive effects on improving motor activity and functions. However, it has been reported that the biggest difficulty in the use of imagery techniques is the inability to determine to what extent the individual can perform mental representation of movements. For this reason, it is thought that it is necessary to evaluate the motor imagery ability first in order to identify the patients who are suitable for motor imagery training. The Kinesthetic and Visual Imagery Questionnaire (KVIQ) is a motor imagery questionnaire developed for individuals with limited mobility for different reasons. The questionnaire assesses both the visual and kinesthetic dimensions of motor imagery. of the KVIQ; It has also been shown in the literature that it is a valid and reliable questionnaire that enables the appropriate evaluation of motor imagery in different neurological disease groups such as Multiple Sclerosis, Parkinson's disease, and stroke. However, the literature When examined, no evidence was found about the motor imagery ability of individuals with Duchenne muscular dystrophy (DMD). It is foreseen that KVIQ will be especially suitable for patients with DMD of different functional levels, since all its items have been developed to be applied to people with limited physical mobility or physically disabled people in a sitting position. Therefore, in this study, it is aimed to investigate the validity and reliability of the Kinesthetic and Visual Imagery Questionnaire for patients with DMD.Duchenne Muscular Dystrophy58Kinesthetic and Visual Imagery Questionnaire (KVIQ)he Kinesthetic and Visual Imagery Questionnaire is a representative tool to assess motor imagery ability. The questionnaire can be used to assess healthy individuals, as well as those with physical disabilities. It allows easy evaluation of motor imagery ability in a sitting position with single joint motions. Furthermore, the questionnaire assesses both visual and kinesthetic dimensions of motor imagery. The questionnaire is not self-administered, rather it is administered by a trained assessor. It assesses the vividness of each dimension of motor imagery (clarity of the image/intensity of sensation) on a 5-point ordinal scale.The long version comprises 20 items (10 movements for each scale) and the short version includes 10 items (5 movements for each scale). Higher scores mean a better outcome.15 minutesMovement Imagery Questionnaire-Children(MIQ-C)Visual and Kinesthetic motor imagery ability will be evaluated with MIQ-C. Includes 12 items in total. The individual is asked to visualize four different movements from three different imagery perspectives. The clearness of the imagination is scored using a Likert-type scale between 1 (very difficult to feel) -7 (very easy to feel)20 minutesModified Mini Mental Test (MMMT)This test; orientation, memory (recording), attention and calculation, recall and language subtests. The highest score that can be obtained from MMMT is 35. The application time of the test is approximately 5-10 minutes. It has been reported that this test is a suitable tool for the examination of mental functions from the age of 4 and can be easily included in routine neurological examinations of children. Children between the ages of 7 and 15 who get 27 points below the MMMT will be excluded from the study. Children's total score will be recorded5 minutesMini Mental State TestA mini mental state test will be used to evaluate the mental state of children aged 16-18. Test; It evaluates verbal responses including attention, orientation, memory and language skills, ability to obey verbal and written orders, write spontaneous sentences, and copy a complex drawing. The maximum score that can be obtained from the test is 30, the minimum score is 0.5 minutesMontreal Cognitive Assessment Scale (MoCA)In this test, which was developed as a rapid screening test for mild cognitive disorders; 8 different cognitive functions are evaluated, including attention, concentration, executive functions, memory, language, visual construction skills, abstract thinking, calculation and orientation. The application time of MoCA, which evaluates abstract thinking in addition to the other test, is approximately 10 minutes. The minimum score that can be taken from the test is 0 and the maximum score is 30. Accordingly, a score of 21 and above indicates normal cognitive functions.10 minutesTrue718FalseFalseFalseFalse NCT0039010403-12-205Boston Children's HospitalOTHERMolecular Analysis of Patients With Neuromuscular Disease2023-04RECRUITINGThe purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.OBSERVATIONALThe samples used in this study will be derived from individuals at risk for, or suffering from, neuromuscular disease, generally resulting in clinical weakness of one or more muscle groups and their family members. Inclusion criteria: 1. having a clinical and/or pathological diagnosis of a muscular dystrophy 2. being the first degree relative of someone with such a diagnosis 3. having had a muscle biopsy if diagnosed with a neuromuscular disease 4. willingness to provide a skin biopsy for research only Exclusion Criteria: 1. not having a neuromuscular diagnosis in you or a family member 2. not wishing to participate 3. being incapable of giving consent and not having a legal guardian willing or able to do soALL2024-10-18T00:00:002006-10-172006-10-172023-04-202006-10-192023-04-242002-012026-12-312027-12-31trueFalseFalseThe purpose of this study is to identify new genes responsible for neuromuscular disorders and study muscle tissue of patient with known neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.Neuromuscular; Disorder, Hereditary;Duchenne/Becker Muscular Dystrophy;Limb-girdle Muscular Dystrophy1000False1100FalseFalseFalseFalse NCT06186310GaziosmanpasaTREH-FTR-CU-01Gaziosmanpasa Research and Education HospitalOTHER_GOVEffectiveness of Aquatic Therapy in Children With Duchenne and Becker Muscular Dystrophy2024-03COMPLETEDThe purpose of this study is ; to evaluate the effects of aquatic therapy applied in addition to conventional physical therapy on balance, functionality and quality of life in children with Duchenne and Becker muscular dystrophy.INTERVENTIONALInclusion Criteria: * Diagnosed with Duchenne Muscular Dystrophy or Becker Muscular Dystrophy by a neurologist * Between the ages of 5-18, with ongoing ambulation * Co-operating with the physiotherapist's practices Exclusion Criteria: * Those who will not be able to perform the evaluation parameters * Have a serious systemic disease that may interfere with exercise * Injury and/or surgery in the last 6 months * Receive gene therapy * In the presence of contraindications to aquatic therapy such as excessive fear of water, behavioral problems, shortness of breath at rest, infection, incontinence, known chlorine allergy, open wound, acute systemic disease, epilepsy, tracheotomy, permanent drain, immunodeficiencyALL2024-10-18T00:00:002023-12-152023-12-152024-03-102024-01-022024-03-122023-11-052024-02-232024-02-29falseFalseFalseThe purpose of this study is ; to evaluate the effects of aquatic therapy applied in addition to conventional physical therapy on balance, functionality and quality of life in children with Duchenne and Becker muscular dystrophy.Duchenne or Becker Muscular DystrophyNA16Pediatric Berg Balance ScaleThe Pediatric Balance Scale is a modified version of the Berg Balance Scale that is used to assess functional balance skills in school-aged children. The scale consists of 14 items: sitting to standing,standing to sitting,transfers,standing unsupported,sitting unsupported,standing with eyes closed,standing with feet together,standing with one foot in front,standing on one foot,turning 360 degrees,turning to look behind,retrieving object from floor,placing alternate foot on stool,reaching forward with outstretched arm. That are scored from 0 points (lowest function) to 4 points (highest function) with a maximum score of 56 points.five weeksTimed Performance Tests (walking 10 m, climbing 4 steps and descending 4 steps)It will be used to evaluate the functional performance of children against time. Time to climb a 4-step staircase: They will be asked to climb a 4-step stair platform in the same way they climb in daily life Descending a 4-step ladder: They will be asked to descend a 4-step ladder platform in the same way they descend in daily life. Time to walk a distance of 10 meters: Children are asked to walk a predetermined distance of 10 meters at the same pace they walk in their daily lives.Results will be recorded.five weeksThe Pediatric Quality of Life Inventory (PedsQL)-Neuromuscular Module (PedsQL-3.0The PedsQL 3.0 Neuromuscular Module scale was prepared in child self-report and parent report formats for children aged 5-18 years.The scale consists of a total of 25 items under 3 categories: symptoms related to neuromuscular disease, communication, and family resources.Items are scored on a Likert scale from 0 (never a problem) to 4 (always a problem).Higher scores on the module indicate better health-related quality of lifefive weeksFalse518FalseFalseFalseFalse NCT05982119ActiLiege NextCentre Hospitalier Universitaire de LiegeOTHERAssessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study2024-05RECRUITINGThe objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.INTERVENTIONALInclusion criteria * For the patients: * Genetically confirmed diagnosis of DMD, FSHD, DM1, CMT or FKRP mutations or confirmed CNM based on muscle biopsy. * FSHD, DM1, CMT and CNM patients should be ambulant or in transition. * DM1 and CMT patients should present sensori-motor signs on physical examination. * Under the age of 20 years for patients with DMD, CNM or between the ages of 5 and 80 years for patients with FSHD, CMT and DM1. * More than 2 years old for patients with FKRP mutations * Non-ambulant DMD patients must be able to remain seated in an arm- or a wheelchair for at least one hour. * Patients with DMD treated with corticosteroids for at least 6 months or initiated corticosteroid at V0 (except for patients under 4). * Signed informed consent form by patient himself or, in case of minor patients, signed informed consent form by patient's parents or legal guardians. * For the control subjects: * Ambulant boys and girls under 20 years old * Signed informed consent form by patient him/herself or, in case of minor patients, signed informed consent form by patient's parents or legal guardians. Exclusion Criteria: * For the patients: * Patients with extreme cognitive disorders that limit their understanding of the exercises to be performed. * Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs (for ambulant patients). * A concomitant chronic or acute neurological, endocrine, infectious, allergic, or inflammatory pathology within the 3-week period immediately prior to inclusion. * Patients who are participating in an interventional clinical trial. * DMD patients in transition who are not on corticosteroids. * For the control subjects: * Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs. * Elite athletes (at the national level). * A chronic or acute muscular, neurological, infectious, or inflammatory pathology within the 3-week period immediately prior to inclusion. * An orthopedic, neuromuscular, or neurological pathology that affects the quality of the subject's walking gait.ALL2024-10-18T00:00:002021-07-202023-08-012024-05-292023-08-082024-05-302020-07-102026-032026-03FalseFalseThe objective of the ActiLiège Next study is to collect longitudinal data from patients and control subjects using a wearable magneto-inertial device. By collecting natural history data in various neuromuscular disorders (Duchenne Muscular Dystrophy, Fascioscapulohumeral Muscular Dystrophy, Myotonic Dystrophy 1, Charcot-Marie-Tooth, Centronuclear Myopathy, Congenital Muscular Dystrophy), we aim to validate digital outcome measures to continuously assess motor function in real-life.Duchenne Muscular Dystrophy;Fascioscapulohumeral Muscular Dystrophy;Myotonic Dystrophy 1;Charcot-Marie-Tooth;Centronuclear Myopathy;Congenital Muscular DystrophyNA300Stride velocityStride velocity obtained with a magneto-inertial sensor (Actimyo°) in real-life (meter per second).through study completion (3 year)Stride lengthStride length obtained with a magneto-inertial sensor (Actimyo°) in real-life (meter).through study completion (3 year)Stairs numberTotal number of strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-lifethrough study completion (3 year)Stairs speedVertical speed during strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-lifethrough study completion (3 year)Stairs heightHeight of the strides in stairs obtained with a magneto-inertial sensor (Actimyo°) in real-lifethrough study completion (3 year)True1100TrueFalseFalseFalse NCT02592941MP-104-CL-037PTC TherapeuticsINDUSTRYDeflazacort Expanded Access Program for Children, Adolescents and Adults With Duchenne Muscular Dystrophy2018-02APPROVED_FOR_MARKETINGThe expanded access program will provide access to treatment with deflazacort in children, adolescent, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study examining the efficacy of deflazacort while a new drug application is under preparation and review. Enrollment is open to all eligible patients.EXPANDED_ACCESSMain Inclusion Criteria: * Confirmed diagnosis of Duchenne muscular dystrophy * The patient is ≥ 5 years old * Current on all childhood vaccinations including the chicken pox vaccine Main Exclusion Criteria: * History or current medication condition that could affect safety or poses an additional risk * Hypersensitivity or allergic reaction to steroids or their formulationsALL2024-10-18T00:00:002015-10-292015-10-292018-02-262015-10-302018-02-28The expanded access program will provide access to treatment with deflazacort in children, adolescent, and adult patients with DMD in the U.S. who are ineligible, unable, or otherwise unwilling to enroll in a clinical study examining the efficacy of deflazacort while a new drug application is under preparation and review. Enrollment is open to all eligible patients.Duchenne Muscular DystrophyFalseFalseFalseFalse NCT02814019SNT-III-012Santhera PharmaceuticalsINDUSTRYA Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids2021-11TERMINATEDThe purpose of the study is to assess the efficacy of idebenone in delaying the loss of respiratory function in patients with DMD receiving concomitant glucocorticoid steroidsINTERVENTIONALInclusion Criteria: 1. Male patients with a 35% ≤ FVC ≤ 80% of predicted value at Screening and at Baseline and who, in the opinion of the investigator are in the respiratory function decline phase. 2. Minimum 10 years old at Screening. 3. Signed and dated Informed Consent Form. 4. Documented diagnosis of DMD (severe dystrophinopathy) and clinical features consistent of typical DMD at diagnosis (i.e. documented delayed motor skills and muscle weakness by age 5 years). DMD should be confirmed by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or \<5% of normal) on Western blot or immunostaining. 5. Chronic use of systemic glucocorticoid steroids for DMD related conditions continuously for at least 12 months prior to Baseline without any dose adjustments on a mg/kg basis in the last 6 months (only dose adjustments determined by weight changes are allowed). 6. Ability to provide reliable FVC values at Screening and Baseline, and reproducible within 15% (relative change) at Baseline compared to Screening. 7. Patients assessed by the Investigator as willing and able to comply with the requirements of the study, possess the required cognitive abilities and are able to swallow study medication. 8. Patients who prior to Screening have been immunized with 23-valent pneumococcal polysaccharide vaccine or any other pneumococcal polysaccharide vaccine as per national recommendations, as well as annually immunized with inactivated influenza vaccine. Exclusion Criteria: 1. Symptomatic heart failure (defined as patients with structural heart disease, dyspnea, fatigue and impaired tolerance to exercise; Stage C by the ACCF/AHA guideline or NYHA Classes III-IV) and/or symptomatic ventricular arrhythmias. 2. Ongoing participation in any other therapeutic trial and/or intake of any investigational drug within 90 days prior to Baseline (only exception allowed is use of Deflazacort in the US as part of the Expanded Access Program, or any approved corticosteroid product in trial for regimen optimization, for which the patient met the inclusion criterion 5). 3. Ongoing exon-skipping therapy or read-through gene therapy for DMD; previous exon-skipping or read-through gene therapy is allowed if the stop date was more than 6 months prior to Screening. 4. Planned or expected spinal fusion surgery during the study period (as judged by the Investigator; i.e. due to rapidly progressing scoliosis), previous spinal fusion surgery is allowed if it took place more than 6 months prior to Screening. 5. Asthma, bronchitis/COPD, bronchiectasis, emphysema, pneumonia or presence of any other non-DMD respiratory illness that affects respiratory function. 6. Chronic use of beta2-agonists or any use of other bronchodilating/bronchoconstricting medication (inhaled steroids, sympathomimetics, anticholinergics, antihistamines); chronic use is defined as a daily intake for more than 14 days. 7. Any bronchopulmonary illness that required treatment with antibiotics within 3 months prior to Screening. 8. Moderate or severe hepatic impairment (use as guidance Child-Pugh class B \[7 to 9 points\] or Child-Pugh class C \[10 to 15 points\] - see Appendix B) or severe renal impairment (eGFR \<30 mL/min/1.73 m2). 9. Prior or ongoing medical condition or laboratory abnormality that in the Investigator's opinion may put the patient at significant risk may confound the study results or may interfere significantly with the patient's participation in the study. 10. Relevant history of or current drug or alcohol abuse, or use of any tobacco or marijuana products/smoking. 11. Known individual hypersensitivity to idebenone or to any of the ingredients or excipients of the study medication. 12. Daytime ventilator assistance (defined as use of any assisted ventilation while awake). Note: Patients who suffer from a severe, unstable condition including (but not limited to) cancer, auto-immune diseases, hematological diseases, metabolic disorders or immunodeficiencies, and who are at risk of an aggravation unrelated to the study condition, can only be included in the study if accepted in writing by the Sponsor's Senior Clinical Research Physician.MALE2024-10-18T00:00:002016-06-172016-06-222021-11-242016-06-272021-12-032016-092020-12-012020-12-01The purpose of the study is to assess the efficacy of idebenone in delaying the loss of respiratory function in patients with DMD receiving concomitant glucocorticoid steroidsDuchenne Muscular Dystrophy (DMD)PHASE3255Change From Baseline in Forced Vital Capacity percent predicted (FVC %p) at Week 78Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by changes in FVC %p from Baseline to Week 78 using hospital based spirometry.78 weeksChange From Baseline in Percent Predicted Peak Expiratory Flow (PEF %p) at Week 78Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by: •The change from Baseline to Week 78 in PEF %p assessed by hospital-based spirometry measurements78 weeksChange From Baseline in Forced Vital Capacity (FVC) at Week 78Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by: •The time to first 10% decline in FVC (L) during the 78-week treatment period, assessed by hospital-based spirometry measurements78 weeksChange from Baseline in Inspiratory Flow Reserve (IFR) at Week 78Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by: •The change from Baseline to Week 78 in IFR assessed by hospital-based spirometry measurements78 weeksFalse10FalseFalseFalseFalse NCT01254019114044GlaxoSmithKlineINDUSTRYA Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy2017-09COMPLETEDThe purpose of this study is to determine whether GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.INTERVENTIONALInclusion Criteria: * Ambulant subjects with Duchenne muscular dystrophy resulting from a mutation/deletion within the DMD gene, confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by GSK2402968-induced DMD exon 51 skipping. * Males, aged at least 5 years, and with life expectancy of at least 1 year * Able to complete 6MWD test with minimal distance of at least 75m at each predrug visit. In addition, results of 6MWD must be within 20% of each other at each pre-drug visit * Receiving glucocorticoids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly for the duration of the study * QTc \<450msec (based on single or average QTc value of triplicate ECGs obtained over a brief recording period), or \<480 msec for subjects with Bundle Branch Block. Note: QTc may be either QTcB or QTcF, and machine read or manual overread. * Subjects, where appropriate, must be willing to use adequate contraception (condoms or abstinence) for the duration of the study and for at least 5 months after the last dose of study drug. * Willing and able to comply with all protocol requirements and procedures, * Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations). * French subjects: In France, a subject will be eligible for inclusion in this study only if either affiliated to or a beneficiary of a social security category. Exclusion Criteria: * Any additional missing exon for DMD that cannot be treated with GSK2402968 * Current or history of liver or renal disease or impairment * Acute illness within 4 weeks of the first anticipated administration of study medication which may interfere with study assessments * Use of anticoagulants, antithrombotics or antiplatelet agents, previous treatment with investigational drugs, within 6 months of the first administration of study medication; and idebenone or other forms of Coenzyme Q10 within 1 month of the first administration of study medication. * Current or anticipated participation in any investigational clinical studies * Positive hepatitis B surface antigen, hepatitis C antibody test (if verified via RIBA or PCA testing), or human immunodeficiency virus (HIV) test at screening, * Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \<45% at Screening, the investigator should discuss inclusion of subject in the study with the medical monitor, * Children in Care. The definition of a Child in Care is a child who has been placed under the control or protection of an agency, organisation, institution or entity by the courts, the government or a government body, acting in accordance with powers conferred on them by law or regulation. The definition of a child in care can include a child cared for by foster parents or living in a care home or institution, provided that the arrangement falls within the definition above. The definition of a child in care does not include a child who is adopted or has an appointed legal guardian.MALE2024-10-18T00:00:002010-10-212010-12-022018-08-132010-12-062019-01-282010-12-022013-06-282013-06-28trueThe purpose of this study is to determine whether GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.Muscular DystrophiesPHASE3186Change From Baseline in Muscle Function Using the 6 Minute Walking Distance (6MWD) Test Assessed at Week 48During the 6MWD, participants were asked to walk, at their own preferred speed, up and down a fixed distance until they were told to stop after 6 minutes. The participants were warned of the time and were told that they may stop earlier if they feel unable to continue. The total distance walked within 6 minutes (or until the participant stopped in case of early termination of the test), the 6MWD, was recorded in meters as well as any falls. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in the Linearized North Star Ambulatory Assessment (NSAA) Total Score at Week 48The NSAA is a functional scale devised from the Hammersmith Scale of Motor Ability specifically for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was achieved by adding the responses of all activities, ranging from 0 to 34, with a score of 34 implying normal function and lower score implying more severe symptoms. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48. A positive change from Baseline indicated improvement.Baseline (Day 0) and Week 48Change From Baseline in the 4 Stair Climb (Ascent) Velocity at Week 48The participant was asked to ascend four steps. Time was recorded with a stopwatch from the initiation of movement until the participant stood on the fourth step. A flight of steps with handrail was used for this test. Number of stairs ascended per second was calculated as 4 divided by the time to ascend 4 complete stairs. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in the 10-meter Walk/Run Velocity at Week 48The participant was instructed to perform the test bare foot. No aids or orthoses were allowed. The participant was asked to traverse a marked 10-meter measured walkway as quickly as he safely could. Time was recorded to one tenth of a second with a stop watch from when his first foot crossed the start line until when the second foot crossed the finish line. If the wall was touched, it was noted how often. Care was taken to ensure that the participant was safe when completing this test. The assessor walked nearby to provide emergency help if needed, but did not support or provide manual assistance to the participant in any way. If the participant could not complete the 10-meter walk, the total distance was recorded. 10 minute walk/run speed was equal to 10 divided by time taken to complete 10 minute walk/run. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in the Timed Function Test Rise From Floor at Week 48The participant stood from a standardized supine position as quickly as possible when told to go. Time was recorded with a stopwatch from the initiation of movement until the assumption of upright standing. No aids or orthoses are allowed. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in the 4 Stair Climb (Descent) Velocity at Week 48The participant was asked to descend four steps. Time was recorded with a stopwatch from the initiation of movement until the participant stood on the fourth step. A flight of steps with handrail was used for this test. Number of stairs descended per second was calculated as 4 divided by the time to descend 4 complete stairs. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in Muscle Strength (Total Score) at Week 48Muscle strength was recorded by handheld myometry using a micro force evaluation testing 2 (FET2) myometer. Upper and lower limb proximal muscles were evaluated including knee flexors, knee extensors, elbow flexors, elbow extensors, shoulder abductors and hip flexors. The muscle strength total score (pounds) was the sum of the 12 individual muscle strength tests. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Kaplan-Meier Estimates for Time to Loss of AmbulationAll participants were ambulant when entered into the study; however they could have become non-ambulant at some time during the study. The date was recorded and the variable time to loss of ambulation was calculated as: time to loss of ambulation = date of loss of ambulation - date of first dose. Median and interquartile range i.e. 1st and 3rd quartile is presented.Week 48Number of Participants Who Experienced Accidental Falls During 6MWD Assessments at Week 48The number of accidental falls occurring during the 6MWD were counted. Data has been presented for the number of participants who experienced accidental falls (from 0 to 1) during the 6MWD assessment.Week 48Change From Baseline in Creatine Kinase Serum Concentrations at Week 48Creatine kinase is a muscle-specific enzyme; its level in serum is considered to reflect the extent of muscle damage. In the blood samples drawn to this purpose, the serum level of creatine kinase were measured. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Change From Baseline in Pulmonary Function Test Forced Vital Capacity (FVC) and Forced Expiratory Volume in 1 Second (FEV1) at Week 48The FEV1 is the volume of air forcefully exhaled in 1 second, whereas the FVC is the volume of air that can be maximally forcefully exhaled using non-invasive spirometry was conducted to determine actual and percentage values for FVC and FEV1. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Number of Participants With Identified Mutation: DMD Exon 51 Skip (Upon Muscle Biopsies) at Week 48Biopsies were taken from their tibialis anterior muscle and few were taken from quadriceps. Total muscle ribonucleic acid (RNA) was isolated from muscle tissue sections and was analyzed by reverse transcriptase polymer chain reaction (RT-PCR). RT-PCR analysis focused on the area flanking the targeted exon 51 was performed to detect specific exon 51 skipping in muscle. Depending on the participants mutation different sets of DMD-gene specific RT and PCR primers were used. Sequence analysis was performed on isolated PCR products to confirm specific exon 51 skip band detection.Week 48Change From Baseline in Pediatric Quality of Life (PedsQL) Total Score at Week 48PedsQL version 3.0 scale is used to measure pediatric quality of life in children with neuromuscular disorders. The 25-item PedsQL encompasses 3 scales About My/My Childs Neuromuscular Disease (17 items), Communication (3 items), About Our Family Resources (5 items). A 5-point response scale is utilized (where 0=never a problem; 4=almost always a problem). It was assessed both by child and parent. PedsQL total score was calculated by reverse scoring individual items and linearly transforming the score to a 0-100 scale, where higher scores indicated better health-related quality of life. To reverse score individual items, the 0-4 scale items were transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, and 4=0. Total score was then calculated as sum of items divided by number of items answered. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48. A positive change from Baseline indicated improvement.Baseline (Day 0) and Week 48Change From Baseline in Pulmonary Function Test Peak Cough Flow (PCF) and Peak Flow (PF) at Week 48The PF also called peak expiratory flow rate (PEFR) is a participants maximum speed of expiration, as measured with a peak flow meter, a small, hand-held device used to monitor a participants ability to breathe out air. PCF was measured for participants wearing a nose clip and performing a maximum cough into a pocket peak flow meter. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Day 0) and Week 48Number of Participants Who Showed Improvement on Clinician Global Impression of Improvement (CGI-I) Scale at Week 48The CGI-I is scored based on the clinician's reflection of the participant's current overall clinical condition compared to the overall clinical condition just prior to the initiation of medication use (i.e., the period prior to Randomization). The CGI-I is rated without regard to the clinician's belief that any clinical changes are or are not due to medication and without consideration of the etiology of the symptoms. The CGI-I is measured on a 7-point Likert scale (where 1=very much improved, 2=much improved, 3=minimally improved, 4=no change, 5=minimally worse, 6=much worse, 7=very much worse). The score ranged from 1-7, where lower score indicated more improvement and higher score indicated less improvement.Week 48Change From Baseline in Health Utilities Index (HUI) Scores at Week 48A 15-item HUI questionnaire assessed Health-related quality of life (HRQoL). Responses from 15-item HUI were used to quantify HRQoL according to 2 health status classification systems, HUI Mark 2 (HUI2) and HUI Mark 3 (HUI3). HUI2 assessed 7 HRQoL dimensions: sensation, mobility, emotion, cognition, self care, pain and fertility. HUI3 assessed 8 HRQoL dimensions: vision, hearing, speech, ambulation, dexterity, emotion, cognition and pain. Both HUI2 (range from -0.03 to 1.0) and HUI3 (range from -0.36 to 1.0) utility scores were calculated using algorithms incorporating community-derived preference weights. A utility value of 1.0 represented perfect health and a utility value of 0.0 represented death. Lowest possible HUI2 score was -0.03 and for HUI3 score was -0.36, where scores less than 0 represented health states considered worse than death. Change from Baseline was calculated by subtracting Baseline value from Week 48 value. A positive change from Baseline indicated improvement.Baseline (Randomization Visit, Day 0) and Week 48Number of Participants With Adverse Events (AE) and Severe Adverse Events (SAE)An AE is any untoward medical occurrence in a clinical investigation participant, temporally associated with the use of a medicinal product, whether or not considered related to the medicinal product. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease (new or exacerbated) temporally associated with the use of a medicinal product. An SAE is any untoward medical occurrence that, at any dose results in death, is life-threatening, requires hospitalization or prolongation of existing hospitalization, results in disability/incapacity, is a congenital anomaly/birth defect.Up to Follow-up (Week 68)Number of Participants With Vital Sign Data for Systolic Blood Pressure (SBP) and Diastolic Blood Pressure (DBP) and Heart Rate (HR) of Potential Clinical Concern (PCC) at Any Visit Post-BaselineBlood pressure SBP, DBP and HR were recorded after five minutes of rest in a semi-supine position. The following changes from Baseline (Day 0) in vital signs were considered to be of potential clinical concern: DBP was defined as high (increase from Baseline \>=20 and \>=40 millimeters of mercury \[mmHg\] and low (decrease from Baseline \>=20 and \>=40 mmHg), SBP high (increase from Baseline \>=10 and \>=20 mmHg and low (decrease from Baseline \>=10 and \>=20 mmHg) and for HR high (increase from Baseline \>=20 and \>=40 beats per minute \[bpm\] and low (decrease from Baseline \>=20 and \>=40 bpm). Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.Up to Week 48Number of Participants With Abnormal-clinically Significant Electrocardiogram (ECG) Findings at Any Visit Post-BaselineECG measurements were carried out and the clinical interpretation of the ECG by the investigator was recorded as normal, abnormal but not clinically significant and abnormal clinically significant. The PCC ranges include, QT interval corrected for heart rate by Bazett's formula (QTcB) or QT interval corrected for heart rate by Fridericia's formula (QTcF) \>450 milliseconds and any increase from Baseline of QTcB or QTcF. Participants were categorized as abnormal clinically significant based on the investigator's judgment and PCC ranges. Data has been presented for number of participants with abnormal clinically significant findings at any visit post-Baseline.Up to Week 48Number of Participants With Hematology Parameters of PCC at Any Visit Post-BaselineLaboratory samples were collected for analysis of hematology parameters. The PCC values for hematology parameters: hematocrit was 1.02 x Upper limit of normal (ULN), for hemoglobin was 1.03 x ULN, for lymphocytes was 0.81 x lower limit of normal (LLN), for platelet count was 0.67 x LLN and 1.57 x ULN, for total neutrophils was 0.83 x LLN, and that for white blood cell count was 0.67 x LLN and value of 1.82 x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline have been presented.Up to Week 48Number of Participants With Coagulation Parameters of PCC at Any Visit Post-BaselineLaboratory samples were collected for analysis of coagulation parameters. The PCC values for coagulation parameters activated partial thromboplastin time (aPTT) was 1.5 x ULN and aPTT ratio also known as international normalized ration (INR) was 1.2 x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.Up to Week 48Number of Participants With Clinical Chemistry Parameters of PCC at Any Visit Post-BaselineLaboratory samples were collected for analysis of chemistry parameters. The PCC values for chemistry parameters for alanine amino transferase (ALT) plus total bilirubin (TB) was \>=1.5 x ULN for TB and \>=2 x ULN for ALT, for albumin was 0.86 x LLN, for asparatate amino transferase (AST) was \>=2 x ULN, for calcium was 0.91 x LLN and 1.06 x ULN, for glucose was 0.71 x LLN and 1.41 x ULN, for phosphorus was 0.80 x LLN and 1.14 x ULN, for sodium was 0.96 x LLN and 1.03 x ULN, for potassium was 0.86 x LLN and 1.10 x ULN and that for alkaline phosphatase was \>=2x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.Up to Week 48Number of Participants With Urinalysis Data Outside the Reference Range (>Reference Range High) at Any Visit Post- BaselineUrine samples were collected for analysis of abnormal urine parameters. Quantitative examination included the assessment for urine albumin excretion rate, urine alpha-1-microglobulin, urine creatinine excretion-24 hour and urine protein excretion-24 hour. Only those parameters for which a value of \>reference range high was reported at any visit post-Baseline is presented.Up to Week 48Plasma Concentrations of GSK2402968 Following Subcutaneous AdministrationBlood samples for pharmacokinetic assessment were taken at Week 0 (Randomization) at 0.5, 1, 3 hours post-dose and at Week 8,12, 24, 36 and 47 at pre-dose, and between 1 and 4 hours post-dose. Data has been presented for plasma concentrations of GSK2402968 following subcutaneous administration.Randomization (Week 0 at 0.5, 1 and 3 hours), Week 8 (pre-dose, 1-4 hours), Week 12 (pre-dose, 1-4 hours), Week 24 (pre-dose, 1-4 hours), Week 36 (pre-dose, 1-4 hours), Week 47 (pre-dose, 1-4 hours)False5FalseFalseTrueFalse NCT02907619B5161004PfizerINDUSTRYAn Open-label Extension Study To Evaluate Safety Of PF-06252616 In Boys With Duchenne Muscular Dystrophy2020-10TERMINATEDThis study is an open-label extension to protocol B5161002 and will provide an assessment of the long term safety, efficacy, pharmacodynamics and pharmacokinetics of intravenous dosing of PF 06252616 in boys with Duchenne muscular dystrophy. Approximately 105 eligible subjects will be assigned to receive a monthly individualized maximum tolerated dose based on their tolerability profile/data from B5161002. This study will not contain a placebo comparator. Subjects will undergo safety evaluations (Laboratory, cardiac monitoring, physical exams, x-ray, MRI), functional capacity evaluations (4 stair climb, range of motion, strength testing, Northstar Ambulatory Assessment, upper limb functional testing, six minute walk test and pulmonary function tests) and pharmacokinetic testing.INTERVENTIONALInclusion Criteria: 1. Subjects with Duchenne muscular dystrophy who enrolled and completed study B5161002. 2. Signed and dated informed consent document (ICD) indicating that the subject's parent or legal guardian/caregiver has been informed of all pertinent aspects of the study. 3. Subjects and their legal guardians/caregivers who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures. 4. Subject have; 1. Adequate hepatic function on screening laboratory assessments 2. GLDH less than 20 units/liter (2 x upper limit of normal \[ULN\]) 3. Iron content estimate on the liver MRI within the normal range. Exclusion Criteria: 1. Unwilling or unable (eg, metal implants) to undergo examination with closed MRI. 2. All male subjects who are able to father children and are sexually active and at risk for impregnating a female partner, who are unwilling or unable to use a highly effective method of contraception. In addition, all sexually active male subjects who are unwilling or unable to prevent potential transfer of and exposure to drug through semen to their partners by using a condom consistently and correctly. . 3. Subjects who are investigational site staff members directly involved in the conduct of the study and their family members, site staff members otherwise supervised by the Investigator, or subjects who are related to Pfizer employees directly involved in the conduct of the study. 4. Other severe acute or chronic medical or psychiatric condition or laboratory abnormality that may increase the risk associated with study participation. 5. Participation in other studies involving investigational drug(s), with the exception of B5161002. 6. History of allergic or anaphylactic reaction to a therapeutic or diagnostic protein or additives of this investigational product.MALE2024-10-18T00:00:002016-09-142016-09-142020-10-282016-09-202020-11-232016-10-132018-11-222018-11-22trueTrueFalseThis study is an open-label extension to protocol B5161002 and will provide an assessment of the long term safety, efficacy, pharmacodynamics and pharmacokinetics of intravenous dosing of PF 06252616 in boys with Duchenne muscular dystrophy. Approximately 105 eligible subjects will be assigned to receive a monthly individualized maximum tolerated dose based on their tolerability profile/data from B5161002. This study will not contain a placebo comparator. Subjects will undergo safety evaluations (Laboratory, cardiac monitoring, physical exams, x-ray, MRI), functional capacity evaluations (4 stair climb, range of motion, strength testing, Northstar Ambulatory Assessment, upper limb functional testing, six minute walk test and pulmonary function tests) and pharmacokinetic testing.Duchenne Muscular DystrophyPHASE259Number of Participants With Dose Reduced or Temporary Discontinuation Due to AEsAn adverse event (AE) was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment or usage. Treatment-related AEs were determined by the investigator. The number of participants with dose reduced or temporary discontinuation due to both all-causality and treatment-related AEs are presented below.2 YearsNumber of Participants With Severe Treatment-Emergent Adverse Events (TEAEs)An AE was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment or usage. TEAEs were AEs occurred following the start of treatment or AEs increasing in severity during treatment. Severe TEAEs were TEAEs that interfered significantly with participants' usual function. Treatment-related TEAEs were determined by the investigator. The number of participants with severe all-causality and treatment-related TEAEs are presented below.2 YearsNumber of Participants Who Discontinued From the Study Due to TEAEsAn AE was any untoward medical occurrence in a clinical investigation participant administered a product; the event did not need to have a causal relationship with the treatment or usage. TEAEs were AEs occurred following the start of treatment or AEs increasing in severity during treatment. Treatment-related TEAEs were determined by the investigator. The number of participants who discontinued from the study due to both all-causality and treatment-related TEAEs are presented below.2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - HematologyHematology evaluation included: hemoglobin, hematocrit, red blood cell (RBC) count, platelets, RBC morphology, white blood cell (WBC) count, absolute lymphocytes, absolute atypical lymphocytes, absolute total neutrophils, absolute total neutrophils count, absolute band cells, absolute basophils, absolute eosinophils and absolute monocytes. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (ULN=Upper Limit of Normal; LLN=Lower Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - CoagulationCoagulation evaluation included activated partial thromboplastin time (aPTT) and prothrombin time (PT). (ULN=Upper Limit of Normal). Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004.2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - Liver FunctionLiver function evaluation included: total bilirubin, aspartate aminotransferase (AST), alanine aminotransferase (ALT), gamma-glutamyl transferase (GGT), alkaline phosphatase, total protein, albumin and glutamate dehydrogenase. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (LLN=Lower Limit of Normal; ULN=Upper Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - Renal FunctionRenal function evaluation included: blood urea nitrogen (BUN), creatinine and uric acid. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (ULN=Upper Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - ElectrolytesElectrolytes evaluation included: sodium, potassium, chloride, calcium, phosphate and bicarbonate. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (LLN=Lower Limit of Normal, ULN=Upper Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - HormonesHormone evaluations included free thyroxine (T4), thyroid stimulating hormone (TSH), lutenizing hormone (LH), follicle stimulating hormone (FSH), and androstenedione. Numbers of participants with abnormalities of LH, FSH and androstenedione were reported in different age groups. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (LLN=Lower Limit of Normal, ULN=Upper Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - Clinical ChemistryClinical chemistry evaluation included glucose, creatine kinase (CK), troponin I, amylase, iron binding capacity, unsaturated iron binding capacity, transferrin saturation, iron and ferritin. Number of participants with iron abnormalities was reported in different age groups. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (LLN=Lower Limit of Normal, ULN=Upper Limit of Normal).2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - UrinalysisUrinalysis Microscopy included: urine red blood cell (RBC), urine white blood cell (WBC), urine uric acid crystals, urine calcium oxalate crystals, urine amorphous crystals, urine bacteria, urine microscopic exam. Urinalysis Dipstick included: urine pH, urine glucose, urine ketones, urine protein, urine blood/hemoglobin, urine nitrite, urine leukocyte esterase. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004.2 YearsNumber of Participants With Laboratory Test Abnormalities (Without Regard to B5161004 Baseline Abnormality) - Fecal BloodNumber of participants with blood detected in fecal samples is presented. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (ULN=Upper Limit of Normal).2 YearsNumber of Participants With Data of Serum Ferritin, Serum Iron and % Transferrin Saturation Meeting Categorical Summarization Criteria - B5161004 BaselineParticipants were asked to fast for at least 8 hours prior to collection of blood to evaluate serum iron, serum ferritin and % transferrin saturation. The unit of iron was mcg/dL; the unit of ferritin was ng/mL; the unit of %transferrin saturation was %. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 37, 49, 61, 73 and 85.Number of Participants With Significant Results of Physical Examinations Including Nose and Throat Mucosal ExaminationsPhysical examinations were conducted by a physician, trained physician's assistant, or nurse practitioner as acceptable according to local regulation. A targeted nose and throat mucosal exam was performed to monitor for any signs of mucosal telangiectasias. The clinically significant physical examination results were determined by the investigator.2 YearsSummary of Pubertal Development by Tanner StageTanner staging was performed before the first dose of this study to monitor for signs of accelerated sexual development. The physical changes in pubertal development (pubic hair, penis and testes) were assessed using the system described by Marshall and Tanner. Stage 1 is preadolescent, Stages 2, 3, and 4 are initiation of puberty and Stage 5 is mature adult. Details about the system can be referred to Tanner JM. Growth at Adolescence. Blackwell Scientific Publications 1962; 2nd edition. Participant's Week 97 visit within study B5161002 (parent study) was collected as screening data. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Screening, Baseline, Week 49.Summary of Testicular VolumeTesticular volume was used to monitor pubertal development. Participant's Week 97 visit within Study B5161002 (parent study) was collected as screening data in current study. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Screening, Baseline, Week 49.Number of Participants With Post-Baseline Vital Signs Data Meeting Categorical Summarization Criteria - B5161004 BaselineThe number of participants pre-dose supine blood pressure and pulse rate meeting categorical summarization criteria are recorded in this table. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. (DBP=diastolic blood pressure, SBP=systolic blood pressure; The unit for blood pressure is: mmHg, the unit for pulse rate is: beats per minute \[BPM\])2 YearsNumber of Participants With Post-Baseline Vital Signs Data Meeting Categorical Summarization Criteria - Overall BaselineThe number of participants with data of pre-dose supine blood pressure meeting categorical summarization were recorded in this table. Overall Baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. (DBP=diastolic blood pressure, SBP=systolic blood pressure; The unit for blood pressure is: mmHg).2 YearsNumber of Participants With Post-Baseline ECG Data Meeting Categorical Summarization Criteria - B5161004 BaselineQTcF=QT/(60/Hour)\*\*(1/3). Means of replicates were used in the calculations. QT=time between the start of the Q wave and the end of the T wave in the heart's electrical cycle; QTcF=corrected QT (Fridericia correction). All scheduled ECGs were performed after the participant had rested quietly for at least 10 minutes in a supine position. Baseline was defined as the average of the last triplicate pre-dose measurements prior to Day 1 in B5161004.2 YearsNumber of Participants With Post-Baseline ECG Data Meeting Categorical Summarization Criteria - Overall BaselineQT=time between the start of the Q wave and the end of the T wave in the heart's electrical cycle; QTcF=corrected QT (Fridericia correction). All scheduled ECGs were performed after the participant had rested quietly for at least 10 minutes in a supine position. Overall baseline was defined as the average of the last triplicate pre-dose measurements prior to the first day of dosing in study B5161002.2 YearsNumber of Participants With Iron Accumulation Data Meeting Categorical Summarization CriteriaLiver Magnetic Resonance Imaging (MRIs) were sent to an independent central radiology imaging facility for calculation of the average R2\* value which was used to monitor for iron accumulation in the liver. Mean R2\* values had been used in the calculations. Normal: R2\* \<= 75 Hz at 1.5 T or \<=139 Hz at 3.0 T; Above Normal: R2\* \> 75 Hz and \<= 190 Hz at 1.5 T or R2\* \> 139 Hz and \<= 369 Hz at 3.0 T Mild overload: R2\* \> 190 Hz at 1.5 T or R2\* \> 369 Hz at 3.0 T Data from participant's Week 93 visit in Study B5161002 (parent study) were used for screening in the current study.Screening and Week 49.Change From Baseline in Left Ventricular Ejection Fraction (LVEF) by Cardiac MRI - B5161004 BaselineThe LVEF was the ratio of blood ejected during systole to blood in the ventricle at the end of diastole. LVEF was measured by cardiac magnetic resonance imaging (MRI) or echocardiography. The same method of cardiac imaging was used consistently for each participant. Cardiac MRIs were read by a central imaging vendor, while echocardiograms were read locally (at each site). The table presents the results from cardiac MRIs. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline and Week 49.Change From Baseline in Left Ventricular Ejection Fraction (LVEF) by Cardiac MRI - Overall BaselineThe LVEF was the ratio of blood ejected during systole to blood in the ventricle at the end of diastole. LVEF was measured by cardiac magnetic resonance imaging (MRI) or echocardiography. The same method of cardiac imaging was used consistently for each participant. Cardiac MRIs were read by a central imaging vendor, while echocardiograms were read locally (at each site). The table presents the results from cardiac MRIs. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 49, 97, 146.Change From Baseline in Left Ventricular Ejection Fraction (LVEF) by Echocardiogram - B5161004 BaselineThe LVEF was the ratio of blood ejected during systole to blood in the ventricle at the end of diastole. LVEF was measured by cardiac magnetic resonance imaging (MRI) or echocardiography. The same method of cardiac imaging was used consistently for each participant. Cardiac MRIs were read by a central imaging vendor, while echocardiograms were read locally (at each site). The table presents the results from echocardiograms. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Week 49.Change From Baseline in Left Ventricular Ejection Fraction (LVEF) by Echocardiogram - Overall BaselineThe LVEF was the ratio of blood ejected during systole to blood in the ventricle at the end of diastole. LVEF was measured by cardiac magnetic resonance imaging (MRI) or echocardiography. The same method of cardiac imaging was used consistently for each participant. Cardiac MRIs were read by a central imaging vendor, while echocardiograms were read locally (at each site). The table presents the results from echocardiograms. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 49, 97, 146.Bone Age to Chronological Age RatioBone age assessment was evaluated by the ratio of the bone age to the chronological age using the X rays of the hand and wrist. Ratio of bone age to chronological age was calculated by bone age/chronological age at scan date. Chronological age at scan date was calculated by (scan date - date of birth + 1)/365.25. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline and Week 49.Whole Body and Spine DXA: Bone Mineral Density Z-Score, Height Adjusted Over TimeBone mineral density (BMD) was monitored by dual energy x-ray absorptiometry (DXA). DXA scans were obtained to evaluate bone mineral density of the spine and whole body without head. The height adjusted Z-score presented below is the number of standard deviations which compares the BMD of the participant to the average BMD matched for their age, sex and ethnicity. If the Z-score was -2 standard deviations or lower, the result was "below the expected range for age". If the Z-score was above -2 standard deviations, the result was "within the expected range for age".Screening (Week 97 visit within parent study B5161002) and Week 49Number of Participants With Suicidal Ideation or Suicidal BehaviorThe Columbia Suicide Severity Rating Scale (C-SSRS) was performed to identify the risk of suicide ideation or behavior. C-SSRS was conducted with the participant's caregiver/legal guardian on the participant's behalf throughout the study, rather than administering this evaluation directly with the study participants. If at any visit the participant endorsed a 4 or 5 on the C-SSRS ideation section or reported any suicidality behavior, then an evaluation of suicide risk (risk assessment) had to be completed and the participant must have been discontinued. The significant result of C-SSRS was determined by the investigator.2 YearsChange From Baseline on the 4 Stair Climb (4SC) - B5161004 BaselineThe 4SC quantified the time required for a participant to ascend 4 standard steps. The functional assessment of 4SC was conducted by a physiotherapist (or exercise physiologist). In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessments were completed at approximately the same time of day. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49, 73.Change From Baseline on the 4SC - Overall BaselineThe 4SC quantified the time required for a participant to ascend 4 standard steps. The functional assessment of 4SC was conducted by a physiotherapist (or exercise physiologist). In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessments were completed at approximately the same time of day. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Forced Vital Capacity (FVC) - B5161004 BaselineFVC was measured using the FVC maneuver by spirometry to evaluate respiratory muscle function. The best (largest) FVC measurement from a set of 3 was captured on the database. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the FVC - Overall BaselineForced vital capacity (FVC) was measured using the FVC maneuver by spirometry to evaluate respiratory muscle function. The best (largest) FVC measurement from a set of 3 was captured on the database. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Northstar Ambulatory Assessment (NSAA) Score - B5161004 BaselineThe NSAA was a 17-item test that measured gross motor function. Each individual item was evaluated with either 0-unable to perform independently, 1-able to perform with assistance, 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49, 73.Change From Baseline on the NSAA Score - Overall BaselineThe NSAA was a 17-item test that measured gross motor function. Each individual item was evaluated with either 0-unable to perform independently, 1-able to perform with assistance, 2-able to perform without assistance. A total score was achieved by summing all the individual items. The total score could range from 0 to 34 (fully-independent function). This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the NSAA - Time to Stand From Supine - B5161004 BaselineRise from supine was a timed functional test within NSAA. This test of time-to-stand from supine was analyzed separately for summary tabulation along with the total NSAA score. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49, 73.Change From Baseline on the NSAA - Time to Stand From Supine - Overall BaselineRise from supine was a timed functional test within NSAA. This test of time-to-stand from supine was analyzed separately for summary tabulation along with the total NSAA score. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the NSAA - Time to Complete 10 m Run/Walk - B5161004 BaselineA time to event analysis was performed for loss of ambulation. Loss of ambulation was defined as the inability to walk unassisted and without braces for at least 10 m, as assessed and reported by the investigator at each study visit, and confirmed by the inability to walk/run 10 m (as 1 component of the NSAA) evaluated at the next visit at which timed function tests were performed. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49, 73.Change From Baseline on the NSAA - Time to Complete 10 m Run/Walk - Overall BaselineA time to event analysis was performed for loss of ambulation. Loss of ambulation was defined as the inability to walk unassisted and without braces for at least 10 m, as assessed and reported by the investigator at each study visit, and confirmed by the inability to walk/run 10 m (as 1 component of the NSAA) evaluated at the next visit at which timed function tests were performed. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Ankle Range of Motion (ROM) - B5161004 BaselineROM of the ankle was evaluated by goniometry and any occurrences of ankle contractures were recorded. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of ankle ROM was completed at approximately the same time of day. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the Ankle ROM - Overall BaselineROM of the ankle was evaluated by goniometry and any occurrences of ankle contractures were recorded. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of ankle ROM was completed at approximately the same time of day. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Performance of Upper Limb (PUL) Overall Score - B5161004 BaselineThe PUL scale was used to assess motor performance of the upper limb for individuals with DMD. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into 3 levels; shoulder (4 items), middle (9 items) and distal (8 items). Scoring options per item may not be uniform and may vary from 0-1 to 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores; shoulder maximum 16, middle level maximum score 34 and distal level maximum score 24. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of PUL was completed at approximately the same time of day. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the PUL Overall Score - Overall BaselineThe PUL scale was used to assess motor performance of the upper limb for individuals with DMD. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into 3 levels; shoulder (4 items), middle (9 items) and distal (8 items). Scoring options per item may not be uniform and may vary from 0-1 to 0-6, according to the performance, with higher values corresponding to better performance. A total maximum score of 74 is achieved by adding the individual level scores; shoulder maximum 16, middle level maximum score 34 and distal level maximum score 24. This is the overall change from baseline which included the change since enrolling in parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was counted starting from the study treatment in study B5161002.Baseline, Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Six Minute Walk Distance (6MWD) - B5161004 BaselineThe 6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of 6MWD was completed at approximately the same time of day. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the 6MWD - Overall BaselineThe 6MWD evaluated ambulation ability by measuring the distance walked in 6 minutes. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of 6MWD was completed at approximately the same time of day. This is the overall change from baseline which included the change since enrolling in the parent study B5161002. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was start of the study treatment in parent study B5161002.Baseline,Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Change From Baseline on the Forced Expiratory Volume in One Second (FEV1) - B5161004 BaselineThe FEV1 was recorded as an absolute volume in litres and in terms of predicted values according to age, height, race and gender. The best single FEV1 measurement from a set of 3 was recorded in the database. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the Peak Expiratory Flow Rate (PEFR)- B5161004 BaselinePEFR was one of the Pulmonary Function Tests (PFTs). Three technically adequate peak expiratory flow rate (PEFR) maneuvers were performed and reported in Litres/Minute (L/min), and the highest single PEFR was reported in the database. In order to provide optimal testing conditions and consistency in endpoint measurements, the functional assessment of PEFR was completed at approximately the same time of day. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49 and 73.Change From Baseline on the Myometry Based Muscle Strength - B5161004 BaselineMuscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, elbow extension, hip abduction and shoulder abduction. 95% Confidence Interval was not calculated when less than or equal to 3 participants' data were available. Baseline was defined as the last assessment prior to dosing on Day 1 in B5161004. Week 1 was counted starting from the study treatment in study B5161004.Baseline, Weeks 13, 25, 49, 73.Change From Baseline on the Myometry Based Muscle Strength - Overall BaselineMuscle strength was quantified by means of a handheld dynamometer. The following muscle groups were evaluated: knee extension, elbow flexion, elbow extension, hip abduction and shoulder abduction. 95% Confidence Interval was not calculated when less than or equal to 3 participants' data were available. Overall baseline was defined as the last pre-dose assessment prior to the first day of dosing in study B5161002. Week 1 was start of the study treatment in parent study B5161002.Baseline,Weeks 9,17,25,33,41,49,57,65,73,81,89,97,110,122,146,170.Serum PF-06252616 (Domagrozumab) Concentration Versus Time SummaryWeeks 1, 25, 49 and 73Number of Participants With Anti-drug Antibodies (ADA) DevelopmentThe criterion for positive result of ADA samples was ADA titer \>=1.88. The criterion for negative result of ADA samples was ADA titer \<1.88.Weeks 1, 25, 49, 73 and Early TerminationFalse618FalseFalseFalseFalse NCT04335942APHP190924Assistance Publique - Hôpitaux de ParisOTHERCharacterization of the Postural Habits of Wheelchair Users Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor2023-08COMPLETEDSpinal cord injuries and people with Duchenne Muscular Dystrophy or Infant Spinal Muscular Atrophy (ISA) are prone to pain and pressure sores associated with prolonged sitting. For this reason, it is recommended that people with spinal cord injuries release pressure every 15 to 30 minutes and motorized wheelchair users use the electric positioning functions at least 1 minute every hour. The aim is to prevent and/or reduce pain and pressure sores. These devices could help to observe daily the variability of users' pressure maps, their impact on occupational performance, the link with pain and redness and could propose customized adjustments.INTERVENTIONALInclusion Criteria: * Men or women over 18 years of age, * Daily user of a FR (more than 3 hours per day): * Persons with Duchenne Muscular Dystrophy (DMD) or DMB using an FRE, * People with Infant Spinal Muscular Atrophy (ISA) using an FRE, * WB persons using an MRA with sensitivity disorders (ASIA A). * FRE allowing a switchover of at least: * 25° of the seat and 120° of the backrest, * 45° of sitting in one block, * Patient who has signed an informed and written consent, * Affiliation to a social security scheme (beneficiary or beneficiary). Exclusion Criteria: * Refusal of the patient to participate in the study, * School level lower than cycle 3 not allowing to understand the use of the embedded device, * Severe incontinence, * BM without sensitivity disorders, * Participant in another study or therapeutic trial, * Patient under guardianship or curatorship, * Pregnant women.ALL2024-10-18T00:00:002019-11-222020-04-022023-08-302020-04-072023-08-312021-09-302023-06-012023-06-01falseFalseFalseSpinal cord injuries and people with Duchenne Muscular Dystrophy or Infant Spinal Muscular Atrophy (ISA) are prone to pain and pressure sores associated with prolonged sitting. For this reason, it is recommended that people with spinal cord injuries release pressure every 15 to 30 minutes and motorized wheelchair users use the electric positioning functions at least 1 minute every hour. The aim is to prevent and/or reduce pain and pressure sores. These devices could help to observe daily the variability of users' pressure maps, their impact on occupational performance, the link with pain and redness and could propose customized adjustments.Duchenne Muscular Dystrophy;Spinal Muscular AtrophyNA36Evaluate the impact of a device, monitoring the wheelchair user's risk of pressure sores and issuing alerts based on international recommendations, on the support reliefs provided by the subject in an ecological situationPrimary outcome will be evaluated with the number of modification of relief or changing of position with or without alert. The metric used will be the number of average reliefs per hour performed by the patient. This number of reliefs will be compared with and without an alert system.14 daysthe differences in occupational performance at the MCRO (Mesure canadienne du rendement occupationnel) scoreAnalyze the differences in occupational performance at the MCRO score. An improvement in MCRO score will mean an improvement of occupational performance in psychosocial dimensions.14 daysthe impact of visual biofeedback of the pressure print on chairQuantify the impact of visual biofeedback of the pressure print on chair positioning by modification of the seat within 5 minutes following the visual cartography consultation14 daysFeasibility study of integrating international recommendations to reduce the risk of pressure ulcers in a medical devicethe aim is to verify the technical feasibility of integrating international recommendations to reduce the risk of pressure ulcers in a medical device in relation to the position in the chair through: adequacy between pressure cartography the same label posture over time as well as adequacy between the alert and the type of pressure imprint14 daysthe study of the acceptability by the patient of alerts in relation with international recommendationsthe study of the acceptability by the patient of alerts in relation with international recommendations will be evaluated with the duration of change in alert characteristics by patient after two days of non-modifiable alerts14 daysthe study of the acceptability by the patient of alerts in relation with international recommendationsthe study of the acceptability by the patient of alerts in relation with international recommendations will be evaluated with the frequency of change in alert characteristics by patient after two days of non-modifiable alerts14 daysFalse18FalseFalseFalseFalse NCT03534349GO 16/740Hacettepe UniversityOTHERLower Limb Flexibility in Duchenne Muscular Dystrophy: Effects on Functional Performance2018-05COMPLETEDThe investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.OBSERVATIONALInclusion Criteria: * Having a Duchenne Muscular Dystrophy diagnosis, * Being in the ambulatory period and climbing four steps independently, * To be able to cooperate the physiotherapist's directions, * Not having any severe contracture in the lower limbs which may prevent assessments, * Not having any injury or surgery involving the lower limbs during the last 6 months. Exclusion Criteria: Children who did not provide these criteria and did not will to participate the study were excluded.MALE2024-10-18T00:00:002018-05-102018-05-122018-05-222018-05-232018-05-242017-012017-062017-12falseFalseFalseThe investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy;Performance;Flexibility306 Minute Walk TestThe 6 Minute Walk Test (6MWT) is a standard test recently used to evaluate functional capacity in neuromuscular diseases, and found to be a safe and valid test that can be performed in Duchenne Muscular Dystrophy6 MinuteTimed Performance TestTimed performance tests such as 10 m walk, Gower's (from supine position to stand up), ascending/descending 4 steps were also performed. During these tests, the child's performance was recorded in seconds.3 minuteFalse5FalseFalseFalseFalse NCT01874275VECTTOR DMD2012Alan Neuromedical Technologies, LLCINDUSTRYDuchenne Muscular Dystrophy Clinical Trial2015-04COMPLETEDThe primary objective of this investigation is to assess the effectiveness of transcutaneous electrical nerve stimulation applied using VECTTOR to reduce the symptoms of Duchenne Muscular Dystrophy and reduce the impact of DMD upon the participants' quality of life. The primary outcome measures will include: 1. increased muscle strength, 2. increased range of joint motions and 3. improved sleep parameters of ASI, N3 and REM.INTERVENTIONALInclusion Criteria: * Participants must have Duchenne Muscular Dystrophy diagnosis as confirmed by licensed physician, wheelchair bound, \& age 8 - 20 years old. Exclusion Criteria: * Active cancer in the area of application of the treatment, infection, skin infection, pregnancy, thrombophlebitis, pacemaker, amputation of any part of feet or hands, taking steroids. In addition, the participant may not be in any other clinical trial during the time they are in this study.ALL2024-10-18T00:00:002013-06-072013-06-102015-04-142013-06-112015-05-042013-062014-092014-09falseThe primary objective of this investigation is to assess the effectiveness of transcutaneous electrical nerve stimulation applied using VECTTOR to reduce the symptoms of Duchenne Muscular Dystrophy and reduce the impact of DMD upon the participants' quality of life. The primary outcome measures will include: 1. increased muscle strength, 2. increased range of joint motions and 3. improved sleep parameters of ASI, N3 and REM.Duchenne Muscular DystrophyNA6Percent Change in Range of Motion From Baseline to 180 DaysRange of Motion (ROM) testing (Wireless Tracker System) - All muscle and joint testing was performed using the JTech computerized testing system, including Goniometry, Grip Testing, Inclinometry, Muscle Testing and Joint Range of Motion. Testing occurred at Baseline (Day 0), 30, 60, 90 and 180 days to determine changes in joint Range of Motion. JTech computerized testing system determined the joint range of motion by radio signals from a goniometer measuring movement of the participants' joints. 44 separate tests were performed for Range of Motion for each participant at each time interval. The results from the range of motion tests were averaged the percent change from baseline to 180 days. Efficacy is defined as an increase in range of motion.Baseline to 180 daysPercent Change in Muscle StrengthMuscle strength testing (Wireless Tracker system) - All muscle strength testing was performed using the JTech computerized testing system, including Goniometry, Grip Testing, Inclinometry, Muscle Testing and Joint Range of Motion. Testing occurred at Baseline (Day 0), 30, 60, 90, and 180 days to determine changes in muscle strength. JTech computerized testing system determined the muscle strength by radio signals from a strain gauge measuring strength of the participant's muscles. 44 separate tests were performed for muscle strength for each participant at each time interval. Efficacy is defined as an increase in the strength measurement (pounds) from Baseline to 180 days.Baseline to 180 daysPercent Change in Percent Range of Motion From Baseline to 365 DaysRange of Motion (ROM) testing (Wireless Tracker System) - All muscle and joint testing was performed using the JTech computerized testing system, including Goniometry, Grip Testing, Inclinometry, Muscle Testing and Joint Range of Motion. Testing occurred at Baseline (Day 0), 30, 60, 90, 180 and 365 days to determine changes in joint Range of Motion. JTech computerized testing system determined the joint range of motion by radio signals from a goniometer measuring movement of the participants' joints. 44 separate tests were performed for Range of Motion for each participant at each time interval. The results from the range of motion tests were averaged the percent change from baseline to 365 days. Efficacy is defined as an increase in range of motion.Baseline to 365 daysPercent Change in Muscle StrengthMuscle strength testing (Wireless Tracker system) - All muscle strength testing was performed using the JTech computerized testing system, including Goniometry, Grip Testing, Inclinometry, Muscle Testing and Joint Range of Motion. Testing occurred at Baseline (Day 0), 30, 60, 90, 180 and 365 days to determine changes in muscle strength. JTech computerized testing system determined the muscle strength by radio signals from a strain gauge measuring strength of the participant's muscles. 44 separate tests were performed for muscle strength for each participant at each time interval. Efficacy is defined as an increase in the strength measurement (pounds) from Baseline to 365 days.Baseline to 365 daysFalse820FalseFalseFalseFalse NCT03951675OCR21561University of FloridaOTHERThe Burden of Access in Duchenne Muscular Dystrophy in the US2020-08COMPLETEDThis study is being conducted to determine if DMD patients / families and healthcare providers experience burdens related to access, and if so, to identify them, and to determine life impacts to the patient, if any, of these burdens. Data from healthcare providers will be collected by an online survey and from patients/families by one on one telephone interview.OBSERVATIONALInclusion Criteria: Patient/Parent interviews * Patients residing in the US who have been diagnosed with DMD who are age 18 years or older, or the parent / legal guardian of a person of any age who has been diagnosed with DMD, * Have provide "Proof of DMD" to ensure that they are impacted by the disease, * Who have provided sufficient information in the RSVP process to determine their functional status; ambulatory, transitional or non-ambulatory, * State that they are the person who deals with insurance issues for the affected patient and, * Who are able to understand and consent to participation in the study Healthcare Provider survey * Healthcare providers (physicians, nurse practitioners, and physician assistants) currently involved in the care of patients with DMD * Are currently practicing in the US, * Who have provided sufficient information in the survey screening to determine that they currently care for DMD patients, * State that they and/or persons on their staff interface with insurance companies for DMD patients related to access to medications, services and/or medical equipment and, * Who are able to understand and consent to participation in the study Exclusion Criteria: * There are no stated exclusion criteria in this study. Study population must meet all inclusion criteria in order to be deemed eligible to participate.ALL2024-10-18T00:00:002019-05-142019-05-142020-08-042019-05-152020-08-062019-06-182020-05-282020-05-28falseFalseFalseThis study is being conducted to determine if DMD patients / families and healthcare providers experience burdens related to access, and if so, to identify them, and to determine life impacts to the patient, if any, of these burdens. Data from healthcare providers will be collected by an online survey and from patients/families by one on one telephone interview.Duchenne Muscular Dystrophy57Burden frequency by functional categoryThe frequency that each burden is mentioned by a patient according to their functional category as measured by the VIGNOS scale. This is the number of times each burden is mentioned by a patient during their interview, assessed by each functional category.Over 12 monthsBurden frequency by type of insuranceThe frequency that each burden is mentioned by a patient according to their insurance coverage. This is the number of times each burden is mentioned by a patient during their interview, assessed by each type of insurance.Over 12 monthsLife impact frequency by functional categoryThe frequency that each life impact is mentioned by a patient according to their functional category as measured by the VIGNOS scale. This is the number of times each life impact is mentioned by a patient during their interview, assessed by each functional category.Over 12 monthsLife impact frequency by type of insuranceThe frequency that each life impact is mentioned by a patient according to their insurance coverage. The number of times each life impact is mentioned by a patient during their interview, assessed by each type of insurance.Over 12 monthsTrue1899FalseFalseFalseTrue NCT00606775TN1966220Suzuka HospitalOTHER_GOVThe Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy2007-12UNKNOWNPurpose This cardiac dysfunction in patients with Duchenne muscular dystrophy is associated with minor cardiac damage as indicated by elevation of plasma cardiac troponin I (cTnI). The purpose of this study is to investigate whether the administration of Carvedilol can suppress the minor cardiac damage and prevent deterioration of cardiac function.INTERVENTIONALInclusion Criteria: Male patients with Duchenne muscular dystrophy are required to meet the following criteria: 1. Aged ８ to 45 years 2. Positive plasma cardiac troponin I (0.06ng/mL) at least 4 blood measurement in every 3 month. 3. Left ventricular ejection fraction \>30% by echocardiography assessment 4. Written informed consent Exclusion Criteria: Patients with the following conditions will be excluded from the study: 1. Left ventricular ejection fraction \<30% 2. No plasma cTnI elevation 3. beta-blocker is already administered without measurement of plasma cTnI 4. Contraindication against treatment with β blockers 5. Any other serious disease that could potentially complicate the management and follow-up protocolsMALE2024-10-18T00:00:002008-01-222008-02-042008-02-042008-02-052008-02-052007-122008-122012-12truePurpose This cardiac dysfunction in patients with Duchenne muscular dystrophy is associated with minor cardiac damage as indicated by elevation of plasma cardiac troponin I (cTnI). The purpose of this study is to investigate whether the administration of Carvedilol can suppress the minor cardiac damage and prevent deterioration of cardiac function.Duchenne Muscular Dystrophy;CardiomyopathiesPHASE460The suppression of minor cardiac damage indicated as elevation of plasma cTnI2 yearsLeft ventricular function deterioration assessed by echocardiography In-hospital mortality for cardiac dysfunction In-hospital mortality for any cause Overall mortality5 yearsFalse845FalseFalseFalseFalse NCT01359670PPMDCedars-Sinai Medical CenterOTHERTadalafil and Sildenafil for Duchenne Muscular Dystrophy2018-04COMPLETEDThis study, supported by Parent Project Muscular Dystrophy, will determine if tadalafil or sildenafil can improve muscle blood flow during exercise in boys with Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: 1. Diagnosis of DMD confirmed by muscle biopsy or DNA analysis 2. Age 7-15y 3. Ambulatory 4. No clinical evidence of heart failure Exclusion Criteria: 1. Hypertension, diabetes, or heart failure by standard clinical criteria 2. Elevated BNP level (\>100 pg/ml) 3. LVEF \< 50% 4. Wheelchair bound 5. Cardiac rhythm disorder, specifically: rhythm other than sinus, SVT, atrial fibrillation, ventricular tachycardia 6. Continuous ventilatory support 7. Liver disease 8. Renal impairment 9. Contraindications to tadalafil or sildenafil (use of nitrates, alpha-blockers, CYP3A inhibitors, amlodipine, or other PDE5A inhibitors)MALE2024-10-18T00:00:002011-05-232011-05-242020-01-102011-05-252020-01-142011-052013-052013-05falseThis study, supported by Parent Project Muscular Dystrophy, will determine if tadalafil or sildenafil can improve muscle blood flow during exercise in boys with Duchenne muscular dystrophy.Duchenne Muscular DystrophyEARLY_PHASE130Functional muscle ischemiaMeasured by the decrease in muscle tissue oxygenation (near infrared spectroscopy) and blood flow (Doppler ultrasound) evoked by reflex sympathetic activation in exercising forearm muscle.For 5 study visitsCardiac FunctionEchocardiogramFor 5 study visitsEKG Monitoring48 hour Holter monitoring5 times over about 6 weeks6 Minute Walk TestFor 5 study visitsPhysical ActivityAssessed by accelerometers5 times over about 6-weeksQuality of LifePedsQL inventoryFor 5 study visitsFalse715FalseFalseFalseFalse NCT05195775IRB202102391University of FloridaOTHERTadalafil as Adjuvant Therapy for DMD2024-01RECRUITINGThis project will assess the vascular responsiveness in leg muscles of boys with Duchenne muscular dystrophy (DMD) to one single dose of tadalafil, a common vasodilator drug, using non-invasive techniques (MRI or Doppler ultrasound) and exercise testing. These findings will provide proof of concept for a subsequent intervention study to demonstrate efficacy of longer-term tadalafil to counter sympathetic vasoconstriction and slow disease progression in DMD. It will also inform whether a group of patients do not respond to the drug.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed by 1) clinical history with features before the age of five, 2) physical examination, 3) elevated serum creatine kinase level and 4) absence of dystrophin expression, as determined by immunostaining or Western blot (\<2%) and/or DNA confirmation of dystrophin mutation. * Minimum entry age of 7.0 years * Ambulatory Exclusion Criteria: * Older than 13.0 years of age * Contraindication to an MR examination (e.g. aneurysm clip, severe claustrophobia, magnetic implants) * Presence of unstable medical problems * Presence of a secondary condition that impacts muscle function or muscle metabolism (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease) * Contraindications to Tadalafil (use of nitrates, alpha-adrenergic blockers, other PDE5A inhibitors)MALE2024-10-18T00:00:002022-01-042022-01-042024-01-302022-01-192024-01-312021-12-142024-10-202025-01-20falseTrueFalseThis project will assess the vascular responsiveness in leg muscles of boys with Duchenne muscular dystrophy (DMD) to one single dose of tadalafil, a common vasodilator drug, using non-invasive techniques (MRI or Doppler ultrasound) and exercise testing. These findings will provide proof of concept for a subsequent intervention study to demonstrate efficacy of longer-term tadalafil to counter sympathetic vasoconstriction and slow disease progression in DMD. It will also inform whether a group of patients do not respond to the drug.Duchenne Muscular DystrophyPHASE2PHASE325Change in post-contractile BOLD response after tadalafil dosingMRI technique to measure microvascular function in skeletal muscleMRI will be done 3 hours after dosing/no-dosing on two separate study visitsChange in post-exercise hyperemia after tadalafil dosingDoppler ultrasound will be used to measure blood flowDoppler ultrasound will be done 3 hours after dosing/no-dosing on two separate study visitsChange in submaximal exercise capacity after tadalafil dosingincremental cardiopulmonary exercise testing on cycle ergometer will be performed to measure heart rate and parameters of exercise performance.Cycle testing will be done 4 hours after dosing/no-dosing on two separate study visitsFalse713FalseFalseFalseFalse NCT02195999IRB201300420University of FloridaOTHERAssessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy2019-07COMPLETEDThis study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.OBSERVATIONALInclusion Criteria: * Male * 5-15 years old at the time of enrollment * Diagnosed with DMD (as defined by parent project) * Written parental informed consent (and assent where appropriate) before any study procedures take place Exclusion Criteria: * Contraindication to an MRI examination * Presence of a secondary condition that impacts muscle function or metabolism, that leads to developmental delay or impaired motor control, or that is not stable * Participant is unable to comply with study requirements * Congenital structural abnormality of the heart, repaired or unrepaired * Clinically contraindicated participationMALE2024-10-18T00:00:002014-07-172014-07-172019-07-032014-07-212019-07-082013-122019-03-062019-03-06falseFalseFalseThis study seeks to develop and validate non-invasive assessments of cardiac and respiratory muscles with magnetic resonance imaging (MRI) to better predict the natural disease progression of Duchenne muscular dystrophy (DMD) in affected individuals over time, as well as determine whether peripheral skeletal muscle dysfunction can predict cardiopulmonary dysfunction. The central hypothesis is that non-invasive MRI measures of the heart, muscle, and peripheral skeletal muscles can sensitively predict future cardiopulmonary decline.Muscular Dystrophy, Duchenne9Magnetic Resonance (MRI) T2 and Magnetic Resonance Spectroscopy (MRS)The MRI T2 and MRS will be used as a noninvasive marker of myocardial damage/inflammation of participants of this study as an early detection for DMD.up to 4 yearsPulmonary Function Testing (PFT)Non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.up to 4 yearsMetabolic Exercise Testing (exercise capacity and MVO2)With the use of metabolic exercise testing, the aim is to correlate changes in cardiopulmonary function with decline in peripheral skeletal muscle function in individuals with DMD. Metabolic exercise testing includes measuring exercise capacity and maximum oxygen consumption (MVO2).up to 4 yearsMultiple-echo DixonThe echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure. This method and MRS will also be used for fat fraction determination.up to 4 yearsFalse515FalseFalseFalseFalse NCT05693142RGX-202-1101REGENXBIO Inc.INDUSTRYAFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)2024-07RECRUITINGRGX-202 is a gene therapy designed to deliver a transgene for a novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain. This is a multicenter, open-label dose evaluation clinical study to assess the safety, tolerability and clinical efficacy of a one-time intravenous (IV) dose of RGX-202 in participants with Duchenne.INTERVENTIONALInclusion Criteria: * DMD gene mutation in exons 18 and above, and a clinical picture consistent with typical DMD with the exception of a participant (Cohort 1b) with DMD gene mutation in exons 12-17. * Participant is able to walk 100 meters independently without assistive devices. Cohort 2c participant must be able to walk 10 meters independently without assistive devices. Cohort 1b participant must be able to walk with or without assistive devices. * Participant is able to complete the TTSTAND per protocol-specific criteria. * Participant has been on a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks prior to obtaining the pharmacodynamic assessments, imaging assessments, patient-reported outcomes, and functional clinical outcome assessments within the Day -60 to Day -3 screening period. Cohort 2c participants must be consistently on or off a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks prior to obtaining the pharmacodynamic assessments, imaging assessments, patient-reported outcomes, and functional clinical outcomes assessments within the Day -60 to Day -3 screening period and the 12 month duration of the study. * Clinical laboratory test results, including hepatic and renal function, are within the normal range during screening, or if abnormal, are not clinically significant, in the opinion of the investigator. * Documentation is provided at screening visit for participant's adherence to the local country's vaccination schedule. The parent(s) or legal guardian(s) must be willing to have their child receive a meningococcal vaccine, if not already vaccinated. * Participant and parent(s)/legal guardian(s) are willing and able to comply with scheduled visits, study intervention administration plan, and study procedures. Exclusion Criteria: * Participant has any condition that would contraindicate treatment with immunosuppression. * Participant has received ataluren (a protein restoration therapy) or an exon-skipping therapy for the treatment of DMD within 6 months of study entry or is unable to refrain from taking ataluren or exon-skipping therapy for a duration of 5 years from the time of RGX-202 administration. * Participant has received any investigational or commercial gene therapy product over his lifetime. * Participant is currently taking any other investigational intervention (other than corticosteroids) or has taken any other investigational intervention (other than corticosteroids) within 3 months prior to the scheduled Day 1 intervention. If the corticosteroid is 6 mg/kg/day vamorolone, the participant must be converted to daily prednisolone or prednisone for a period of 12 weeks starting the day before the scheduled Day 1 intervention before being allowed to resume vamorolone at the original dose, unless the investigator determines that this is not clinically indicated or possible. * Participant has detectable AAV8 total binding antibodies in serum. * Participant has impaired cardiac function defined as a left ventricular ejection fraction of \< 55% on screening cardiac assessments (echocardiogram or MRI). * Participant is not a good candidate for the study, in the opinion of the investigator.MALE2024-10-18T00:00:002023-01-042023-01-122024-07-192023-01-202024-07-232023-01-042025-122025-12trueTrueFalseRGX-202 is a gene therapy designed to deliver a transgene for a novel microdystrophin that includes functional elements of naturally-occurring dystrophin including the C-Terminal (CT) domain. This is a multicenter, open-label dose evaluation clinical study to assess the safety, tolerability and clinical efficacy of a one-time intravenous (IV) dose of RGX-202 in participants with Duchenne.Duchenne Muscular DystrophyPHASE1PHASE215Safety measured by incidence of Adverse Events and Serious Adverse EventsEvaluate incidences of AEs and SAEs52 weeksEfficacy measured by change in Functional AssessmentChange from baseline in motor skills as measured by North Star Ambulatory Assessment (NSAA).Multiple timepoints through 52 weeksEfficacy measured by change in Functional AssessmentChange from baseline in motor skill acquisition as measured by the Peabody Developmental Motor Scale-Third Edition (PDMS-3).Multiple timepoints through 52 weeksMicrodystrophin protein expressionRGX-202 microdystrophin protein levels determined in muscle biopsy and the vector genome concentrations in muscle at assessed time points.12 weeksPharmacokinetics (PK)Vector genome concentrations as measured by polymerase chain reaction \[PCR\] to RGX-202 deoxyribonucleic acid \[DNA\] in serum.Multiple timepoints through 52 weeksVector SheddingVector genome concentrations as measured by polymerase chain reaction \[PCR\] to RGX-202 deoxyribonucleic acid \[DNA\] in urine.Multiple timepoints through 52 weeksFalse111FalseFalseFalseFalse NCT0664344224HL14Centre Hospitalier Universitaire VaudoisOTHERRepurposing Empagliflozin for DMD-associated Cardiomyopathy in Children 6-18 Years of Age2024-10NOT_YET_RECRUITINGThis study aims at exploring the use of empagliflozin in children and adolescents 6-18 years old with Duchenne muscular distrophy (DMD) - associated cardiomyopathy. This molecule is effective in reducing hospitalizations and mortality in adults with heart failure and is used in adolescents with type 2 diabetes mellitus, but little is known on children and adolescents with heart failure. Particularly, the best dose to use in this population is currently unknown. This trial aims to: 1. define a dose rationale for this indication and age group (pharmacokinetic study), 2. assess and monitor safety, 3. assess ease-of-swallow, 4. explore middle-term (3-6 months) efficacy and efficacy markers. Participants will be asked to attend 5 study visits over 6 months, and one end-study visit 2-12 weeks thereafter. Visit 1 will entail an 8h day-hospital stay, while Visits 2, 3, 4 and 5, as well as the end-study visit, will be outpatient clinics (approximately 2h). Participants will be asked to take the studied drug once daily during the 6 months of the study period. No comparison group is foreseen for this study.INTERVENTIONALInclusion Criteria: * Children or adolescents 6 to 18 years of age with DMD-associated cardiomyopathy, followed either as in- or outpatients, will be eligible for inclusion. * Currently on heart failure medication (any drug or any combination). * Patients should potentially benefit from adding a SGLT2i (as judged by the treating physician and the PI or Co-PI). * Patients need to be on stable medical treatment, defined as no new heart failure drug started over the preceding 2 weeks and no major drug dose modification (apart minor adaptations, like weight adaptations, rounding or formulation changes) during the 2 weeks prior to enrolment. * Adolescents, respectively parents or caregivers of children, capable of giving informed consent. * Ability to tolerate a cardiac MRI investigation without the need of general anaesthesia. Exclusion Criteria: * Inability to understand and go through the informed consent procedure. * Inability to receive medications per os or through a nasogastric tube. * Patients on either insulin or metformin will be excluded from participation. This implies the exclusion of patients with Diabetes mellitus (either type 1 or type 2 or other rare forms) necessitating either insulin or metformin. * Type 1 Diabetes mellitus or any underlying metabolic disease associated with hypoglycaemias. * Body weight \<15kg. * Current smokers (defined as \>1 cigarette/week). * Use of any other nicotine-delivering product (e.g. nicotine patches). * Any known illicit drug abuse. * Active chronic HBV, HCV or HIV. * Any major surgery within 4 weeks of first dose administration. * Blood transfusion recipient within 4 weeks of dose administration. * eGFR \<45mL/min/1.73m2 (simplified Schwartz formula or Filler formula). * K+ \>6.5mmol/L. * Blood glucose \<4mmol/L. * There are no blood pressure exclusion criteria foreseen, but participants need to be haemodynamically stable, as assessed by the local investigator. * Sustained or symptomatic arrhythmia insufficiently controlled with drug and/or device therapy. * Cardio-surgical procedure within the 2 months prior to Visit 1, or interventional cardiac catheterization within 2 weeks prior to Visit 1, or the patient is planned to undergo cardiac surgery or an interventional cardiac catheterization during the study period (i.e. in the 6 months following Visit 1). * Post-menarchal female patients of childbearing potential cannot be included. * Known lactose intolerance, galactose intolerance, total lactase deficiency, or glucose-galactose malabsorption. * Known allergies to excipients of commercially available empagliflozin tablets. * Significant medical history of active severe medical disease. * Significant liver disease, Child Pugh Class C, or significant laboratory abnormalities at enrolment. * Significant gastroenterological or hepatic disease that could significantly impair absorption or metabolism of orally administered drugs. * Any medical co-morbidity, which is deemed incompatible (or only with relevant risk) with study participation by the treating clinician and/or the study investigator. * Active urinary tract infection (being treated with antibiotics at the moment of Visit 1) or other relevant bacterial infection, as judged by the treating clinician and/or the study investigator. * The patient is currently participating in another interventional clinical trial or has participated in such a trial during the \<14 days before Visit 1 (or if enrolment in this study is incompatible with the protocol of that preceding trial).ALL2024-10-18T00:00:002024-06-032024-10-112024-10-112024-10-162024-10-162025-02-012026-07-312026-07-31trueFalseFalseThis study aims at exploring the use of empagliflozin in children and adolescents 6-18 years old with Duchenne muscular distrophy (DMD) - associated cardiomyopathy. This molecule is effective in reducing hospitalizations and mortality in adults with heart failure and is used in adolescents with type 2 diabetes mellitus, but little is known on children and adolescents with heart failure. Particularly, the best dose to use in this population is currently unknown. This trial aims to: 1. define a dose rationale for this indication and age group (pharmacokinetic study), 2. assess and monitor safety, 3. assess ease-of-swallow, 4. explore middle-term (3-6 months) efficacy and efficacy markers. Participants will be asked to attend 5 study visits over 6 months, and one end-study visit 2-12 weeks thereafter. Visit 1 will entail an 8h day-hospital stay, while Visits 2, 3, 4 and 5, as well as the end-study visit, will be outpatient clinics (approximately 2h). Participants will be asked to take the studied drug once daily during the 6 months of the study period. No comparison group is foreseen for this study.DMD-associated Dilated CardiomyopathyPHASE212Pharmacokinetics - apparent clearance (CL/F)Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \& simulation techniques). Basing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including CL/F).Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)Pharmacokinetics - apparent (central) volume of distribution (Vd/F)Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \& simulation techniques). Basing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including Vd/F).Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)Pharmacokinetics - half-lifeEmpagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \& simulation techniques). Basing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including t1/2).Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)Pharmacokinetics - AUCEmpagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \& simulation techniques). Basing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including AUC).Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)Pharmacokinetics - maximal concentration (Cmax)Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \& simulation techniques). Basing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including Cmax).Time Frame: Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)Safety 1 - eGFRCreatinine, respectively Cystatin C, will be collected in order to calculate eGFR (bedside Schwartz formula, respectively Filler equation).Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Safety 2 - Occurrence of hypoglycemiaBlood glucose will be checked three times at Visit 1 (baseline, at approximately 2-3h post-intake, and before discharge at 8h post-intake), as well as once at Visits 2 to 5. Outcome measure: number of patients experiencing hypoglycemia.Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Safety 3 - Occurrence of ketoacidosisThe outcome is presence (or absence) of ketoacidosis. This will be assessed at Visits 1, 2, 3, 4 and 5. Outcome measure: number of patients experiencing ketoacidosis.Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Safety 4 - Occurrence of UTIThe outcome is presence (or absence) of UTI diagnosis. This will be assessed at Visits 1, 2, 3, 4 and 5. Outcome measure: number of patients experiencing UTI between Visit 2 and Visit 5.Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Ease of swallowEase of swallow will be assessed by means of facial hedonic scales, according to our standard procedure, at Visit 1. (Scale 1 to 4, 1 being the worse and 4 the best score: very difficult - difficult - possible - easy to swallow.)Visit 1 (Visit 1 = day 1)Efficacy and efficacy markers (exploratory) 1 - Heart failure severity classSymptoms, clinical signs, NYHA (if \> or =8 years of age) / Ross (if \<8 years of age) class assignment. NYHA and Ross heart failure classes share the same scale of I (no limitation of physical activity) to IV (symptoms at rest). Analysis will be performed at Visit 1, Visit 4 and Visit 5. Outcome: change between Visit 1 and Visit 5.Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 2 - NT-proBNP levelAnalysis will be performed at Visits 1, 3, 4 and 5. Outcome: change between Visit 1 and Visit 5.Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 3 - Echocardiography 1: Left-ventricular end-diastolic diameter (LVEDd)LVEDd (z-score) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 4 - Echocardiography 2: Left-ventricular end-systolic diameter (LVESd)LVESd (z-score) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 5 - Echocardiography 3: Fractional shortening (FS)FS (%) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 6 - Echocardiography 4: Left ventricular ejection fraction (LV-EF)LV-EF (%) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 7 - cMRI 1: Left ventricular end-diastolic volumeLV end-diastolic volume will be measured at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 8 - cMRI 2: Left ventricular end-systolic volumeLV end-systolic volume will be measured at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 9 - cMRI 3: Left ventricular ejection fractionLV end-systolic ejection fraction will be measured/calculated at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolmentEfficacy and efficacy markers (exploratory) 10 - cMRI 4: Presence of late gadolinium enhancementPresence (y) or absence (n) of late gadolinium enhancement in each of the 17 AHA segments will be measured at Visits 1 and 5. Outcome: change in number of LGE positive segments between Visit 1 and Visit 5.Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)Efficacy and efficacy markers (exploratory) 11 - cMRI 5: Extracellular volume (ECV)Extracellular volume (ECV) will be measured/calculated at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)False618FalseFalseFalseFalse NCT03038399VBP15-LTEReveraGen BioPharma, Inc.INDUSTRYLong-term Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)2021-04COMPLETEDThis long-term extension study is an open-label, multiple-dose study to evaluate the long-term safety, tolerability, efficacy and PD of vamorolone administered once daily by liquid oral suspension over a Treatment Period of 24 months to young boys with DMD who participated in the VBP15-002 Phase IIa and VBP15-003 Phase IIa extension core studies.INTERVENTIONALInclusion Criteria: 1. Subject's parent or legal guardian has provided written informed consent and HIPAA authorization (if applicable) prior to any VBP15-LTE long-term extension study-specific procedures; 2. Subject has previously completed study VBP15-003 up to and including the Week 24 Final assessments, prior to enrolling in the VBP15-LTE study at the conclusion of the VBP15-003 Week 24 Visit \[Note: if entering the dose-tapering period, subject is enrolling within 8 weeks after the VBP15-003 final visit following dose-tapering\]; and 3. Subject and parent/guardian are willing and able to comply with scheduled visits, study drug administration plan, and study procedures. Exclusion Criteria: 1. Subject had a serious or severe adverse event in study VBP15-003 that, in the opinion of the Investigator, was probably or definitely related to vamorolone use and precludes safe use of vamorolone for the subject in this long-term extension study; 2. Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; 3. Subject has current or history of chronic systemic fungal or viral infections; 4. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study medication; 5. Subject has evidence of symptomatic cardiomyopathy. \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; 6. Subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 3 months cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis. Inhaled and/or topical glucocorticoids prescribed for an indication other than DMD are permitted but must be administered at stable dose for at least 3 months prior to study drug administration\]; 7. Subject has used idebenone within 4 weeks prior to the first dose of study medication; 8. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents; 9. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 10. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator 11. Subject is currently taking any investigational drug, or has taken any investigational drug other than vamorolone within 3 months prior to the start of study treatment. Note: Subjects may be re-evaluated if ineligible due to a transient condition which would prevent the subject from participating.MALE2024-10-18T00:00:002017-01-302017-01-302021-04-282017-01-312021-05-202017-02-022020-04-302020-04-30trueTrueFalseThis long-term extension study is an open-label, multiple-dose study to evaluate the long-term safety, tolerability, efficacy and PD of vamorolone administered once daily by liquid oral suspension over a Treatment Period of 24 months to young boys with DMD who participated in the VBP15-002 Phase IIa and VBP15-003 Phase IIa extension core studies.Duchenne Muscular DystrophyPHASE246Number of Participants With Treatment-related Adverse Events as Assessed by CTCAE Version 4.03To evaluate the long-term safety and tolerability of vamorolone, administered orally at daily doses up to 6.0 mg/kg/day over a 24- month Treatment Period, in boys ages 4-7 years with DMD; Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination);24 monthsTotal Number of Adverse Events as Assessed by CTCAE Version 4.03To evaluate the long-term safety and tolerability of vamorolone, administered orally at daily doses up to 6.0 mg/kg/day over a 24-month Treatment Period, in boys ages 4-7 years with DMD. Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination).24 MonthsFalse47FalseFalseFalseFalse NCT04060199NS-065/NCNP-01-301NS Pharma, Inc.INDUSTRYStudy to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53)2023-10COMPLETEDThe main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.INTERVENTIONALInclusion Criteria: * Male ≥ 4 years and \< 8 years of age * Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 53 to restore the dystrophin mRNA reading frame * Able to walk independently without assistive devices * TTSTAND \< 10 seconds * Stable dose of glucocorticoid (GC) for at least 3 months prior to study entry and is expected to remain on stable dose of GC treatment for the duration of the study * Other inclusion criteria may apply Exclusion Criteria: * Current or history of chronic systemic fungal or viral infections * Acute illness within 4 weeks prior to the first dose of study drug * Evidence of symptomatic cardiomyopathy (Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary) * Allergy or hypersensitivity to the study drug or to any of its constituents * Severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator * Previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the investigator; * Surgery within the 3 months prior to the first dose of study drug or surgery is planned for anytime during the duration of the study * Participant has positive test results for hepatitis B antigen, hepatitis C antibody or human immunodeficiency virus (HIV) * Currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study drug or within 5 times the half-life of a medication, whichever is longer * Previously enrolled in an interventional study of viltolarsen * Currently taking any other exon skipping agent or has taken any other exon skipping agent within 3 months prior to the first dose of study drug * Having taken any gene therapy * Other exclusion criteria may applyMALE2024-10-18T00:00:002019-08-152019-08-152023-10-252019-08-192023-10-272020-04-142023-10-192023-10-19TrueFalseThe main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.Duchenne Muscular DystrophyPHASE377TTSTANDChange in Time to Stand (TTSTAND)baseline to 48 weeks of treatmentTTRWChange in Time to Run/Walk 10 Meters Test (TTRW)baseline to 48 weeks of treatment6MWTChange in Six-minutes Walk Test (6MWT)baseline to 48 weeks of treatmentNSAAChange in North Star Ambulatory Assessment (NSAA) The NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.baseline to 48 weeks of treatmentTTCLIMBChange in Time to Climb 4 Steps Test (TTCLIMB)baseline to 48 weeks of treatmentHand-held dynamometerThe force generated for each muscle strength (elbow extension, elbow flexion, knee extension, and knee flexion on the dominant side only) will be measured by Hand-held dynamometer.baseline to 48 weeks of treatmentFalse47FalseFalseTrueFalse NCT05338099ENCell_2020_01ENCellINDUSTRYDetermine the Safety and Dose of EN001 in Patients With Duchenne Muscular Dystrophy(DMD)2024-08COMPLETEDOpen-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients with Duchenne Muscular Dystrophy(DMD)INTERVENTIONALInclusion Criteria: 1. Those aged 2 to 18 years old 2. Male 3. Those who are diagnosed with DMD due to a mutation in the dystrophin gene identified by a genetic test 4. Phenotypic evidence of DMD * Clinical signs or symptoms (proximal weakness, waddling gait, Gowers maneuver) * Elevated serum creatine kinase level 5. Those who have been using systemic corticosteroids at a stable dose for 24 weeks prior to screening and are expected to maintain the constant dose throughout the study period 6. Those who agree to use effective contraceptive measures until the short-term follow-up period of the clinical trial. In addition, their partner must also use a medically acceptable method of contraception (ie, oral contraceptives for women) for the same period. 7. Those who are willing to agree with the ICF and whose parent or representative is willing to provide written consent for the subject's participation in the clinical trial Exclusion Criteria: 1. Those who have clinical signs or symptoms of cardiomyopathy, defined as LVEF \<50% on echocardiography at screening 2. If ventilatory support is required during the day or if invasive mechanical ventilation via tracheostomy is used (Non-invasive ventilation such as positive pressure ventilation is allowed at night) 3. If hepatitis B core antibody and hepatitis C antibody are positive 4. If there is a history of major surgery within 12 weeks or it is expected during the study period 5. Those who have been exposed to gene therapy or genome editing within 24 weeks from the screening 6. Those who have experience with stem cell therapy 7. Those who have been administered Translarna granules (Ataluren) within 24 weeks from the screening 8. Those who are receiving treatment (other than corticosteroids) that may affect muscle strength or function within 12 weeks prior to screening 9. If laboratory test values are abnormal at the time of screening * Hemoglobin \<10 g/dL * Serum albumin \<2.5 g/dL * Platelet count \<50,000/ml * Abnormal GGT or total bilirubin (\>laboratory's upper limit of normal) * Abnormal renal function (Serum creatinine \>1.5 Times laboratory's upper limit of normal)" 10. Those with significant neuromuscular or genetic diseases other than DMD 11. Those with significant heart, lung, liver, kidney, hematological, immunological, behavioral disease, or other clinically significant diseases including malignant tumors 12. Those who have a previous or current medical condition that may adversely affect the safety of the subject, make it difficult to complete treatment, or affect the evaluation of clinical trial results at the discretion of the investigator 13. Those who do not have the will or ability to comply with clinical trial procedures at the discretion of the investigatorMALE2024-10-18T00:00:002022-01-062022-04-182024-08-282022-04-202024-08-302022-01-182022-12-282022-12-28FalseFalseOpen-label, Dose-escalation, Phase 1 Clinical Trial to Determine the Safety and Dose of EN001 in Patients with Duchenne Muscular Dystrophy(DMD)Duchenne Muscular DystrophyPHASE17Number of participants of any Adverse Events (AEs)/Serious Adverse Events (SAEs) related investigational productNumber of participants with treatment-related adverse events as assessed by CTCAE v5.0Week 12 after treatmentDetermination of Dose-limiting toxicity (DLT) levels of EN001Among the adverse events occurring for 2 weeks after administration of the investigational product, Grade 3 or higher adverse events according to CTCAE 5.0Up to Week 2 after dosing on Day 0Determination of Maximum tolerated dose (MTD) levels of EN001Among the adverse events occurring for 2 weeks after administration of the investigational product, Grade 3 or higher adverse events according to CTCAE 5.0 Maximum tolerated dose defines the evaluated maximum dose level in which greater than two participants of six participants experience Dose-limiting toxicity (DLT) under the dose level. The dose level where two participants of six participants experience DLT will be the maximum tolerated dose.Up to Week 2 after dosing on Day 0Number of participants with Vital Signs abnormalitiesVital Signs include blood pressure (mmHg), pulse (times/minute), respiratory rate (times/minute), and body temperature (℃) and will be assessed by CTCAE v 5.0 to evaluate safety and tolerability of EN001. The number of participants with at least one potentially clinically significant abnormal vital sign finding were reported as treatment emergent adverse events (TEAEs).Week 12 after screeningNumber of participants with clinically significant abnormalities of Physical ExaminationsPhysical Examinations include general appearance, head, ears/eyes/nose/throat, cardiovascular, respiratory, abdomen, skin, lymph nodes, extremities, musculoskeletal and neurologic and will be assessed by CTCAE v 5.0 to evaluate safety and tolerability of EN001. Number of participants with potentially clinically significant abnormalities in physical examinations were reported as TEAEs.From screening up to Week 12Number of participants with abnormalities of Laboratory ParametersLaboratory Parameters include hematology, chemistry laboratory tests, urinalysis, coagulation test and plasma viral load test and will be assessed by CTCAE 5.0 to evaluate safety and tolerability of EN001. Number of participants with at least one potentially clinically significant abnormal finding were reported as TEAEs.From screening up to Week 12Number of participants with abnormalities of 12-lead Electrocardiography (ECG)Categorical summarization ECG criteria were as follows: 1. QT interval, QTcB, QTcF and QTcP: increase from baseline \>30 millisecond \[ms\] or 60 ms; absolute value \> 450 ms, \>480 ms, and \> 500 ms; 2. heart rate (HR): change from baseline ≥20 beats per minute \[bpm\] and absolute value≤50 bpm or ≥120 bpm; 3. PR interval: absolute value ≥220 ms and increase from baseline≥20 ms; 4. QRS: ≥120 ms.From screening to baseline on Day 0 (Predose to end of infusion and 90 min after completion of infusion)Incidence of adverse events (AEs)Occurrence of any adverse reactions, development of new blood clots, tumors, immune responses (like autoimmune reactions) and death, and/or serious adverse events related investigational product will be summarized by actual treatment groups respectively.From screening to the end of treatment/withdrawal visit (up to approximately 5 years per subject)Number of participants with abnormalities of Vital Signs, Physical Findings, and Laboratory ParametersAbnormalities of Vital Signs, Physical Findings, and Laboratory parameters (as described above) will be collected and analyzed, and then assessed by CTCAE 5.0 to evaluate the long-term safety of EN001.From screening to the end of treatment/withdrawal visit (up to approximately 5 years per subject)Rate of change at the time of visit compared to baseline (percent [%]) in CK levelCreatinine kinase (CK) level will be collected and analyzed to evaluate the exploratory efficacy of EN001. - CK level(%) = (CK level after dosing - CK level in baseline)/(CK level in baseline)\*100From screening up to the end of support (up to approximately 5 years per subject at each visit)Change from baseline in Function testsFunction tests measured by North Star Ambulatory Assessment (NSAA), Six Minute Walk Test (6MWT), Myometry. and Lung capacity (and only K-Cross Motor Function Measure (KGMFM) will be performed under 5 years old) will be collected and analyzed to evaluate the exploratory efficacy of EN001. - Function tests = value in visit - value in baselineScreening and baseline on Day -1 (up to approximately 5 years per subject after Week 12)False218FalseFalseFalseFalse NCT06379906DMD, UE and BalanceHalic UniversityOTHERUpper Extremity Muscle Strength, Balance and Functional Skills in DMD2024-04COMPLETEDThis study aims to examine the relationship between upper extremity muscle strength, balance and functional skills of children with DMD.OBSERVATIONALInclusion Criteria: * diagnosed with DMD by a child neurologist and confirmed by genetic test results, * were at Level 1-4 according to Brooke Lower Extremity Functional Classification (able to ambulate independently and get up from a chair) * had cooperation with the researchers Exclusion Criteria: * had undergone a surgical operation in the last 6 months * had contractures that would affect functional activitiesMALE2024-10-18T00:00:002024-04-182024-04-182024-04-242024-04-232024-04-252023-11-102023-12-102024-03-10falseFalseFalseThis study aims to examine the relationship between upper extremity muscle strength, balance and functional skills of children with DMD.Duchenne Muscular Dystrophy32Upper Extremity Muscle Strength Measurementsone time (baseline)Trunk Control Measurement Scaleone time (baseline)Functional Reach Testone time (baseline)Timed Up & Go Testone time (baseline)Pediatric Evaluation of Disability Inventoryone time (baseline)False512FalseFalseFalseFalse NCT0237681614-00718Nationwide Children's HospitalOTHERClinical Intramuscular Gene Transfer Trial of rAAVrh74.MCK.Micro-Dystrophin to Patients With Duchenne Muscular Dystrophy2017-11COMPLETEDThe proposed phase I clinical trial is a pilot study to evaluate safety and biological activity of the rAAVrh74.MCK.micro-Dystrophin vector administered by an intramuscular route. This study will evaluated the micro-Dystrophin vector as a potential dystrophin replacement mechanism for Duchenne Muscular Dystrophy. Two cohorts will undergo gene transfer in a standard three-six dose escalation scheme to establish maximum tolerated dose (MTD) using toxicity. A minimum of three subjects will be enrolled into each cohort. The first cohort will receive a total dose of 3E11 vg. The second cohort will receive 1E12 vg total dose.INTERVENTIONALInclusion Criteria: * Age 7 or older; must be wheelchair-dependent * Confirmed Dystrophin mutations based on mutation compatibility with micro-dys cDNA based on previously published methods. * Males of any ethnic group will be eligible. * Ability to cooperate with muscle testing. * Willingness of sexually active subjects with reproductive capacity to practice reliable method of contraception (If appropriate). Exclusion Criteria: * Active viral infection based on clinical observations. * Symptoms or signs of cardiomyopathy, including: * Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs * Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis A, B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer. * Subjects with AAVrh74 binding antibody titers ≥ 1:50 as determined by ELISA immunoassay. * Abnormal laboratory values in the clinically significant range as defined in protocol or based upon normal values in the Nationwide Children's Hospital Laboratory.MALE2024-10-18T00:00:002015-02-262015-02-262017-11-212015-03-032017-11-242015-032017-092017-09trueThe proposed phase I clinical trial is a pilot study to evaluate safety and biological activity of the rAAVrh74.MCK.micro-Dystrophin vector administered by an intramuscular route. This study will evaluated the micro-Dystrophin vector as a potential dystrophin replacement mechanism for Duchenne Muscular Dystrophy. Two cohorts will undergo gene transfer in a standard three-six dose escalation scheme to establish maximum tolerated dose (MTD) using toxicity. A minimum of three subjects will be enrolled into each cohort. The first cohort will receive a total dose of 3E11 vg. The second cohort will receive 1E12 vg total dose.Duchenne Muscular DystrophyPHASE12Safety based on number of participants with adverse eventsAEs will be monitored and scored for severity and relatedness to the study article.2 yearsTransgene ExpressionBiologic activity of the vector will be measured by immunohistochemistry detection of dystrophin on muscle biopsies as compared to placebo treated controls.180 DaysFalse7FalseFalseFalseFalse NCT03789734BLS-M22-101BioLeaders CorporationINDUSTRYSafety Study of BLS-M22 in Healthy Volunteers2021-04COMPLETEDBLS-M22 is being developed as an anti-myostatin agent for the treatment of Duchenne Muscular Dystrophy (Muscular Dystrophy). A total of 37 subjects participated in this study to confirm the safety of BLS-M22.INTERVENTIONALInclusion Criteria: 1. Male and female subjects between 19-55 years of age 2. BMI: 19\~28kg/m2(male), 18\~25kg/m2(female) at screening test 3. Able to provide consent to participate and having signed an Informed Consent Form (ICF) 4. The subjects can obey the demands of the scheme Exclusion Criteria: 1. Subject has a clinically significant disease or history of liver, kidney, cardiovascular system, endocrine system, musculoskeletal system, digestive system, respiratory system, neuropsychiatry, blood∙tumor system. 2. Hypersensitive to the lactobacillus-containing food (such as yogurt) and the lactobacillus preparation and the investigational drug 3. Subject has received a investigational drug or a bioequivalence study drug within 90 days of the randomization 4. Subject has received steroids or other immunosuppressive drugs within 30 days of randomization 5. Positive serum test results for hepatitis C virus, hepatitis B virus, HIV or syphilis 6. Those who do not use of a medically acceptable method of contraception during the trial, or who plan to provide sperm 7. Pregnant women 8. Subject has genetic problems such as galactose intolerance, Lapp lactase deficiency or glucose-galactose malabsorption 9. Subject has abnormal clinical laboratory test results 10. Any other ineligible condition at the discretion of the investigator that would be ineligible to participate the studyALL2024-10-18T00:00:002018-12-122018-12-262021-04-212018-12-312021-04-222019-06-042020-04-232020-11-27FalseFalseBLS-M22 is being developed as an anti-myostatin agent for the treatment of Duchenne Muscular Dystrophy (Muscular Dystrophy). A total of 37 subjects participated in this study to confirm the safety of BLS-M22.Muscular Dystrophy, DuchennePHASE137Adverse eventsNumber of participants with treatment-related adverse events as assessed by CTCAE v4.0up to 4-5 weeksAUClastEvaluation of the pharmacokinetic properties after administration of BLS-M22From 0 hours to 24 hoursImmunogenicity(Myostatin specific IgG level in serum)Evaluation of the immunogenicity after administration of BLS-M22up to 4-5 weeksTrue1955FalseFalseFalseFalse NCT00893334IRB#4463Cooperative International Neuromuscular Research GroupNETWORKEvaluation of Limb-Girdle Muscular Dystrophy2014-03COMPLETEDThe purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.OBSERVATIONALInclusion Criteria: * 18 years of age or older. * Diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD as determined by muscle biopsy immunohistochemistry, immunoblotting, or molecular analysis. * Able to travel to study site * Normal controls will be recruited as either friends of the study participants or through separate recruitment. Exclusion Criteria: * Unable to travel to study site. * Do not have the diagnosis of LGMD2I, LGMD2A, LGMD2B, or BMD after review of clinical testing.ALL2024-10-18T00:00:002009-05-042009-05-052014-03-062009-05-062014-03-072009-042013-122013-12trueThe purpose of this study is to understand the biochemistry of different types of Limb-Girdle Muscular Dystrophy (LGMD) and to determine appropriate outcome measures for future clinical treatment trials for LGMD. It is being conducted at two sites in the Cooperative International Neuromuscular Research Group (CINRG). It involves a one day clinical evaluation at a participating institution that will take approximately four to six hours, and will involve strength testing and muscle functional testing by a physical therapist, an evaluation by a physician, pulmonary function testing, a complete cardiac evaluation with electrocardiogram (ECG or EKG) and echocardiogram (Echo), and involve two blood draws, one before the evaluation and one after the evaluation is complete. During the visit, the participant will be asked to fill out a couple of questionnaires asking questions about quality of life and activity limitations, as well as his/her understanding of their diagnosis with regards to etiology (or cause of their muscle disorder), genetics, and inheritance of their muscle disorder.Becker Muscular Dystrophy;Limb-Girdle Muscular Dystrophy, Type 2A (Calpain-3 Deficiency);Limb-Girdle Muscular Dystrophy, Type 2B (Miyoshi Myopathy, Dysferlin Deficiency);Limb-Girdle Muscular Dystrophy, Type 2I (FKRP-deficiency)60The measurement of growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) between the different types of LGMD and BMD.12 monthsThe difference in the growth factors (TGF-B, IGF-II) and cytokines (IL18, IL1A, and IL1B) pre-evaluation and post-evaluation.12 monthsEvaluation of surrogate and clinically relevant outcome measures in LGMD.24 monthsQuality of life questionnaires to correlate patient- perceived limitations in daily activities with the quantitative strength measurements and functional ability with timed testing.24 monthsEvaluation of patient understanding in their diagnosis and genetic etiology of their diagnosis.24 monthsTrue18FalseFalseFalseFalse NCT02891434248/15University of Sao PauloOTHERAnalysis of a Virtual Reality Task in Patients With Duchenne Muscular Dystrophy2017-04COMPLETEDThe task consists in reach as much bubbles as they can, the bubbles appear on the screen of the computer and should be reached in 10 seconds. To accomplish that, three different devices will be used: (1) Kinect for Windows Microsoft - which consists of a sensor that captures body movements (including upper limbs). And (2) the Leap Motion (LMCH, Leap Motion, Inc., San Francisco, CA, USA), and (3) Touch Screen. To describe motor impairments was used the Motor Function Measure Scale; Scale Vignos and Scale Egen Klassifikation;INTERVENTIONALInclusion Criteria: * diagnosis of DMD. Exclusion Criteria: * presence disorders in cognitive function that would prevent comprehension of the experimental instruction.MALE2024-10-18T00:00:002016-08-172016-08-312017-04-082016-09-072017-04-112016-022016-102016-12falseThe task consists in reach as much bubbles as they can, the bubbles appear on the screen of the computer and should be reached in 10 seconds. To accomplish that, three different devices will be used: (1) Kinect for Windows Microsoft - which consists of a sensor that captures body movements (including upper limbs). And (2) the Leap Motion (LMCH, Leap Motion, Inc., San Francisco, CA, USA), and (3) Touch Screen. To describe motor impairments was used the Motor Function Measure Scale; Scale Vignos and Scale Egen Klassifikation;Duchenne Muscular DystrophyNA120Motor performance improvement in a virtual Timing Coincident task, with better performance on the LeapMotion compared to TouchScreen and Kinect.Analysis of the motor performance using a virtual Coincident timing task in different devices to compare wether a task with or without contact promote better performance for people with Duchenne Muscular Dystrophy3 monthsTrue934FalseFalseFalseFalse NCT03777319IRB17-00240Nationwide Children's HospitalOTHERSpironolactone Versus Prednisolone in DMD2023-10TERMINATEDThis is a randomized, open-label, pilot clinical trial of spironolactone suspension versus oral prednisolone for use in Duchenne muscular dystrophy. The goals are to determine the safety of 6 months of treatment with spironolactone treatment int he steroid-naive DMD population as well as to determine if either spironolactone or a standard clinical dose of corticosteroids results in equivalent improvement in time to complete the 100 meter timed test (100M).INTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy (DMD) patients ≥4 to ≤7 years of age * Clinical features of DMD that include proximal predominant weakness and/or gait disturbance * Presence of a truncating mutation of the DMD gene in the patient or an affected male relative OR a muscle biopsy that demonstrates \<5% dystrophin in the patient or an affected male relative * Normal left ventricular ejection fraction by screening echocardiogram * Ability to cooperate for testing * No prior treatment with glucocorticoids or vamorolone * No concomitant experimental therapies Exclusion Criteria: * Subject amenable to or currently being treated with eteplirsen, casimersen, or viltolarsen * Hyperkalemia at screening * History of or ongoing renal failure (elevated creatinine, oliguria, anuria) * Hypersensitivity to spironolactone (rash, respiratory distress, arrhythmia, numbness or tingling of extremities) * Current treatment with an ACEi * Severe peptic ulcer disease or recent gastrointestinal perforationsMALE2024-10-18T00:00:002018-12-102018-12-132023-10-202018-12-172023-10-232018-12-052021-09-272021-11-30trueTrueFalseThis is a randomized, open-label, pilot clinical trial of spironolactone suspension versus oral prednisolone for use in Duchenne muscular dystrophy. The goals are to determine the safety of 6 months of treatment with spironolactone treatment int he steroid-naive DMD population as well as to determine if either spironolactone or a standard clinical dose of corticosteroids results in equivalent improvement in time to complete the 100 meter timed test (100M).Muscular Dystrophy, DuchennePHASE12Efficacy: Change in Time to Complete a 100 Meter Timed Test.The determination of whether spironolactone has similar efficacy to glucocorticoids in improving muscle strength in steroid naïve DMD patients. This will be determined by measuring the time to complete a 100 meter timed test (100M).6 monthsSafety Will be Monitored Through Regular Review of Electrolytes.Electrolytes (Sodium, Potassium, Cloride and Carbon dioxide, mmol/L) will be measured on a monthly basis following initiation of either spironolactone or prednisolone.6 monthsEfficacy: Dynamometry ScoreSecondary outcome measures will be Dynamometry score, which is a summation of maximum voluntary isometric contraction test values for knee flexion, knee extension, elbow flexion, and elbow extension6 monthsFalse47TrueFalseFalseFalse NCT022555524658-301Sarepta Therapeutics, Inc.INDUSTRYStudy of Eteplirsen in DMD Patients2020-12COMPLETEDThe main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).INTERVENTIONALInclusion Criteria: * Male 7-16 years old * Diagnosed with DMD, genotypically confirmed * Stable dose of corticosteroids for at least 24 weeks * Have intact right and left alternative upper muscle groups * Mean 6MWT greater than 300m (primary analysis on 300 to 450 meters) * Stable pulmonary and cardiac function: predicted FVC equal to or greater than 50% and LVEF of greater than 50% Exclusion Criteria: * Previous treatment with drisapersen or any other RNA antisense agent or any gene therapy within the last 6 months * Participation in any other DMD interventional clinical study within 12 weeks * Major surgery within 3 months * Presence of other clinically significant illness * Major change in the physical therapy regime within 3 months Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002014-09-252014-09-292020-12-312014-10-022021-01-252014-11-172019-06-142019-06-14falseThe main objective of this study is to provide evidence of efficacy of eteplirsen (AVI-4658) in Duchenne muscular dystrophy (DMD) patients that are amenable to skipping exon 51. Additional objectives include evaluation of safety, biomarkers and the long-term effects of eteplirsen up to 96 weeks, followed by a safety extension (not to exceed 48 weeks).Duchenne Muscular Dystrophy (DMD)PHASE3109Change From Baseline in the 6 Minute Walk Test (6MWT) Distance at Week 966MWT was performed by standardized procedures for all participants. Participants were asked to walk a set course of 25 meters for 6 minutes (timed), and the distance walked (in meters) was recorded. Change from baseline in 6MWT distance at Week 96 was reported.Baseline, Week 96Change From Baseline in Dystrophin Protein Levels Determined by Western Blot at Week 96Change from baseline in dystrophin protein levels (in muscle biopsy samples) were determined by Western blot. For each time point, 2 blocks of tissues were analyzed by Western blot, each with 2 replicates of gels to determine the dystrophin level as compared to a healthy individual (Percent Normal). The block average value from 2 replicate gels was computed. The overall average was calculated as the mean of the block average values. The overall average values were used for all analyses. In case only 1 gel was available for a block, then that value was used as the block average value.Baseline, Week 96Number of Participants Having Ability to Rise Independently From the Floor Determined Based on North Star Ambulatory Assessment (NSAA) at Week 96NSAA is a clinician-administered scale that rates participant performance on 17-items and included assessments of abilities such as 10-meter walk/run, rising from a sit to stand, standing on 1 leg, climbing a box step, descending a box step, rising from lying to sitting, rising from the floor, lifting the head, standing on heels, and jumping. For all activities, participants were graded as follows: 0 = unable to achieve goal independently; 1 = modified method but achieves goal independent of physical assistance from another and 2 = normal, no obvious modification of activity. Number of participants having ability to rise independently from the floor indicated by a NSAA Rise from floor sub score greater than 0 (unable to achieve goal independently) was reported.Week 96Number of Participants Who Lost Ambulation (LOA) by Week 96Number of participants who lost ambulation (LOA) by Week 96 was reported. Participant were considered non-ambulatory if each of the 3 conditions below were met: NSAA walk subscore was "0" (unable to achieve goal independently) on 2 consecutive days within a visit or NSAA was not done due to reason related to non-ambulation; 6MWT was not done with any reason related to permanent non-ambulation; and no later data showing this participant was still ambulatory. This was not required if non ambulatory status occurred at the time of early withdrawal or at the end of Week 96 assessment. NSAA is a 17-item scale to assess the participant's abilities; total score range from 0 (if all the activities are failed) to 34 (if all the activities are achieved) with higher scores indicating better performance on the assessment/ fully-independent function.Up to Week 96Change From Baseline in Forced Vital Capacity Percent (FVC%) Predicted at Weeks 96FVC is the total amount of air exhaled during the forced expiratory volume test that is measured during spirometry; and is the most important measurement of lung function. This test requires participant to breath into a tube connected to a machine that measures the amount of air that can be moved in and out of the lungs after taking an inhaled bronchodilator medicine which is used to dilate participant's bronchial (breathing) tubes. Percent of predicted FVC = (observed value) / (predicted value) \* 100%.Baseline, Week 96Change From Baseline in North Star Ambulatory Assessment (NSAA) Total Scores at Week 96NSAA is a clinician-administered scale that rates participant performance on 17-items and included assessments of abilities such as 10-meter walk/run, rising from a sit to stand, standing on 1 leg, climbing a box step, descending a box step, rising from lying to sitting, rising from the floor, lifting the head, standing on heels, and jumping. Participant were graded as follows: 0 = unable to achieve goal independently; 1 = modified method but achieves goal independent of physical assistance from another and 2 = normal, no obvious modification of activity. NSAA total score was derived by summing the scores for all the individual items and range from 0 (if all the activities are failed) to 34 (if all the activities are achieved) with higher scores indicating better performance on the assessment/ fully-independent function.Baseline, Week 96Change From Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Week 96Change from baseline in dystrophin intensity levels (in muscle biopsy samples) was determined by Immunohistochemistry.Baseline, Week 96False716TrueFalseFalseFalse NCT03769116SRP-9001-102Sarepta Therapeutics, Inc.INDUSTRYA Randomized, Double-blind, Placebo-controlled Study of Delandistrogene Moxeparvovec (SRP-9001) for Duchenne Muscular Dystrophy (DMD)2023-10COMPLETEDThe purpose of this study is to evaluate the safety and efficacy of exogenous gene transfer in DMD participants by measuring biological and clinical endpoints in three parts: two 48-week randomized, double-blinded, placebo-controlled periods (Part 1 and Part 2), and an open-label follow-up period (Part 3). Participants who are randomized to placebo in Part 1 will have the opportunity for treatment with delandistrogene moxeparvovec in Part 2. In order to provide a uniform approach to monitoring long-term safety and efficacy in participants who received SRP-9001 in a clinical trial, the Sponsor has amended Study Completion for this study to occur at Week 130. Therefore, participants have transitioned and will complete the remainder of the Part 3 follow up visits in a long-term extension study, SRP-9001-305 (NCT05967351).INTERVENTIONALInclusion Criteria: * Established clinical diagnosis of DMD and documented dystrophin gene mutation of DMD phenotype. * Indication of symptomatic muscular dystrophy by protocol-specified criteria. * Ability to cooperate with motor assessment testing. * Stable dose equivalent of oral corticosteroids for at least 12 weeks. * A frameshift mutation contained between exons 18 and 58 (inclusive). Exclusion Criteria: * Impaired cardiovascular function on echocardiogram. * Prior or ongoing medical condition on physical examination, electrocardiogram, or laboratory findings that could adversely affect participant safety, compromise completion of follow-up, or impair assessment of study results. * Exposure to another investigational drug or exon skipping medication within 6 months of screening. * Exposure to an investigational or commercial gene therapy product. * Abnormal liver or renal function by protocol-specified criteria. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002018-12-062018-12-062023-10-102018-12-072023-10-252018-12-052020-12-082023-08-16trueTrueFalseThe purpose of this study is to evaluate the safety and efficacy of exogenous gene transfer in DMD participants by measuring biological and clinical endpoints in three parts: two 48-week randomized, double-blinded, placebo-controlled periods (Part 1 and Part 2), and an open-label follow-up period (Part 3). Participants who are randomized to placebo in Part 1 will have the opportunity for treatment with delandistrogene moxeparvovec in Part 2. In order to provide a uniform approach to monitoring long-term safety and efficacy in participants who received SRP-9001 in a clinical trial, the Sponsor has amended Study Completion for this study to occur at Week 130. Therefore, participants have transitioned and will complete the remainder of the Part 3 follow up visits in a long-term extension study, SRP-9001-305 (NCT05967351).Muscular Dystrophy, DuchennePHASE1PHASE241Change From Baseline at Week 12 in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression as Measured by Western Blot Adjusted by Muscle ContentChange from baseline in delandistrogene moxeparvovec dystrophin protein levels (in muscle biopsy samples) were determined by Western blot at Week 12. For this endpoint, 2 blocks of tissues were analyzed by Western blot, each with 2 technical replicates to determine the delandistrogene moxeparvovec dystrophin protein level as compared to a healthy individual (Percent Normal). The block average value from 2 technical replicates was computed. The overall average was calculated as the mean of the block average values. The overall average values were used for the analysis. Dystrophin protein measured and then adjusted based on the percentage of muscle content in the biopsy sample. An increase in protein expression indicates production of the delandistrogene moxeparvovec dystrophin protein.Baseline, Week 12 (Part 1)Change From Baseline at Week 48 in North Star Ambulatory Assessment (NSAA) Total ScoreThe NSAA is a healthcare provider administered scale that rates performance of various motor abilities in ambulant children with Duchenne Muscular Dystrophy and is used to monitor disease progression and treatment effects. During assessment, participants are asked to perform 17 different functional activities that are graded as: 2 - "Normal" - no obvious modification of activity; 1 - Modified method but achieves goal independent of assistance; 0 - Unable to achieve independently. The NSAA total score is defined as the sum of all 17 items, ranging from 0 (worst) to 34 (best). The response vector consists of the change from baseline in NSAA total score at the post-baseline visit. The model includes the covariates of treatment group, visit, treatment group by visit interaction, age group, baseline NSAA total score, and baseline NSAA total score by visit interaction. All covariates are fixed effects in this analysis. An increase in score indicates an improvement in motor function.Baseline, Week 48 (Part 1)False47TrueFalseFalseFalse NCT0199907512/26EChildren's Hospital of Eastern OntarioOTHERStacking Exercises Aid the Decline in FVC and Sick Time2018-12COMPLETEDDuchenne Muscular Dystrophy is complicated by weak breathing muscles and lung infections. "Lung volume recruitment" is a technique performed using a face mask or mouthpiece and a hand-held resuscitation bag to stack breaths, inflate the lungs and help clear the airways of secretions by increasing the forcefulness of a cough. We believe this will slow down the steady loss of lung function, prevent lung infection, and improve quality of life. Our aim is to compare the outcome of a group of individuals with DMD treated with standard care to another group that also receives lung volume recruitment. If effective, this study will change clinical practice by including twice-daily treatment as part of the standard of care for individuals with DMD, in order to improve their lung health and quality of life.INTERVENTIONALInclusion Criteria: * Age 6-16 years - This age range was selected as there are accepted normative pulmonary function data and children 6 years of age and older are generally able to reliably perform pulmonary function tests. Children are followed in participating centres until they reach 18 years of age (allowing two years of follow-up). * Clinical phenotypic features consistent with DMD and confirmed by either: (1) Muscle biopsy showing complete dystrophin deficiency; (2) Genetic test positive for deletion or duplication in the dystrophin gene resulting in an 'out-of-frame' mutation; or (3) Dystrophin gene sequencing showing a mutation associated with DMD. * FVC ≥ 30% predicted - This range of pulmonary function was selected to exclude those with severe restrictive respiratory impairment, who are less likely to be able to reliably perform pulmonary function testing over a two year period. * A caregiver willing to provide the therapy * Fluency in English or French Exclusion Criteria: * Unable to perform pulmonary function tests and/or LVR manoeuvre * Presence of an endotracheal or tracheostomy tube * Already using LVR and/or the Respironics in-exsufflator between and during respiratory infections * Known susceptibility to pneumothorax or pneumomediastinum * Uncontrolled asthma or other obstructive lung disease * Symptomatic cardiomyopathy (ejection fraction less than 50% )ALL2024-10-18T00:00:002013-11-142013-11-252018-12-212013-12-032018-12-242013-032018-11-222018-11-22trueDuchenne Muscular Dystrophy is complicated by weak breathing muscles and lung infections. "Lung volume recruitment" is a technique performed using a face mask or mouthpiece and a hand-held resuscitation bag to stack breaths, inflate the lungs and help clear the airways of secretions by increasing the forcefulness of a cough. We believe this will slow down the steady loss of lung function, prevent lung infection, and improve quality of life. Our aim is to compare the outcome of a group of individuals with DMD treated with standard care to another group that also receives lung volume recruitment. If effective, this study will change clinical practice by including twice-daily treatment as part of the standard of care for individuals with DMD, in order to improve their lung health and quality of life.Duchenne Muscular DystrophyPHASE470Relative decline in FVC (%-predicted) over 2 years, measured according to American Thoracic Society (ATS) standards, using the Stanojevic normative equations.Relative decline in FVC (%-predicted) was chosen as the primary outcome as it is a strong predictor of subsequent respiratory failure and mortality. Although survival is not a realistic endpoint for this trial, given expected mortality is less than 5% for the pediatric age group, FVC decline is an appropriate clinical laboratory measure and valid surrogate endpoint to use for this trial.2 yearsTime to FVC decline of 10% of predicted.2 yearsTotal number and duration of outpatient oral antibiotic courses, hospital and ICU admissions for respiratory exacerbations over 2 years2 yearsHealth-related quality of life over 2 yearsMeasured biannually with PedsQL 4.0, Pediatric Quality of Life Inventory2 yearsChange in unassisted peak cough flow (PCF), maximal insufflation capacity (MIC), maximum inspiratory and expiratory pressures (MIP, MEP), as well as MIC and PCF with LVR, over 2 years2 yearsFalse616FalseFalseFalseFalse NCT01957059PRO053-CLIN-01BioMarin PharmaceuticalINDUSTRYA Phase I/II Study of BMN053 in Subjects With Duchenne Muscular Dystrophy (DMD)2017-12TERMINATEDThe purpose of the study is to see whether BMN053 is safe and effective to use as medication for Duchenne muscular dystrophy (DMD) patients with a mutation around location 53 in the DNA for the dystrophin protein.INTERVENTIONALInclusion Criteria: 1. Duchenne muscular dystrophy resulting from a mutation correctable by treatment with BMN053 confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or HRMCA (High-Resolution Melting Curve Analysis). 2. Ambulant boys aged at least 5 years on the day of first dosing able to walk for at least 300 metres in the 6 minute walking distance (6MWD) test. In addition, results of the 6MWD test must be within ±30 metres of each other at 2 of 3 pre-treatment visits (screen 1, 2 and baseline) prior to first BMN053 administration. 3. Adequate quality for biopsy (confirmed with MRI) of the lateral head of the gastrocnemius muscle. Only under exceptional circumstances will an alternative muscle (preferably brachii) be considered for biopsy and only following discussion between the Principal Investigator and the BioMarin Medical Monitor. 4. Life expectancy of at least 3 years after inclusion in the study. 5. Glucocorticosteroid use which is stable for at least 3 months prior to first BMN053 administration. Subjects must have been receiving glucocorticosteroids for at least 6 months prior to the first BMN053 administration. 6. Willing and able to adhere to the study visit schedule and other protocol requirements. 7. Written informed consent signed (by parent(s)/legal guardian and/or the subject, according to the local regulations). 8. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category. 9. Anticipated adequate vein access for intravenous (IV) infusion. Exclusion Criteria: 1. Current or history of liver disease or impairment. 2. Current or history of renal disease or impairment. 3. At least two aPTT above upper limit of normal (ULN) within the last month prior to first dose of BMN053. 4. Screening platelet count below the lower limit of normal (LLN). 5. Acute illness within 4 weeks prior to first dose of BMN053 which may interfere with the study assessments. 6. Severe mental retardation and/or behavioural problems which, in the opinion of the Investigator, prohibit participation in this study. 7. Severe cardiomyopathy which, in the opinion of the Investigator prohibits participation in this study. If a subject has a left ventricular ejection fraction \<45% at screening, the Investigator should discuss inclusion of the subject with the Medical Monitor. 8. Expected need for daytime mechanical ventilation within the next year. 9. Use of anticoagulants, antithrombotics or antiplatelet agents. 10. Use of idebenone or other forms of coenzyme Q10 within 1 month prior to the start of the screening for the study. 11. Use of nutritional or herbal supplements which, in the opinion of the Investigator, may influence muscle performance within 1 month prior to first dose of BMN053. 12. Use of any other investigational product or participation in another trial with an investigational product, within 6 months prior to the start of the screening for the study.MALE2024-10-18T00:00:002013-07-022013-10-072017-12-062013-10-082017-12-082013-062016-08-032016-08-03trueThe purpose of the study is to see whether BMN053 is safe and effective to use as medication for Duchenne muscular dystrophy (DMD) patients with a mutation around location 53 in the DNA for the dystrophin protein.Duchenne Muscular DystrophyPHASE1PHASE29Change from baseline in 6 minute walk testafter 48 weeks of treatment phaseMuscle functionafter 48 weeks treatment phaseMuscle strengthafter 48 weeks treatment phasePulmonary functionafter 48 weeks treatment phaseFunctional outcomes questionnaireafter 48 weeks treatment phaseAdverse Eventsafter single intravenous and subcutaneous doses, and after 48 weeks of treatment phaseSafety Laboratoryafter single intravenous and subcutaneous doses, and after 48 weeks of treatment phaseCardiac functionafter single intravenous and subcutaneous doses, and after 48 weeks of treatment phasePharmacokinetic parameters at different dose levelsafter single intravenous and subcutaneous doses, and after 48 weeks of treatment phasePresence of (BMD-like) dystrophin expression in muscle biopsyafter 48 weeks treatment phaseProduction of exon skip 53 mRNA in muscle biopsyafter 48 weeks treatment phaseFalse518TrueFalseFalseFalse NCT06304064CAP-1002-DMD-03Capricor Inc.INDUSTRYHalt cardiomyOPathy progrEssion in Duchenne (HOPE-OLE)2024-03COMPLETEDThis Phase 2, multi-center, open-label extension trial will provide CAP-1002 to participants who were randomized to the Usual Care treatment group of the HOPE-Duchenne study (NCT02485938) and completed 12 months of follow-up. The trial will assess the safety and efficacy of two intravenous administrations of CAP-1002, each separated by three months.INTERVENTIONALInclusion Criteria: 1. Documented enrollment in the Usual Care Treatment Group of the HOPE-Duchenne trial and completion of trial follow-up through Month 12. 2. Willing and able to provide informed consent to participate in the trial if greater than or equal to (\>=) 18 years of age, and assent with parental or guardian informed consent if less than (\<) 18 years of age. 3. Adequate venous access for intravenous CAP-1002 infusions and routine blood collections in the judgement of the Investigator. 4. Assessed by the Investigator as willing and able to comply with the requirements of the trial. Exclusion Criteria: 1. Left ventricular ejection fraction (LVEF) \< 35 percent (%) within 6 months of screening. 2. Planned or likely major surgery in the next 6 months after planned first infusion. 3. Risk of near-term respiratory decompensation in the judgment of the investigator, or the need for initiation of non-invasive ventilator support as defined by serum bicarbonate \>= 29 millimoles per liter (mmol/L) at screening. 4. History of non DMD-related chronic respiratory disease including, but not limited to, asthma, bronchitis, and tuberculosis. 5. Acute respiratory illness within 30 days prior to screening. 6. Known hypersensitivity to dimethyl sulfoxide (DMSO) or bovine products. 7. Treatment with investigational product \<= 6 months prior to first infusion. 8. History, or current use, of drugs or alcohol that could impair ability to comply with participation in the trial. 9. Inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigator.MALE2024-10-18T00:00:002024-03-052024-03-052024-03-292024-03-122024-04-242018-06-212019-03-062019-03-06trueTrueFalseThis Phase 2, multi-center, open-label extension trial will provide CAP-1002 to participants who were randomized to the Usual Care treatment group of the HOPE-Duchenne study (NCT02485938) and completed 12 months of follow-up. The trial will assess the safety and efficacy of two intravenous administrations of CAP-1002, each separated by three months.Duchenne Muscular DystrophyPHASE28Number of Participants Experiencing Acute Respiratory DecompensationAcute respiratory decompensation is defined as an unexplained rapid deterioration of the participant's condition with increasing shortness of breath requiring oxygen supplementation. Acute respiratory decompensation within 2 hours following investigational product (IP) administration will be reported.2 hours post-dose on Day 1 and Month 3Number of Participants With Hypersensitivity ReactionsHypersensitivity reaction is defined as a clinical syndrome including, but not limited to, fever, leukocytosis, or rash with onset \<= 2 hours post-infusion and lasting \< 24 hours, in the absence of clinical signs of concomitant infection.From Day 1 up to Month 6All-cause MortalityNumber of deaths due to any cause will be reported.From Day 1 up to Month 6Number of Treatment-emergent Adverse Events (TEAEs) Related to Investigational Product or Administration and Serious Adverse Events (SAEs)An adverse events (AEs) is any untoward medical occurrence associated with the use of a drug in humans, whether or not considered drug related. TEAEs are defined as AEs occurring after the initiation of the IV catheter placement for the initial dose of IP. TEAEs related to investigational product or administration are reported for this outcome measure. A SAE is defined as an AE that results in any of the following outcomes: Death; life-threatening adverse event; Inpatient hospitalization or prolongation of existing hospitalization; persistent or significant incapacity or substantial disruption of the ability to conduct normal life functions; congenital anomaly/birth defect.From Day 1 up to Month 6Number of Participants With Immune Sensitization SyndromeImmune sensitization syndrome shall be defined as: (a) clinical signs and symptoms consistent with systemic inflammation (e.g., fever, leukocytosis, rash, or arthralgia) with onset \>= 24 hours post infusion and the absence of clinical signs of concomitant infection, and (b) elevation of anti-human leukocyte antigen (HLA) antibodies against the donor cells (i.e., DSAs), detected \<= 30 days following onset of syndrome, of (i) \>= 2000 mean fluorescent intensity (MFI) if baseline MFI \<= 1000, or (ii) \>= 2 times baseline otherwise.From Day 1 up to Month 6False12FalseFalseFalseFalse NCT00296621P030420Assistance Publique - Hôpitaux de ParisOTHEREffect of Oral Glutamine on Muscle Mass and Function in Duchenne Muscular Dystrophy2007-12COMPLETEDThe purpose of this study is to determine whether long-term oral glutamine supplementation is effective in improving muscle mass and function in children with Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Clinical diagnosis of Duchenne muscular dystrophy * Able to walk \>170 m * Absence of hepatic insufficiency * Absence of renal insufficiency Exclusion Criteria: * Dependent upon wheelchair * Body weight \>60kg * Liver failure * Kidney failure * Surgery scheduled during the year following the first visitMALE2024-10-18T00:00:002006-02-232006-02-232007-12-202006-02-272007-12-212006-022008-022007-11falseThe purpose of this study is to determine whether long-term oral glutamine supplementation is effective in improving muscle mass and function in children with Duchenne muscular dystrophy (DMD).Muscular Dystrophy, DuchennePHASE230walking speed at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthswork (kcal) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthspower (kcal/s) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 months2-minute walk test at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthsbody composition (bioelectrical impedance analysis) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthsbody composition (BIPHOTONIC absorptiometry) at 4,9 monthsat 4,9 monthsmuscle mass (24-h urinary creatinine excretion) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthsindices of protein degradation (CPK and 3-methyl histidine excretion) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthsbiochemical parameters (electrolytes, fasting glucose, transaminases, insulin, IgfI, Igf-BP3) at 0,2,4,5,7,9 monthsat 0,2,4,5,7,9 monthsFalseFalseFalseFalseFalse NCT03375164SRP-9001-101Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy Study to Evaluate the Safety of Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)2024-04COMPLETEDThis study was an open-label single-dose gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec intravenous (IV) administration in boys with DMD. This study was originally designed to consist of 12 patients across 2 Cohorts. Cohort A would have included participants ages 3 months to 3 years, and Cohort B included participants ages 4 to 7 years old. No participants were enrolled in Cohort A.INTERVENTIONALInclusion Criteria: * Cohort A participants: 3 months to 3 years of age, inclusive * Cohort B participants: 4 to 7 years of age, inclusive * Definitive diagnosis of DMD based on documented clinical findings and prior genetic testing. * Ability to cooperate with motor assessment testing. * Cohort A participants: No previous treatment with corticosteroids. * Cohort B participants: Stable dose equivalent of oral corticosteroids for at least 12 weeks prior to screening and the dose is expected to remain constant (except for potential modifications to accommodate changes in weight) throughout the first year of the study. * Cohorts A \& B: A frameshift mutation contained between exons 18 and 58 (inclusive). Exclusion Criteria: * Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression within protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. * Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer. Other inclusion or exclusion criteria could apply.MALE2024-10-18T00:00:002017-12-042017-12-142024-04-242017-12-152024-05-232018-01-042023-04-252023-04-25trueTrueFalseThis study was an open-label single-dose gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec intravenous (IV) administration in boys with DMD. This study was originally designed to consist of 12 patients across 2 Cohorts. Cohort A would have included participants ages 3 months to 3 years, and Cohort B included participants ages 4 to 7 years old. No participants were enrolled in Cohort A.Duchenne Muscular DystrophyPHASE1PHASE24Number of Participants With Adverse Events (AEs)An AE is any untoward medical occurrence in a clinical study participant that does not necessarily have a causal relationship with the study drug. An AE can, therefore, be any unfavorable and unintended symptom, sign, disease, condition, or test abnormality that occurs during or after administration of a study drug, whether or not considered related to the study drug. A summary of serious and all other non-serious adverse events regardless of causality is located in the Reported Adverse Events module.Up to 5 yearsChange From Baseline at Day 90 in Delandistrogene Moxeparvovec Dystrophin Expression as Measured by Western BlotBaseline muscle biopsies with ultrasound guidance were performed pre-treatment and post-treatment (Day 90) on all participants. The change from baseline in delandistrogene moxeparvovec dystrophin protein levels in these muscle biopsy samples was determined by Western blot. An increase in protein expression indicates production of the delandistrogene moxeparvovec dystrophin protein.Baseline, Day 90Change From Baseline at Day 90 in Delandistrogene Moxeparvovec Dystrophin Expression as Measured by Immunofluorescence (IF) Fiber IntensityBaseline muscle biopsies with ultrasound guidance were performed pre-treatment and post-treatment (Day 90) on all participants. The change from baseline in delandistrogene moxeparvovec dystrophin expression in these muscle biopsy samples was determined using IF. Automated software was used to quantify the intensity of dystrophin expression post-treatment compared to pre-treatment (Percent Normal). The number of muscle fibers expressing micro-dystrophin was quantified by independent trained evaluators. An increase in IF fiber intensity indicates increased delandistrogene moxeparvovec dystrophin expression.Baseline, Day 90Change From Baseline at Day 90 in Delandistrogene Moxeparvovec Dystrophin Expression as Measured by IF Percent Dystrophin Positive Fibers (PDPF)Baseline muscle biopsies with ultrasound guidance were performed pre-treatment and post-treatment (Day 90) on all participants. The change from baseline in delandistrogene moxeparvovec dystrophin expression in these muscle biopsy samples was determined by IF PDPF. Automated software was used to quantify the intensity of dystrophin expression post-treatment compared to pre-treatment (Percent Normal). The number of muscle fibers expressing micro-dystrophin was quantified by independent trained evaluators. An increase in IF PDPF indicates increased delandistrogene moxeparvovec dystrophin expression.Baseline, Day 90Change From Baseline at Year 5 in the 100 Meter Timed TestThis assessment measures the time needed to move 100 meters and served as the primary motor outcome measure for this study. A decrease in the time needed to move 100 meters indicates increased motor function.Baseline, Year 5False37TrueFalseFalseFalse NCT02037243PR-11024International Centre for Diarrhoeal Disease Research, BangladeshOTHERDisgust and Shame Based Safe Water and Handwashing Promotion2014-01COMPLETEDAn estimated 2.2 million children under the age of 5 years die from diarrheal disease each year. Most of the burden of diarrheal disease is thought to be preventable with improvements in sanitation, water quality, and hygiene. Large scale interventions promoting these behaviours have either not been rigorously tested or have not produced sufficient change to warrant being rolled out at scale. Research into the determinants of hand washing behaviour has identified disgust and shame as key motivators. Evidence supports the theory that disgust is a natural behavioural reaction to objects carrying disease risk, thus it may act as a key motivator for other health related behaviours such as water treatment. Whether this knowledge can be harnessed to increase the efficacy of hand washing and safe water campaigns in Bangladesh or elsewhere has yet to be rigorously tested. The investigators will develop an intervention that utilizes disgust and shame eliciting messages to promote hand washing with soap and point of use water treatment in low income housing compounds of urban Dhaka. The investigators will test the efficacy of this intervention against a more traditional public health intervention based on increasing knowledge of health risks and germ transmission using a randomized controlled trial. The study sample will be broken into the following four arms. 1. Standard Public Health Intervention with Water Treatment 2. Standard Public Health Intervention with Water Treatment \& Hand Washing 3. Disgust and Shame Based Intervention with Water Treatment 4. Disgust and Shame Based Intervention with Water Treatment \& Hand This design will allow us to compare outcomes for hand washing and water treatment between both standard public health interventions and disgust and shame based interventions as well as test the overall efficacy of the program comparing with the control. Data will be collected from all compounds at baseline, three month midline and at the six month endline giving us the practical and analytical benefits of a longitudinal dataset. Compounds will participate in interactive, educational safe water and/or hygiene promotion meetings. For the Disgust and Shame group, these meetings will emphasize disgust and shame related to unsafe water and/or hygiene practices, whereas the Standard group's meetings will resemble a more typical public health intervention explaining the risks and methods of contamination. At the first meeting, compounds will receive a one month free trial of the latest compound based chlorine dispenser model to treat their drinking water. A randomly selected half will also receive a one month free trial of the latest compound based handwashing station. At the end of the month, there will be a sales meeting in which the investigators will measure compound members' willingness to pay for the trialled products by giving them the opportunity purchase and keep the hardware in a Becker-DeGroot-Marschek (BDM) style auction. In assessing the impact of the interventions, the investigators are primarily interested in whether the prevalences of safe water and hygiene behaviours differ by treatment arm and over time. The best measurements for approximating behaviour prevalence are physical observations (presence of residual chlorine, hand cleanliness inspections), structured observation of behaviour, rapid physical observations (physical state of hardware/drinking water), self-report of water treatment and hand washing behaviour and willingness to pay for necessary products. The investigators will also attempt to measure and track changes in personal determinants of behaviour such as feelings of disgust and shame related to hand washing and water treatment behaviours.INTERVENTIONALInclusion Criteria: Essential compound criteria * Between 3 and 15 Households * Shared water source * Physical space exists to hold a compound meeting here or nearby * Population is all Bangali Exclusion Criteria: * No other interventions going on at this timeALL2024-10-18T00:00:002011-11-012014-01-142015-06-112014-01-152015-06-122011-082012-062014-06trueAn estimated 2.2 million children under the age of 5 years die from diarrheal disease each year. Most of the burden of diarrheal disease is thought to be preventable with improvements in sanitation, water quality, and hygiene. Large scale interventions promoting these behaviours have either not been rigorously tested or have not produced sufficient change to warrant being rolled out at scale. Research into the determinants of hand washing behaviour has identified disgust and shame as key motivators. Evidence supports the theory that disgust is a natural behavioural reaction to objects carrying disease risk, thus it may act as a key motivator for other health related behaviours such as water treatment. Whether this knowledge can be harnessed to increase the efficacy of hand washing and safe water campaigns in Bangladesh or elsewhere has yet to be rigorously tested. The investigators will develop an intervention that utilizes disgust and shame eliciting messages to promote hand washing with soap and point of use water treatment in low income housing compounds of urban Dhaka. The investigators will test the efficacy of this intervention against a more traditional public health intervention based on increasing knowledge of health risks and germ transmission using a randomized controlled trial. The study sample will be broken into the following four arms. 1. Standard Public Health Intervention with Water Treatment 2. Standard Public Health Intervention with Water Treatment \& Hand Washing 3. Disgust and Shame Based Intervention with Water Treatment 4. Disgust and Shame Based Intervention with Water Treatment \& Hand This design will allow us to compare outcomes for hand washing and water treatment between both standard public health interventions and disgust and shame based interventions as well as test the overall efficacy of the program comparing with the control. Data will be collected from all compounds at baseline, three month midline and at the six month endline giving us the practical and analytical benefits of a longitudinal dataset. Compounds will participate in interactive, educational safe water and/or hygiene promotion meetings. For the Disgust and Shame group, these meetings will emphasize disgust and shame related to unsafe water and/or hygiene practices, whereas the Standard group's meetings will resemble a more typical public health intervention explaining the risks and methods of contamination. At the first meeting, compounds will receive a one month free trial of the latest compound based chlorine dispenser model to treat their drinking water. A randomly selected half will also receive a one month free trial of the latest compound based handwashing station. At the end of the month, there will be a sales meeting in which the investigators will measure compound members' willingness to pay for the trialled products by giving them the opportunity purchase and keep the hardware in a Becker-DeGroot-Marschek (BDM) style auction. In assessing the impact of the interventions, the investigators are primarily interested in whether the prevalences of safe water and hygiene behaviours differ by treatment arm and over time. The best measurements for approximating behaviour prevalence are physical observations (presence of residual chlorine, hand cleanliness inspections), structured observation of behaviour, rapid physical observations (physical state of hardware/drinking water), self-report of water treatment and hand washing behaviour and willingness to pay for necessary products. The investigators will also attempt to measure and track changes in personal determinants of behaviour such as feelings of disgust and shame related to hand washing and water treatment behaviours.Develop a New Group Version of the Becker-DeGroot-Marsckek (BDM) Auction to Measure Willingness to Pay of Compound Members for Shared Hardware.;Develop a New Survey Instrument to Measure Behavioural Determinants of Hand Washing and Water Treatment Like Disgust and Shame or Social Pressure.;Identify New Methods for Measuring Hand Washing and Water Treatment Behaviour.;Compare the Effectiveness of the Disgust and Shame Based Interventions With Standard Public Health Interventions.PHASE1420Chlorine residual test of stored drinking water in the home. This is a downward biased but reliable measure.Hand washing indicators which have been shown to be independently associated with less self reported diarrhoea \[55\] Hand Inspection: Child's finger pads are visibly clean. Hand washing demonstration: Mother uses soap when demonstrating how she washes her hands. Self report by mothers of washing hands with soap before feeding children. Structured Observation Physical condition of hand washing hardware: Present, usable, filled. This is a valid detector of non-users.9 monthsWater TreatmentWillingness to pay for compound based chlorine dispenser. Structured Observation Self-Report of water treatment behaviour. This is an upward biased measure but is believed to be reliable. Physical condition of water treatment station: Present, usable, filled. This is a valid detector of non-users.9 monthsTrueFalseFalseFalseFalse NCT012079082010-1491Children's Hospital Medical Center, CincinnatiOTHERSafety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy2020-12COMPLETEDThe purpose of this study is to determine whether IGF-1 therapy improves or preserves muscle function in Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * DMD diagnosed with mutational testing and/or complete absence of dystrophin on muscle biopsy * Proximal pelvic girdle weakness (Gower's maneuver, difficulty with arising from floor and going up steps) * Male * Age \> 5 years of age * Bone maturation (assess by bone age x-ray): \</= 11 years of age * Daily GC (prednisone or deflazacort) therapy for \> 12 months * Ambulatory * Informed consent * Willingness and ability to comply with all protocol requirements and procedures Exclusion Criteria: * Current or prior treatment with growth hormone or IGF-1 therapy * Non-ambulatory * Pubertal (based on clinical Tanner staging examination) * Congestive cardiac failure * History of intracranial hypertension * Daytime ventilatory dependence (non-invasive or tracheostomy) * Concomitant therapy - any other medications/supplements that would be considered, in the opinion of the investigators, to affect muscle function, need to have been started 3 months prior to enrollment * Patients enrolled in other clinical drug trials * Any physical or mental conditions which may, in the investigators'opinions, render the subject unable to complete the tasks of the study appropriately * There will be no selection by ethnicityMALE2024-10-18T00:00:002010-09-222010-09-222020-12-282010-09-232021-01-202010-112012-102013-06trueThe purpose of this study is to determine whether IGF-1 therapy improves or preserves muscle function in Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE1PHASE244Difference in 6-Minute Walk Distance Between Groups (Control Minus IGF-1) for Change at 6 Months Versus BaselineOutcome Measure Data Table shows change of 6-Minute Walk Distance at 6 months versus baseline in each arm. The Statistical Analysis section shows the 6-month difference between the 2 arms (control minus IGF-1).6 monthsDifference in Height Velocity Between Groups (Control Minus IGF-1) for Change at 6 Months Versus BaselineOutcome Measure Data Table shows change of height velocity at 6 months versus baseline in each arm. The Statistical Analysis section shows the 6-month difference between the 2 arms (control minus IGF-1).6 monthsDifference in North Star Ambulatory Assessment (NSAA) Score Between Groups (Control Minus IGF-1) for Change at 6 Months Versus BaselineOutcome Measure Data Table shows change of North Star Ambulatory Assessment (NSAA) score at 6 months versus baseline in each arm. The Statistical Analysis section shows the 6-month difference between the 2 arms (control minus IGF-1). The NSAA is a 17-item scale that grades performance of various functional skills on a scale from 0 (unable), 1 (complete independently but with modifications), and 2 (complete without compensation). The range of NSAA score is from 0 to 34. The higher score indicates better motor function.6 monthsFalse5TrueFalseFalseFalse NCT01491555IRB-P00001218Boston Children's HospitalOTHERElectrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy2016-03COMPLETEDResearchers at Children's Hospital Boston Neurology Department invite children to participate in a new research study. Researchers are looking for boys ages 2 - 30 with Duchenne Muscular Dystrophy (DMD) and healthy boys ages 2 - 30 (without any nerve or muscle concerns) to serve as controls. The study is evaluating a new technique that will test nerve and muscle function. The testing is all pain free. Children participating in the study will come in for 10 visits over two years. Visits will take place every month at first, then less often for the remaining visits. The tests for the study itself take approximately 2hours. If participants are interested or would like to learn more about the study, please call Lavanya Madabusi at 617-919-3554 or Lavanya.Madabusi@childrens.harvard.edu. All inquiries will be kept strictly confidential.OBSERVATIONALInclusion criteria (DMD): 1. Genetically or histologically established diagnosis of DMD 2. Male, age 2 - 30 Inclusion criteria (Control): 1. Male, age 2 - 30 Exclusion criteria (DMD): 1. Presence of implanted pacemaker or other electrical device 2. Presence of a superimposed neuromuscular or other medical condition that substantially impacts the individual's health Exclusion criteria (control): 1. Presence or past history of a neuromuscular disorder or other disease that substantially impacts health 2. Presence of implanted pacemaker or other electrical device.MALE2024-10-18T00:00:002011-12-052011-12-132016-03-232011-12-142016-03-242012-042015-092015-09falseResearchers at Children's Hospital Boston Neurology Department invite children to participate in a new research study. Researchers are looking for boys ages 2 - 30 with Duchenne Muscular Dystrophy (DMD) and healthy boys ages 2 - 30 (without any nerve or muscle concerns) to serve as controls. The study is evaluating a new technique that will test nerve and muscle function. The testing is all pain free. Children participating in the study will come in for 10 visits over two years. Visits will take place every month at first, then less often for the remaining visits. The tests for the study itself take approximately 2hours. If participants are interested or would like to learn more about the study, please call Lavanya Madabusi at 617-919-3554 or Lavanya.Madabusi@childrens.harvard.edu. All inquiries will be kept strictly confidential.Duchenne Muscular Dystrophy73The rate of decline of DMD patients versus normal subjects as assessed by EIM and quantitative ultrasoundWith the successful completion of this aim, the investigators will establish that alterations in both EIM and QUS provide meaningful surrogate measures of disease progression in DMD.up to 45 monthsThe rate of decline of DMD patients versus normal subjects as assessed by handheld dynamometry, 6-minute walk, and other functional tests.With the successful completion of this aim, the investigators will establish that alterations in functional assessments may provide additional meaningful surrogate measures of disease progression in DMD.up to 45 monthsTrue230FalseFalseFalseFalse NCT02340923PED-003-2014Skulpt, Inc.INDUSTRYA Device for Rapid, Painless, Bedside Muscle Evaluation of Children2016-08COMPLETEDThe purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of children with a wide variety of neuromuscular conditions.OBSERVATIONALDuchenne Muscular Dystrophy: Inclusion Criteria: * 1. Age 0-18 * 2. Male * 3. Genetic or histopathologic diagnosis of duchenne muscular dystrophy, or signs and symptoms of DMD and genetic or histopathologic diagnosis in a family member. Exclusion Criteria: * 1. Age over 18 * 2. Female * 3. Presence of a superimposed neuromuscular or other medical condition that substantially impacts the individual's health or ability to cooperate.MALE2024-10-18T00:00:002014-12-032015-01-132016-08-102015-01-192016-08-112015-012016-062016-08trueThe purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of children with a wide variety of neuromuscular conditions.Duchenne Muscular Dystrophy327Electrical Impedance Myography MeasurementsUp to 11 muscles will be measured using EIM technology. These muscles include: Right Lateral Deltoid, Right Biceps, Right Triceps, Right Wrist Flexors, Right Wrist Extensors, Right Vastus Lateralis, Right Tibialis Anterior, Right Gastrocnemius, Right Gluteus Medius, Right Biceps Femoris, and Right Thoracic Parapinal.Baseline (all subjects) & 3 months, 6 months, 1 year for returning subjects onlyTrue18FalseFalseFalseFalse NCT059906082021/371Ondokuz Mayıs UniversityOTHERPeabody Developmental Motor Scaling In Children With Period Duchenne Muscular Dystrophy2023-08COMPLETEDTo perform the reliability and validity study of the Peabody Developmental Motor Scale (Peabody Developmental Motor Scales-2) in children with Duchenne Muscular Dystrophy (DMD).OBSERVATIONALInclusion Criteria: * for Group I: * No neurodevelopmental problems or diseases * 3-5 years old * Being able to cooperate with the instructions given by the physiotherapist. * Children who volunteered to participate in the study and whose families gave consent form will be included in the study. * for Group II: * Being diagnosed with Duchenne Muscular Dystrophy by a pediatric neurologist * 3-5 years old * Children who volunteered to participate in the study and whose parents' consent was obtained will be included in the study. Exclusion Criteria: * Children with a behavioral condition and any disorder that interferes with testing (eg autism spectrum disorder) * Failure to cooperate with the physiotherapist who made the evaluations. * Lack of volunteers.ALL2024-10-18T00:00:002023-07-312023-08-062023-08-062023-08-142023-08-142021-07-302022-07-302023-07-30trueFalseFalseTo perform the reliability and validity study of the Peabody Developmental Motor Scale (Peabody Developmental Motor Scales-2) in children with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular Dystrophy (DMD)48Peabody Developmental Motor Scales-2This assessment will take place over the course of the study started and to the finish timeTrue35FalseFalseFalseFalse NCT05313295FiNeuroUniversidad de AlmeriaOTHERPhysical Therapy Treatment on Children and Adolescents With Neurological Pathologies2023-05COMPLETEDTo evaluate the positive effects of a home-based physical therapy intervention added to the usual physical therapy programs performed in children with neurological pathologies that induce sensorimotor impairments that affect their quality of life and the importance of the implications of their families in their treatment.INTERVENTIONALInclusion Criteria: * Parents agree to include their children on the study * Affiliated to the Duchenne Parents Project Association (Spain) * Between 3-18 years old Exclusion Criteria: * Other pathological conditions * Parents refuse the participation on the studyALL2024-10-18T00:00:002022-02-272022-04-052023-05-222022-04-062023-05-232018-11-012022-11-302023-05-10trueFalseFalseTo evaluate the positive effects of a home-based physical therapy intervention added to the usual physical therapy programs performed in children with neurological pathologies that induce sensorimotor impairments that affect their quality of life and the importance of the implications of their families in their treatment.Neurologic Disorder;Duchenne;Pediatric Disorder;Sensorimotor Disorder NosNA30Motor Function MeasureMeasurement scale for motor function applied to neuromuscular diseases (MFM): It was created in France in order to perform a better evaluation of global motor function in patients with Duchenne's muscular dystrophy (DMD), both for ambulatory and non-ambulatory patients. It has two versions, MFM 20 for children under 6 years of age and MFM 32 for children over 6 years of age. The scale considers three dimensions: (D1) standing station and transfers; (D2) axial and proximal motor skills and (D3) distal motor skills. The sum of the three results in a global percentage that provides an updated overview of the patient's functional diagnosis. (Trundell et al., 2020)One YearBrooke Upper Extremity ScaleIt is a scale of levels from 1 to 5 for the motor functional classification of the upper limbs. (Brooke et al., 1989) It is graded according to the motor ability of the child evaluated in the following categories: (1) bring the arms towards the ceiling (2) raises arms above head but bends elbows (3) cannot raise hands above head, but can bring glass of water to mouth (4) holds pen or picks up coin and ( 5) It does not have any useful function with the hand. The lower the score, the better the upper extremity motor function. (Mayhew et al., 2013) In addition, this scale is frequently used in the DMD population and its intraclass correlation coefficient (ICC) is .99 .(Lue et al., 2006)One YearVignos ScaleIt is a functional classification that scores from 1 to 10, where the highest number represents the most intense progressive condition of DMD reflected in the patient's ambulation. The possible categories are: (1) walks and climbs stairs without assistance (2) walks and climbs stairs with assistance or handrails (3) walks and climbs stairs slowly with the assistance of handrails (4) walks without assistance and gets up from a chair but does not climb stairs (5) walks without assistance but cannot get up from a chair or climb stairs (6) walks only with the aid of long orthoses (7) walks with long orthoses but needs help to maintain balance (8) stands upright with orthoses but unable to walk or with assistance, (9) in a wheelchair and (10) confined to bed.(Fernandes et al., 2014; Martini et al., 2015)One YearTimed Up and Go TestDetermines the patient's risk of falling. The test is performed under a stopwatch, asking the patient to get up from a chair (with or without support), stand up, walk 3 meters, turn around and come back to sit on the chair again. If the patient takes more than 20 seconds to perform, they have a high risk of falling; and between 10 and 20 seconds will indicate fragility. (Alkan et al., 2017)One YearSix Minutes Walk DistanceIt consists of quantifying in meters the distance traveled in 6 minutes by the patient. The more meters walked, the less impairment.(Mcdonald et al., 2013) Individualized periodic assessment of 6 Minutes Walking Distance (6MWD) is the most widely accepted primary clinical endpoint in Duchenne's muscular dystrophy (DMD) clinical trials(Goemans et al., 2016); and provides a better prognosis than those based solely on age. After analyzing its test-retest reliability in DMD, its ICC is 0.92. (Mcdonald et al., 2013)One YearFalse318FalseFalseFalseFalse NCT032189954658-102Sarepta Therapeutics, Inc.INDUSTRYStudy of Eteplirsen in Young Participants With Duchenne Muscular Dystrophy (DMD) Amenable to Exon 51 Skipping2021-11COMPLETEDThis is a multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and PK of once-weekly IV infusions of eteplirsen in approximately 12 male participants, ages 6 months to 48 months (inclusive), who have genotypically confirmed DMD with a deletion mutation amenable to exon 51 skipping.INTERVENTIONALInclusion Criteria: * Male between 6 months to 48 months of age (inclusive) * Diagnosis of DMD with a deletion mutation amenable to exon 51 skipping * Parent(s) or legal guardian(s) who is willing to provide written informed consent Exclusion Criteria: * Received treatment that might have an effect on muscle strength or function within 12 weeks prior to dosing * Received previous or current treatment with any experimental treatment * Clinically significant illness other than DMD * Clinically significant laboratory abnormality * Any other condition that could interfere with the participation in the study.MALE2024-10-18T00:00:002017-07-092017-07-122021-11-102017-07-172021-12-092017-08-162021-03-102021-03-10trueTrueFalseThis is a multicenter, open-label, dose-escalation study to evaluate the safety, tolerability, and PK of once-weekly IV infusions of eteplirsen in approximately 12 male participants, ages 6 months to 48 months (inclusive), who have genotypically confirmed DMD with a deletion mutation amenable to exon 51 skipping.Duchenne Muscular DystrophyPHASE215Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and TEAEs Leading to Discontinuation From Study DrugTEAEs were defined as adverse events (AEs) with an onset following administration of the first dose of study drug. An AE was any untoward medical occurrence in a participant, which does not necessarily have a causal relationship with the study drug. Abnormalities presented at Baseline were considered AEs if they reoccurred after resolution or worsen during the AE collection period. An SAE was defined as any AE that, in the view of either the Investigator or Sponsor, resulted in any of the following outcomes as fatal, life-threatening, required hospitalization or prolongation of existing hospitalization, persistent or significant disability/incapacity, a congenital anomaly/birth defect, or an important medical event. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Adverse Events' Section.Baseline up to Week 100Number of Participants With at Least 1 Potentially Clinically Significant Clinical Safety Laboratory AbnormalityClinical laboratory parameters that were evaluated included * Any Grade ≥2 (moderate) or serious event without an alternative etiology that the Investigator deemed was related to study drug * Two consecutive drug-related serum creatinine levels ≥2\*upper limit of normal (ULN) without an alternative etiology * Creatine kinase (CK) levels \>50,000 units/liter (U/L) * A confirmed, unexplained, increase in gamma glutamyl transferase (GGT) \>3\*ULN and either an increase in bilirubin \>2\*ULN or nascent prothrombin time \>2\*ULN concurrently, without an alternative etiologyBaseline up to Week 100Number of Participants With at Least 1 Markedly Abnormal Vital SignThe vital sign parameters that were evaluated included blood pressure, heart rate, respiration, and temperature. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Adverse Events' Section.Baseline up to Week 100Abnormal Changes From Baseline or Worsening of Physical Examination FindingsData not collected during the study for this Outcome Measure. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Adverse Events' Section.Baseline up to Week 100Number of Participants With at Least 1 Markedly Abnormal Electrocardiogram (ECG) and Echocardiogram (ECHO)The ECG was manually reviewed and interpreted by medically qualified personnel using a central vendor according to pre-specified criteria. The Investigator determined if the findings in the centrally read ECG report were clinically significant. Clinical significance was defined as any variation in ECG findings that had medical relevance resulting in an alteration in medical care. The ECHO was reviewed and interpreted by medically qualified personnel using a central vendor according to pre-specified criteria. The Investigator determined if the findings in the ECHO report were clinically significant. Clinical significance was defined as any variation in ECHO findings that had medical relevance resulting in an alteration in medical care. A summary of all SAEs and Other AEs (nonserious) regardless of causality is located in the 'Adverse Events' Section.Weeks 8, 12, 24, 36, 48, 60, 72, 84, 96Maximum Plasma Concentration (Cmax) of EteplirsenPre-infusion, immediately prior to end of infusion, and approximately 1-3 hours and 6-8 hours after completion of infusion during Weeks 2 (2 mg/kg dose level), 6 (10 mg/kg dose level), 8 (20 mg/kg dose level), and 10 and 24 (30 mg/kg dose level)Time to Reach Maximum Plasma Concentration (Tmax) of EteplirsenPre-infusion, immediately prior to end of infusion, and approximately 1-3 hours and 6-8 hours after completion of infusion during Weeks 2 (2 mg/kg dose level), 6 (10 mg/kg dose level), 8 (20 mg/kg dose level), and 10 and 24 (30 mg/kg dose level)Area Under Concentration-Time Curve From Time 0 to the Last Quantifiable Concentration (AUClast) of Eteplirsen in PlasmaPre-infusion, immediately prior to end of infusion, and approximately 1-3 hours and 6-8 hours after completion of infusion during Weeks 2 (2 mg/kg dose level), 6 (10 mg/kg dose level), 8 (20 mg/kg dose level), and 10 and 24 (30 mg/kg dose level)Amount of Drug Eliminated in UrineAmount of unchanged drug excreted in urine from time 0 to 4 hours after completion of dosing is reported.Pre-infusion, immediately prior to end of infusion, and approximately 1-3 hours and 6-8 hours after completion of infusion during Weeks 2 (2 mg/kg dose level), 6 (10 mg/kg dose level), 8 (20 mg/kg dose level), and 10 and 24 (30 mg/kg dose level)False648FalseFalseFalseFalse NCT06641895BBM041-IIT1001Shanghai Jiao Tong University School of MedicineOTHEREvaluation of the Safety and Efficacy of BBM-D101 to Treat Patients With Duchenne Muscular Dystrophy2024-10RECRUITINGThe purpose of the study is to assess the safety, tolerability, and efficacy of BBM-D101 to treat patients with Duchenne Muscular Dystrophy.INTERVENTIONALInclusion Criteria: 1. The legal guardian of the subject fully understands the purpose, nature, methods, and possible risks of the study, and signs a written informed consent form; 2. The study includes ambulatory male subjects who are at least 4 years old and less than 8 years old (4 years old ≤ age \&lt; 8 years old) ; 3. Genetically confirmed diagnosis of DMD; 4. Have at least 1 of the following typical clinical signs or laboratory abnormalities of DMD: proximal muscle weakness, waddling gait, pseudo gastrocnemius hypertrophy, Gower\&#39;s sign, pterygoid scapula; 5. Ability to cooperate with motor assessment testing, magnetic resonance imaging (MRI) and muscle biopsy according to the requirements of the study. Exclusion Criteria: 1. Hepatitis B surface antigen (HBsAg) positive, hepatitis B virus deoxyribonucleic acid (HBV-DNA) ≥1000U/mL, hepatitis C virus ribonucleic acid (HCV-RNA) positive or human immunodeficiency virus (HIV) positive; 2. Receiving antiviral therapy for hepatitis B, hepatitis C, HIV, etc.; 3. Left ventricular ejection fraction (LVEF) \&lt;50% or ≥ class III cardiac function defined by New York Heart Association (NYHA); 4. With severe or persistent arrhythmias and congenital heart disease. 5. The subject\&#39;s preventive treatment/cardiomyopathy treatment changes within 1 month before the start of the study treatment; 6. With underlying liver disease, such as previous diagnosis of portal hypertension, splenomegaly, hepatic encephalopathy, or hepatic fibrosis ≥ stage 3; or nodules, cysts found by B-ultrasound in the past, or elevated alpha-fetoprotein in laboratory tests during the screening period, etc., and these abnormalities are judged by the investigator to be clinically significant;MALE2024-10-18T00:00:002024-10-082024-10-142024-10-142024-10-152024-10-152024-07-252026-07-312030-07-31FalseFalseThe purpose of the study is to assess the safety, tolerability, and efficacy of BBM-D101 to treat patients with Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy (DMD)EARLY_PHASE16Incidence of dose limiting toxicity (DLT) eventsTo access the numbers of DLT events determined by the Safety Data Review Committee (SRC) in DLT observation period after BBM-D101 injection infusion.12 weeksThe incidence of adverse events (AEs) and serious adverse events (SAEs)To assess the safety of BBM-D101 Injection by AEs and SAEs.52 weeksChanges from baseline in the North Star Ambulatory Assessment (NSAA)To assess changes in NSAA from baseline within 12 weeks, 26 weeks, and 52 weeks after BBM-D101 injection infusion; The NSAA is a scale that rates performance of various motor abilities in ambulant children with Duchenne Muscular Dystrophy and is used to monitor disease progression and treatment effects. The NSAA total score is defined as the sum of all 17items, ranging from 0 (worst) to 34 (best).52 weeksChanges from baseline in the time to ascend 10-meter walk/run test (10MWR) without assistanceTo assess changes in 10MWR from baseline within 12 weeks, 26 weeks, and 52 weeks after BBM-D101 injection infusion52 weeksChanges from baseline in the time to ascend time to rise (TTR) without assistance without assistanceTo assess changes in TTR from baseline within 12 weeks, 26 weeks, and 52 weeks after BBM-D101 injection infusion52 weeksChanges from baseline in the time to ascend 4 steps (4-stair climb, 4SC) without assistanceTo assess changes in 4-SC from baseline within 12 weeks, 26 weeks, and 52 weeks after BBM-D101 injection infusion52 weeksChanges from baseline in the time to ascend 100-meter walk/run test (100MWR) without assistanceTo assess changes in 100MWR from baseline within 12 weeks, 26 weeks, and 52 weeks after BBM-D101 injection infusion52 weeksChanges from baseline in BBM-D101 genome copies in muscle biopsy samplesTo assess changes of BBM-D101 genome from baseline in muscle in 12 weeks and 52 weeks following BBM-D101 administration. BBM-D101 genome was detected by Quantitative Polymerase Chain Reaction (QPCR).52 weeksChanges from baseline in BBM-D101 therapeutic protein level in muscle biopsy samplesTo assess changes of BBM-D101 therapeutic protein from baseline in muscle in 12 weeks and 52 weeks following BBM-D101 administration. BBM-D101 therapeutic protein was detected by western blot (Jess) and tissue immunofluorescence.52 weeksFalse48FalseFalseFalseFalse NCT0235478114-00630Nationwide Children's HospitalOTHERClinical Intramuscular Gene Transfer of rAAV1.CMV.huFollistatin344 Trial to Patients With Duchenne Muscular Dystrophy2023-09COMPLETEDThe proposed clinical trial is an outgrowth of the safety record and functional improvement seen in the BMD follistatin gene therapy trial. In this study the investigators propose to inject AAV1.CMV.huFS344 at a total dose of 2.4E12 vg/kg to six DMD patients. This dose will be divided between gluteal muscles, quadriceps and tibialis anterior. This is a wider distribution of vector than given to BMD patients, who overall improved the distance walked on the 6MWT without adverse events related to viral transduction into a single muscle.INTERVENTIONALInclusion Criteria: * Age 7 or older * Confirmed DMD gene mutations * Impaired muscle function based on clinical evidence including difficulty climbing stairs, getting from the floor (Gowers' sign), and weakness of individual muscles of extremities * Males of any ethnic group will be eligible * Ability to cooperate with study procedures including muscle testing. * Willingness of sexually active subjects with reproductive capacity to practice reliable method of contraception * Subjects must be on stable dose of prednisone for three months at time of enrollment or be started on oral dose of daily prednisone regimen for 30 days prior to gene transfer. Study participants will continue prednisone post gene transfer unless there is adverse event that warrants prednisone taper or withdrawal. Exclusion Criteria: * Active viral infection based on clinical observations. * The presence of a DMD gene mutation without weakness or loss of function * Symptoms or signs of cardiomyopathy, including: * Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs * Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis A, B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer * Subjects with rAAV1 binding antibody titers \> 1:50 as determined by ELISA immunoassay * Abnormal laboratory values for liver, kidney, CBC, in the clinically significant range, based upon normal values in the Nationwide Children's Hospital LaboratoryMALE2024-10-18T00:00:002015-01-262015-02-022023-09-292015-02-032023-10-112015-012017-112017-11trueThe proposed clinical trial is an outgrowth of the safety record and functional improvement seen in the BMD follistatin gene therapy trial. In this study the investigators propose to inject AAV1.CMV.huFS344 at a total dose of 2.4E12 vg/kg to six DMD patients. This dose will be divided between gluteal muscles, quadriceps and tibialis anterior. This is a wider distribution of vector than given to BMD patients, who overall improved the distance walked on the 6MWT without adverse events related to viral transduction into a single muscle.Duchenne Muscular DystrophyPHASE1PHASE23Number of Dose Limiting Toxicity (DLT) Adverse Events as Assessed by 21 CFR 312.32.Dose limiting toxicity (DLT) is defined as any adverse event that is possibly, probably, or definitely related to the study agent. This would include any grade 3 according to the classification given above. Study enrollment will be halted by the investigators when any subject experiences a Grade 3, or higher adverse event toxicity that is possibly, probably, or definitely related to the study drug. Only those adverse events requiring treatment will qualify as DLT. The classification for adverse events to be used is the following: 1. Mild adverse event; did not require treatment 2. Moderate adverse event; resolved with treatment 3. Severe adverse event; inability to carry on normal activities; required professional medical attention 4. Life-threatening or permanently disabling adverse event 5. Fatal adverse event In this grading system, "severe" is not equivalent to seriousness.DLT Adverse events will be recorded from the date of dosing and through the time of the subject's last study visit. Serious adverse events will be recorded from the date of dosing and for up to 2 years after gene therapy administration.Muscle Function Measured by Six-minute Walk Test (6MWT)Number of subjects with increased distance walked in meters on the Six Minute Walk Test. The participant was asked to walk a set course of 25 meters for 6 minutes (timed) and the distance walked in meters was recorded. Increases from baseline in 6MWT distance are indicative of improvement and decreases from baseline indicate worsening.2 yearsExpression of Viral DNA (qPCR), and Follistatin Transgene in Muscle TissueMuscle biopsies on quadriceps muscles a muscle biopsy on one leg at baseline screening visit and the post gene transfer biopsy on the opposite leg at day 180. Muscle tissue obtained at biopsy will also be assessed for viral DNA (qPCR), and follistatin transgene expression. Measured in CMV.FS344 Gene Copy Number in Genomic DNA (Copies/ug DNA)180.daysImprovement of Muscle Function as Measured by North Star Ambulatory Assessment (NSAA)Overall Improvement in North Star Ambulatory Assessment The activities are graded as follows: 2 - "Normal" - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently This scale is ordinal with 34 as the maximum score indicating fully-independent function.2 yearsFalse7TrueFalseFalseFalse NCT0349021467_18 BUniversity of Erlangen-Nürnberg Medical SchoolOTHERNon-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography2019-12COMPLETEDThis pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.INTERVENTIONALDMD-Patients Inclusion Criteria: * Histologic or genetically proven DMD * Age 3-10 years Exclusion Criteria: - Healthy controls Inclusion Criteria: * Male * Age 3-10 years Exclusion Criteria: * Suspected muscular disease/myopathia * missing informed consentMALE2024-10-18T00:00:002018-03-192018-03-292019-12-052018-04-062019-12-092018-06-012018-08-012018-09-01falseFalseFalseThis pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.Duchenne Muscular Dystrophy;Muscular Dystrophies;Muscular Dystrophy, DuchenneNA20Muscular lipid contentQuantitative lipid signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)Single time point (1 day)Muscular collagen contentQuantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)Single time point (1 day)Muscular myo-/hemoglobin contentQuantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)Single time point (1 day)Correlation of lipid signal with age/disease durationQuantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)Single time point (1 day)Correlation of myo-/hemoglobin signal with age/disease durationQuantitative moo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)Single time point (1 day)Correlation of lipid signal with 6MWTQuantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)Single time point (1 day)Correlation of lipid signal with MRCQuantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scaleSingle time point (1 day)Correlation of collagen signal with 6MWTQuantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)Single time point (1 day)Correlation of collagen signal with MRCQuantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scaleSingle time point (1 day)Correlation of myo-/hemoglobin signal with 6MWTQuantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)Single time point (1 day)Correlation of myo-/hemoglobin signal with MRCQuantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scaleSingle time point (1 day)Signal differences left and right musclesComparison of quantitative signal levels (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD/healthy controls in right and left body muscular groups (upper and lower body)Single time point (1 day)True310FalseFalseFalseFalse NCT06147414APHP220809Assistance Publique - Hôpitaux de ParisOTHERDevelopment of Non-Invasive Prenatal Diagnosis for Single Gene Disorders2024-02NOT_YET_RECRUITINGCell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.OBSERVATIONALInclusion Criteria: * pregnant woman with 9 weeks of amenorrhea or more * singleton pregnancy * undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, ATP7A or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK * germinal pathogenic paternal and/or maternal mutations previously identified * age 18 years old or over * signing an informed consent Exclusion Criteria: * at risk of another SGD * at risk of SGD involving a de novo pathogenic mutation in a previous child * woman under legal protectionFEMALE2024-10-18T00:00:002023-09-182023-11-242024-02-262023-11-272024-02-282024-042026-122026-12falseFalseFalseCell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including;Sickle Cell Disease;Cystic Fibrosis;Fragile X Syndrome;Proximal Spinal Muscular Atrophy;Myotonic Dystrophy;Muscular Dystrophy, Duchenne;Muscular Dystrophy, Becker;Neurofibromatosis-Noonan Syndrome;Huntington Disease;Hemophilia A;Hemophilia B;MODY2 Diabetes;X-Linked Hydrocephalus;Autosomal Recessive Polycystic Kidney Disease550% of affected/unaffected fetuses that were correctly classified as affected/unaffectedrespectively among conclusive results1 day% of inconclusive results1 daycffDNA concentration in maternal plasmarelative concentration in % of total cell-free DNA1 daysequencing coveragemean number of reads in targeted locus1 dayQuality scoresblock and concordance scores, evaluated from 0 to 1 as described in Pacault et al, Plos One, 20231 dayOptimal window in terms of gestational age for maternal samplingblock and concordance scores will be compared depending on the maternal blood sampling window: * group 1 corresponds to samples between 7+0 and 7+6 weeks of gestation * group 2 corresponds to samples between 8+0 and 8+6 weeks of gestation * group 3 corresponds to samples between 9+0 and 9+6 weeks of gestation * group 4 corresponds to samples between 10+0 and 10+6 weeks of gestation * group 5 corresponds to samples between 11+0 and 11+6 weeks of gestation * group 6 corresponds to samples over 12+0 weeks of gestationthrough study completion, an average of 2 yearsSimplicity of implementationwill be quoted 1 to 10 (very simple to poor)through study completion, an average of 2 yearsTurnaround timewill be evaluated in terms of working half-daysthrough study completion, an average of 2 yearsEstimated delay for result in standard care diagnosis conditionthrough study completion, an average of 2 yearsFalse18FalseFalseFalseFalse NCT02168114IRB201602354University of FloridaOTHERMagnetic Resonance and Optical Imaging of Dystrophic and Damaged Muscle2018-01COMPLETEDThe purpose of this research study is to determine the potential of Optical Imaging techniques to detect muscle damage in boys with Duchenne Muscular Dystrophy and unaffected exercised muscle. Healthy subjects will undergo two different exercises in opposite forearms before any imaging techniques are performed. Boys with Duchenne Muscular Dystrophy will only undergo the imaging techniques without exercise.INTERVENTIONALInclusion Criteria for Duchenne Muscular Dystrophy subjects: * Diagnosis of Duchenne muscular dystrophy confirmed by 1) clinical history with features before the age of 5 years, 2) physical examination, 3) elevated serum creatine kinase level, and 4) absence of dystrophin expression as determined by immune stain or Wester blot (\<2%) and/or DNA confirmation of dystrophin mutation * Must be between 10-15 years of age. * Must be male. Inclusion Criteria for unaffected subjects: * Must be older than 18 years of age. * Must be male. Exclusion Criteria for unaffected and Duchenne Muscular Dystrophy subjects: * Contraindication to an Magnetic Resonance examination (e.g. aneurysm clip, severe claustrophobia, magnetic implants) * Presence of a condition in patients that impacts muscle function or muscle metabolism (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease) * Medical condition leading to developmental delay or impaired motor control (e.g. cerebral palsy) * Unstable medical condition (e.g. uncontrolled seizure disorder) * Behavioral problems causing an inability to cooperate during testing * Control subjects who are participating in sport specific training 2 times or more per week * History of allergy to iodidesMALE2024-10-18T00:00:002014-06-062014-06-192018-01-102014-06-202018-01-122014-072018-01-082018-01-08falseFalseFalseThe purpose of this research study is to determine the potential of Optical Imaging techniques to detect muscle damage in boys with Duchenne Muscular Dystrophy and unaffected exercised muscle. Healthy subjects will undergo two different exercises in opposite forearms before any imaging techniques are performed. Boys with Duchenne Muscular Dystrophy will only undergo the imaging techniques without exercise.Duchenne Muscular DystrophyNA17Indocyanine Green accumulation in forearm musclesPercentage of area with elevated Indocyanine Green in muscle will be an indicator of cell membrane damage and will be measured using Optical Imaging in the forearms of study participants.Up to 2 daysMuscle T2 elevation in forearm musclesMuscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using Magnetic Resonance in the forearms of participants of this study.Up to 2 daysDelayed Onset of Muscle Soreness (DOMS)DOMS will be correlated to percentage of elevated pixels within forearms of study participants.Up to 2 daysSerum Creatine KinaseSerum Creatine Kinase is a marker of muscle damage and will be correlated to percentage of elevated pixels within forearms of study participantsUp to 2 daysTrue1055FalseFalseFalseFalse NCT0470831419-06-001Rare Disease Research, LLCOTHERAn Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy2021-05TERMINATEDThis is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen). Golodirsen 30 mg/kg will be administered as an intravenous (IV) infusion over approximately 35 to 60 minutes once a week during the treatment period (up to 96 weeks). After the treatment period, patients can go into a safety extension period (not to exceed 48 weeks) until the patient is able to transition to commercially available drug or a separate golodirsen study. Safety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory assessments, including pulmonary function tests (PFTs), upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.INTERVENTIONALInclusion Criteria: 1. Be a male with DMD with a mutation that may be amenable to exon 53 skipping as documented by a genetic report from an accredited laboratory confirming mutation endpoints by multiplex ligation-dependent probe amplification. 2. Be 7 years of age or older. 3. Has been on a stable dose of oral corticosteroids for at least 24 weeks prior to study drug administration and the dose is expected to remain constant (except for modifications to accommodate changes in weight) throughout the study or has not received corticosteroids for at least 24 weeks prior to study drug administration and does not expect to start corticosteroids throughout the study. 4. Be unable to ambulate ("non-ambulatory"). By definition, loss of ambulation means patient or caregiver reported continuous wheelchair use that has been verified by a clinical evaluator. The following conditions should be met: 1. Condition is not secondary to acute worsening of mobility due to orthopedic morbidity (eg, fracture, sprain, or injury) or surgical procedure. 2. Unable to perform 10-meter walk run test. 5. Has stable pulmonary function that, in the opinion of the Investigator, is unlikely to decompensate over the study period. 6. Patients who are post-pubertal and sexually active must agree to use, for the entire duration of the study and for 90 days post last dose, a male condom and the female sexual partner must also use a medically acceptable form of birth control (eg, oral contraceptives). 7. Able to understand and comply with all study requirements, in the Investigator's opinion, or if under the age of 18 years, must have a parent(s) or legal guardian(s) who is able to understand. 8. Willing to provide informed consent to participate in the study, or if under the age of 18 years, be willing to provide informed assent, if applicable, and have a parent(s) or legal guardian(s) who is willing to provide informed consent for the patient to participate in the study. Exclusion Criteria: 1. Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks of study drug administration that in the opinion of the Investigator might have an effect on skeletal muscle strength or function (eg, growth hormone, anabolic steroids). 2. Previous treatment with any investigational drug or exon skipping therapy within the last 3 months. 3. Major change in physiotherapy regimen within the past 3 months or expected change over the study period. 4. Major surgery within 3 months of study drug administration or planned major surgery for any time during this study. 5. Presence of other clinically significant illness that cannot be attributed to classic Duchenne disease course including significant cardiac, pulmonary, hepatic, renal, hematologic, immunologic, behavioral disease, or malignancy. 6. Systemic use of any aminoglycoside antibiotic within 12 weeks of study drug administration or anticipated need for use of an aminoglycoside antibiotic or statin during the study. 7. Must not require antiarrhythmic and/or antidiuretic therapy for heart failure. Patients are allowed to take other medication including angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blocking agents, β blockers or potassium, provided they have been on a stable dose for 24 weeks prior to study drug administration and the dose is expected to remain constant throughout the study. 8. If the patient is asymptomatic but has a LVEF \< 40% at Screening or clinically significant at the discretion of Investigator, the Investigator should discuss inclusion of patient in the study with the appropriate institutional safety committee or medical monitor. 9. Prior or ongoing medical condition that could, in the Investigator's opinion, adversely affect the safety of the patient, make it unlikely that the course of treatment would be completed, or impair the assessment of study results.MALE2024-10-18T00:00:002020-09-212021-01-122021-05-132021-01-132021-05-172020-10-312021-05-132021-05-13TrueFalseThis is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen). Golodirsen 30 mg/kg will be administered as an intravenous (IV) infusion over approximately 35 to 60 minutes once a week during the treatment period (up to 96 weeks). After the treatment period, patients can go into a safety extension period (not to exceed 48 weeks) until the patient is able to transition to commercially available drug or a separate golodirsen study. Safety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory assessments, including pulmonary function tests (PFTs), upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.Duchenne Muscular DystrophyPHASE42Explore the safety and tolerability of Golodirsen in number of participants with Treatment Emergent Adverse Events (TEAEs) and Serious TEAEsAdverse Event (AE) was any untoward medical occurrence in a participant that did not necessarily have a causal relationship with the study drug. Serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. Treatment emergent adverse events were events that developed or worsened during the on-treatment period (defined as time from first dose of study drug and up to 28 days after last dose of study drug \[up to 148 weeks\]) that were absent before treatment or that worsened relative to pre-treatment state. AEs included both serious and non-serious adverse events.Baseline up to 96 weeksFalse7TrueTrueFalseTrue NCT053301952022008Hacettepe UniversityOTHERBicycle Ergometer Training in Duchenne Muscular Dystrophy2023-10COMPLETEDThe progressive muscle weakness and contractures of the patients adversely affect their gait and balance. It is known that the disorder of the patients' balance and gait affects their functional capacity. The aim of this study is to examine the effects of bicycle ergometer training on gait and balance in children with Duchenne Muscular Dystrophy. Twenty-four children with DMD included in the study will be divided into two groups as home program and home program+bicycle ergometer training with block randomization method. Home program including stretching, respiratory, range of motion, posture and mild resistance exercise with body weight will be asked to apply 3-5 days a week for 12 weeks, aerobic training will be performed 3 days a week for 12 weeks at 60% of their maximum hearth rate with 40 minutes total duration consisting of 5 min warm up and 5 min cool down period. Gait and balance were evaluated with GAITrite and Bertec Balance Check Screener, successively. Assessments will be applied at pre-training and after 12 weeks of training.INTERVENTIONALInclusion Criteria: * Children have diagnosis of DMD confirmed by genetic analysis, * Children can walk with unsupported. Exclusion criteria: * Children have undergone any surgery or suffered injury of the lower limbs, * Children have severe contractures of lower limbs, * Children have low cooperation * Children have comorbid disease, * Children were applied regular aerobic training such as bicycle training and hydrotherapy in last 6 months.MALE2024-10-18T00:00:002022-03-312022-04-082023-10-102022-04-152023-10-112022-04-182023-02-282023-05-25trueFalseFalseThe progressive muscle weakness and contractures of the patients adversely affect their gait and balance. It is known that the disorder of the patients' balance and gait affects their functional capacity. The aim of this study is to examine the effects of bicycle ergometer training on gait and balance in children with Duchenne Muscular Dystrophy. Twenty-four children with DMD included in the study will be divided into two groups as home program and home program+bicycle ergometer training with block randomization method. Home program including stretching, respiratory, range of motion, posture and mild resistance exercise with body weight will be asked to apply 3-5 days a week for 12 weeks, aerobic training will be performed 3 days a week for 12 weeks at 60% of their maximum hearth rate with 40 minutes total duration consisting of 5 min warm up and 5 min cool down period. Gait and balance were evaluated with GAITrite and Bertec Balance Check Screener, successively. Assessments will be applied at pre-training and after 12 weeks of training.Duchenne Muscular DystrophyNA23Step Time and Cycle Time(Gait)The gait of patients with DMD was assessed by GAITrite (CIR Systems Inc., Franklin, New Jersey, USA) electronic walkway system, objective assessment of spatio-temporal characteristics of gait, at a self-selected speed for 3 times. With this walkway system, ambulation time (s) was evaluated.5 minutesStep Length, Stride Length and base of support (Gait)The gait of patients with DMD was assessed by GAITrite (CIR Systems Inc., Franklin, New Jersey, USA) electronic walkway system, objective assessment of spatio-temporal characteristics of gait, at a self-selected speed for 3 times. With this walkway system,step length (cm), stride length (cm) and base of support (cm) were evaluated.5 minutesSingle support, double support, swing phase and stance phase (Gait)The gait of patients with DMD was assessed by GAITrite (CIR Systems Inc., Franklin, New Jersey, USA) electronic walkway system, objective assessment of spatio-temporal characteristics of gait, at a self-selected speed for 3 times. With this walkway system, single support, double support, swing phase and stance phase were stated as %.5 minutesVelocity (Gait)The gait of patients with DMD was assessed by GAITrite (CIR Systems Inc., Franklin, New Jersey, USA) electronic walkway system, objective assessment of spatio-temporal characteristics of gait, at a self-selected speed for 3 times. With this walkway system, Velocity (cm/s) was evaluated.5 minutesCadence (Gait)The gait of patients with DMD was assessed by GAITrite (CIR Systems Inc., Franklin, New Jersey, USA) electronic walkway system, objective assessment of spatio-temporal characteristics of gait, at a self-selected speed for 3 times. With this walkway system, cadence (steps/min) was recorded.5 minutesBalance (rigid surface)The balance plate system used to assess balance and degree of postural sway was the Bertec Balance Check Screener™ (BP5050 Bertec Co., Columbus, OH, USA). The system consists of a 20 × 20-inch platform at ground level connected to a computer. Postural sway, which measures the displacement of the center of gravity, was assessed on rigid surface, in 2 conditions (eyes opened-closed) and 2 directions (anteroposterior and mediolateral).10 minutesBalance (perturbated surface)The balance plate system used to assess balance and degree of postural sway was the Bertec Balance Check Screener™ (BP5050 Bertec Co., Columbus, OH, USA). The system consists of a 20 × 20-inch platform at ground level connected to a computer. Postural sway, which measures the displacement of the center of gravity, was assessed on perturbated surface, in 2 conditions (eyes opened-closed) and 2 directions (anteroposterior and mediolateral).10 minutesFalse512FalseFalseFalseFalse NCT01335295DMD-2011University of MessinaOTHERSafety Study of Flavocoxid in Duchenne Muscular Dystrophy2014-01COMPLETEDObjective of this study is to evaluate safety and tolerability of flavocoxid administered at the daily oral dose of 500 or 1000 mg/die for one year in DMD patients, alone or in association with steroids (deflazacort on alternate days) started at least one year before. The investigators will also perform a multidimensional clinical evaluation covering functional and muscle strength and quality of life (QoL)assessments.INTERVENTIONALInclusion Criteria: * clinical diagnosis of DMD, confirmed by muscle biopsy and molecular analysis by MPLA; * range of age between 4 -16 years; * unaided ambulation for at least 75 meters, unassisted during the Screening 6MWT. Other personal assistance or use of assistive devices for ambulation (eg, short leg braces, long leg braces or walkers) is not permitted. * follow-up of at least 1 year before baseline with the selected motor outcome measures; * patients able to perform evaluation tests; * patient legally authorized representative (LAR) able to understand and give the informed consent; * absence of contra-indications to the use of flavocoxid (see below); * written informed consent signed by LAR. Exclusion Criteria: * treatment with other drugs analogue, similar or interacting with flavocoxid or immunosuppressive therapy (other than corticosteroids) within 3 months prior to start of study treatment; * exposure to another investigational drug or supplements within 2 months prior to start of study treatment; * presence of cognitive impairment that could influence the performance of the evaluation tests; * history of major surgical procedure within 30 days prior to start of study treatment; * expectation of major surgical procedure (eg, scoliosis surgery) during the 12-month treatment period of the study; * ongoing participation in any other therapeutic clinical study; * expectation of recruitment in the forthcoming exon-51 trial; * requirement for daytime ventilator assistance; * presence of liver-diseases or assumption of any hepatotoxic agent; * screening laboratory values out of the laboratory ranges if clinically meaningful; * prior or ongoing medical condition (eg, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002011-04-122011-04-132014-01-312011-04-142014-02-032011-032013-122013-12falseObjective of this study is to evaluate safety and tolerability of flavocoxid administered at the daily oral dose of 500 or 1000 mg/die for one year in DMD patients, alone or in association with steroids (deflazacort on alternate days) started at least one year before. The investigators will also perform a multidimensional clinical evaluation covering functional and muscle strength and quality of life (QoL)assessments.Duchenne Muscular DystrophyPHASE120All adverse events and laboratory or ECG abnormalities1 yearMotor assessments and biochemical evaluationOutcome measures will include: * Functional tests: 6- minute walk test, North Star Ambulatory Assessment (NSAA) with timed items * Medical Research Council (MRC) score of upper and lower limbs; * Maximum voluntary isometric contraction (MVIC) * Quality of Life (QoL) evaluation ; * Forced vital capacity (FVC) with spirometer . Changes in biomarkers1 yearFalse416FalseFalseFalseFalse NCT025003814045-301Sarepta Therapeutics, Inc.INDUSTRYStudy of SRP-4045 (Casimersen) and SRP-4053 (Golodirsen) in Participants With Duchenne Muscular Dystrophy (DMD)2024-09ACTIVE_NOT_RECRUITINGThe main objective of this study is to evaluate the efficacy of SRP-4045 (casimersen) and SRP-4053 (golodirsen) compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively.INTERVENTIONALInclusion Criteria: * Genotypically confirmed DMD, with genetic deletion amenable to exon 45 or exon 53 skipping * Stable dose of oral corticosteroids for at least 24 weeks prior to Week 1, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight). * Intact right and left biceps or 2 alternative upper muscle groups * Mean 6MWT ≥300 meters and ≤450 meters * Stable pulmonary function: forced vital capacity (FVC) ≥50% predicted Exclusion Criteria: * Treatment with gene therapy at any time * Previous treatment with SMT C1100 within 1 week prior to Week 1 and previous treatment with PRO045 (BMN 045), PRO053 (BMN 053), or PRO051 (BMN 051) within 24 weeks prior to Week 1 * Current or previous treatment with any other experimental treatment within 12 weeks prior to Week 1 * Major surgery within 3 months prior to Week 1 * Presence of other clinically significant illness Other inclusion/exclusion criteria may apply.MALE2024-10-18T00:00:002015-07-142015-07-142024-09-302015-07-162024-10-012016-09-282024-11-152025-10-17trueTrueFalseThe main objective of this study is to evaluate the efficacy of SRP-4045 (casimersen) and SRP-4053 (golodirsen) compared to placebo in participants with DMD with out-of-frame deletion mutations amenable to skipping exon 45 and exon 53, respectively.Duchenne Muscular DystrophyPHASE3228Change From Baseline in the Total Distance Walked During 6MWT at Week 96Baseline, Week 96Change from Baseline in the Total Distance Walked During 6MWT at Week 144 (Week 48 of the Open-Label Extension Period)Baseline, Week 144Change from Baseline in Dystrophin Protein Levels Determined by Western Blot at Weeks 48 or 96Baseline, Week 48 or Week 96Change from Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Weeks 48 or 96Baseline, Week 48 or Week 96Participant's Ability to Rise Independently From the Floor, as indicated by a North Star Ambulatory Assessment (NSAA) SubscoreThe NSAA is a clinician administered scale that rates the participant's performance on various functional activities. During this assessment, the participant's ability to rise independently from the floor (without external support) will be reported as an NSAA subscore of "2" (without modification) or "1" (Gower's maneuver).Week 96, Week 144Time to Loss of Ambulation (LOA)Baseline, Week 96, and Week 144Change From Baseline in the NSAA Total Score at Week 96 and Week 144The NSAA is a clinician administered scale that rates the participant's performance on various functional activities. During this assessment, participants will be asked to perform 17 different functional activities, including a 10 meter walk/run, rising from a sit to standing, standing on 1 leg, climbing a box step, descending a box step, rising from lying to sitting, rising from the floor, lifting the head, standing on heels, and jumping. Participants will be graded as follows: 2 = achieves goal without any assistance; 1 = modified method but achieves goal independent of physical assistance from another person; and 0 = unable to achieve goal independently. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.Baseline, Week 96 and Week 144Change From Baseline in Forced Vital Capacity Percent (FVC%) Predicted at Week 96 and Week 144Baseline, Week 96 and Week 144False613TrueFalseFalseFalse NCT01982695IRB12-00149Nationwide Children's HospitalOTHERCardiomyopathy in DMD: Lisinopril vs. Losartan2017-01COMPLETEDThis trial is a double-blind randomized clinical trial of lisinopril versus losartan for the treatment of cardiomyopathy in Duchenne Muscular Dystrophy (DMD). Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have been reported to delay the onset and progression of left ventricle dysfunction in children with DMD. Multiple studies show therapeutic efficacy of losartan in animals with cardiomyopathy related to muscular dystrophy and in patients with cardiomyopathy from diverse causes. ARBs are often reserved for patients in whom heart failure is not adequately treated or where side effects preclude the use of an ACEi. However, in DMD, losartan might be a better choice as a first line drug because of studies demonstrating a potential benefit for skeletal muscle in the mdx mouse. Considering that both skeletal and cardiac muscles are major contributors of the disability of DMD, a drug that could improve both heart and skeletal muscles simultaneously would need consideration as the drug of choice for the cardiomyopathic DMD patient.INTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy patients of all ages * Null mutation of the dystrophin gene or muscle with \<5% dystrophin * Doppler echocardiogram with ejection fraction (EF) \<55% within 30 days of enrollment * Ability to cooperate for testing * Glucocorticoid treatment acceptable including daily or weekend administration of prednisone or deflazacort Exclusion Criteria: * Patients with EF 55% or greater * Patients with EF \<40% after washout * Patients taking \>5 mg lisinopril, or \>25 mg losartan or \>5 mg enalapril * Skeletal deformities or pulmonary anatomical variants that preclude consistent measures of Doppler echocardiographyMALE2024-10-18T00:00:002013-10-292013-11-052017-01-312013-11-132017-03-212009-032012-082013-09falseThis trial is a double-blind randomized clinical trial of lisinopril versus losartan for the treatment of cardiomyopathy in Duchenne Muscular Dystrophy (DMD). Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have been reported to delay the onset and progression of left ventricle dysfunction in children with DMD. Multiple studies show therapeutic efficacy of losartan in animals with cardiomyopathy related to muscular dystrophy and in patients with cardiomyopathy from diverse causes. ARBs are often reserved for patients in whom heart failure is not adequately treated or where side effects preclude the use of an ACEi. However, in DMD, losartan might be a better choice as a first line drug because of studies demonstrating a potential benefit for skeletal muscle in the mdx mouse. Considering that both skeletal and cardiac muscles are major contributors of the disability of DMD, a drug that could improve both heart and skeletal muscles simultaneously would need consideration as the drug of choice for the cardiomyopathic DMD patient.Duchenne Muscular Dystrophy (DMD);CardiomyopathyNA23Cardiac Ejection Fraction as Measured by EchocardiogramMean cardiac ejection fraction as measured by echocardiogram at 12 month study visit. Cardiac ejection fractions were measured using the biplane Simpson's rule using images obtained from the apical 4 chamber views of the heart.12 month visitFalseTrueFalseFalseFalse NCT05436210GO 22/414Hacettepe UniversityOTHERPostural and Anthropometric Properties of Foot and Ankle of Patients With DMD2023-01COMPLETEDIntroduction: Progressive muscle weakness, joint contractures and body alignment disorders seen in patients with Duchenne Muscular Dystrophy (DMD) adversely affect the foot structure of the patients. Objective: The aim of this study is to examine the relationship between foot posture, performance and ambulation in patients with DMD. Method: The patient with ambulatory DMD will be included in the study. The foot postures of the patients will be evaluated with the Foot Posture Index. Relationships between the Foot Posture Index and performance tests (6 minute walk test, timed performance tests (10m walking, Gower's, climb/descend 4 stair)) and the North Star Ambulation Evaluation, an ambulation evaluation, will be examined.OBSERVATIONALInclusion Criteria: 1.5 to 18 years old 2. Not to have lost his ambulation 3. Agreeing to participate in the research voluntarily Exclusion Criteria: 1. Having serious mental and psychological problems, 2. Having lost his ambulation 3. Inability to cooperate adequately with the physiotherapist who made the evaluations, 4. Any injury and/or surgery to the lower extremities in the last 6 months.MALE2024-10-18T00:00:002022-06-232022-06-232023-01-032022-06-292023-01-042022-06-232022-10-202022-11-23falseFalseFalseIntroduction: Progressive muscle weakness, joint contractures and body alignment disorders seen in patients with Duchenne Muscular Dystrophy (DMD) adversely affect the foot structure of the patients. Objective: The aim of this study is to examine the relationship between foot posture, performance and ambulation in patients with DMD. Method: The patient with ambulatory DMD will be included in the study. The foot postures of the patients will be evaluated with the Foot Posture Index. Relationships between the Foot Posture Index and performance tests (6 minute walk test, timed performance tests (10m walking, Gower's, climb/descend 4 stair)) and the North Star Ambulation Evaluation, an ambulation evaluation, will be examined.Duchenne Muscular Dystrophy;Ambulation Difficulty;Posture Disorders in Children;Ambulation Disorder, Neurologic48foot posture index - 6The Foot Posture Index - 6 (FPI-6) was evaluated with each child standing and using the original protocol. FPI-6 values ranged from -2 to +2 for each of the six criteria and from -12 to +12 for the total score, indicative of position of each foot along the supinated to pronated continuum of foot posture.10 minutes6 min walk test (6MWT)Six Minute Walk Test was used commonly in DMD were found to be valid, reliable and easy to apply in the clinic. Children were asked to walk during 6 minutes as fast as they can at a corridor specified by two cones and walking distances were recorded as meter (m) for 6MWT. The time passed during timed performance tests were recorded as seconds.6 minutesnorth star ambulation assessmentPatients' ambulation will be evaluated with the North Star Ambulation Assessment (NSAA). The NSAA consists of 17 items and evaluates ambulation with functional activities such as walking, getting up from a chair, going up and down stairs, and running. Each item is scored in the range of 0-2 points and the total score is in the range of 0-34. High score indicates better ambulation status10 minutestimed performance testAscending-descending standard 4 steps, walking 10m, standing from lying position were used in order to assess the performance of children.The time passed during timed performance tests were recorded as seconds.ten minutesFalse518FalseFalseFalseFalse NCT0015925005/MRE12/32Imperial College LondonOTHERSafety and Efficacy Study of Antisense Oligonucleotides in Duchenne Muscular Dystrophy2019-11COMPLETEDDuchenne muscular dystrophy (DMD), a fatal muscle degenerative disorder, arises from mutations in the dystrophin gene. Antisense therapy with the use of antisense oligonucleotides (AON) has the potential to restore effectively the production of dystrophin, the defective protein, in \>70% of DMD. This could result in increased life expectancy through improved muscle survival and function. Recent scientific research has demonstrated the potential of this technique to skip mutated dystrophin exons, restore the reading frame and generate functional dystrophin protein. Having demonstrated proof-of-principle in human cell culture and animal model studies, we now intend to determine efficacy and safety of this approach to induce dystrophin exon skipping in children with DMD. The specific aim of this phase I/II study is to assess efficacy (dystrophin production) and safety of intramuscular administered morpholino oligomer directed against exon 51 (AVI-4658 PMO). We are performing parallel preclinical studies to develop methods of systemic delivery that will be necessary for future phase II/III clinical studies.INTERVENTIONALInclusion Criteria: 1. Subject is male ≥ 10 years and ≤ 17 years of age at the time of study drug administration. 2. Subject has clinical diagnosis compatible with Duchenne's Muscular Dystrophy (DMD) and evidence of mutational and dystrophin defects from muscle biopsy consistent with DMD (out-of frame deletions, absent dystrophin).Eligible deletions are those that can be rescued by the skipping of exon 51 \[45-50; 47-50; 48-50; 49-50; 50; 52; 52-63\]. 3. Subject has had a muscle biopsy analysed, showing \<5% revertant fibres present. Biopsy may be collected at the time of DMD diagnosis or as part of protocol screening procedures. 4. Subject is unable to ambulate or stand independently. 5. Subject has Stage 1 to 3 EDB muscle preservation determined by MRI. 6. Subject has a forced vital capacity ≥ 25% confirmed within 3 months from Day One. 7. Subject has mean oxygen saturation monitoring \> 94% in overnight domiciliary overnight sleep study within 3 months of Day One. 8. Subject has the ability to comply with all study evaluations and return for all study. 9. Subject and parent have psychiatric adjustments, adequately supportive psychosocial circumstances and a full understanding of study aims process and likely outcomes. Exclusion Criteria: 1. Subject has had external digitorum brevis (EDB) muscle removed. 2. Subject has Stage 4 EDB muscle preservation determined by MRI. 3. Subject has a left ventricular shortening fraction of \< 25% and/or an ejection fraction of \< 35% by echocardiography at visit one or within three months of visit one. 4. Subject has evidence of nocturnal hypoventilation (mean oxygen saturation at night of ≤ 94%) confirmed via overnight sleep study at Visit One (as screening procedure) or within 3 months of Visit One by overnight sleep study. 5. Subject has severe respiratory insufficiency defined by the need for invasive or non-invasive mechanical ventilation (does not include nocturnal ventilatory support). 6. Subject has severe cognitive dysfunction rendering them unable to understand and collaborate with study protocol. 7. Subject has immune deficiency or autoimmune disease. 8. Subject has a known bleeding disorder or has received chronic anticoagulant treatment within three months of study entry. 9. Subject has received pharmacologic treatment, apart from corticosteroids, that might affect muscle strength or function within 8 weeks of study entry (viz.,anabolic steroids, creatine protein supplementation, albuterol or other beta agonists). 10. Subject has had surgery within 3 months of study entry or planned for anytime during study. 11. Subject has active significant illness at time of study entry. 12. Subject has is unable to undergo MRI testing (viz., has metal implants). 13. Subject or parent has active psychiatric disorder, has adverse psychosocial circumstances, recent significant emotional loss, history of depressive or anxiety disorders that might interfere with protocol completion or compliance. 14. Subject has any known allergies to products likely to be used in the study (viz.,antiseptics, anaesthetics). 15. Subject has used any experimental treatments or has participated in any clinical trial within 4 weeks of study entry. 16. Subject has used intranasal, inhaled or topical steroids for a condition other than muscular dystrophy within 1 weeks of study entry.MALE2024-10-18T00:00:002005-09-082005-09-082019-11-182005-09-122019-12-052007-10-262008-122009-03-31trueFalseFalseDuchenne muscular dystrophy (DMD), a fatal muscle degenerative disorder, arises from mutations in the dystrophin gene. Antisense therapy with the use of antisense oligonucleotides (AON) has the potential to restore effectively the production of dystrophin, the defective protein, in \>70% of DMD. This could result in increased life expectancy through improved muscle survival and function. Recent scientific research has demonstrated the potential of this technique to skip mutated dystrophin exons, restore the reading frame and generate functional dystrophin protein. Having demonstrated proof-of-principle in human cell culture and animal model studies, we now intend to determine efficacy and safety of this approach to induce dystrophin exon skipping in children with DMD. The specific aim of this phase I/II study is to assess efficacy (dystrophin production) and safety of intramuscular administered morpholino oligomer directed against exon 51 (AVI-4658 PMO). We are performing parallel preclinical studies to develop methods of systemic delivery that will be necessary for future phase II/III clinical studies.Duchenne Muscular DystrophyPHASE1PHASE27Number of Participants With Adverse Events Related to AVI-4568Number of Subjects with Treatment Emergent Adverse Events (TEAEs) and Serious TEAEsBaseline up to Day 120Number of Participants With Injection Site ReactionsFrom the Day of Screening to Day 3Number of Subjects With Clinically Significant Change From Baseline in Laboratory ValuesAssessed by light microscopy and immunocytochemistry to detect the differences in inflammatory infiltrates between the AVI-4568 and placebo-treated EDB musclesFrom the Day of Screening up to Day 28Number of Participants With Induced Skipping of Exon 51 in the Treated Extensor Digitorum Brevis (EDB) Muscle Determined by Reverse Transcription Polymerase Chain ReactionInduced Skipping of Exon 51 in the Treated Extensor Digitorum Brevis (EDB) Muscle Determined by Reverse Transcription Polymerase Chain Reaction was assessed by Sequencing of the RT-PCR productsDay 14 to Day 28Number of Participants With Restoration of Dystrophin Protein Expression Measured by ImmunocytochemistryDay 14 to Day 28Number of Participants With Restoration of Dystrophin Protein Expression Measured by Western Blot AnalysisDay 14 to Day 28False1017FalseFalseFalseFalse NCT02834650DMD2016Stanford UniversityOTHERValidating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD2022-05COMPLETEDThis study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD. Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD. Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.INTERVENTIONALInclusion Criteria: * Healthy boys or pediatric patients with DMD age 7 to 21 * Able \& willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation * Drug regimen (if applicable) stable for at least 3 months prior to participation Exclusion Criteria: * Renal insufficiency (GFR\<40 mL/min/m2) * Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator) * Claustrophobia that prevents an MRI exam * Known allergy to MRI contrast agents * Serum potassium level of \>5.0 mmol/L * Signs and symptoms of heart failureMALE2024-10-18T00:00:002016-07-132016-07-132022-05-042016-07-152022-05-102017-02-012022-03-302022-03-30trueFalseFalseThis study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD. Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD. Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.Muscular Dystrophy, DuchenneNA89Myocardial Tissue CharacterizationFocal and diffuse fibrosis, intra myocardial fat, edema plus water mobility6 monthsMyocardial Functional CharacterizationStrain imaging and rotational mechanics6 monthsGenomic AnalysisProposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis4 yearsTrue721FalseFalseFalseFalse NCT0365522318-0009RTI InternationalOTHEREarly Check: Expanded Screening in Newborns2024-03ENROLLING_BY_INVITATIONEarly Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.OBSERVATIONALInclusion Criteria: * Newborn has newborn screening in North Carolina * Newborn lives in North Carolina or South Carolina * Newborn is less than 31 days old * Person giving consent must have legal custody of the newborn. When the mother retains custody, they must be the person to give consent. * Person giving consent must be able to interact with the online permission portal (available in English and Spanish) and give permission online Exclusion Criteria: * A newborn screening (NBS) sample is unavailable for the newborn * Insufficient NBS sample remains to conduct the screeningALL2024-10-18T00:00:002018-08-162018-08-292024-03-252018-08-312024-03-272018-10-152024-11-302025-12-31falseFalseFalseEarly Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and families who screen positive, and 3) evaluate the Early Check program. The Early Check screening will lead to earlier identification of newborns with rare health conditions in addition to providing important data on the implementation of this model program. Early diagnosis may result in health and development benefits for the newborns. Infants who have newborn screening in North Carolina will be eligible to participate, equating to over 120,000 eligible infants a year. Over 95% of participants are expected to screen negative. Newborns who screen positive and their parents are invited to additional research activities and services. Parents can enroll eligible newborns on the Early Check electronic Research Portal. Screening tests are conducted on residual blood from existing newborn screening dried blood spots. Confirmatory testing is provided free-of-charge for infants who screen positive, and carrier testing is provided to mothers of infants with fragile X. Affected newborns have a physical and developmental evaluation. Their parents have genetic counseling and are invited to participate in surveys and interviews. Ongoing evaluation of the program includes additional parent interviews.Spinal Muscular Atrophy;Fragile X Syndrome;Fragile X - Premutation;Duchenne Muscular Dystrophy;Hyperinsulinemic Hypoglycemia, Familial 1;Diabetes Mellitus;Adrenoleukodystrophy, Neonatal;Medium-chain Acyl-CoA Dehydrogenase Deficiency;Very Long Chain Acyl Coa Dehydrogenase Deficiency;Beta-ketothiolase Deficiency;Severe Combined Immunodeficiency Due to Adenosine Deaminase Deficiency;Primary Hyperoxaluria Type 1;Congenital Bile Acid Synthesis Defect Type 2;Pyridoxine-Dependent Epilepsy;Hereditary Fructose Intolerance;Hypophosphatasia;Hyperargininemia;Mucopolysaccharidosis Type 6;Argininosuccinic Aciduria;Citrullinemia, Type I;Wilson Disease;Maple Syrup Urine Disease, Type 1A;Maple Syrup Urine Disease, Type 1B;Biotinidase Deficiency;Neonatal Severe Primary Hyperparathyroidism;Intrinsic Factor Deficiency;Usher Syndrome Type 1D/F Digenic (Diagnosis);Cystic Fibrosis;Stickler Syndrome Type 2;Stickler Syndrome Type 1;Alport Syndrome, Autosomal Recessive;Alport Syndrome, X-Linked;Carbamoyl Phosphate Synthetase I Deficiency Disease;Carnitine Palmitoyl Transferase 1A Deficiency;Carnitine Palmitoyltransferase II Deficiency;Cystinosis;Chronic Granulomatous Disease;Cerebrotendinous Xanthomatoses;Maple Syrup Urine Disease, Type 2;Severe Combined Immunodeficiency Due to DCLRE1C Deficiency;Thyroid Dyshormonogenesis 6;Thyroid Dyshormonogenesis 5;Supravalvar Aortic Stenosis;Factor X Deficiency;Hemophilia A;Hemophilia B;Tyrosinemia, Type I;Fructose 1,6 Bisphosphatase Deficiency;Glycogen Storage Disease Type I;G6PD Deficiency;Glycogen Storage Disease II;Galactokinase Deficiency;Mucopolysaccharidosis Type IV A;Galactosemias;Guanidinoacetate Methyltransferase Deficiency;Agat Deficiency;Glutaryl-CoA Dehydrogenase Deficiency;Gtp Cyclohydrolase I Deficiency;Hyperinsulinism-Hyperammonemia Syndrome;Primary Hyperoxaluria Type 2;3-Hydroxyacyl-CoA Dehydrogenase Deficiency;Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency;Mitochondrial Trifunctional Protein Deficiency;Sickle Cell Disease;Beta-Thalassemia;Holocarboxylase Synthetase Deficiency;3-Hydroxy-3-Methylglutaric Aciduria;Primary Hyperoxaluria Type 3;Hermansky-Pudlak Syndrome 1;Hermansky-Pudlak Syndrome 4;Apparent Mineralocorticoid Excess;HSDB;CBAS1;Mucopolysaccharidosis Type 2;Mucopolysaccharidosis Type 1;Severe Combined Immunodeficiency, X Linked;Severe Combined Immunodeficiency Due to IL-7Ralpha Deficiency;Diabetes Mellitus, Permanent Neonatal;Isovaleric Acidemia;Severe Combined Immunodeficiency T-Cell Negative B-Cell Positive Due to Janus Kinase-3 Deficiency (Disorder);Jervell and Lange-Nielsen Syndrome 2;Hyperinsulinemic Hypoglycemia, Familial, 2;Diabetes Mellitus, Permanent Neonatal, With Neurologic Features;Jervell and Lange-Nielsen Syndrome 1;Lysosomal Acid Lipase Deficiency;CblF;3-Methylcrotonyl CoA Carboxylase 1 Deficiency;3-Methylcrotonyl CoA Carboxylase 2 Deficiency;Waardenburg Syndrome Type 2A;Methylmalonic Aciduria cblA Type;Methylmalonic Aciduria cblB Type;Methylmalonic Aciduria and Homocystinuria Type cblC;MAHCD;Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency;Congenital Disorder of Glycosylation Type 1B;Mthfr Deficiency;Methylcobalamin Deficiency Type Cbl G (Disorder);Methylcobalamin Deficiency Type cblE;Usher Syndrome, Type 1B;N-acetylglutamate Synthase Deficiency;Ornithine Transcarbamylase Deficiency;Phenylketonurias;Waardenburg Syndrome Type 1;Congenital Hypothyroidism;Propionic Acidemia;Usher Syndrome, Type 1F;Pancreatic Agenesis 1;Hereditary Hypophosphatemic Rickets;Glycogen Storage Disease IXB;Glycogen Storage Disease IXC;MOWS;Epilepsy, Early-Onset, Vitamin B6-Dependent;Pyridoxal Phosphate-Responsive Seizures;Pituitary Hormone Deficiency, Combined, 1;Ptsd;Dihydropteridine Reductase Deficiency;Severe Combined Immunodeficiency Due to RAG1 Deficiency;Severe Combined Immunodeficiency Due to RAG2 Deficiency;Retinoblastoma;Multiple Endocrine Neoplasia Type 2B;Pseudohypoaldosteronism, Type I;Liddle Syndrome;Biotin-Responsive Basal Ganglia Disease;SCD;DIAR1;GSD1C;Acrodermatitis Enteropathica;Thyroid Dyshormonogenesis 1;Riboflavin Transporter Deficiency;Waardenburg Syndrome, Type 2E;SRD;Congenital Lipoid Adrenal Hyperplasia Due to STAR Deficiency;Barth Syndrome;Adrenocorticotropic Hormone Deficiency;Transcobalamin II Deficiency;Thyroid Dyshormonogenesis 3;Segawa Syndrome, Autosomal Recessive;Autosomal Recessive Nonsyndromic Hearing Loss;Thyroid Dyshormonogenesis 2A;Congenital Isolated Thyroid Stimulating Hormone Deficiency;Hypothyroidism Due to TSH Receptor Mutations;Usher Syndrome Type 1C;Usher Syndrome Type 1G (Diagnosis);Von Willebrand Disease, Type 3;Combined Immunodeficiency Due to ZAP70 Deficiency;Adenine Phosphoribosyltransferase Deficiency;Metachromatic Leukodystrophy;Canavan Disease;Menkes Disease;Carbonic Anhydrase VA Deficiency;Developmental and Epileptic Encephalopathy 2;17 Alpha-Hydroxylase Deficiency;Smith-Lemli-Opitz Syndrome;Krabbe Disease;Glutathione Synthetase Deficiency;Mucopolysaccharidosis Type 7;Rett Syndrome;Molybdenum Cofactor Deficiency, Type A;Niemann-Pick Disease, Type C1;Niemann-Pick Disease Type C2;Ornithine Aminotransferase Deficiency;3-Phosphoglycerate Dehydrogenase Deficiency;Leber Congenital Amaurosis 2;Dravet Syndrome;Mucopolysaccharidosis Type 3 A;Ornithine Translocase Deficiency;Carnitine-acylcarnitine Translocase Deficiency;Glucose Transporter Type 1 Deficiency Syndrome;Creatine Transporter Deficiency;Niemann-Pick Disease Type A;Pitt Hopkins Syndrome;Tuberous Sclerosis 1;Tuberous Sclerosis 2;Ataxia With Isolated Vitamin E Deficiency;Angelman Syndrome;Prader-Willi Syndrome;Homocystinuria;Permanent Neonatal Diabetes Mellitus;Transient Neonatal Diabetes Mellitus;Factor VII Deficiency;Glycogen Storage Disease Type IXA1;Glycogen Storage Disease, Type IXA2;Glycogen Storage Disease IC;Glycogen Storage Disease Type IB;Central Hypoventilation Syndrome With or Without Hirschsprung Disease30000Incidence Rates: Number of newborns who screen positive comparative to the whole sampleIncidence rates of infants who screen positive for conditions on the Early Check panel.Every 6 months for approximately three yearsImpact of Screening: Semi-structured parent interviews.Each project year, we will recruit mothers whose newborns screen negative and mothers whose newborns screen positive to participate in an approximately 30-minute, semi-structured telephone interview about their perceptions of Early Check and the impact of screening results.Measured within 6 months of participant screening resultsTrue131FalseFalseFalseFalse NCT0458790810053050Taiho Pharmaceutical Co., Ltd.INDUSTRYA Phase 3 Study of TAS-205 in Patients With Duchenne Muscular Dystrophy（REACH-DMD）2024-08ACTIVE_NOT_RECRUITINGThe purpose of this study is to evaluate the efficacy and safety of TAS-205 in patients with Duchenne muscular dystrophyINTERVENTIONALKey Inclusion Criteria \[Ambulatory Cohort\] * Patients with a diagnosis of dystrophinopathy as determined by a dystrophin genetic test at the time of informed consent, symptoms or signs characteristic to DMD (e.g., proximal muscular weakness, waddling gait, Gower's sign) * Patients aged 5 years or more at the time of informed consent * Patients weighing more than 7.5 kg and less than 60 kg at the time of screening test * Patients who meet all of the following at the time of screening test * walk by themselves * time to rise from the floor on own is ≥ 3 seconds and \<10 seconds * Patients who can expect a 6-minute walking test of 350 meters or more * If taking oral glucocorticoids no significant change in the total daily or dosing 6 months before enrollment. \[Non-ambulatory Cohort\] * Patients with a diagnosis of DMD as determined by a dystrophin genetic test at the time of informed consent. * Patients weighing more than 7.5 kg and less than 90 kg at the time of screening test * Patients who meet all of the following criteria as definition of non-ambulatory at the time of enrollment * Use of a wheelchair on a daily basis. * No orthopedic pathology (fracture, sprain, injury, etc.) or acute deterioration associated with surgical treatment. * Inability to walk 10 meters within 30 seconds on the 10-meter run/walk test at enrollment. * Patients with a Brooke Score of 5 or less in the arm and shoulder at enrollment. * Patients who are able to take the drug orally throughout the treatment period (crushed or suspended doses are not acceptable) * If taking oral glucocorticoids no significant change in the total daily or dosing 90 days prior to obtaining consent, or not taking oral glucocorticoids for more than 90 days prior to obtaining consent and whose symptoms are stable. * Patients on angiotensin-converting enzyme inhibitors, beta-blockers, and angiotensin II receptor blockers for the treatment (including prophylaxis) of heart failure who are symptomatically stable with no change in dosage (prescription basis) within 90 days prior to enrollment. Key exclusion Criteria \[Ambulatory Cohort\] * Patients who have serious concomitant drug hypersensitivity or medical history * Patients who have used cyclooxygenase-1 (COX-1) or COX-2 inhibitors, or nonsteroidal anti-inflammatory drugs (NSAIDs) during 7 days before the measurement of time to rise from the floor in the screening period * Patients who have incurred an injury (trauma/damage) that may affect muscle strength or motor function within 3 months before enrollment or who have an uncured injury (trauma/damage) that may affect muscle strength or motor function at the enrollment * Patients who have received gene-/cell-based therapy or stop-codon readthrough therapy with antisense oligonucleotides * Patients who have participated in another clinical trial and received a study drug within 90 days before study drug administration in the present study * Patients with a left ventricular ejection fraction (EF) of \<40% or left ventricular fractional shortening (FS) of \<25% on the cardiac ultrasonography (echocardiography) at observation period \[Non-ambulatory Cohort\] * Patients with severe cardiac disease (including a history of pacemaker surgery) * Patients with left ventricular EF \<40% on echocardiography within 14 days prior to enrollment * Patients with %FVC less than 40% within 14 days prior to enrollment * Patients with respiratory diseases such as asthma, bronchitis, COPD, bronchiectasis, emphysema, pneumonia, etc. (including chronic use of beta2 agonists, inhaled steroids, sympathomimetics, anticholinergic agents, etc.) * Patients on continuous ventilator use (excluding use while sleeping) * Patients who have undergone surgery within 180 days prior to enrollment that may affect muscle strength or exercise, pulmonary function, or cardiac function, or are planning such surgery during the study period * Injury (trauma/injury) within 90 days prior to enrollment that may affect muscle strength or motor, pulmonary, or cardiac function, or that has not healed at the time of enrollment * Patients who are judged by the principal investigator or subinvestigator to have brain dysfunction such as intellectual disability, autistic tendencies, and attention deficit hyperactivity disorder that would interfere with the performance of efficacy and safety evaluation * Patients with systemic allergic or chronic inflammatory diseases that may interfere with the interpretation of efficacy or safety data (except allergic rhinitis, localized or mild atopic dermatitis, eczema, etc.) * Patients enrolled in Treatment Phase Part A of this study's Ambulatory CohortMALE2024-10-18T00:00:002020-10-132020-10-132024-08-132020-10-142024-08-142020-11-012027-052027-05trueFalseFalseThe purpose of this study is to evaluate the efficacy and safety of TAS-205 in patients with Duchenne muscular dystrophyDuchenne Muscular DystrophyPHASE3104Mean change from baseline to Week 52 in the time to rise from the floorAmbulatory CohortBaseline to Week 52 of treatmentIncidence of Adverse Events and Adverse ReactionsNon-ambulatory CohortWeek 52Time measured in the time to rise from the floor test, as well as the change from baseline in each measured valueAmbulatory CohortBaseline to 52 weeks of treatmentChange from baseline in the Timed Up and Go Test (TUG)Ambulatory Cohort Timed Up and Go Test (TUG) The time required for the subject to stand up from a sitting position on a table (chair), walk to a cone placed 3 m ahead as quickly as possible, and then return to the table will be evaluated. The time required for the subject to stand up from a sitting position on a table (chair), walk to a cone placed 3 m ahead as quickly as possible, and then return to the table will be evaluated.Baseline to 52 weeks of treatmentChange from baseline in North Star Ambulatory Assessment (NSAA)Ambulatory CohortBaseline to 52 weeks of treatmentChange from baseline in Six-minutes Walk Test (6MWT)Ambulatory CohortBaseline to 52 weeks of treatmentMeasured values of Muscle volume index (MVI), Percent Muscle volume index (%MVI) and skeletal muscle mass in skeletal muscle computed tomography (CT), as well as the change from baseline in each measured valueAmbulatory CohortBaseline to 52 weeks of treatmentAssessment of upper limb function: The Brooke upper extremity scale, measured values of performance of the upper limb (PUL) and change from baseline in measured valuesNon-ambulatory Cohortweek 52Change from baseline in grip strengthNon-ambulatory Cohortweek 52Pulmonary function tests: measured effort lung capacity (FVC, %FVC), volume in 1 second (Forced Expiratory Volume :FEV1.0), fraction in 1 second (FEV1.0%), and change from baseline (at enrollment) of measured values.Non-ambulatory Cohortweek 52Echocardiography: Measured EF and FS and change from baseline in measured valuesNon-ambulatory Cohortweek 52False5FalseFalseFalseTrue NCT050169082019P001504Massachusetts General HospitalOTHERExtracellular RNA Biomarkers of Duchenne Muscular Dystrophy2023-10RECRUITINGCurrent methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample.OBSERVATIONALInclusion Criteria: * Subjects with DMD or BMD based on genetic testing. Control subjects are unknown to have any other muscular dystrophy by history and may have had no genetic testing. * Able to provide informed consent or assent for participation in the study. * Demographic characteristics for biofluid collection: Males age 5 years and older with DMD or BMD; males and females ages 18 years and older without muscular dystrophy. Exclusion Criteria: * Medical history of any of the following: State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive. * Use of anti-platelet drugs within 7 days prior to blood draw; use of anticoagulants within 60 days prior to blood draw. * Inability or unwillingness of the subject to give written informed consent.ALL2024-10-18T00:00:002021-08-162021-08-202023-10-102021-08-232023-10-122019-11-302023-112024-05falseFalseFalseCurrent methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample.Duchenne Muscular Dystrophy100Extracellular RNA in biofluidsThe extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity.4 years5FalseFalseFalseFalse NCT04240314AAV9 Dup2 U7Nationwide Children's HospitalOTHERAAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.2023-02ACTIVE_NOT_RECRUITINGOpen-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.INTERVENTIONALInclusion Criteria: * Age greater than 6 months and less than 14 years * Confirmed duplication of exon 2 in the DMD gene using a clinically accepted technique that completely defines the mutation * Pre-ambulant (not yet walking) or ambulant (as defined by the ability to walk 10 meters without assistance) * Males of any ethnic group will be eligible * Ability to cooperate with muscle testing * In subjects age 4 and above, stable dose and regimen of corticosteroid therapy (prednisone, deflazacort, or their generic forms) for at least 12 weeks prior to gene transfer. Exclusion Criteria: * Active viral infection based on clinical observations * Symptoms or signs of cardiomyopathy, including: 1. Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs 2. Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL * Concomitant illness or requirement for chronic drug treatment that in the opinion of the SI creates unnecessary risks for gene transfer * AAV9 binding antibody titers ≥ 1:400 as determined by ELISA immunoassay * Abnormal laboratory values in the clinically significant range as listed in Table 7, based upon normal values in the Nationwide Children's Hospital Laboratory.MALE2024-10-18T00:00:002020-01-222020-01-222023-02-072020-01-272023-02-092020-01-152023-11-192025-11-19trueTrueFalseOpen-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.Duchenne Muscular DystrophyPHASE1PHASE23Monitoring for the development of unacceptable toxicity.Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities, as defined by CTCAE 5.0.2 yearsChange in dystrophin expression from baseline following treatment with scAAV9.U7.ACCA.Expression of dystrophin will be measured by immunofluorescent staining in muscle biopsies taken before and after gene therapy.1 yearChange in dystrophin expression from baseline following treatment with scAAV9.U7.ACCA.Expression of dystrophin will be quantified by western blotting in muscle biopsies taken before and after gene therapy.1 yearChanges in exon 2 inclusion in the dystrophin mRNA transcript.Exon 2 inclusion will be measured using RT-PCR analysis.1 yearFalse613TrueFalseFalseFalse NCT05244395GO 20/1058Hacettepe UniversityOTHERDevelopment of a New Instrument to Evaluate Gait Characteristics of Individuals With Duchenne Muscular Dystrophy2022-02COMPLETEDThe aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which included 10 physiotherapists who had experience in the management of patients with DMD over the 2-round Delphi method, and the Content Validity Index (CVI) was calculated. The final version of the DMD-GAS that was agreed upon the experts consisted of 10 items, and each item scored between 0 and 2. The intra-rater reliability was established by the video analysis of children with a 1-month interval and inter-rater reliability was determined by the scores of 3 physiotherapists. The criterion validity was determined by investigating the relationship between the total score of the DMD-GAS and Motor Function Measure (MFM), 6 Minute Walk Test (6MWT), and the data obtained from GAITRite system.INTERVENTIONALInclusion Criteria: 1. Being diagnosed with DMD 2. Be between Levels I-V according to Brooke Lower Limb Extremity Functional Classification 3. Being between the ages of 5-18 4. Agreeing to participate in the research voluntarily Exclusion Criteria: 1. Insufficient cooperation with the physiotherapist, 2. Have had any injury and/or surgery of the lower extremities in the last 6 months, 3. Having neurological problems in addition to DMD. -MALE2024-10-18T00:00:002022-02-082022-02-082022-02-182022-02-172022-03-072020-02-102021-11-302022-02-10falseFalseFalseThe aim of this study was to develop a gait assessment instrument for Duchenne Muscular Dystrophy patients (DMD-GAS), and investigate its validity and reliability.The scale was developed considering the expert opinions which included 10 physiotherapists who had experience in the management of patients with DMD over the 2-round Delphi method, and the Content Validity Index (CVI) was calculated. The final version of the DMD-GAS that was agreed upon the experts consisted of 10 items, and each item scored between 0 and 2. The intra-rater reliability was established by the video analysis of children with a 1-month interval and inter-rater reliability was determined by the scores of 3 physiotherapists. The criterion validity was determined by investigating the relationship between the total score of the DMD-GAS and Motor Function Measure (MFM), 6 Minute Walk Test (6MWT), and the data obtained from GAITRite system.Duchenne Muscular Dystrophy;Gait Disorders in Children;Gait Disorders, NeurologicNA56Duchenne Muscular Dystrophy Gait Assessment Scale (DMD-GAS)The scale which developed specifically for DMD with this study. The DMD-GAS was designed to consist of 10 items and each item scored as 0 (excessive compensation in the relevant body part), 1 (minimal compensation) or 2 (no compensation). Low score indicate compensated gait.15-20 minutesMotor Function Measure (MFM)MFM, which was valid and reliable in Neuromuscular Diseases, was used for gross motor function assessment. The items in MFM, which evaluate functions in 3 different sections (D1, standing position and transfers; D2, axial and proximal motor function; D3, distal motor function) in 32 items in total, are scored between 0-3. 0; cannot initiate any movement and maintain the starting position, 1; partially completes the exercise, 2; performs the exercise slowly and visibly clumsily, with compensations, 3; performs the exercise in the specified standard pattern. High scores indicate higher motor function and the result is expressed as a percentage of the maximum possible score to enable comparison with other scores20-30 minutes6 meter walking test (6MWT)6MWT is an assessment that was developed by Balke in the 1960s and has validity and reliability for DMD patients. The maximum distance that the patient can walk in 6 minutes is recorded as meters.6 minutesFalse518FalseFalseFalseFalse NCT04337112VILT-501NS Pharma, Inc.INDUSTRYThe Expanded Access Use of Viltolarsen in Duchenne Muscular Dystrophy With Confirmed Exon 53 Amenable Mutation2020-08APPROVED_FOR_MARKETINGThis is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.EXPANDED_ACCESSInclusion Criteria: * Male ≥ 3 and ≤ 12 years of age * Clinical signs compatible with DMD * Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 53 to restore the dystrophin messenger ribonucleic acid (mRNA) reading frame * Able to walk independently without assistive device * Not able to participate in a Phase 3 trial Exclusion Criteria: * Chronic systemic fungal or viral infections * An acute illness within 4 weeks prior to the first dose of viltolarsen * Symptomatic cardiomyopathy * Patient has a previous or ongoing medical condition, medical history, physical findings, or laboratory abnormality that could affect participant safety in the opinion of the treating physician * Surgery within the 3 months prior to the first anticipated administration of viltolarsen and in the opinion of the treating physician would impact weekly treatment schedule * Positive test results for hepatitis B antigen, hepatitis C antibody, or human immunodeficiency virus (HIV) antibody at screening * Currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of viltolarsen * Previously enrollment in any viltolarsen study. * Currently taking any other exon skipping agent or has taken any other exon skipping agent within 2 weeks prior to the first dose of viltolarsen (would need to be discontinued in order to be eligible) * Any gene therapy for DMD * Inadequate renal function as defined by a serum cystatin C \> 1.5 x upper limit of normal (ULN). If the value is \> 1.5 x ULN then the measurement can be repeated once. If repeat measurement is still \> 1.5 x ULN then the patient should be excluded.MALE2024-10-18T00:00:002020-04-022020-04-022020-08-142020-04-072020-08-18This is an open label expanded access program for boys, 3 to 12 years old, for the treatment of Duchenne muscular dystrophy (DMD) with confirmed mutation(s) in the dystrophin gene that is amenable to skipping of exon 53.Muscular Dystrophy, Duchenne;DMDFalseFalseFalseFalse NCT05657938SB-000-22-001Solid Biosciences Inc.INDUSTRYEvaluation of Home Based Assessments on Participants With DMD2022-12COMPLETEDThis study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.OBSERVATIONALInclusion Criteria: For DMD patients: 1. Parent/guardian or participant is able to give informed consent and/or assent as required by local regulations, and all are willing and able to comply with the protocol. 2. Participant is assigned male sex at birth and is age 4 to \<13 years at time of consent. 3. Participant has a confirmed diagnosis of DMD based on genetic testing and/or clinical records consistent with the diagnosis. 4. Participant has been on a stable glucocorticoid dose for 3 months prior to participation. 5. Participant is ambulatory as defined by the ability to walk down a hallway at home without assistance or support. For healthy age-matched controls: 1. Parent/guardian or participant is able to give informed consent and/or assent as required by local regulations, and all are willing and able to comply with the protocol. 2. Participant is assigned male sex at birth and age 4 to \<13 years at time of consent. Exclusion Criteria: For DMD Patients: 1. Participant is/was enrolled in any interventional study for DMD in the past 3 months or has ever been enrolled in a gene therapy study. 2. Participant is on any approved therapy for DMD except for glucocorticoids. 3. Participant is currently or was previously treated with exon-skipping antisense oligonucleotides such as eteplirsen, golodirsen, casimersen, and viltolarsen. 4. Participant has any prior or ongoing medical condition, medical history, or physical finding that could affect the participant's ability to perform the study assessments. 5. Participant has had major surgery within 3 months prior to recruitment or planned orthopedic surgery for any time during this study which would interfere with the ability to perform assessments. 6. Participant has a history of allergic response to silicones or adhesives. 7. Participant has an active implanted device (e.g., pacemaker). Implanted devices relying on an electrical power source to function are considered active devices. For healthy age-matched controls: 1. Participant has a known musculoskeletal disease or had a musculoskeletal injury in the past 3 months. 2. Participant has other illness that precludes functional testing. 3. Participant is enrolled in any interventional study. 4. Participant has or has had any prior or ongoing medical condition, medical history, or physical finding that could affect the participant's ability to perform the study assessments. 5. Participant has had major surgery within 3 months prior to recruitment or planned orthopedic surgery for any time during this study which would interfere with the ability to perform study assessments. 6. Participant has a history of allergic response to silicones or adhesives. 7. Participant has an active implanted device (e.g., pacemaker). Implanted devices relying on an electrical power source to function are considered active devices.MALE2024-10-18T00:00:002022-10-262022-12-122023-08-092022-12-202023-08-142022-10-132023-04-042023-04-04falseFalseFalseThis study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.Duchenne Muscular Dystrophy17Wearable sensor device complianceThe wearable sensor device is composed of three small sticker-based sensors that are worn on the chest, thigh and ankle to record activity. Participants will wear the sensors during specified periods over the study duration and compliance will be assessed based on recorded activity.30 daysAccuracy of functional evaluation using the Duchenne Video Assessment (DVA) tool in an at-home settingThe DVA is a digital tool designed to remotely evaluate functional capacity in a natural environment. Participants will complete a set of movement tasks at specified timepoints during the study that will be captured on video and scored by remote evaluators. DVA scoring will be compared with anticipated levels of functional capacity to assess accuracy.30 daysPreference for use of the wearable sensor device and DVA tool as assessed by interviewParticipants will be asked to complete an exit interview at the conclusion of the study to assess user preference.Day 24-30True412FalseFalseFalseFalse NCT01451281110261National Institutes of Health Clinical Center (CC)NIHStudying Skeletal Muscle, Heart, and Diaphragm Imaging in Boys With Duchenne Muscular Dystrophy2019-05-20COMPLETEDBackground: - Duchenne muscular dystrophy (DMD) is a disease in which the muscles are unable to make the protein dystrophin. Without this protein, the muscles become gradually weaker. A new medicine called GSK2402968 is being tested to see if it can help prevent or slow down this loss of muscle strength. In this study, boys with DMD and healthy volunteers will have different types of imaging studies to see which ones provide the best images of the muscles. This information will help researchers use these imaging techniques to test the safety and effectiveness of GSK2402968 and other agents. Objectives: - To test magnetic resonance imaging and ultrasound techniques that can detect changes in muscles of boys with DMD. Eligibility: * Boys who have DMD and are in the GSK2402968 drug test study. * Healthy boys of the same age as the above study participants. Design: * Participants will be screened with a medical history and physical exam. * Healthy volunteers will have one 2-hour visit with three tests. Magnetic resonance imaging (MRI) scans of the skeletal muscles and heart and diaphragm muscles will be carried out. Muscle ultrasound imaging of leg and arm muscles will also be done. Participants should not perform heavy physical activity like school sports or long walks during the week before the visit. * Participants in the GSK2402968 study will have the same series of tests as the healthy volunteers. The tests will be given during the study screening phase. They will be repeated after 3 months and 6 months of receiving the study agent (GSK2402968 or placebo) and at 6 months after stopping the GSK study.OBSERVATIONAL* INCLUSION CRITERIA: DMD Subjects * Eligible for the parent study * Willing and able to comply with all protocol requirements and procedures, including MRI without sedation * Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian Healthy Volunteers * Must be unaffected by a neuromuscular condition * Willing and able to comply with all protocol requirements and procedures, including MRI without sedation. * Able to give informed assent and parent(s)/legal guardian to give informed consent in writing signed by the subject and/or parent(s)/legal guardian. EXCLUSION CRITERIA: DMD Subjects and Healthy Volunteers * Having metal objects in his body that are not MRI-safe. These include the following objects: 1) pacemakers or other implanted electrical devices; 2) brain stimulators; 3) some types of dental implants; 4) aneurysm clips (metal clips on the wall of a large artery); 5) metallic prostheses (including metal pins and rods, heart valves, and cochlear implants; 6) implanted delivery pump; 7) permanent eye liner; or 8) shrapnel fragments. * Having a fear of closed spacesMALE2024-10-18T00:00:002011-10-082011-10-082019-05-212011-10-132019-05-222011-09-152019-05-20Background: - Duchenne muscular dystrophy (DMD) is a disease in which the muscles are unable to make the protein dystrophin. Without this protein, the muscles become gradually weaker. A new medicine called GSK2402968 is being tested to see if it can help prevent or slow down this loss of muscle strength. In this study, boys with DMD and healthy volunteers will have different types of imaging studies to see which ones provide the best images of the muscles. This information will help researchers use these imaging techniques to test the safety and effectiveness of GSK2402968 and other agents. Objectives: - To test magnetic resonance imaging and ultrasound techniques that can detect changes in muscles of boys with DMD. Eligibility: * Boys who have DMD and are in the GSK2402968 drug test study. * Healthy boys of the same age as the above study participants. Design: * Participants will be screened with a medical history and physical exam. * Healthy volunteers will have one 2-hour visit with three tests. Magnetic resonance imaging (MRI) scans of the skeletal muscles and heart and diaphragm muscles will be carried out. Muscle ultrasound imaging of leg and arm muscles will also be done. Participants should not perform heavy physical activity like school sports or long walks during the week before the visit. * Participants in the GSK2402968 study will have the same series of tests as the healthy volunteers. The tests will be given during the study screening phase. They will be repeated after 3 months and 6 months of receiving the study agent (GSK2402968 or placebo) and at 6 months after stopping the GSK study.Muscular Dystrophy;Muscular DiseaseFalseFalseTrueFalse NCT066439232024232Lokman Hekim ÜniversitesiOTHER_GOVEffects of Lumbopelvic Stabilization-based Physiotherapy and Rehabilitation Training in Duchenne Muscular Dystrophy2024-10NOT_YET_RECRUITINGThis study aims to examine the effectiveness of supervised lumbopelvic stabilization in relation to factors associated with lower urinary tract symptoms in children diagnosed with Duchenne Muscular Dystrophy (DMD) who have lower urinary tract dysfunction. Children aged between 8 and 12 years, at stages 1-4 according to the Vignos scale, and who have a score of 8.5 or higher on the Dysfunctional Voiding Symptom Score (DVSS), will be included in the study. Demographic information will be collected through a general assessment form, while lower urinary tract symptoms will be assessed using the DVSS, a researcher-developed evaluation form, and a three-day bladder diary. Bowel symptoms will be evaluated using the Rome IV criteria and a seven-day bowel diary. Physical performance will be assessed via the Timed Up and Go Test and Gower's Test, muscle strength using the microFET2 hand dynamometer, lumbar lordosis angle with a Bubble inclinometer, participation in daily living activities via the Barthel Index, and perceived well-being of both the child and the parent will be assessed using the Faces Rating Scale. Participants will be randomly assigned to two groups (Treatment and Active Control) using a block randomization method. In the Active Control group, children will receive only urotherapy education. In the Treatment group, children will receive supervised, online, lumbopelvic exercise-based physiotherapy and rehabilitation sessions, in addition to urotherapy, conducted by a physiotherapist. The sessions will last eight weeks, with a total of 24 sessions. At the end of the eight-week period, both groups will be re-evaluated using the same assessment methods. Intra-group and inter-group comparisons will be completed using appropriate analytical methods.INTERVENTIONALInclusion Criteria: * Having been diagnosed with DMD by a specialist physician, * Having received a score of 8.5 or higher on the Voiding Disorders Symptom Score (VMSS), * Being between the ages of 8-12, * Continuing ambulation (Vignos Scale Stage 1-4), * Volunteering to participate in the study by parents and reading and signing the informed consent form. Exclusion Criteria: * Having another neuromuscular disease diagnosed other than DMD and/or accompanying DMD, * Having family and/or child having cooperation problems in completing the evaluations for any reason, * Lack of internet infrastructure or technical infrastructure that may cause difficulty in continuing distance education/follow-up, * Having difficulty in understanding and speaking the Turkish language.MALE2024-10-18T00:00:002024-10-072024-10-152024-10-152024-10-162024-10-162024-12-012025-12-012026-12-01falseFalseFalseThis study aims to examine the effectiveness of supervised lumbopelvic stabilization in relation to factors associated with lower urinary tract symptoms in children diagnosed with Duchenne Muscular Dystrophy (DMD) who have lower urinary tract dysfunction. Children aged between 8 and 12 years, at stages 1-4 according to the Vignos scale, and who have a score of 8.5 or higher on the Dysfunctional Voiding Symptom Score (DVSS), will be included in the study. Demographic information will be collected through a general assessment form, while lower urinary tract symptoms will be assessed using the DVSS, a researcher-developed evaluation form, and a three-day bladder diary. Bowel symptoms will be evaluated using the Rome IV criteria and a seven-day bowel diary. Physical performance will be assessed via the Timed Up and Go Test and Gower's Test, muscle strength using the microFET2 hand dynamometer, lumbar lordosis angle with a Bubble inclinometer, participation in daily living activities via the Barthel Index, and perceived well-being of both the child and the parent will be assessed using the Faces Rating Scale. Participants will be randomly assigned to two groups (Treatment and Active Control) using a block randomization method. In the Active Control group, children will receive only urotherapy education. In the Treatment group, children will receive supervised, online, lumbopelvic exercise-based physiotherapy and rehabilitation sessions, in addition to urotherapy, conducted by a physiotherapist. The sessions will last eight weeks, with a total of 24 sessions. At the end of the eight-week period, both groups will be re-evaluated using the same assessment methods. Intra-group and inter-group comparisons will be completed using appropriate analytical methods.Duchenne Muscular Dystrophy (DMD);Lower Urinary Track SymptomsNA34Lower urinary tract symptoms assessmentLower urinary tract symptoms will be assessed with the UIRS questionnaire. UIRS questions the frequency of lower urinary tract symptoms in the last month and measures the severity of lower urinary tract dysfunction. Akbal et al. stated that a score of 8.5 is the optimum threshold value and that this value can be used to determine whether there are functional voiding symptoms. This cut-off value will be used as the inclusion criterion in our study. In addition to the UIRS, a three-day bladder diary (voiding diary, frequency-volume chart) will be used to assess lower urinary tract symptoms. This diary allows recording bladder functions and facilitates follow-up by documenting them. In addition, it is a practical, repeatable, valid and reliable assessment method. Before the diaries are given, individuals will definitely be given training on how to fill out the diary and what to look for when filling out the diary.8 weeksBowel symptom assessmentDue to the close relationship between bladder and bowel function, both systems should be screened in routine evaluations. In our study, bowel symptoms will be evaluated with the Rome IV criteria and a 7-day bowel diary. A form including the Bristol Stool Scale is applied in the bowel diary evaluation. With this diary; information can be obtained on defecation frequency, defecation times, stool form, presence of pain during defecation, presence of fecal incontinence, times and severity of fecal incontinence. Rome IV criteria are listed below: 2 or fewer defecations per week, maneuvering to postpone defecation, feeling of a large stool mass in the rectum, painful and difficult bowel movements, stool thick enough to block the toilet hole, and a history of fecal incontinence at least once a week. The presence of at least 2 of these criteria and their persistence for at least 3 months is considered constipation.8 weeksPhysical performance assessmentPhysical performance will be assessed with the Timed Up and Go Test. The Timed Up and Go Test provides information about the mobility and balance of individuals. It is a valid, practical and objective assessment method for the pediatric population. It is a functional test and evaluates the individual's ability to stand up from a chair independently, walk a distance of three meters, turn activities and sit down on a chair independently. The test will begin after the child is explained in detail and demonstrated by the physiotherapist. The physiotherapist will measure the test with a stopwatch and record it in seconds.8 weeksMuscle strength assessmentIn our study, the proximal muscle groups in and around the trunk will be measured. These muscles include trunk flexors, trunk extensors, hip flexors and quadriceps femoris muscles. The Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device will be used in muscle strength measurement. The Hoggan hand-held dynamometer has been shown to be a valid and reliable technique for muscle strength assessment in muscle diseases. Two types of tests are used in the use of the Hoggan microFET2 device, which is a hand-held dynamometer type: "make" and "break". For the make test, the researcher applies resistance in a fixed position and the subject is asked to show maximum effort. For the break test, the researcher tries to apply more resistance than the maximum resistance shown by the subject, causing movement in the opposite direction of the joint. In our study, the "make" test will be used in order not to increase fatigue in children with DMD.8 weeksLumbar lordosis angle assessmentLumbar lordosis assessment will be performed while the person is standing without shoes, knees extended and feet hip-width apart. The person will be asked to fix their gaze on a single point at eye level and to keep their upper extremity freely near their hips. The person will be asked to stand comfortably while standing and if they voluntarily straighten up, the measurement will be repeated. In the lumbar lordosis measurement, 2 reference points will be marked and the Bubble inclinometer will be placed at these reference points and the measurement will be made from the sagittal plane. The first reference point is the lumbosacral segment and is S1-S2. The second reference point is the thoracolumbar segment and is at the T12-L1 level. The sum of the values measured from these two points gives the lumbar lordosis angle. The reference points will be marked with a pen that does not harm the skin.8 weeksEvaluation of participation in daily living activitiesAccording to the recommendations of the International Classification of Functioning, Disability and Health (ICF), which is considered important by the World Health Organization, humans are biopsychosocial beings and should be evaluated in terms of psychosocial and participation as well as physical symptoms. Therefore, our study aimed to evaluate the participation and independence of the participants.8 weeksPerceived well-being assessmentPerceived well-being is different from physical parameters and is measured subjectively. The Facial Expression Scale will be used for the assessment of perceived well-being in the study. In addition, the perceived well-being assessment will be applied to both the parent and the child. The Facial Expression Scale is recommended for use in cases where the use of the visual analog scale and/or numerical scale is difficult and in children.8 weeksPhysical performance assessmentPhysical performance will be assessed with the Gowers Test. The Gowers is a timed performance test and is frequently used in individuals with DMD. For this test, the child will lie on his/her back on a mat spread on the floor. Then, the child will be asked to stand up as quickly as possible and come to an upright position. During the test, the physiotherapist will time the time it takes to stand up in.8 weeksFalse812FalseFalseFalseFalse NCT059380231102-DMD-Pre-CT03Percheron TherapeuticsINDUSTRYA Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy2024-05ACTIVE_NOT_RECRUITINGThis Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to \<18 years old. The study includes a randomised, double-blind, placebo-controlled treatment period (Part A), followed by an open labelled treatment period (Part B).INTERVENTIONALKey Inclusion Criteria: * Has a clinical diagnosis of DMD confirmed by validated genetic testing * Is considered to be non-ambulatory, defined as unable to walk 10 meters without assistance or help at Screening. * Male aged 10 to less than 18 years, at the time of Screening. * Body weight of at least 25 kg at Screening. * If receiving corticosteroid therapy, therapy was initiated at least six months prior to the baseline visit and a stable daily dose for at least 3 months prior to baseline * Participant has a Performance of Upper Limb Module for DMD 2.0 (PUL 2.0) Entry Item A score ≥2. * Able to perform spirometry and has sufficient Respiratory function defined as reproducible percent predicted FVC ≥50%. * Has adequate cardiac function defined as left ventricular ejection fraction (LVEF) ≥45% by echocardiogram and if receiving cardiac medication, must be currently on a stable regimen and doses of cardiac therapy (at least 3 months prior to baseline Day 1) * Participant and their parent/guardian/carer are willing and able to comply with scheduled visits, study medication administration and study procedures. Key Exclusion Criteria: * Participation in another clinical trial (non-interventional) or administration of any investigational product or experimental product within 12 weeks or 5 half-lives (whichever is longer) preceding Day 1. * Exposure to more than 3 investigational products within the 12 months prior to Day 1. * History of clinically significant bleeding or coagulation abnormalities or clinically significant abnormal coagulation parameters. * Currently receiving antiplatelet or anticoagulant therapy or has taken medication with an antiplatelet or anticoagulant effect within 4 weeks prior Day 1 * Any evidence of clinically significant structural or functional heart abnormality (cardiomyopathy that is managed by ACEi or beta blockers is acceptable provided the LVEF inclusion criterion is met). * Known history of or a positive test for hepatitis B surface antigen (HBsAg), hepatitis C (HCV) antibodies, human immunodeficiency virus (HIV) antibodies at Screening. * Evidence of renal impairment and/or cystatin C \>1.4 mg/L. * Received a live vaccine (including intranasal influenza vaccine) within 4 weeks prior to Day 1 or planned live vaccination during the study period. * Asthma (if requiring regular medication), bronchitis/chronic obstructive pulmonary disease (COPD), bronchiectasis, emphysema, pneumonia or the presence of any non-DMD respiratory illness that affects PEF and FVC or other respiratory measures. * Requires day-time assisted mechanical or non-invasive ventilation (NIV) (night time NIV is permitted). * Chronic use (daily intake \>14 days), within one month of Day 1, of beta-2 agonists or any use of other bronchodilating medication (e.g., inhaled steroids, sympathomimetics, anticholinergics). * Used carnitine, creatine, glutamine, oxatomide, idebenone or other forms of coenzyme Q10 or vitamin E or any other nutritional or antioxidant supplements or herbal medicines or anabolic steroids other than standard corticosteroids or puberty testosterone supplementation within 4 weeks of Day 1. * Has an increased risk for opportunistic infections or systemic medical conditions resulting in significantly compromised immune system functionMALE2024-10-18T00:00:002023-06-052023-06-292024-05-282023-07-102024-05-302023-05-182024-11-132025-03-05trueFalseFalseThis Phase IIb study is a two part, multicenter study to evaluate the efficacy, safety, pharmacokinetics and pharmacodynamics of ATL1102 in non-ambulant boys with Duchenne Muscular Dystrophy aged 10 to \<18 years old. The study includes a randomised, double-blind, placebo-controlled treatment period (Part A), followed by an open labelled treatment period (Part B).Duchenne Muscular DystrophyPHASE248Change in the Performance of Upper Limb (PUL) 2.0 score from baseline to Week 25 (blinded treatment period).The PUL is an assessment used to evaluate the upper limb strength for individuals with DMD where a higher score indicates a better outcome with a minimum of 0 and a maximum score of 4225 weeksChange in the Performance of Upper Limb (PUL) 2.0 score from Week 25 to Week 49 (open label treatment period).The PUL is an assessment used to evaluate the upper limb strength for individuals with DMD where a higher score indicates a better outcome with a minimum of 0 and a maximum score of 4249 weeksChange in the Performance of Upper Limb (PUL) 2.0 score from baseline to Week 49 (combined treatment period).The PUL is an assessment used to evaluate the upper limb strength for individuals with DMD where a higher score indicates a better outcome with a minimum of 0 and a maximum score of 4249 weeksSafety measured by the incidence and frequency of adverse events, serious adverse events and suspected unexpected adverse events from baseline to Week 65An Adverse Event is any untoward medical occurrence in a participant and does not necessarily have to have a causal relationship with the intervention.65 weeksChange in the grip strength of the hand from baseline to Week 25 using a handheld dynamometer tool (MyoGrip) (blinded treatment period).The handheld dynamometer tool (MyoGrip) use strain gauge technology to measure the hand strength in Kilograms exerted by the participants with higher recordings indicating greater hand strength.25 weeksChange in the pinch strength of the fingers from baseline to Week 25 using handheld dynamometer tool (MyoPinch) (blinded treatment period).The handheld dynamometer tool (MyoPinch) use strain gauge technology to measure the pinch strength of the fingers in Kilograms exerted by the participants with higher recordings indicating greater hand strength.25 weeksChange in the respiratory function assessed by Forced Vital Capacity (FVC) from baseline to Week 25 (blinded treatment period).The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests25 weeksChange in the respiratory function assessed by peak expiratory flow (PEF) from baseline to Week 25 (blinded treatment period).The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests25 weeksChange in the Paediatric Quality of Life (PedsQL™) questionnaire Duchenne Muscular Dystrophy (DMD) Module from baseline to Week 25 (blinded treatment period).Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL™) Duchenne Muscular Dystrophy (DMD) Module for participants and parents at multiple timepoints. A higher score indicates a better health related quality of life with a minimum of 0 and a maximum score of 100.25 weeksSafety measured by the incidence and frequency of adverse events, serious adverse events and suspected unexpected adverse events from baseline to Week 25 (blinded treatment period).An Adverse Event is any untoward medical occurrence in a participant and does not necessarily have to have a causal relationship with the intervention.25 weeksMaximum and minimum plasma concentration (Cmax and Cmin) for ATL1102 over multiple timepointsPharmacokinetic evaluation to evaluate dose response65 weeksArea under the plasma concentration time curve (AUC) for ATL1102 over multiple timepointsPharmacokinetic evaluation to evaluate dose concentration over time65 weeksTime to Cmax and Cmin for ATL1102 over multiple timepointsPharmacokinetic evaluation to evaluate concentration of ATL110265 weeksThe terminal half life for ATL1102Pharmacokinetic evaluation to evaluate the time for the ATL1102 concentration to reduce by half65 weeksChange in the grip strength of the hand from Week 25 to Week 49 using a handheld dynamometer tool (MyoGrip) (open label treatment period).The handheld dynamometer tool (MyoGrip) use strain gauge technology to measure the hand strength in Kilograms exerted by the participants with higher recordings indicating greater hand strength.49 weeksChange in the pinch strength of the fingers from Week 25 to Week 49 using handheld dynamometer tool (MyoPinch) (open label treatment period).The handheld dynamometer tool (MyoPinch) use strain gauge technology to measure the pinch strength of the fingers in Kilograms exerted by the participants with higher recordings indicating greater hand strength.49 weeksChange in the respiratory function assessed by Forced Vital Capacity (FVC) from Week 25 to Week 49 (open label treatment period).The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests49 weeksChange in the respiratory function assessed by peak expiratory flow (PEF) from Week 25 to Week 49 (open label treatment period).The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests49 weeksChange in the Paediatric Quality of Life (PedsQL) questionnaire Duchenne Muscular Dystrophy (DMD) Module from Week 25 to Week 49 (open label treatment period).Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL™) Duchenne Muscular Dystrophy (DMD) Module for participants and parents at multiple timepoints. A higher score indicates a better health related quality of life with a minimum of 0 and a maximum score of 100.49 weeksChange in the grip strength of the hand from baseline to Week 49 using a handheld dynamometer tool (MyoGrip) (combined treatment period).The handheld dynamometer tool (MyoGrip) use strain gauge technology to measure the hand strength in Kilograms exerted by the participants with higher recordings indicating greater hand strength.49 weeksChange in the pinch strength of the fingers from Baseline to Week 49 using handheld dynamometer tool (MyoPinch) (combined treatment period).The handheld dynamometer tool (MyoPinch) use strain gauge technology to measure the pinch strength of the fingers in Kilograms exerted by the participants with higher recordings indicating greater hand strength.49 weeksChange in the respiratory function assessed by Forced Vital Capacity (FVC) from Baseline to Week 49 (combined treatment period).The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests49 weeksChange in the respiratory function assessed by peak expiratory flow (PEF) from baseline to Week 49 (combined treatment period).The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests49 weeksChange in the Paediatric Quality of Life (PedsQL) questionnaire Duchenne Muscular Dystrophy (DMD) Module from Baseline to Week 49 (combined treatment period).Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL™) Duchenne Muscular Dystrophy (DMD) Module for participants and parents at multiple timepoints. A higher score indicates a better health related quality of life with a minimum of 0 and a maximum score of 100.49 weeksFalse1017FalseFalseFalseTrue NCT05881408SRP-9001-303Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants With Duchenne Muscular Dystrophy (DMD)2024-09RECRUITINGThe study will evaluate the safety and efficacy of delandistrogene moxeparvovec gene transfer therapy in non-ambulatory and ambulatory males with DMD. This is a randomized, double-blind, placebo-controlled 2-part study. Participants will be in the study for approximately 128 weeks. All participants will have the opportunity to receive intravenous (IV) delandistrogene moxeparvovec in either Part 1 or Part 2.INTERVENTIONALInclusion Criteria: * Definitive diagnosis of DMD based on documented clinical findings and prior genetic testing. * Cohort 1 only: Non-ambulatory per protocol specified criteria. * Cohort 2 only: Ambulatory per protocol specified criteria and ≥8 to \<18 years of age at the time of Screening. * Ability to cooperate with motor assessment testing. * Stable daily dose of oral corticosteroids for at least 12 weeks prior to Screening, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight). * Recombinant Adeno-Associated Virus Serotype rh74 (rAAVrh74) antibody titers are not elevated as per protocol-specified requirements. * A pathogenic frameshift mutation or premature stop codon contained between exons 18 and 79 (inclusive). Exclusion Criteria: * Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression within protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. * Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer. Other inclusion or exclusion criteria could apply.MALE2024-10-18T00:00:002023-05-192023-05-192024-09-162023-05-312024-09-192023-05-312027-05-312028-06-30trueTrueFalseThe study will evaluate the safety and efficacy of delandistrogene moxeparvovec gene transfer therapy in non-ambulatory and ambulatory males with DMD. This is a randomized, double-blind, placebo-controlled 2-part study. Participants will be in the study for approximately 128 weeks. All participants will have the opportunity to receive intravenous (IV) delandistrogene moxeparvovec in either Part 1 or Part 2.Duchenne Muscular DystrophyPHASE3148Part 1: Change From Baseline in the Total Score of Performance of Upper Limb (PUL) (Version 2.0) at Week 72Baseline, Week 72Part 1: Change From Baseline in Percent Predicted Forced Vital Capacity (FVC) at Week 72Baseline, Week 72Part 1: Change From Baseline in Percent Predicted Peak Expiratory Flow (PEF) at Week 72Baseline, Week 72Part 1: Quantity of Delandistrogene Moxeparvovec Dystrophin Expression at Week 12 as Measured by Western BlotWeek 12Part 1: Change From Baseline in Patient-Reported Outcomes Measurement Information (PROMIS) Score in Upper Extremity Function to Week 72Baseline, Week 72Number of Participants with a Treatment Emergent Adverse Event (TEAE), Adverse Event of Special Interest (AESI), and Serious Adverse Event (SAE)Baseline up to Week 124Part 1 (For Cohort 2 Only): Change From Baseline in the North Star Ambulatory Assessment (NSAA) Total Score at Week 72Baseline, Week 72Part 1: Change From Baseline in Global Circumferential Strain as Measured by Cardiac MRI at Week 72Baseline, Week 72FalseTrueFalseFalseTrue NCT02421523IRB201400874-NUniversity of FloridaOTHERStrength Training in Duchenne Muscular Dystrophy2019-03COMPLETEDDuchenne muscular dystrophy (DMD) is a debilitating neuromuscular disease that causes muscle breakdown, weakness, and eventual death. Over the last 40 years parents have received little guidance on the potential of exercise as a therapeutic strategy to maintain muscle function. It is well known that high intensity exercise and eccentric contractions can result in muscle damage in dystrophic muscle, yet the absence of muscle loading will conversely result in muscle wasting. Recent research in rodent models and milder forms of muscular dystrophy supports earlier studies that resistance exercise may have beneficial effects for maintenance of muscle mass in dystrophic muscle. However, careful and systematic investigation into the safety and feasibility of resistance exercise is needed to consider its implementation in boys with DMD. The goal of this project is to assess the safety and feasibility of a home based mild to moderate-intensity strengthening exercise program in boys with Duchenne muscular dystrophy (DMD). Evidence from milder forms of muscular dystrophy and mouse models of DMD suggests that strengthening exercise may be beneficial for these children, but this area has not been adequately explored using human subjects. The results of this study should provide information to assist in the development of scientifically based recommendations concerning optimal exercise parameters for patients with DMD.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed by 1. clinical history with features before the age of five 2. physical examination 3. elevated serum creatine kinase level 4. absence of dystrophin expression, as determined by immunostain or Western blot (\<2%) and/or DNA confirmation of dystrophin mutation. * Age 7 to 10.5 years: a lower age limit of 7 years was selected, since in our experience children younger than 7 years are likely unable to cooperate and comply with all of the exercise measures as needed. An upper age limit of 10.5 years has been set as boys with DMD tend to reach a rapid progression into a late ambulatory phase soon after this age. * Ambulatory at the time of the first visit, defined as the ability to walk for at least 100 m without an external assistive device and able to climb four stairs. * Currently using corticosteroids (prednisone or deflazacort) as prescribed by a physician. Exclusion Criteria: * Contraindication to an MR examination (e.g. aneurysm clip, severe claustrophobia, magnetic implants) * Presence of a condition in control subjects or a secondary condition in boys with DMD that impacts muscle function or muscle metabolism (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease) * Secondary condition leading to developmental delay or impaired motor control (e.g. cerebral palsy) * Secondary condition that impacts muscle function or muscle metabolism (e.g. myasthenia gravis, endocrine disorder, mitochondrial disease) * Unstable medical condition (e.g. uncontrolled seizure disorder) * Behavioral problems causing an inability to cooperate during testingMALE2024-10-18T00:00:002015-04-152015-04-172019-03-052015-04-202019-03-062015-05-302018-02-152018-10-08trueFalseFalseDuchenne muscular dystrophy (DMD) is a debilitating neuromuscular disease that causes muscle breakdown, weakness, and eventual death. Over the last 40 years parents have received little guidance on the potential of exercise as a therapeutic strategy to maintain muscle function. It is well known that high intensity exercise and eccentric contractions can result in muscle damage in dystrophic muscle, yet the absence of muscle loading will conversely result in muscle wasting. Recent research in rodent models and milder forms of muscular dystrophy supports earlier studies that resistance exercise may have beneficial effects for maintenance of muscle mass in dystrophic muscle. However, careful and systematic investigation into the safety and feasibility of resistance exercise is needed to consider its implementation in boys with DMD. The goal of this project is to assess the safety and feasibility of a home based mild to moderate-intensity strengthening exercise program in boys with Duchenne muscular dystrophy (DMD). Evidence from milder forms of muscular dystrophy and mouse models of DMD suggests that strengthening exercise may be beneficial for these children, but this area has not been adequately explored using human subjects. The results of this study should provide information to assist in the development of scientifically based recommendations concerning optimal exercise parameters for patients with DMD.Duchenne Muscular DystrophyNA18Change from baseline in T2 weighted MRI of skeletal muscle in leg for Aim 2In order to examine the distribution of affected tissue (versus unaffected tissue) across the lower extremity muscles, multi-slice spin-echo images will be acquired from the lower leg and thigh muscles. A pixel-by-pixel T2 map will be created for each slice (minimal 8 slices) by fitting the decay in image signal intensity (SI) to a single exponential (SI=Aexp-TE/T2+B; A=proton density) with respect to echo time (TE). The total affected tissue volume (% of pixels with T2 \>2SD above control) will be recorded for each of the lower extremity muscles. Subsequently, the same T2 weighted spin-echo sequence will be implemented with fat suppression (FS) and T2 FS maps are created. Based on the difference in proton density between the two spin-echo sequences the T2 FS pixels primarily composed of lipid will be eliminated, and the muscle lesion volume (% of unsuppressed pixels with elevated T2 values) will be recorded for each of the lower extremity muscles.Change in baseline relative to 1 week, 6 weeks, 12 weeksChange in base line in T2 weighted MRI of skeletal muscle in leg for Aim 1Magnetic resonance imaging will be performed with a Philips 3.0T whole body scanner. Subjects will be positioned supine in the magnet. Multi-slice (6 axial slices) multi-echo (16 echoes with equal spacing from 20-320 ms) T2-weighted imaging will be performed on the upper leg (thigh). T2 maps of the thigh muscles will be created and mean T2 values of the knee extensor muscle group and flexor muscle group will be measured as well as the proportion of pixels defined as elevated (\>2SD).Change in baseline relative to 48 hours after exerciseChange from baseline in Spectroscopic Relaxometry for Aim 2A spectroscopic relaxometry sequence may be implemented to quantify changes in muscle 1H2O T2. Sixteen echoes may be acquired in the musculature of the lower leg under fully relaxed conditions (TR=9 s). This sequence will allow for both the determination of global T2 as well as multiexponential fitting of the T2 decay using non-negative least squares analysis.Change in baseline relative to 1 week, 6 weeks, 12 weeksChange from baseline in Spectroscopic Relaxometry for Aim 1A spectroscopic relaxometry sequence may be implemented to quantify changes in muscle 1H2O T2. Sixteen echoes may be acquired in the musculature of the lower leg under fully relaxed conditions (TR=9 s). This sequence will allow for both the determination of global T2 as well as multiexponential fitting of the T2 decay using non-negative least squares analysis.Change in baseline relative to 48 hours after exerciseChange from baseline in Creatine Kinase (CK) Levels for Aim 2Blood collection for the baseline, 6 wk, and 12 wks time points will take place at the Clinical Research Center (CRC) at the University of Florida (UF). Blood samples needed for the 3 and 9wk safety assessments may be done within the subjects' local community as we have done previously (Smith 2013). Specifically, we may have the subjects go to a local laboratory for these blood draws to be done by a nurse or physician. Approximately 10 ml of blood will be collected from the antecubital vein while the subject is seated. The analysis for CK levels will take place at Shands Medical Laboratories, and their staff will perform analyses as per their standardized procedures. Following analysis, Shands Medical Laboratories will keep the labeled blood refrigerated at \~5 degrees C for one week, after which time the blood will be incinerated.Change in baseline relative to 1 week, 3 weeks, 6 weeks, 9 weeks, 12 weeksChange from baseline in Creatine Kinase (CK) Levels for Aim 1Blood collection for the baseline and 48 hours after exercise will take place at the Clinical Research Center (CRC) at UF. Approximately 10 ml of blood will be collected from the antecubital vein while the subject is seated. The analysis for CK levels will take place at Shands Medical Laboratories, and their staff will perform analyses as per their standardized procedures. Following analysis, Shands Medical Laboratories will keep the labeled blood refrigerated at \~5 degrees C for one week, after which time the blood will be incinerated.Change in baseline relative to 48 hours after exerciseChange from baseline in Pain for Aim 2Subjects will be asked to rate any pain they are experiencing at the time of assessment using a Wong-Baker FACES Pain Rating Scale with faces and corresponding numbers ranging from 0 (No Hurt) to 10 (Hurts Worst). Subjects will be asked to rate any pain by selecting one of the faces with its corresponding numerical rating and pain description.Change in baseline relative to 1 week, 3 weeks, 6 weeks, 9 weeks, 12 weeksChange from baseline in Pain for Aim 1Subjects will be asked to rate any pain they are experiencing at the time of assessment using a Wong-Baker FACES Pain Rating Scale with faces and corresponding numbers ranging from 0 (No Hurt) to 10 (Hurts Worst). Subjects will be asked to rate any pain by selecting one of the faces with its corresponding numerical rating and pain description.Change in baseline relative to 48 hours after exerciseFalse710TrueFalseFalseFalse NCT02056808SMT C11002Summit TherapeuticsINDUSTRYA Phase 1b Study of SMT C1100 in Subjects With Duchenne Muscular Dystrophy (DMD)2014-08COMPLETEDThe purpose of this study is to determine whether increasing doses of SMT C1100 are safe, well tolerated and achieve appropriate blood levels in patients with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Patients will be males of any ethnic origin with a genetic diagnosis of DMD. * Children between 5 and 11 years of age. * A parent/legal guardian must date and sign a written consent on behalf of the patient, according to International Conference on Harmonisation (ICH) and local regulations. This person must understand the contents of the consent, requirements of the study and have had an opportunity to review questions with a medically trained member of the site study team. * The patient is willing to give verbal or written age appropriate assent to participate. * For safety reasons, the patient's parent/legal guardian must have a good understanding of the English language, as this is the only language the consent/assent forms are written in, and understand the requirements for reporting of any adverse event to the Investigator. Exclusion Criteria: * Enrollment or participation in any therapeutic clinical trial within the prior 3 months or 5 times the half-life (whichever is longer). * Initiation or change (other than dose modifications for body weight) of systemic corticosteroid therapy within 2 months prior to the start of dose administration or discontinuation of corticosteroids within 30 days prior to the start of dose administration. * Known hypersensitivity to the excipients of the study drug or a previous history of drug allergy. * Use of the following therapies is prohibited during the study and for at least 5 half-lives prior to the start of dose administration: Inducers of cytochrome P450 CYP1A2 (eg, carbamazepine, phenytoin, primidone, rifampin, omeprazole, and barbiturates), and moderate and strong inhibitors of CYP1A2 (e.g., fluvoxamine, ciprofloxacin, enoxacin, mexiletine; propafenone, zileuton). Substrates of CYP1A2 with narrow therapeutic windows (e.g., tacrine, theophylline, methadone, mexiletine). Nicotine, including exposure to daily passive smoking to minimize cytochrome P450 CYP 1A induction. Chargrilled food, cruciferous vegetables, caffeine, tea, and any xanthine containing foods, and drinks are prohibited from 36 hours prior to check-in until final discharge from study. Herbal supplements and homeopathic preparations (unless approved by medical monitor). * Need for mechanical ventilation. * Non ambulatory. * Any clinically significant acute illness within 4 weeks of the start of dose administration. * Any co-morbidity that, in the opinion of the Investigator, increases the risk of participating in the study. * Symptomatic cardiomyopathy that in the opinion of the Investigator prohibits participation in this study. * Abnormality in the 12-lead ECG that, in the opinion of the Investigator, increases the risk of participating in the study. * Any clinically significant medical condition, other than DMD that in the opinion of the Investigator may increase the risk of participating in the study or interfere with the interpretation of safety or efficacy evaluations (e.g., concomitant illness, psychiatric condition or behavioral disorder). * Exposure to daily passive smoking (including parent/legal guardian, siblings) so as to minimize environmental factors causing cytochrome P450 CYP 1A induction. For information SMT C1100 is metabolized by cytochrome P450 CYP 1A. * Excessive exercise (Investigator opinion).MALE2024-10-18T00:00:002013-11-212014-02-052014-08-262014-02-062014-08-272013-112014-052014-07trueThe purpose of this study is to determine whether increasing doses of SMT C1100 are safe, well tolerated and achieve appropriate blood levels in patients with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE112Safety and tolerabilityTo determine the safety and tolerability of single and multiple oral doses of SMT C1100 in patients with Duchenne Muscular Dystrophy (DMD) by assessing the participants adverse events, ECG results, vital signs and laboratory tests.After 10 days of treatment phasePharmacokinetic parameters at different dose levelsPlasma concentration of SMT C1100 calculated at each time point for each subject (sample size (n), mean, standard deviation (SD), percentage of coefficient of variation (%CV), geometric mean, median, minimum, and maximum for the parent and the major metabolites.After single oral dose and after 10 days of treatment phaseFalse511FalseFalseFalseFalse NCT01168908NA-00036602Hugo W. Moser Research Institute at Kennedy Krieger, Inc.OTHERRevatio for Heart Disease in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy2019-02TERMINATEDThis study, supported by Charley's Fund, Inc., is being done to determine if the drug Revatio®(also known as Sildenafil), as compared to placebo (an inactive substance that looks like the study drug, but contains no medication), improves heart function in people with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DBMD). In people with DBMD, dystrophin is not present or lacking in heart and muscle. This is associated with abnormalities in an enzyme called "neuronal nitric oxide synthase" or nNOS, and leads to decreases in "cyclic GMP," which is necessary for proper function of those muscles. Revatio blocks an enzyme called phosphodiesterase 5 (PDE5), and helps to restore the normal amounts of cyclic GMP. The purpose of this research is to determine if Revatio is safe for people with DBMD and if it can improve heart function. Hypothesis : PDE5 inhibition, with the use of Revatio, will improve cardiac function in patients with DBMD.INTERVENTIONALInclusion Criteria: 1. DBMD as determined by either a skeletal muscle biopsy demonstrating absence or lack of dystrophin, and/or genetic testing showing a mutation in the dystrophin gene predictive of DBMD, as well as a consistent physical examination 2. Male gender 3. Age greater than or equal to 18 years 4. Cardiac dysfunction with ejection fraction less than or equal to 50% as determined by echocardiogram, cardiac MRI, or multi-gated acquisition (MUGA) scan 5. On a stable dose of ACE-inhibitor or angiotensin receptor blocker (ARB) for at least 3 months; beta-adrenergic receptor blockers and glucocorticosteroids are not required but if used, a stable dose for at least 3 months is required. 6. Ability of the subject or legal guardian to provide informed consent 7. Ability to adhere with study follow-up 8. Willingness to abstain from food and alcohol for 8 hours prior to FMD Exclusion Criteria: 1. Use of nitrates or alpha-adrenergic receptor blockers 2. Known intolerance or allergy to sildenafil, or a history of any severe allergic or anaphylactic reactions 3. Any medical or psychosocial condition, which, in the view of the study investigator, makes study participation inadvisable 4. Known hereditary retinal disorder such as retinitis pigmentosa 5. History of priapism or conditions that may predispose to priapism such as sickle cell anemia, multiple myeloma, or leukemia 6. Bleeding disorders 7. Active tobacco use 8. Chronic atrial fibrillation or frequent arrhythmia that would result in an irregular pulse 9. Factors that would preclude obtaining an MRI study - (e.g. implantable pacemaker or cardioverter-defibrillator; body habitus cannot fit into scanner) 10. Systolic blood pressure (SBP) less than 85 mmHg at baseline evaluation 11. Chronic kidney disease stages 4 and 5: GFR\< 30 mL/min/1.73 m2 as determined by serum cystatin C level and the equation eGFRcys = 76.7 x (serum cystatin C-1.18) 12. Current use of sildenafil.MALE2024-10-18T00:00:002010-07-222010-07-222019-02-072010-07-232019-02-262010-092014-012014-01trueThis study, supported by Charley's Fund, Inc., is being done to determine if the drug Revatio®(also known as Sildenafil), as compared to placebo (an inactive substance that looks like the study drug, but contains no medication), improves heart function in people with Duchenne Muscular Dystrophy and Becker Muscular Dystrophy (DBMD). In people with DBMD, dystrophin is not present or lacking in heart and muscle. This is associated with abnormalities in an enzyme called "neuronal nitric oxide synthase" or nNOS, and leads to decreases in "cyclic GMP," which is necessary for proper function of those muscles. Revatio blocks an enzyme called phosphodiesterase 5 (PDE5), and helps to restore the normal amounts of cyclic GMP. The purpose of this research is to determine if Revatio is safe for people with DBMD and if it can improve heart function. Hypothesis : PDE5 inhibition, with the use of Revatio, will improve cardiac function in patients with DBMD.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE220Change in Cardiac Left Ventricular End-systolic Volume (LVESV) by Cardiac Magnetic Resonance (CMR) Imaging.To determine whether a 6 month trial of oral sildenafil compared to placebo improves cardiac contractile function in DBMD as determined by a \> 10% decline in end-systolic volume as detected by CMR.6 months compared to baselineChange in Cardiac Systolic and Diastolic Function by CMRCardiac volumes and systolic ejection parameters will be measured.6 months and 12 monthsChange in Cardiac MassLeft ventricular (LV) mass will be measured by CMR .6 months and 12 monthsChange in Forced Vital Capacity (FVC) by Pulmonary Function TestingSkeletal muscle function of the diaphragm will be measured using FVC by pulmonary function testing.6 months and 12 monthsChange in Skeletal Muscle StrengthSkeletal muscle strength will be assessed by pincher and grip dynamometry6 months and 12 monthsEjection FractionLeft ventricular ejection fraction by cardiac MRI was measured6 monthsFalse1850FalseFalseFalseFalse NCT01128855114118GlaxoSmithKlineINDUSTRYA Double-blind, Escalating Dose, Randomized, Placebo-controlled Study Assessing PK, Safety, Tolerability in Non-ambulant DMD Subjects2017-07COMPLETEDThe purpose of this study is investigate the pharmacokinetics, safety and tolerability of single subcutaneous administration of GSK2402968 in non-ambulant boys with Duchenne muscular dystrophyINTERVENTIONALInclusion Criteria: * Duchenne muscular dystrophy resulting from a mutation in the DMD gene, confirmed by a sponsor approved DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by treatment with GSK2402968. * Age 9 years old or greater at Screening; * Male; * Non-ambulant (at least 1 year in a wheelchair) within the last 4 years; * Life expectancy at least three years; * Willingness and ability to comply with all protocol requirements and procedures; * QTc \<450msec (based on single or average QTc value of triplicate ECGs obtained over a brief recording period). Note: QTc may be either QTcB or QTcF, machine read or manual overread; * Subjects must be willing to use adequate contraception (condoms or abstinence), from Screening until at least 5 months after the last dose of study drug; * Informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations). Exclusion Criteria: * Any additional mutation (such as an additional missing exon for DMD) that cannot be treated with GSK2402968; * Current or history of liver or renal disease; * Acute illness within 4 weeks of anticipated administration of study medication, which may interfere with study assessments; * Use of anticoagulants, antithrombotics or antiplatelet agents, previous treatment with investigational drugs, idebenone or other forms of Coenzyme Q10, within 6 months of the first administration of study medication; * Start of glucocorticosteroids within 6 months or non-stable use of glucocorticosteroids within 3 months of the anticipated first administration of study medication; * Positive hepatitis B surface antigen (HbsAg), hepatitis C antibody test (HCV), or human immunodeficiency virus (HIV) test at Screening; * Symptomatic cardiomyopathy; * Use of alcohol from Screening through to the 1 month Follow-up visit ; * Any Child in Care.MALE2024-10-18T00:00:002010-05-202010-05-212017-07-132010-05-242017-07-182010-07-122011-10-252011-10-25trueThe purpose of this study is investigate the pharmacokinetics, safety and tolerability of single subcutaneous administration of GSK2402968 in non-ambulant boys with Duchenne muscular dystrophyMuscular DystrophiesPHASE120Primary Pharmacokinetic Variables:AUC, Cmax,t-max, CL/F35 daysIncidence of Adverse Events35 daysIncidence of Injection Site Reactions35 daysFalse9FalseFalseFalseFalse NCT01066455PITT1109Cooperative International Neuromuscular Research GroupNETWORKCardiac Outcome Measures in Children With Muscular Dystrophy2013-01COMPLETEDThe purpose of the research study is to evaluate different cardiac measures that are obtained by echocardiographic tests in patients with muscular dystrophy.OBSERVATIONALInclusion Criteria: * Participants must be between the ages of 8 and 18 years old * Confirmed diagnosis of muscular dystrophy (DMD, BMD, or LGMD 2C-2F and 2I) Exclusion Criteria: * Investigator assessment of inability to comply with protocol * History of a congenital cardiac defect or other cardiac disease unrelated to muscular dystrophyALL2024-10-18T00:00:002010-02-092010-02-092013-01-102010-02-102013-01-112010-012012-052012-05trueThe purpose of the research study is to evaluate different cardiac measures that are obtained by echocardiographic tests in patients with muscular dystrophy.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Limb Girdle Muscular Dystrophy48False818FalseFalseFalseFalse NCT01803412DMD115501BioMarin PharmaceuticalINDUSTRYA Study of the Safety, Tolerability & Efficacy of Long-term Administration of Drisapersen in US & Canadian Subjects2018-06TERMINATEDThis is a phase III, multicenter, open-label, uncontrolled extension study in male subjects with DMD open to eligible US and Canadian subjects who previously participated in the following studies of drisapersen: DMD114876, DMD114044 and DMD114349. Subjects will receive 6mg/kg subcutaneous drisapersen on a weekly basis. For subjects who have previously experienced significant safety or tolerability issues or who experience these during the study, there is the potential of an alternate intermittent dosing arm that will be given as a regimen of 6 mg/kg weekly for 8 weeks followed by 4 weeks off treatment. For subjects who experience or have previously experienced significant safety/tolerability issues, side effects or reactions or intermittent dosing, intravenous dosing will be made available.INTERVENTIONALInclusion Criteria: * Participation in an eligible drisapersen study as follows: (A) Prior DMD114876 subjects: Subjects who completed both the 24 week double-blind treatment and 24 week post-treatment phases in study DMD114876 OR Subjects who withdrew from the treatment portion of study DMD114876 due to meeting laboratory safety stopping criteria may be eligible to enrol in the extension study if: the laboratory parameters that led to stopping have resolved; the principal investigator (PI) considers the benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the Medical Monitor (B) Prior DMD114044 Subjects: US subjects who completed study DMD114044 in another country and who want to return to the US to participate in study DMD115501, upon agreement by a DMD115501 Investigator OR US citizens who participated in DMD114044 but who had to withdraw from the study due to meeting laboratory safety stopping criteria may be eligible to enrol in DMD115501 if: the laboratory parameters that led to stopping have resolved; the PI considers the benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the Medical Monitor and upon agreement by a DMD115501 investigator (C) Prior DMD114349 Subjects: US subjects who participated in and completed study DMD114044 in another country and who entered into the ongoing open-label extension study DMD114349 in a country outside the US who wish to withdraw from DMD114349 and return to the US to participate in study DMD115501, upon agreement by a DMD115501 investigator. Canadian subjects who participated in the DMD114349 study OR Canadian subjects who withdrew from the treatment portion of the study DMD114349 due to meeting laboratory safety stopping criteria may be eligible to enroll in the extension study if the laboratory parameters that led to stopping have resolved; the PI considers the benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the Medical Monitor. * Continued use of glucocorticoids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on steroids for the duration of the study. Changes to or cessation of glucocorticoids will be at the discretion of the PI in consultation with the subject/parent and the Medical Monitor. If subject is not on steroids, involvement in the study needs to be discussed with the medical monitor. * Willing and able to comply with all protocol requirements and procedures (with the exception of those assessments requiring a subject to be ambulant, for those subjects who have lost ambulation) * Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations) Exclusion Criteria: * Subject had a serious adverse experience or who met safety stopping criteria that remains unresolved from studies DMD114876, DMD114044, or DMD114349, which in the opinion of the investigator could have been attributable to study medication, and which is ongoing. Once resolved, subject may be eligible to enrol following PI consultation with the Medical Monitor * Use of anticoagulants, antithrombotics or antiplatelet agents, or previous treatment with investigational drugs except for drisapersen, within 28 days of the first administration of study medication * Participation in any other investigational clinical trial within 30 days prior to the start of screening, or during this clinical study. If subject has participated in any other study within 6 months, this should be discussed with the medical monitor prior to study entry. * History of significant medical disorder which may confound the interpretation of either efficacy or safety data (e.g. current or history of renal or liver disease/impairment, history of inflammatory illness) * Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \<45% at Screening, the investigator should discuss inclusion of subject in the study with the medical monitor * A platelet count under the lower limit of normal at screening. A re-test within the screening period is permissible and if within normal range the subject may enter the study.MALE2024-10-18T00:00:002013-02-282013-02-282018-06-122013-03-042018-06-142013-05-012016-06-012016-10-01falseTrueFalseThis is a phase III, multicenter, open-label, uncontrolled extension study in male subjects with DMD open to eligible US and Canadian subjects who previously participated in the following studies of drisapersen: DMD114876, DMD114044 and DMD114349. Subjects will receive 6mg/kg subcutaneous drisapersen on a weekly basis. For subjects who have previously experienced significant safety or tolerability issues or who experience these during the study, there is the potential of an alternate intermittent dosing arm that will be given as a regimen of 6 mg/kg weekly for 8 weeks followed by 4 weeks off treatment. For subjects who experience or have previously experienced significant safety/tolerability issues, side effects or reactions or intermittent dosing, intravenous dosing will be made available.Muscular DystrophiesPHASE353Incidence and severity of Adverse Events (AEs)AEs will be assessed from Pre-baseline visit until 20 weeks after the subject has either completed the study or withdrawn from treatment early. AEs are any untoward medical occurrence in a patient or clinical investigation subject, temporally associated with the use of a medicinal product, whether or not considered related to the medicinal productUp to 48 weeksSystolic and diastolic blood pressure measurements to assess the safety and tolerabilityUp to 48 weeksPulse rate and respiratory rate measurements to assess the safety and tolerabilityUp to 48 weeksBody temperature measurements to assess the safety and tolerabilityUp to 48 weeks12-Lead Electrocardiogram (ECG) measurements to assess the safety and tolerabilityThe following parameters will be assessed: heart rate, intervals, corrected QT (QTc) interval (Bazett). In addition, an assessment of abnormal morphology will be madeUp to 48 weeksEchocardiogram measurements to assess the safety and tolerabilityThe following parameters will be assessed: Left ventricular end-diastolic/end-systolic wall thickness (septum, posterior wall), fractional shortening (SF) and ejection fraction (LVEF) will be derived from M-mode (from the parasternal long-axis or short-axis view) for quantitative measurementsUp to 48 weeksLaboratory tests to assess the safety and tolerabilityLaboratory tests will include hematology, biochemistry and urinalysis parametersUp to 48 weeksMuscle function assessment using 6-minute walking distance (6MWD) testSubjects will be asked to walk, at their own preferred speed, up and down a fixed distance until they are told to stop after 6 minutes. The subjects are warned of the time and are told that they may stop earlier if they feel unable to continue. The total distance walked within 6 minutes (or until the subject stopped in case of early termination of the test) will be recorded in meters, as well as any falls. Subjects who became non-ambulant in the prior study or who become non-ambulant during this study will not be able to perform thisUp to 48 weeksNorth Star Ambulatory Assessment (NSAA)The NSAA is a functional scale devised from the Hammersmith Scale of Motor Ability specifically for use in ambulant children with DMD. It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). The scale assesses activities that are required for ambulatory activity and includes items that are rarely achieved in untreated DMD (jump, hop, raise head) as well as items that are known to progressively deteriorate over time (stand from a chair, walk)Up to 48 weeksPulmonary function assessmentNon-invasive spirometry will be conducted to determine actual and percent values for Forced Vital Capacity (FVC) and Forced Expiratory Volume (FEV1)Up to 48 weeksTime to major disease milestonesMajor disease milestones are defined as those events that occurred since the last time they were assessed and include the following muscular dystrophy-related milestones: Achilles tendon contracture, hamstring contracture, lumbar lordosis, limb skeletal deformity, loss of ambulation, respiratory support during the day, respiratory support during sleep, scoliosis, use of leg braces, use of orthoses, use of special shoes, using Gower's maneuver or other milestone (to be specified)Up to 48 weeksFunctional Outcomes assessmentOne assessments will be completed to observe the changes in the ability of the subject to perform usual day-to-day activities during the study: Functional Outcomes Survey - by the family/caregivers who attends the scheduled clinic visit.Up to 48 weeksFalse5FalseFalseFalseFalse NCT039471122019/260Haukeland University HospitalOTHERPhysical Activity Level of Norwegian Boys With Duchenne Muscular Dystrophy2021-11COMPLETEDThe aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy boys. A co-project will validate ActiGraph accelerometry to measure physical activity in boys with DMD.OBSERVATIONALInclusion Criteria: * Boys with conclusive diagnosis of Duchenne Muscular disease, attending Norwegian pediatric rehabilitation clinics. * Signed written consent * Able to answer questionnaires with help from parents, care giver(s) or health care professional with regular follow up of the participants. Exclusion Criteria: * Lack of consent. * Language difficulties * Cognitive dysfunction or mental retardation leading to difficulties in answering the questionnaires adequatelyMALE2024-10-18T00:00:002019-05-092019-05-092021-12-282019-05-132021-12-292020-08-202021-06-302021-06-30FalseFalseThe aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy boys. A co-project will validate ActiGraph accelerometry to measure physical activity in boys with DMD.Duchenne Muscular Dystrophy28Physical activity registrationAn Actigraph will be provided and worn at pre set time frame (Seven days including weekend). Data extracted are counts per minutes, and are measurements of movement performed in both vertical and horizontal axis. The counts will be used to quantify the time the participant is inactive, low, moderate and / or in vigorous physical active.Seven daysLeisure time physical activityThe UngKan-3 questionnaire is a self-reported/parent-reported instrument, developed to measure leisure time physical activity, diet, media habits and sleep routine. The questionnaire is former used in a national cross-sectional survey amongst Norwegian school students, developed by the Norwegian School of Sport Sciences and Norwegian Institute of Public Health.Day 1Self-Reported QuestionnaireSelf-administrated questionnaire developed to describe participants function, on-going treatment, movement aid, types of physical activitiesDay 1False618FalseFalseFalseFalse NCT03167255NS-065/NCNP-01-202NS Pharma, Inc.INDUSTRYExtension Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)2022-12COMPLETEDThis is an open-label, extension study of NS-065/NCNP-01 administered intravenously once weekly for an additional 192 weeks to boys with DMD who complete Study NS-065/NCNP-01-201.INTERVENTIONALInclusion Criteria: 1. Completed Study NS-065/NCNP-01-201 through Week 25. 2. Willing and able to comply with scheduled visits, investigational product administration plan, and study procedures. 3. Stable dose of glucocorticoid (GC), and is expected to remain on the stable dose for the duration of the study. Exclusion Criteria: 1. Serious or severe adverse event in Study NS-065/NCNP-01-201 that precludes safe use of NS-065/NCNP-01. 2. Patient had a treatment which was made for the purpose of dystrophin or its related protein induction after completion of Study NS-065/NCNP-01-201. 3. Patient took any other investigational drugs after completion of Study NS-065/NCNP-01-201. 4. Patient was judged by the investigator and/or the Sponsor that it was not appropriate to participate in the extension study for other reasons.MALE2024-10-18T00:00:002017-05-222017-05-232022-12-012017-05-252022-12-282017-07-062021-10-202021-11-15trueTrueFalseThis is an open-label, extension study of NS-065/NCNP-01 administered intravenously once weekly for an additional 192 weeks to boys with DMD who complete Study NS-065/NCNP-01-201.Duchenne Muscular DystrophyPHASE216Change From Baseline in Time to Stand (TTSTAND) Versus Matched Historical ControlsA primary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Stand (TTSTAND)Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Time to Stand (TTSTAND) Velocity Versus Matched Historical ControlsA primary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Stand (TTSTAND) VelocityBaseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Number of Participants With Treatment Related Adverse Events as Assessed by CTCAE v4.0.For adverse events (AEs) starting in study 201 (NCT02740972) which are not resolved at the time of enrollment into this study 202, any change in outcome or relatedness were reported in study 201. For AEs starting in study 201 which increase in severity or becomes serious after enrollment in this study 202, a new AE was reported in this study. Treatment-emergent AEs (TEAEs) were summarized by dose level. Coding was done by system organ class and preferred term (using the Medical Dictionary for Regulatory Activities (MedDRA)). Level of severity was assessed using the CTCAE grading system.Up to 192 weeks of treatmentChange From Baseline in Time to Run/Walk 10 Meters Test (TTRW) Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Run/Walk 10 meters test (TTRW)Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Time to Run/Walk 10 Meters Test (TTRW) Velocity Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Run/Walk 10 meters test (TTRW) Velocity. The results were converted into velocity (meter/time).Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Time to Climb 4 Stairs (TTCLIMB) Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Climb 4 stairs (TTCLIMB)Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Time to Climb 4 Stairs (TTCLIMB) Velocity Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Climb 4 stairs (TTCLIMB) Velocity. The results were converted into velocity (meter/time).Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in North Star Ambulatory Assessment (NSAA) Score Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): North Star Ambulatory Assessment (NSAA) score The NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.Baseline 201, Weeks 37, 49, 73, 109, 157 in Study 202Change From Baseline in Six-Minute Walk Test (6MWT) Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Six-Minute Walk Test (6MWT)Baseline 201, Weeks 37, 49, 73, 109, 157 in Study 202Change From Baseline in Quantitative Muscle Testing (QMT) for Handgrip Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Handgrip For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side. QMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Quantitative Muscle Testing (QMT) for Elbow Flexors Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Elbow Flexors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side. QMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Quantitative Muscle Testing (QMT) for Elbow Extensors Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Elbow Extensors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side. QMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Quantitative Muscle Testing (QMT) for Knee Flexors Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Knee Flexors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side. QMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202Change From Baseline in Quantitative Muscle Testing (QMT) for Knee Extensors Versus Matched Historical ControlsA secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Knee Extensors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side. QMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202False410FalseFalseFalseFalse NCT033752555051-101Sarepta Therapeutics, Inc.INDUSTRYA Study to Evaluate the Safety, Tolerability, and Pharmacokinetics of a Single Dose of SRP-5051 (Vesleteplirsen) in Patients With Duchenne Muscular Dystrophy (DMD)2022-06COMPLETEDThe purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics (PK) of 5 escalating doses of SRP-5051 (vesleteplirsen) administered as a single dose to patients with DMD amenable to exon 51 skipping treatment.INTERVENTIONALInclusion Criteria: * Has a genetic diagnosis of DMD and an out-of-frame deletion mutation of the DMD gene amenable to exon 51 skipping treatment * Has been on a stable dose of oral corticosteroids for at least 12 weeks prior to study drug administration with continued dosing of oral corticosteroids while participating in the study\*, or has not received corticosteroids for at least 12 weeks prior to study drug administration and will not initiate dosing of oral corticosteroids while participating in the study Exclusion Criteria: * Has a left ventricular ejection fraction (LVEF) less than (\<) 40 percent (%) based on an echocardiogram (ECHO) performed within 3 months prior to Screening or at the Screening visit * Has a QT interval corrected with Fridericia's method (QTcF) \>= 450 millisecond (msec) on the Screening electrocardiogram (ECG) * Initiation or change of dosing (except for modifications to accommodate changes in weight) within 12 weeks prior to Screening and while participating in the study for any of the following: angiotensin-converting enzyme (ACE) inhibitors, angiotensin-receptor blocking agents (ARBs), beta-blockers, or potassium * Requires antiarrhythmic and/or diuretic therapy for heart failure * Forced vital capacity (FVC) \<40% of predicted value within 3 months of Screening or at the Screening visit * Known kidney disease or had an acute kidney injury within 6 months prior to Screening * Treatment with eteplirsen or drisapersen within 6 months prior to Screening, or any experimental gene therapy for the treatment of DMD at any time * Use of any herbal medication/supplement containing aristolochic acid Other inclusion/exclusion criteria apply. \*The dose of steroids must remain constant except for modifications to accommodate changes in weight.MALE2024-10-18T00:00:002017-12-122017-12-142022-06-302017-12-182022-07-062018-02-052019-08-192019-08-19falseTrueFalseThe purpose of this study is to evaluate the safety, tolerability, and pharmacokinetics (PK) of 5 escalating doses of SRP-5051 (vesleteplirsen) administered as a single dose to patients with DMD amenable to exon 51 skipping treatment.Muscular Dystrophy, DuchennePHASE115Number of Participants with Adverse Events (AEs)An AE is any untoward medical occurrence in a clinical trial participant, which does not necessarily have a causal relationship with the investigational drug. An AE can, therefore, be any unfavorable and unintended symptom, sign, disease, condition, or test abnormality that occurs during or after administration of the study drug, whether or not considered related to the study drug.From signing of informed consent to 12 weeks after the last infusion of SRP-5051 (Up to 14 weeks)Maximum Plasma concentration (Cmax) of SRP-5051Plasma samples to be collected via peripheral venipuncture from the contralateral arm used for drug infusion.Pre-dose, mid-infusion, end of infusion, post-dose (0.25, 0.5, 1, 2, 4, 8, 12 hours)Area under the plasma concentration versus time curve (AUC) of SRP-5051Plasma samples to be collected via peripheral venipuncture from the contralateral arm used for drug infusion.Pre-dose, mid-infusion, end of infusion, post-dose (0.25, 0.5, 1, 2, 4, 8, 12 hours)False12TrueTrueFalseFalse NCT052745552019/07-65Dokuz Eylul UniversityOTHERReliability and Validity of the Turkish Version of the Upper Limb Short Questionnaire in Duchenne Muscular Dystrophy2022-06COMPLETEDPurpose: This study aimed to evaluate the construct validity and reliability of the Turkish version of the Upper Limb Short Questionnaire (ULSQ) in Duchenne muscular dystrophy (DMD). Materials and methods: A total of 41 children with DMD have participated in the study. Upper and lower extremities functional levels were assessed with Vignos Scale and Brooke Upper Extremity Functional Rating Scale, respectively. The construct validity of the questionnaire was determined using the correlation between the ULSQ and ABILHAND-Kids. The Cronbach alpha value was calculated to determine internal consistency. To determine test-retest reliability, 17 randomly selected children were evaluated seven days after the first evaluation, and the "Intraclass Correlation Coefficient (ICC)" value was calculated.OBSERVATIONALInclusion Criteria: * being diagnosed with DMD, being between the ages of 5-18, not having any additional neurological disorder, volunteering to participate in the research Exclusion Criteria: * patients diagnosed after 10 years of age, patients who had never taken corticosteroids, and patients aged 14 years or older but were still ambulatoryMALE2024-10-18T00:00:002022-03-022022-03-022022-06-072022-03-102022-06-092019-03-272021-04-252021-06-29FalseFalsePurpose: This study aimed to evaluate the construct validity and reliability of the Turkish version of the Upper Limb Short Questionnaire (ULSQ) in Duchenne muscular dystrophy (DMD). Materials and methods: A total of 41 children with DMD have participated in the study. Upper and lower extremities functional levels were assessed with Vignos Scale and Brooke Upper Extremity Functional Rating Scale, respectively. The construct validity of the questionnaire was determined using the correlation between the ULSQ and ABILHAND-Kids. The Cronbach alpha value was calculated to determine internal consistency. To determine test-retest reliability, 17 randomly selected children were evaluated seven days after the first evaluation, and the "Intraclass Correlation Coefficient (ICC)" value was calculated.Duchenne Muscular Dystrophy;Upper Extremity Problem41Upper Limb Short QuestionnaireThe Upper Limb Short Questionnaire consists of questions about UE function (5 items), pain (6 items), and stiffness (3 items). ULSQ can be used as an identifier of arm-hand limitations during the clinical investigation. The total score changes between 0 and 14. Lower scores present children have more problems in the upper extremities.2 yearsABILHAND-KidsThat evaluates upper extremity function according to 18 different activities performed by children. The total score calculates by summing the grades that children get from each item and change between 0 and 36. Lower scores present lower ability while higher scores indicate higher ability of the hand/upper extremity in the ABILHAND-Kids.2 yearsThe Vignos ScaleThis scale classifies patients' walking abilities in 10 grades ranging from 1 to 10. At the first level, the patient can walk and climb the steps without assistance, but at the last level, patient is confined to bed.2 yearsThe Brooke Upper Extremity Functional Rating ScaleIt classifies upper extremity function with 6 different levels based on the children's upper extremity movements. Level 1 means patient can start the movement with the arms at the sides and fully joins the hands above the head, Level 6 is defined as unable to raise their hands to their mouths and cannot use their hands functionally.2 yearsFalse518FalseFalseFalseFalse NCT06053814NS-050/NCNP-03-101NS Pharma, Inc.INDUSTRYNS-050/NCNP-03 in Boys With DMD (Meteor50)2024-02NOT_YET_RECRUITINGThis is a Phase 1/2 study of Multiple-Ascending Dose (MAD) levels for 12 weeks of treatment followed by 24 weeks of open-label treatment with a selected dose of NS-050/NCNP-03 administered once weekly to ambulant boys with DMD, who have a DMD mutation amenable to exon 50 skipping.INTERVENTIONALInclusion Criteria: * Male ≥ 4 years and \<15 years of age; * Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 50 to restore the dystrophin mRNA reading frame; * Able to walk independently without assistive devices; * Able to complete the TTSTAND without assistance in \<7 seconds; * Stable dose of glucocorticoid for at least 3 months and the dose is expected to remain on a stable dose for the duration of the study. Other inclusion criteria may apply. Exclusion Criteria: * Evidence of symptomatic cardiomyopathy; * Current or previous treatment with anabolic steroids (e.g., oxendolone, oxandrolone) or products containing resveratrol or adenosine triphosphate within 3 months prior to first dose of study drug; * Currently taking another investigational drug or has taken another investigational drug within 3 months prior to the first dose of study drug; * Surgery within the 3 months prior to the first dose of study drug or planned during the study duration; * Having taken any gene therapy. Other exclusion criteria may apply.MALE2024-10-18T00:00:002023-09-192023-09-192024-02-132023-09-262024-02-152024-072027-052027-05trueTrueFalseThis is a Phase 1/2 study of Multiple-Ascending Dose (MAD) levels for 12 weeks of treatment followed by 24 weeks of open-label treatment with a selected dose of NS-050/NCNP-03 administered once weekly to ambulant boys with DMD, who have a DMD mutation amenable to exon 50 skipping.Duchenne Muscular DystrophyPHASE1PHASE220Part 1: Overall Summary of Treatment-emergent Adverse Events (TEAEs)TEAEs will be summarized both at the patient level for number of TEAEs, highest severity, relationship, action, and outcome, and at the TEAE level (summarizing events) by system organ class (SOC) and preferred term (PT) as well as severity, relationship, action, and outcome. The most recent version of the Medical Dictionary for Regulatory Activities (MedDRA) will be used for coding TEAEs.Baseline up to Week 24Part 1: Area Under the Plasma Concentration Versus Time Curve (AUC) of NS-050/NCNP-03Blood samples will be collected at the designated time frame. Pharmacokinetic (PK) parameters of NS-050/NCNP-03 will be calculated using non-compartmental methods.Day 1 (1st dose) for each dose levelPart 1: Amount of Drug Excreted in Urine of NS-050/NCNP-03Urine samples will be collected at the designated time frame. PK parameters of NS-050/NCNP-03 will be calculated using non-compartmental methods.Day 1 (1st dose) for each dose levelPart 2: Change from baseline in skeletal muscle dystrophin protein by immunoblot (Western blot)Baseline, Week25Part 2: Change from baseline in skeletal muscle dystrophin protein by mass spectrometryBaseline, Week25Part 2: Change from baseline in skeletal muscle dystrophin protein levels by immunofluorescence stainingBaseline, Week25Part 2: Change from baseline in percentage of exon 50-skipped mRNA of skeletal muscle dystrophinBaseline, Week25Part 2: North Star Ambulatory Assessment (NSAA) scoreThe NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.Baseline, Week13, Week25Part 2: Time to Stand (TTSTAND)Baseline, Week13, Week25Part 2: Time to Run/Walk 10 Meters (TTRW)Baseline, Week13, Week25Part 2: Time to Climb 4 Stairs (TTCLIMB)Baseline, Week13, Week25Part 2: Total distance of 6 Minute Walk Test (6MWT)Baseline, Week13, Week25Part 2: Muscle strength measured by Quantitative Muscle Testing (QMT)Baseline, Week13, Week25Part 2: Grip/Pinch StrengthBaseline, Week13, Week25Part 2: Performance of Upper Limb (PUL) 2.0. scoreThe PUL 2.0 provides both a total score and sub-scores for the 3 domains (shoulder, middle, and distal) that in DMD are progressively involved with a proximal to distal gradient. The PUL includes 22 items with an entry item to define the starting functional level. The 22 items are subdivided into the high level shoulder dimension (6 items), middle level elbow dimension (9 items), and distal wrist and hand dimension (7 items). For weaker patients, a low score on the entry item (0 2) means high level items do not need to be performed. Scoring options vary across the scale between 0-1 and 0-2 according to performance. Each dimension can be scored separately with a maximum score of 12 for the high level shoulder dimension, 17 for the middle level elbow dimension, and 13 for the distal wrist and hand dimension. A total score can be achieved by adding the 3 level scores (maximum total score of 42).Baseline, Week13, Week25False414FalseFalseFalseFalse NCT03372655PFADMDAssiut UniversityOTHERPrognostic Factors Affecting Duchenne Muscular Dystrophy2017-12UNKNOWNDetermination of prognostic factors affecting ambulation of duchenne muscular dystrophyOBSERVATIONALInclusion Criteria: * any male pt diagnosed as duchenne muscular dystrophy by typical clinical picture \&shooting serum CPK level \&EMG study or biopsy \& age 10 to 18yrs old Exclusion Criteria: * female patient ' age below 10 yrs old or above 18 yrs old .patient with autoimmune disease or malignancyMALE2024-10-18T00:00:002017-12-062017-12-102017-12-102017-12-142017-12-142018-01-012019-01-012019-03-01FalseFalseDetermination of prognostic factors affecting ambulation of duchenne muscular dystrophyDuchenne Muscular Dystrophy82Ten meter walking testQuestionnaire2018 - 2019Muscle strenghtQuestionnaire2018- 20191018FalseFalseFalseFalse NCT02472990MARCHE-DMDUniversity Hospital, BrestOTHERBiomechanical and Morphological Changes in Dystrophic Muscle2018-03UNKNOWNThe loss of ability to walk in many children with DMD (Duchenne muscular Dystrophy) is a pejorative event. Biomechanical and morphological unknowledge about the loss of the walk ability in children with DMD is an obstacle in reeducative, pharmacological or surgical therapeutic targets.INTERVENTIONALInclusion Criteria: * Young man ou woman (5 to 17 years old) with Duchenne Muscular Dystrophy (confirmed by immunohistochimy on the muscular biopsy and/or mutation in the dystrophin confirmed by molecular biology) * Time more than 7 secondes to test of 10 m and/or distance less than 330 m to walk test of 6 minutes. These values are recent markers to include children with a strong risk of loss of walking ability in 2 years. * Parental inform sign consent and / or child inform consent Exclusion Criteria: * Recent orthopaedic surgery of lower limbs (6 months) * Other chronic disease associated, which have an impact on the walking * Cognitive Deficiency or behavior disorders limiting the understanding of the study * Children who can benefit ATU (translarna ® or other) during the study * All MRI contradications : pacemaker or neurosensory stimulator or implantable defibrillator, neurosurgical valves, cochlear implant or ferromagnetic implants near nervous structures, brace, metallic prostheses, not cooperative or agitated patients, patient claustrophobic, pregnant woman.ALL2024-10-18T00:00:002015-06-102015-06-152018-03-152015-06-162018-03-162015-072020-012021-01trueThe loss of ability to walk in many children with DMD (Duchenne muscular Dystrophy) is a pejorative event. Biomechanical and morphological unknowledge about the loss of the walk ability in children with DMD is an obstacle in reeducative, pharmacological or surgical therapeutic targets.Duchenne Dystrophy MuscularNA50Determine biomechanical and morphological predictive factors of the loss of the walk ability of the children with DMDDetermine the biomechanical factors (muscular atrophy, muscular strength, muscular shrinkage) and morphological (greasy infiltration, contractile portion, muscular geometry) predictive of the loss of the walk ability of the children with DMD24 yearsIdentify the muscles wasting and their implication in the loss of strength and the walking abilityIdentify the muscles wasting and their implication in the loss of strength and walking. This will be made possible thanks to the predictive analysis and the evolutionary analysis of the MRI and strength before and after loss of walking ability24 yearsBiomechanical evolutionary data collected during the last 2 years of walkingBiomechanical evolutionary data collected during the last 2 years of walking by the repetition of the analysis of the walking until the loss of the walking ability.24 yearsEstablish the relationship between the parameters of walking and the scrawny body morphological anomaliesEstablish the relationship between the parameters of walking and the scrawny body morphological anomalies (muscular Atrophy, greasy infiltration, contractile muscular portion, three-dimensional morphological parameters) by doing correlations analysis24 yearsTrue517FalseFalseFalseFalse NCT0109870810-0067Washington University School of MedicineOTHERThis is a Study to Get More Information About Non Ambulatory Boys & Men With Duchenne Muscular Dystrophy2017-01COMPLETEDMany therapeutic trials in DMD exclude non-ambulatory boys and men. Rate of progression in these non-ambulatory patients has been studied but consensus has not been reached for what measures are most reliable and reproducible. Furthermore, any treatment trial would be expected to demonstrate improved function and improvement in quality of life. Therefore, function, strength, and quality of life must be understood and standardized. While the goal of this proposal is to standardize clinical outcomes for therapeutic trials, careful understanding of the progression of DMD in non ambulatory boys may also lead to better medical treatment.OBSERVATIONALInclusion Criteria: 1. For Non-ambulatory study, boys must be unable to walk without assistive devices for greater than or equal to one year. 2. Age at onset of study for non-ambulatory boys and men: greater than or equal to 7 years through age 22 years. 3. Genetic or biopsy confirmation of dystrophinopathy or clinical diagnosis of DMD with biopsy/genetic confirmation in a primary relative. Exclusion Criteria: 1. For Non-ambulatory study, the inability to understand and cooperate with the testing would exclude a subject. -MALE2024-10-18T00:00:002010-04-012010-04-012017-01-172010-04-052017-01-182010-032013-112013-11falseMany therapeutic trials in DMD exclude non-ambulatory boys and men. Rate of progression in these non-ambulatory patients has been studied but consensus has not been reached for what measures are most reliable and reproducible. Furthermore, any treatment trial would be expected to demonstrate improved function and improvement in quality of life. Therefore, function, strength, and quality of life must be understood and standardized. While the goal of this proposal is to standardize clinical outcomes for therapeutic trials, careful understanding of the progression of DMD in non ambulatory boys may also lead to better medical treatment.Duchenne Muscular Dystrophy50Dystrophin gene mutations that predispose to early onset cardiomyopathy3 yearsFalse722FalseFalseTrueTrue NCT024183389458University Hospital, MontpellierOTHER2D Strain Evaluation: Children With Duchenne Muscular Dystrophy Versus Healthy Children2019-06COMPLETEDCompare systolic function of left ventricle (LV) and right ventricle (VD) by 2D strain evaluation in Duchenne muscular dystrophy children versus a control group.INTERVENTIONALInclusion Criteria: * Duchenne's muscular dystrophy (group 1) followed in our institution's referral center of neuromuscular diseases, during regular annual echocardiography follow-up. * Healthy children (group 2), addressed in pediatric cardiologyALL2024-10-18T00:00:002015-04-132015-04-152019-06-052015-04-162019-06-072014-012017-062017-06trueCompare systolic function of left ventricle (LV) and right ventricle (VD) by 2D strain evaluation in Duchenne muscular dystrophy children versus a control group.Duchenne Muscular DystrophyNA99global longitudinal LV 2D strainday 1True17FalseFalseFalseFalse NCT06402942LHU20241004Lokman Hekim ÜniversitesiOTHER_GOVGamified Occupational Therapy for Adolescents With Duchenne Muscular Dystrophy2024-07RECRUITINGThis research aims to improve the quality of life, occupational performance, occupational satisfaction and emotional health of young people with Duchenne muscular dystrophy compared to the classical occupational therapy program. The findings are planned to shed light on the development of new and effective strategies in the rehabilitation of adolescents with Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Being diagnosed with Duchenne muscular dystrophy * To be literate in Turkish * To have scored 27 points or more on the Modified Mini Mental Test * Having a computer, tablet and internet connection * Volunteering to participate in the study by their parents and reading and signing the informed consent form Exclusion Criteria: * Having a neurological disease other than Duchenne muscular dystrophy and/or another diagnosed neurological disease accompanying Duchenne muscular dystrophy * Having a cooperation problem that prevents completing the assessments for any reason * Difficulty understanding and speaking the Turkish languageMALE2024-10-18T00:00:002024-05-032024-05-032024-07-162024-05-072024-07-182024-09-012025-03-212025-05-08falseFalseFalseThis research aims to improve the quality of life, occupational performance, occupational satisfaction and emotional health of young people with Duchenne muscular dystrophy compared to the classical occupational therapy program. The findings are planned to shed light on the development of new and effective strategies in the rehabilitation of adolescents with Duchenne muscular dystrophy.Duchenne Muscular Dystrophy;Gamification;Occupational TherapyNA20Demographic information formAt the start of the evaluationsModified Mini Mental State Testbefore and after the eight-week intervention programsVignos lower extremity functional scaleThis scale was developed to assess the level of ambulation in neuromuscular diseases and consists of 10 stages. In this scale, the ambulation level of the person decreases from the first stage to the tenth stage.before and after the eight-week intervention programsBrooke upper extremity functional classification scaleThis scale was developed to assess the functional levels of the upper extremity in neuromuscular diseases and consists of 6 stages. In this scale, progression from the first stage to the sixth stage indicates a decrease in the functionality of the upper extremity.before and after the eight-week intervention programsThe Pediatric Quality of Life Inventory 3.0 Neuromuscular Modulebefore and after the eight-week intervention programsCanadian Occupational Performance Measurebefore and after the eight-week intervention programsChildren's Depression InventoryConsisting of 27 items and using a 3-point Likert-type scale, this scale assesses the depression levels of children between the ages of 6-17. The total score of the scale, which measures the emotional state in the last 2 weeks, is 54 and the severity of depression increases as the total score increases. The cut-off value of the scale was determined as 19 points.before and after the eight-week intervention programsThe Pediatric Quality of Life Inventory Multidimensional Fatigue ScaleThis scale consists of 18 items and 3 subsections: general fatigue (6 items), fatigue during sleep/rest (6 items) and cognitive fatigue (6 items). Separate scores can be calculated for each subsection and the total score is obtained by summing the scores obtained from these sections. High scores indicate low fatigue.before and after the eight-week intervention programsThe Numeric Rating Scale - PainThis scale uses a 10-centimeter line. The left beginning of the line represents "no pain" (0 points) and the end of the line represents "excruciating pain" (10 points).before and after the eight-week intervention programsFalse1318FalseFalseFalseFalse NCT03796637PTC124-GD-046-DMDPTC TherapeuticsINDUSTRYA Study to Assess Dystrophin Levels in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) Who Have Been Treated With Ataluren2022-02COMPLETEDThis study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants. This study will evaluate dystrophin levels from participants with nmDMD who currently have been receiving ataluren for ≥9 months. The study will have a single visit (Visit 1).INTERVENTIONALInclusion Criteria: * Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. * Ambulatory (10 meters walk/run in less than \[\<\] 30 seconds) and functional grade on the Brooke Upper Extremity Scale of a 1 or a 2. * Currently being treated with ataluren 10, 10, 20 mg/kg for \>=9 months, with no gap in treatment of greater than (\>) 1 month, in an ongoing PTC-sponsored nmDMD clinical trial prior to study entry. * Phenotypic evidence of duchenne muscular dystrophy (DMD) based on the onset of characteristic clinical symptoms or signs (for example, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age and an elevated serum creatine kinase (CK). Medical documentation of phenotypic evidence of DMD needs to be provided upon request by the medical monitor. * Willing to undergo muscle biopsy. Exclusion Criteria: * Known contra-indication to muscle biopsy (such as bleeding or clotting disorders). * Exposure to another investigational drug within 2 months prior to study enrollment or ongoing participation in any non-ataluren interventional clinical trial. * Requirement for daytime ventilator assistance or any use of invasive mechanical ventilation via tracheostomy. Note: Evening non-invasive mechanical ventilation such as use of bilevel positive airway pressure (Bi-PAP) therapy is allowed. * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder), medical history, physical findings or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002019-01-042019-01-042022-03-092019-01-082022-04-052019-04-112019-06-032019-06-03falseTrueFalseThis study is designed to generate additional data on the effect of ataluren for producing dystrophin protein in nonsense mutation nmDMD participants. This study will evaluate dystrophin levels from participants with nmDMD who currently have been receiving ataluren for ≥9 months. The study will have a single visit (Visit 1).Duchenne Muscular DystrophyPHASE26Mean Dystrophin Levels as Measured by Electrochemiluminescence (ECL)The mean dystrophin protein levels were measured by ECL. Dystrophin levels are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations). Results below the limit of quantitation were imputed as half of lower limit of quantitation (LLOQ). LLOQ = 0.5 micrograms (μg)/milliliter (mL)Day 1 of biopsyDystrophin Protein Levels as Determined by ImmunohistochemistryDystrophin levels by IHC mean membrane stain density are reported by muscle group (gastrocnemius, tibialis anterior, and across muscle locations).Day 1 of biopsyFalseFalseFalseFalseFalse NCT01995032DMD02University Hospital, Basel, SwitzerlandOTHERL-citrulline and Metformin in Duchenne's Muscular Dystrophy2018-04COMPLETEDThe purpose of the study is to show that the intake of L-citrulline and metformin improves muscle function and delay of progression in patients with Duchenne's muscular dystrophy.INTERVENTIONALInclusion Criteria: * Molecular diagnosis of DMD * Patients 6.5 - 10 years of age at time of screening * Ambulant * Ability to walk 150 m in the 6 min walking distance (6MWT) * D1 subdomain of the MFM scale \>40% * stable treatment with steroids for \>6 months or steroid naïve patients Exclusion Criteria: * Previous (3 months or less) or concomitant participation in another therapeutic trial * Use of L-citrulline, L-arginine or metformin within the last 3 months * Known individual hypersensitivity to L-citrulline or metformin * known or suspected malignancy * Other chronic disease or clinical relevant limitation of renal, liver, heart function according to discretion of investigator * start of cortisone treatment or change in dosage \<6 months prior to screeningALL2024-10-18T00:00:002013-11-202013-11-202018-04-172013-11-262018-04-192013-102015-102016-03falseThe purpose of the study is to show that the intake of L-citrulline and metformin improves muscle function and delay of progression in patients with Duchenne's muscular dystrophy.Duchenne's Muscular Dystrophy (DMD)PHASE347Mean change of motor function measure (MFM) D1 subscore (assessing standing and transfers)baseline to week 26Mean change of MFM total score, the D2, and D3 MFM subscoresbaseline to week 26Mean change of six minute walking distance (6MWD)baseline to week 26Change of quantitative muscle MRI (Magnetic Resonance Imaging) including muscle fat content (MFC) and T2 times of thigh musclesbaseline to week 26Change in the plasma/urine concentration for markers of muscle necrosis, oxidative stress, nitrosative stress, and change of microRNA (miRNA)baseline to week 26Mean change of quantitative muscle force (QMT) of knee extension and elbow flexion using hand held dynamometry (HHD)baseline to week 26False7810FalseFalseTrueFalse NCT01153932114117GlaxoSmithKlineINDUSTRYPhase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy2013-08COMPLETEDThe purpose of this study is to determine whether GSK2402968 given as a continuous dose and as an intermittent dose is effective and safe in the treatment of Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Ambulant subjects with Duchenne muscular dystrophy resulting from a mutation in the DMD gene, confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by GSK2402968-induced DMD exon 51 skipping, * Males, at least 5 years of age and with a life expectancy of at least 1 year * Able to rise from floor in ≤7 seconds (without aids/orthoses), * Able to complete the 6MWD test with a distance of at least 75m * Receiving glucocorticoids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly for the duration of the study * QTc \<450msec * On adequate contraception * Able to comply with and complete all protocol requirements Exclusion Criteria: * any additional missing exon for DMD * Current of history of liver or renal disease or impairment * Acute illness within 4 weeks of the first dose * Use of prohibited meds within 6 months of fist dose * Current participation in any other investigational clinical trial * Positive hepatitis B surface antigen, hepatitis C antibody test, or human immunodeficiency virus (HIV) test at screening * Symptomatic cardiomyopathy * Children in CareMALE2024-10-18T00:00:002010-06-292010-06-292014-08-212010-06-302014-08-252010-092012-032012-09trueThe purpose of this study is to determine whether GSK2402968 given as a continuous dose and as an intermittent dose is effective and safe in the treatment of Duchenne muscular dystrophy.Muscular DystrophiesPHASE253To assess the efficacy of 2 different dosing regimens of subcutaneous GSK2402968 administered over 24 weeks in ambulant subjects with DMD48 weeksTo assess the safety and tolerability of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjectsone yearTo assess the PK of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjects with DMD48 weeksTo assess long term efficacy of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjects with DMDone yearFalse5FalseFalseTrueFalse NCT05029232Soh-Med-21-07-21Sohag UniversityOTHERComprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital2021-08UNKNOWNMuscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.INTERVENTIONALInclusion Criteria: 1. age of onset between 3- and 18-year-old 2. typical clinical manifestation of Duchenne muscular dystrophy 3. clinical manifestation confirmed by specific biochemical analysis or by genetic testing who presented to pediatric department and neurology outpatient clinic during the period of study. Exclusion Criteria: 1. children with another congenital muscular dystrophy 2. children with other types of myopathies 3. presence of CNS disorders such as brain insult \& spinal muscular atrophy 4. female genderMALE2024-10-18T00:00:002021-07-142021-08-292021-08-292021-08-312021-08-312021-10-012022-02-012023-08-01falseFalseFalseMuscular dystrophies are a heterogenous group of inherited muscular disorders characterized by progressive muscle weakness. Historically, these disorders are difficult to treat. In the last three decades, there is a great progress in molecular and genetic basis of these disorders; early diagnosis is achievable with proper clinical recognition and advanced genetic testing .Duchenne Muscular Dystrophy (DMD) is a neuromuscular muscular X-linked recessive disorders that belong to a group of disorders known as dystrophinopathies. DMD characterized by a progressive degeneration of skeletal muscles, with symptoms that manifest early, at around 3 years, causing loss of ambulation within the 13 years of life, followed by cardiac complication (e.g., dilated cardiomyopathy and arrhythmia) and respiratory disorders, including chronic respiratory failure. The unique medical treatment available is steroid therapy, which appears to prolong walking capacity by at least two years. Thus, besides medical treatment, the physical therapy in multidisciplinary care is imperative for alleviating muscle atrophy, skeletal deformities, and motor function deterioration.Duchenne Muscular DystrophyNA50change in dystrophine gene mutationMLPA testwithin six monthschange in MRI findings in DMX patient from normalby MRI brainwithin six monthschange in cardiac function in DMD patientby Echocardiography to detect EF, FSwithin six monthschange in thyroid function in DMD patientby thyroid function testwithin six monthschange in cognitive function in DMD patientsby Stanford IQ testwithin six monthsFalse318FalseFalseFalseFalse NCT014222002010-2319Children's Hospital Medical Center, CincinnatiOTHERFlu Vaccine Study in Neuromuscular Patients 20112020-09COMPLETEDThe purpose of the study is to compare the immune response of two different injection methods (Intramuscular V.S. Subcutaneous) of the 2011-2012 seasonal Influenza (Flu) vaccine among patients with neuromuscular conditions who have significant muscle degeneration. This research study hypothesizes that the subcutaneous route of vaccine administration, as compared to the intramuscular route, may confer at least comparable, or possibly better, immunogenicity. At least 30 individuals followed by the CCHMC Neuromuscular Comprehensive Care Center will be recruited to participate in this study lasting approximately one to two months with two clinic visits and one follow-up telephone call. Immunogenicity will be assessed by comparing hemagglutination inhibition (HI) antibody titers obtained pre- and post-vaccination.INTERVENTIONALInclusion Criteria: * Non-ambulatory; * Quadriceps muscle strength of MRC (Medical Research Council Scale) grade 3 or below * Any subject who is between 3 to 8 years of age must have received at least two doses of influenza vaccine last season or at least one dose tow or more years ago. Exclusion Criteria: * Subject must not have a history of severe reactions following previous immunization with influenza vaccine. * Subject must not have previously received a 2011-2012 influenza vaccine. * Subject must not have a history of Guillain-Barre syndrome. * Subject must not have received a live viral vaccine (i.e., MMR, varicella) within 28 days prior to receipt of the study vaccine. * Subject must not have any condition that the investigator believes would render vaccination unsafe or interfere with successful completion of the study.ALL2024-10-18T00:00:002011-08-222011-08-222020-10-142011-08-232020-10-192011-082011-122012-05falseThe purpose of the study is to compare the immune response of two different injection methods (Intramuscular V.S. Subcutaneous) of the 2011-2012 seasonal Influenza (Flu) vaccine among patients with neuromuscular conditions who have significant muscle degeneration. This research study hypothesizes that the subcutaneous route of vaccine administration, as compared to the intramuscular route, may confer at least comparable, or possibly better, immunogenicity. At least 30 individuals followed by the CCHMC Neuromuscular Comprehensive Care Center will be recruited to participate in this study lasting approximately one to two months with two clinic visits and one follow-up telephone call. Immunogenicity will be assessed by comparing hemagglutination inhibition (HI) antibody titers obtained pre- and post-vaccination.Duchenne Muscular Dystrophy;Spinal Muscular Atrophy;Congenital Muscular DystrophyPHASE422Geometric Mean Titer Ratio for Each Vaccine StrainSerum HI antibody titers for each vaccine strain immediately prior to study vaccine receipt and 21-28 days after study vaccine receiptimmediately before vaccination and 21-28 days after vaccinationFalse335FalseFalseFalseTrue NCT05549999NSAA-123Hacettepe UniversityOTHERCultural Adaptation, Validity, and Reliability of the Turkish Version of North Star Ambulatory Assessment2023-07COMPLETEDThe aim of this study is to translate the "North Star Ambulatory Assessment (NSAA)" scale into Turkish and make its cultural adaptation and to demonstrate the reliability and validity of the Turkish version in patients with ambulatory DMD. For the translation into Turkish, validity and reliability of the NSAA, necessary permission was obtained from the developer of the questionnaire, Prof. Dr. Francesco Muntoni, via e-mail. In the study, first of all, the translation and cultural adaptation process will be completed, and then reliability-validity studies will be carried out.OBSERVATIONALInclusion Criteria: * Being diagnosed with DMD * Ambulatory * Being between the ages of 4-18 * Agreeing to participate in the research voluntarily Exclusion Criteria: * Insufficient cooperation with the physiotherapist, * Have had any injury and/or surgery of the lower extremities in the last 6 months, * Having neurological problems in addition to DMD. -MALE2024-10-18T00:00:002022-09-192022-09-192023-07-262022-09-222023-07-282022-11-012023-03-252023-05-25falseFalseFalseThe aim of this study is to translate the "North Star Ambulatory Assessment (NSAA)" scale into Turkish and make its cultural adaptation and to demonstrate the reliability and validity of the Turkish version in patients with ambulatory DMD. For the translation into Turkish, validity and reliability of the NSAA, necessary permission was obtained from the developer of the questionnaire, Prof. Dr. Francesco Muntoni, via e-mail. In the study, first of all, the translation and cultural adaptation process will be completed, and then reliability-validity studies will be carried out.Duchenne Muscular Dystrophy;Ambulation Difficulty;Ambulation Disorder, Neurologic86North Star Ambulatory AssessmentThe North Star Ambulatory Assessment (NSAA) is a functional scale specifically designed for ambulant boys with DMD. The instrument contains clear and detailed instructions, with item scores varying according to a simple three point criteria, which should allow accurate reproduction by different groups. The scale has also the advantage to be quick to perform and to be suitable for application in young children. The NSAA also includes two timed items, run/walk for 10 meters and rise from the floor. While those times do not influence the score, they can be used to monitor changes over time. Although it was developed to assess ambulatory patients, the NSAA has been widely accepted and used to evaluate ambulatory motor performance in children and young adults with DMD, as well as in patients with other neuromuscular diseases.10 minutesMotor Function Measure (MFM)MFM, which was valid and reliable in Neuromuscular Diseases, was used for gross motor function assessment. The items in MFM, which evaluate functions in 3 different sections (D1, standing position and transfers; D2, axial and proximal motor function; D3, distal motor function) in 32 items in total, are scored between 0-3. 0; cannot initiate any movement and maintain the starting position, 1; partially completes the exercise, 2; performs the exercise slowly and visibly clumsily, with compensations, 3; performs the exercise in the specified standard pattern. High scores indicate higher motor function and the result is expressed as a percentage of the maximum possible score to enable comparison with other scores20-30 minutes6 meter walking test (6MWT)6MWT is an assessment that was developed by Balke in the 1960s and has validity and reliability for DMD patients. The maximum distance that the patient can walk in 6 minutes is recorded as meters.6 minutesFalse418FalseFalseFalseFalse NCT03368742GX1001Solid Biosciences Inc.INDUSTRYMicrodystrophin Gene Transfer Study in Adolescents and Children With DMD2024-10ACTIVE_NOT_RECRUITINGThis is a controlled, open-label, single-ascending dose study to evaluate the safety, tolerability and efficacy of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Patients will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years. The protocol was amended to drop the control arm after 4 subjects were dosed. Subjects currently enrolling are assigned to active treatment. Control subjects enrolled under original protocol will continue through the study per the original protocol.INTERVENTIONALInclusion Criteria: * Established clinical diagnosis of DMD and documented dystrophin gene mutation predictive of DMD phenotype * Confirmed absence of dystrophin as determined by muscle biopsy (ambulatory patients) * Anti-AAV9 antibodies below protocol-specified thresholds * Stable cardiac and pulmonary function * Adolescents: non-ambulatory by protocol-specified criteria * Children: ambulatory by protocol-specified criteria * Stable daily dose (or equivalent) of oral corticosteroids ≥ 12 wks Exclusion Criteria: * Prior or ongoing medical condition or physical examination, ECG or laboratory findings that could adversely affect subject safety, compromise completion of treatment and follow-up, or impair assessment of study results * Abnormal liver function * Abnormal renal function * Clinically significant coagulation abnormalities * Impaired cardiovascular function based on cardiac MRI or ECHO * Impaired respiratory function based on FVC % predicted or need for daytime ventilatory support * Significant spinal deformity or presence of spinal rods * Body mass index ≥ 95th percentile for age * Exposure to another investigational drug within 3 months or 5 half-lives prior to screening * Exposure to drugs affecting dystrophin or utrophin expression within 6 months prior to screening Additional inclusion/exclusion criteria may apply. Patients over 30 kg will not be eligible for treatment at this time. A weight limit of ≤ 18 kg will be implemented for the next two patients to be dosed.MALE2024-10-18T00:00:002017-12-052017-12-082024-10-102017-12-112024-10-152017-12-062022-10-172026-10-15trueTrueFalseThis is a controlled, open-label, single-ascending dose study to evaluate the safety, tolerability and efficacy of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Patients will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years. The protocol was amended to drop the control arm after 4 subjects were dosed. Subjects currently enrolling are assigned to active treatment. Control subjects enrolled under original protocol will continue through the study per the original protocol.Duchenne Muscular DystrophyPHASE1PHASE212Primary efficacy endpointChange from baseline in microdystrophin protein in muscle biopsies (active treatment group)12 monthsPrimary safety endpointIncidence of adverse events12 monthsPrimary safety endpointIncidence of clinical laboratory abnormalities12 monthsPrimary safety endpointIncidence of abnormalities in vital signs12 monthsPrimary safety endpointIncidence of abnormalities in physical examinations12 monthsPrimary safety endpointIncidence of abnormalities on ECGs12 monthsFalse417TrueFalseFalseTrue NCT012868701222CA-1208-01Mentor Worldwide, LLCINDUSTRYBecker Continued Access Study2019-02TERMINATEDWhile Core Becker patient follow-up is being completed this Continued Access Study is designed to enroll patients at a limited rate per month to allow for continued physician and patient experience with the device. Up to 12 patients per month at sites across the United States will be enrolled in this research study. These patients will be implanted with the Becker 25 or Becker 50 Expander/Breast implant and monitored for 10 years for safety.INTERVENTIONALInclusion Criteria: * Subject is genetic female, 18 years of age or older * A candidate for primary breast reconstruction for cancer, trauma, surgical loss of breast tissue due to mastectomy, malignancy, contralateral post-reconstruction symmetry, or congenital deformity, including asymmetry (see Section 6.0 for definition) * Signs the Informed Consent * Agrees to return device to Mentor if explant necessary * Agrees to comply with follow-up procedures, including returning for all follow-up visits * Patient is a US citizen with a Social Security Number and understands English Exclusion Criteria: * Subject is pregnant * Has nursed a child within three months of study enrollment. * Been implanted with any silicone implant including breast implants (e.g. silicone artificial joints or facial implants) * Confirmed diagnosis of the following rheumatic diseases or syndromes: SLE, Sjogren's syndrome, scleroderma, polymyositis, or any connective tissue disorder, rheumatoid arthritis, crystalline arthritis, infectious arthritis, spondylarthropathies, any other inflammatory arthritis, fibromyalgia, or chronic fatigue syndrome * Infection or abscess anywhere in the body * Demonstrates tissue characteristics which are clinically incompatible with implant (e.g. tissue damage resulting from radiation, inadequate tissue, or compromised vascularity) * Possesses any condition, or is under treatment for any condition which, in the opinion of the investigator and/or consulting physicians(s), may constitute an unwarranted surgical risk * Anatomic or physiologic abnormality which could lead to significant postoperative adverse events * Demonstrates characteristics that are unrealistic/unreasonable with the risks involved with the surgical procedure * Premalignant breast disease without a subcutaneous mastectomy * Untreated or inappropriately treated breast malignancy, without mastectomy * Are HIV positive * Implanted metal or metal devices, history of claustrophobia or other condition that would make a MRI scan prohibitive * Physician is intending to use the device for tissue expansion onlyFEMALE2024-10-18T00:00:002011-01-272011-01-282019-02-122011-01-312019-03-062009-06-012014-03-042014-03-04falseWhile Core Becker patient follow-up is being completed this Continued Access Study is designed to enroll patients at a limited rate per month to allow for continued physician and patient experience with the device. Up to 12 patients per month at sites across the United States will be enrolled in this research study. These patients will be implanted with the Becker 25 or Becker 50 Expander/Breast implant and monitored for 10 years for safety.Breast ReconstructionPHASE411Safety by Incidence, Severity, and Duration of Adverse Events4 YearsSafety by Method of Resolution of Adverse Events4 YearsFalse18FalseFalseFalseFalse NCT03541070KA-17070-1Hacettepe UniversityOTHERThe Effect of Kinesiology Taping on Balance in Duchenne Muscular Dystrophy2018-05COMPLETEDInvestigators investigated that the effects of kinesilogy taping on balance in patients with Duchenne Muscular DystrophyINTERVENTIONALInclusion Criteria: DMD diagnosis being Level I and II according to Brooke Lower Extremity Functional Classification no cooperation problem no injury or orthopedic/neurologic surgery within the past 6 months no severe contracture at ankle Exclusion Criteria: children who did not meet the above criteria were not includedMALE2024-10-18T00:00:002018-05-152018-05-292018-05-292018-05-302018-05-302017-06-102017-09-152017-11-10falseFalseFalseInvestigators investigated that the effects of kinesilogy taping on balance in patients with Duchenne Muscular DystrophyBalance;Duchenne Muscular DystrophyNA45Balance Test-Timed up and go testTimed up and go test is a valid and practical objective measure for the pediatric population that measuring various components such as walking speed, postural control, functional mobility and balance. The children were asked to stand up from a chair, walk during 3 meters, turn, and walk back to chair and sit down. This time was recorded as secondAbout 15 secondsPediatric Berg Balance TestPediatric Berg Balance Test is a modified version of the Berg Balance Scale that a valid and reliable test for the elderly population, for children in school age with mild to moderate motor impairment. The patients were asked to maintain their balance at the positions indicated in the test. The score of each item varies according to the parameters of the test. The score of this test is between 0-4 and the highest total score is 56.15 minutesduration in standing on one legDuration in standing on right and left leg was recorded as secondabout 1 minuteFalse514FalseFalseFalseFalse NCT035325424045-302Sarepta Therapeutics, Inc.INDUSTRYAn Extension Study to Evaluate Casimersen or Golodirsen in Patients With Duchenne Muscular Dystrophy2024-09TERMINATEDThe main objective of this study is to evaluate the safety and tolerability of long-term treatment with casimersen or golodirsen in patients with Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Completed a clinical trial evaluating casimersen or golodirsen, per protocol. * Is between 7 and 23 years of age, inclusive, at enrollment. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002018-05-102018-05-102024-09-132018-05-222024-09-192018-08-022023-07-262023-07-26trueTrueFalseThe main objective of this study is to evaluate the safety and tolerability of long-term treatment with casimersen or golodirsen in patients with Duchenne muscular dystrophy (DMD).Duchenne Muscular DystrophyPHASE3171Number of Participants With Treatment-emergent Serious Adverse Events (TESAEs)A treatment-emergent adverse event (TEAE) was any untoward medical occurrence in a clinical study participant that did not necessarily have a causal relationship with the study drug. A TEAE could, therefore, be any unfavorable and unintended symptom, sign, disease, condition, or test abnormality that occurred during or after administration of the study drug, whether or not considered related to the study drug. A TESAE was any TEAE that resulted in any of the following outcomes: death, a life-threatening event, required or prolonged inpatient hospitalization, persistent or significant disability/incapacity, or an important medical event (that is, may have jeopardized the participant and may have required medical or surgical intervention to prevent one of the previously mentioned outcomes). A summary of serious and all other non-serious TEAEs regardless of causality is located in the Reported Adverse Events module.Up to 33 days after the last infusion of study drug (up to approximately 149 weeks)False723FalseFalseFalseFalse NCT03439670VBP15-004ReveraGen BioPharma, Inc.INDUSTRYA Study to Assess the Efficacy and Safety of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)2023-03COMPLETEDBrief Summary: This Phase IIb study is a randomized, double-blind, parallel group, placebo and active-controlled study to evaluate the efficacy, safety, PD, and population PK of vamorolone administered orally at daily doses of 2.0 mg/kg and 6.0 mg/kg versus prednisone 0.75 mg/kg/day and placebo over a Treatment Period of 24 weeks, and to evaluate persistence of effect over a Treatment Period of 48 weeks in ambulant boys ages 4 to \<7 years with DMD.INTERVENTIONALInclusion Criteria: 1. Subject's parent(s) or legal guardian(s) has (have) provided written informed consent and Health Insurance Portability and Accountability Act (HIPAA) authorization, where applicable, prior to any study-related procedures; participants will be asked to give written or verbal assent according to local requirements 2. Subject has a centrally confirmed (by TRiNDS central genetic counselor\[s\]) diagnosis of DMD as defined as: * Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD, OR * Identifiable mutation within the DMD gene (deletion/duplication of one or more exons), where reading frame can be predicted as 'out-of-frame,' and clinical picture consistent with typical DMD, OR * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein (i.e., nonsense mutation, deletion/duplication leading to a downstream stop codon), with a clinical picture consistent with typical DMD; 3. Subject is ≥ 4 years and \<7 years of age at time of enrollment in the study; 4. Subject weighs \>13.0 kg and ≤ 39.9 kg at the Screening Visit; 5. Subject is able to walk independently without assistive devices; 6. Subject is able to complete the Time to Stand Test (TTSTAND) without assistance in \<10 seconds, as assessed at the Screening Visit; 7. Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant, in the opinion of the Investigator. \[Notes: Serum gamma glutamyl transferase (GGT), creatinine, and total bilirubin all must be ≤ upper limit of the normal range at the Screening Visit. An abnormal vitamin D level that is considered clinically significant will not exclude a subject from randomization\]; 8. Subject has evidence of chicken pox immunity as determined by: * Presence of IgG antibodies to varicella, as documented by a positive test result from the local laboratory from blood collected during the Screening Period, OR * Documentation, provided at the Screening Visit, that the subject has had 2 doses of varicella vaccine, with or without serologic evidence of immunity; the second of the 2 immunizations must have been given at least 14 days prior to randomization. 9. Subject is able to swallow tablets, as confirmed by successful test swallowing of placebo tablets during the Screening Period; and 10. Subject and parent(s)/guardian(s) are willing and able to comply with scheduled visits, study drug administration plan, and study procedures. Exclusion Criteria: 1. Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; 2. Subject has current or history of chronic systemic fungal or viral infections; 3. Subject has had an acute illness within 4 weeks prior to the first dose of study medication; 4. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study medication; 5. Subject has a history of primary hyperaldosteronism; 6. Subject has evidence of symptomatic cardiomyopathy \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; 7. Subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 1 month cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis, unless discontinued for intolerance. Inhaled and/or topical glucocorticoids are permitted if last use is at least 4 weeks prior to first dose of study medication or if administered at stable dose beginning at least 4 weeks prior to first dose of study medication and anticipated to be used at the stable dose regimen for the duration of the study\]; 8. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents; 9. Subject has used idebenone within 4 weeks prior to the first dose of study medication; 10. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 11. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; 12. Subject is taking (or has taken within 4 weeks prior to the first dose of study medication) herbal remedies and supplements which can impact muscle strength and function (e.g., Co-enzyme Q10, creatine, etc); 13. Subject is taking (or has taken within 3 months prior to the first dose of study medication) any medication indicated for DMD, including Exondys51 and Translarna; 14. Subject has been administered a live attenuated vaccine within 14 days prior to the first dose of study medication; 15. Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study medication; 16. Subject has a sibling who is currently enrolled in any vamorolone study or Expanded Access Program, or who intends to enroll in any vamorolone study or Expanded Access Program during the subject's participation in the VBP15-004 study; or 17. Subject has previously been enrolled in the study. Note: Any parameter/test may be repeated at the Investigator's discretion during Screening to determine reproducibility. In addition, subjects may be rescreened if ineligible due to a transient condition which would prevent the subject from participating, such as an upper respiratory tract infection or injury, or if ineligible due to negative anti-varicella IgG antibody test result.MALE2024-10-18T00:00:002018-01-092018-02-132023-03-072018-02-202023-03-092018-06-292021-02-232021-08-19trueTrueFalseBrief Summary: This Phase IIb study is a randomized, double-blind, parallel group, placebo and active-controlled study to evaluate the efficacy, safety, PD, and population PK of vamorolone administered orally at daily doses of 2.0 mg/kg and 6.0 mg/kg versus prednisone 0.75 mg/kg/day and placebo over a Treatment Period of 24 weeks, and to evaluate persistence of effect over a Treatment Period of 48 weeks in ambulant boys ages 4 to \<7 years with DMD.Duchenne Muscular DystrophyPHASE2121Efficacy Measured by Time to Stand Test (TTSTAND) Velocity in Rises/Second Change From BaselineVamorolone at 6.0mg/kg/day vs. placebo group in change from baseline to the Week 24 assessment24 weeksFalse47TrueFalseTrueFalse NCT01197300CZOL446H2337E1NovartisINDUSTRY1 Year Open-label Extension to CZOL446H2337 Safety and Efficacy Trial of Zoledronic Acid Twice Yearly in Osteoporotic Children Treated With Glucocorticoids2019-08COMPLETEDThis 1-year open-label extension to CZOL446H2337 is designed to evaluate the safety and efficacy of zoledronic acid twice yearly in osteoporotic children treated with glucocorticoids.INTERVENTIONALKey Inclusion criteria: Written informed consent before any study-related procedure. Group 1: 1. Children and adolescents, male or female, 6-19 years old, who met the inclusion criteria for entry into the Core study and who took at least one dose of study drug and have completed Visit 8 of the CZOL446H2337 Core study. 2. Patient must be enrolled into the extension at Visit 9 up to 10 months after Visit 5 (month 6) of the Core study. 3. Patients who followed the regimen of calcium and vitamin D intake as required in the Core study through diet or supplementation. Group 2: 1. Children and adolescents, male or female, 5 - 17 years old who met the inclusion criteria for entry into the Core study but were not enrolled because of clinically significant back pain from vertebral fracture and the preexisting clinical care at the Investigator site is to treat this type of patient with a bisphosphonate. 2. Confirmed diagnosis of non-malignant conditions (including but not limited to rheumatic conditions, inflammatory bowel disease, Duchenne muscular dystrophy, nephrotic syndrome), treated with systemic glucocorticoids (i.v. or oral) within the 12 months preceding enrollment in the study (any duration) 3. LS-BMD Z-score of -0.5 or worse confirmed by the central imaging vendor 4. Evidence of at least 1 vertebral compression fracture (at least Genant Grade 1 vertebral compression or radiographic signs of vertebral compression) confirmed by central reading OR At least one lower OR 2 upper extremity long-bone, low-trauma, fracture which occurred sometime within the 2 years or preceding enrollment in the study, confirmed by radiological report. (\*Low trauma fracture is defined as falling from standing height or less). Key Exclusion criteria: 1. Major protocol violation in the Core Study (Group 1 only). 2. Prior use of bisphosphonates (Group 2 only) or sodium fluoride (doses for osteoporosis not for dental hygiene). 3. Hypocalcemia and hypophosphatemia: any value (age-matched) below the normal range at Visit 8 or 8A. 4. Vitamin D deficiency (serum 25-hydroxy vitamin D concentrations of \< 20 ng/mL or \< 50 nmol/L) at Visit 8 (Group 1) or Visit 8A (Group 2). 5. Renal impairment defined as an estimated glomerular filtration rate (GFR) \< 60 mL/min/1.73 m2 at screening based on the Schwartz formula at Visit 8 or 8 A; a serum creatinine above the normal range at Visit 9 (Group 1) or an increase between Visit 8A and Visit 9 greater than 0.5 mg/dL (44.2 μmol/L) for Group 2. 6. Female patients of child bearing potential are eligible only if they are not pregnant/non-lactating. Females of child bearing potential must be practicing a medically acceptable form of birth control for greater than 2 months prior to screening visit and consent to pregnancy tests during the study.ALL2024-10-18T00:00:002010-09-072010-09-082019-08-192010-09-092019-09-202010-10-252019-02-272019-02-27trueFalseFalseThis 1-year open-label extension to CZOL446H2337 is designed to evaluate the safety and efficacy of zoledronic acid twice yearly in osteoporotic children treated with glucocorticoids.OsteoporosisPHASE325Long-term Safety of Zoledronic Acid for the Treatment of Osteoporotic Children Treated With Glucocorticoids.Analysis of absolute and relative frequencies for treatment emergent Adverse Event (AE), Serious Adverse Event (SAE) and Deaths by primary System Organ Class (SOC) to demonstrate that zoledronic acid given long-term, over an additional 12 months from the Core study (CZOL446H2337), is safe for the treatment of osteoporotic children treated with glucocorticoids through the monitoring of relevant clinical and laboratory safety parameters.Baseline 1 (Visit 1 of the Core Study) through Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Lumbar Spine Bone Mineral Density (BMD) Z-score at Month 18 and 24 by Core Treatment Group.Lumbar Spine Bone Mineral Density (BMD) Z-score was determined by the central imaging vendor at the final visit of Core study (Visit 8) or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension Study visit/EOS) of Extension study. The methods to be used to measure Lumbar Spine BMD Z-score were described in the respective DXA Manuals provided by central imaging vendor. Positive changes from Core baseline indicated an improvement in condition.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Lumbar Spine Bone Mineral Content (BMC) at Month 18 and 24 by Core Treatment Group.Lumbar Spine Bone Mineral Content (BMC) was determined by the central imaging vendor at the final visit of Core study (Visit 8) or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension Study visit/EOS) of Extension study. The methods to be used to measure BMC were described in the respective DXA Manuals. Positive changes from Core baseline indicated an improvement in condition.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Total Body BMC at Month 18 and 24 by Core Treatment Group.Total body BMC were determined by the central imaging vendor at the final visit of Core study (Visit 8) or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension Study visit/EOS) of Extension study. The methods to be used to measure BMC were described in the respective DXA Manuals. Positive changes from Core baseline indicated an improvement in condition.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Serum P1NP at Month 18 and 24 by Core Treatment Group.Serum Procollagen type 1 amino-terminal propeptide (P1NP) was collected at the final visit Core study at Visit 8, or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension study Visit/EOS) of Extension study according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory. Decrease or negative changes from Core baseline indicated a pharmacological response to therapy.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in BSAP at Month 18 and 24 by Core Treatment Group.Bone specific alkaline phosphatase (BSAP) was collected at the final visit Core study at Visit 8, or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension study Visit/EOS) of Extension study according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory. Decrease or negative changes from Core baseline indicated a pharmacological response to therapy.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Serum NTX at Month 18 and 24 by Core Treatment Group.Serum Cross linked N-telopeptide (NTX) was collected at the final visit Core study at Visit 8, or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension study Visit/EOS) of Extension study according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory. Decrease or negative changes from Core baseline indicated a pharmacological response to therapy.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Mean Change From Baseline 1 (Visit 1 of the Core Study) in Serum TRAP-5b at Month 18 and 24 by Core Treatment Group.Serum Tartrate-resistant acid phosphatase isoform 5b (TRAP 5b) were collected at the final visit Core study at Visit 8, or at 1st infusion visit (Visit 9), and thereafter at Visit 12 (Month 18) and Visit 15 (Month 24) (final Extension study Visit/EOS) of Extension study according to the instructions provided in the Laboratory Manual. The samples were analyzed in batches at the laboratory. Decrease or negative changes from Core baseline indicated a pharmacological response to therapy. Decrease or negative changes from Core baseline indicated a pharmacological response to therapy.Month 18 (Visit 12 of the Extension Study), Month 24 (Visit 15/Final Extension Visit)Number of Participants With New Vertebral Fractures During the 12 Month Extension Period by Core Treatment Group.New vertebral fractures are defined as fractures of Genant grade 1 or higher that occur at lumbar or thoracic spine from first extension dose infusion to the end of the study in a previously normal vertebra.Month 24 (Visit 15/Final Extension Visit)Number of Participants With New Morphometric Vertebral Fractures During the 12 Month Extension Period by Core Treatment Group.Vertebral morphometry (or concave index) was calculated using the average ratio between mid-height and posterior height from L1 to L4 and performed by a central reader. A new morphometric vertebral fractures during the 12 month Extension Period was defined as a morphometric vertebral fracture present at Month 24 X-ray which was not present at the Extension Baseline (Baseline 2).Month 24 (Visit 15/Final Extension Visit)Percentage of Patients With Reduction in Pain From Baseline 1 (Visit 1 of the Core Study) at Month 15, 18, 21 and 24 by Core Treatment Group.Pain was evaluated at each visit (at office and telephone visit) at the final visit of the Core study and first visit of the Extension study (Visit 9), Visits 11 (Month 15), 12 (Month 18), 14 (Month 21) and 15 (Month 24) using the Faces Pain Scale-Revised (FPS-R). Children were selecting the face that best fits their pain. The pain score ranged from 0 (No Pain) to 10 (Very Much Pain). The reduction in pain from Core baseline by visit was evaluated based on whether or not patients had a decrease in their FPS-R from baseline. If pain remained the same or worsened from baseline a patient was classified as '0' and if the pain scale decreased then the patient was classified as '1'.Month 15, Month 18, Month 21, Month 24Mean Change From Baseline (Core and Extension) in 2nd Metacarpal Cortical Width at Month 24 by Core Treatment Group.Left postero-anterior (PA) hand/wrist X-ray were taken at the final visit of Core study and at Visit 15/EOS (Month 24) to assess bone age. The change in 2nd metacarpal cortical width at Month 24 relative to the respective Baseline was calculated. If a fracture of the left upper extremity precluded radiographic imaging, (or precluded this X-ray in the Core study) then the right hand was evaluated for this purpose. In this case, an image of the right hand was carried out at both Visit 8 and at Visit 15/EOS (Month 24). The information was used in the assessment of bone density.Baseline 1 (Visit 1 of the Core Study) and Baseline 2 (Visit 9 of the Extension Study) through Month 24 (Visit 15/Final Extension Visit)False519FalseFalseFalseFalse NCT03400852MNK14112096MallinckrodtINDUSTRYA Study to Assess the Efficacy and Safety of MNK-1411 in Duchenne Muscular Dystrophy2021-02TERMINATEDThis is a multicenter, double blind, placebo controlled, multiple dose study to examine the safety and efficacy of MNK-1411 in male subjects 4 to 8 years of age (inclusive) with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: 1. Participants must have a documented diagnosis of Duchenne Muscular Dystrophy (DMD) confirmed by complete dystrophin deficiency (by immunofluorescence and/or immunoblot), or identifiable mutation in the DMD gene where reading frame can be predicated as "out of frame," or complete dystrophin gene sequencing consistent with DMD; AND in the opinion of the Investigator, a typical clinical profile consistent with DMD. 2. Participants taking approved treatments for DMD (by a Health Authority) that target dystrophin gene mutations (e.g., eteplirsen or ataluren) may be enrolled in the study if they have been on a stable dose for 30 days prior to the first dose of study drug, and plan to remain on that dose throughout the study. Exclusion Criteria: 1. Participant has had previous systemic treatment with corticosteroids within 2 months prior to the Screening Visit. Exception: In subjects who were down-titrated to a physiological dose of corticosteroids (ie, 3mg/m2 of prednisone or deflazacort) a maximum of 1 month of no greater than a physiological dose followed by 1 month completely off corticosteroids prior to the Screening Visit will be acceptable for study entry. Transient previous use of corticosteroids will be evaluated on a case-by-case basis by the sponsor or designee. The use of topical or intra-articular corticosteroids is permitted during the study 2. Participant is unable to complete the 10 meter Walk/Run test at the Screening and/or Baseline Visit. 3. Participant has Type 1 or Type 2 diabetes mellitus. 4. Participant has a history of chronic active hepatitis including acute or chronic hepatitis B, or acute or chronic hepatitis C. 5. Participant has a history of tuberculosis (TB) infection, any signs/symptoms of TB, or any close contact with an individual with an active TB infection. 6. Participant has known immune compromised status (not related to disease/condition under study), including but not limited to, individuals who have undergone organ transplantation or who are known to be positive for the human immunodeficiency virus.MALE2024-10-18T00:00:002018-01-092018-01-092021-02-192018-01-172021-03-162018-07-272020-02-252020-02-25trueTrueFalseThis is a multicenter, double blind, placebo controlled, multiple dose study to examine the safety and efficacy of MNK-1411 in male subjects 4 to 8 years of age (inclusive) with Duchenne Muscular Dystrophy (DMD).Muscular Dystrophy, DuchennePHASE244Time to Complete 10 Meter Walk/Run[10 Meter Walk/Run is a motor function test to measure the functional capability in patients with DMD.Baseline, Week 24North Star Ambulatory Assessment (NSAA) ScoreThe NSAA is comprised of 17 items, each of which is graded using the standard scorecard. Each assessment is rated as 0 - unable to achieve independently, 1 - modified method but achieves goal independent of physical assistance from another, or 2 - normal with no obvious modification of activity. The subscale scores are summed for a total score ranging from 0 to 34. The higher the total score, the better the outcome.Baseline, Week 24Time to Climb 4 Standardized StairsTime to Climb 4 Standardized Stairs is a motor performance testBaseline, Week 24Time to Stand From a Supine PositionTime to stand from a supine position is a motor function test to measure the functional capability in subjects with DMD.Baseline, Week 24Quantitative Muscle Testing Scores at BaselineQuantitative muscle testing measured strength-knee flexion and extension measured in Newtons, using a dynamometerBaselineQuantitative Muscle Testing Scores at Week 24Quantitative muscle testing measured strength-knee flexion and extension measured in Newtons, using a dynamometerWeek 24Summary of Adverse Events in the Blinded Treatment PeriodClinically significant changes in vital signs, height, weight, immunogenicity and laboratory assessments were reported as adverse events (AEs)within 28 weeksSummary of Adverse Events in the Open Label PeriodClinically significant changes in vital signs, height, weight, immunogenicity and laboratory assessments were reported as adverse events (AEs)within 28 weeksFalse48FalseFalseFalseFalse NCT04934800MS700568_0070Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, GermanyINDUSTRYProspective Effectiveness and Safety Study of Cladribine in Participants Who Change First-line DMD Treatments for Multiple Sclerosis (CLAD CROSS)2024-09COMPLETEDThe main aim is to study in the real world setting the effectiveness of Cladribine tablets in terms of Annualized Relapse Rate (ARR) and disability progression, in participants who switched from a first line Disease Modifying Drug (DMD) (Interferons, Glatiramer Acetate, Teriflunomide, (Dymethyl fumarate) \[DMF\]) to treatment with Cladribine tablets in routine clinical practice.OBSERVATIONALInclusion Criteria: * Participants with confirmed diagnosis of RRMS diagnosed by the treating physician according to applicable clinical practice guidelines -(currently McDonald 2017 criteria), with high disease activity * Participants should have been treated with the same first-line DMD (Interferons, Glatiramer Acetate, Teriflunomide, DMF) and at a stable dose for at least one year prior to switch to Cladribine tablets and should have been prescribed Cladribine tablets, according to the decision of the treating physician, prior to enrollment in the study. Any washout period and/or washout methods required before switching (such as elimination of Teriflunomide) must have been conducted, according to the decision of the treating physician * Required history data should be available: Multiple Sclerosis (MS) data for the 12-months pre-baseline period (annualized relapse rate); MS Medication History (prior DMDs) * Fulfilment of the criteria for treatment with Cladribine tablets per standard of care in accordance with the local Summary of Product Characteristics (SmPC) Exclusion Criteria: * Contraindications to use of cladribine tablets according to the SmPC * Participants with history of alcohol or drug abuse that could potentially interfere with their participation in the study * Participants that have received Cladribine in the past * Concurrent participation in an investigational study in which participant assessment and/or treatment may be dictated by a protocolALL2024-10-18T00:00:002021-06-172021-06-172024-09-162021-06-222024-09-192019-12-102024-05-202024-05-20falseThe main aim is to study in the real world setting the effectiveness of Cladribine tablets in terms of Annualized Relapse Rate (ARR) and disability progression, in participants who switched from a first line Disease Modifying Drug (DMD) (Interferons, Glatiramer Acetate, Teriflunomide, (Dymethyl fumarate) \[DMF\]) to treatment with Cladribine tablets in routine clinical practice.Multiple Sclerosis256Change in Annualized Relapse Rate (ARR) Between the Pre-Baseline 12-Month Period Over the 12 Months Period Before the End of Study Follow-Up12-months pre-baseline up to Year 2 post-baselineChange in Annualized Relapse Rate (ARR) Between the Pre-Baseline 12-Month Period Over the 12 Months Period After the Start of Cladribine12-months pre-baseline up to Year 1 post-baselinePercentage of Participants with 6-Month Disability Progression in Expanded Disability Status Scale (EDSS)Up to 2 yearsPercentage of Participants with 6-Month Disability Progression in Timed 25 Foot Walk (T25FW)Up to 2 yearsPercentage of Participants with 6-Month Disability Progression in 9-Hole-Peg Test (9HPT)Up to 2 yearsPercentage of Participants with 6-Month Disability Improvement in Expanded Disability Status Scale (EDSS)Up to 2 yearsPercentage of Participants with 6-Month Disability Improvement in Timed 25 Foot Walk (T25FW)Up to 2 yearsPercentage of Participants with 6-Month Disability Improvement in 9-Hole-Peg Test (9HPT)Up to 2 yearsNumber of Participants With Adverse Events (AEs) and Serious Adverse Events (SAEs)Up to 2 yearsQuality of Life Assessed by Multiple Sclerosis Impact Scale (MSIS-29)Baseline, Months 12 and 24Treatment Satisfaction Assessed by Treatment Satisfaction Questionnaire for Medication Version 1.4 (TSQM v1.4) ScaleMonths 6, 12, 18 and 24Pharmacoeconomic Data Assessed by Euro Quality of Life Scale (EuroQol) 5-Dimension-3 Level (EQ-5D-3L) QuestionnaireBaseline, Months 12 and 24Percentage of Participants With Treatment AdherenceUp to Month 24False18FalseFalseFalseFalse NCT02251600MP-104-CL-005PTC TherapeuticsINDUSTRYA Pharmacokinetic Study of Oral Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy2017-08COMPLETEDStudy to characterize the single-state and steady-state dosing of oral deflazacort in pediatric and adolescents subjects.INTERVENTIONALInclusion Criteria: * In the opinion of the investigator, the subject is capable of understanding and complying with protocol requirements. * The subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures. * If above the age of 7, the subject signs and dates a written, informed assent form (IAF) and any required privacy authorization prior to the initiation of any study procedures. * The subject must have confirmed diagnosis of Duchenne Muscular Dystrophy defined as muscle biopsy and dystrophin analyses consistent with DMD or DNA mutation and analysis by PCR or Southern blot techniques to detect gene deletions as well as: 1. onset of weakness before 5 years of age; 2. proximal muscle weakness; 3. increased serum creatine kinase more than 10 times the upper limit of normal (ULN); * The subject is male and aged 4 to 16 years, inclusive. * The subject weighs at least 13 kg and has a Body Mass Index (BMI) of ≤ 40. * Willingness and ability to comply with scheduled visits, oral drug administration, and study procedures including blood sample draws (total blood volume collected not to exceed 50 mL for the study duration or 25 mL on any single study day \[≤ 3 mL/kg\]) * The subject has a life expectancy of \>1 year. * Up to date on all childhood vaccinations, specifically varicella vaccine (chicken pox). * Baseline health is judged to be stable based on medical history, physical examination, laboratory profiles, vital signs, or ECGs at screening, as deemed by the Investigator. * Continuous non smoker who has not used nicotine containing products for at least 3 months prior to the first dose. * The subject is able to take tablets. Exclusion Criteria: * The subject has received any investigational compound and/or has participated in another clinical study within 90 days prior to study treatment with the exception of observational cohort studies or non-interventional studies. * The subject has received deflazacort within 30 days or previous discontinued deflazacort due to an intolerable reaction. * The subject is an immediate family member, study site employee, or is in a dependent relationship with a study site employee who is involved in the conduct of this study (e.g. spouse, parent, child, sibling) or may consent under duress. * Any significant finding on the Columbia suicide severity rating scale (C SSRS) for subjects (ages 12-16, inclusive), in the opinion of the PI, warrants exclusion from this study. * The subject has, in the judgment of the investigator, clinically significant abnormal clinical chemistry laboratory parameters that may affect safety at Screening. * The subject has, in the judgment of the investigator, a history or current medical condition that could affect safety including, but not limited to: 1. Major renal or hepatic impairment 2. Immunosuppression or other contraindications for corticosteroid treatment 3. History of chronic systemic fungal or viral infections 4. Diabetes mellitus 5. Idiopathic hypocalcuria 6. Symptomatic cardiomyopathy at screening * The subject has a history of hypersensitivity or allergic reaction to steroids or their formulations including, but not limited to lactose, sucrose, etc. * Inability to take tablets as assessed by site investigator. * Unable to refrain from or anticipates the use of: * Any medications at least 4 hours before and after dosing on PK Days 1 and 8. * Any vitamins, vitamins with minerals, and/or meal supplementation (e.g., Ensure, Boost, etc.) at least 4 hours before and after dosing on PK Days 1 and 8. * Any drug, including prescription and non prescription medications, and herbal remedies known to be significant inhibitors of CYP 3A4 enzymes and/or P gp for 14 days prior to the first dose of study drug and throughout the study. Appropriate sources will be consulted by the PI or designee to confirm lack of pharmacokinetic/pharmacodynamic interaction with study drug. Acetaminophen may be permitted during the study (doses to be based upon appropriate age/weight ranges. * Any drugs known to be significant inducers of CYP 3A4 enzymes and/or P gp for 28 days prior to the first dose of study drug and throughout the study. Appropriate sources will be consulted by the PI or designee to confirm lack of PK/pharmacodynamics interaction with study drug. * Subject is mentally or legally incapacitated or has significant emotional problems at the time of screening visit or expected during the conduct of the study. * History of any illness that, in the opinion of the PI, might confound the results of the study or poses an additional risk to the subject by their participation in the study. * Positive urine drug or alcohol results at screening or check in. * Positive urine cotinine at screening. * Positive results at screening for HIV, HBsAg, or HCV. * Hemoglobin level below the lower limit of normal at screening. * Donation of blood or significant blood loss within 56 days prior to the first dose of study drug.MALE2024-10-18T00:00:002014-09-222014-09-252017-08-152014-09-292017-08-182014-122015-102015-10falseStudy to characterize the single-state and steady-state dosing of oral deflazacort in pediatric and adolescents subjects.Duchenne Muscular DystrophyPHASE124The area under the plasma concentration time curve, from time 0 to the last measurable concentration non-zero, for single-state pharmacokinetics on Day 1 of deflazacort and 21-desacetyl-DFZ, the active metaboliteThe area under the plasma concentration time curve, from time 0 to the last measurable concentration non-zero, for single-state pharmacokinetics on Day 1 of deflazacort and 21-desacetyl-DFZ, the active metaboliteDay 1, Day 8The area under the plasma concentration versus time curve over the final dosing interval for steady state pharmacokinetics on Day 8 of deflazacort and 21-desacetyl-DFZ, the active metaboliteThe area under the plasma concentration versus time curve over the final dosing interval for steady state pharmacokinetics on Day 8 of deflazacort and 21-desacetyl-DFZ, the activeDay 8Number of participants with adverse events as a measure of safety and tolerabilityTo assess the safety and tolerability of single-dose and steady-state deflazacort in DMD subjects.Day 1-8False416FalseFalseFalseFalse NCT06093100231407Vanderbilt University Medical CenterOTHERWearable Technology to Evaluate Hyperglycemia and HRV in DMD - Longitudinal Aim2024-09RECRUITINGDuchenne Muscular Dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death. Heart failure is a leading cause of death in DMD, but substantial knowledge gaps exist regarding predisposing risk factors. In the general population, hyperglycemia, insulin resistance, and decreased heart rate variability (HRV; reflecting autonomic dysfunction) are associated with cardiomyopathy (CM). It is unclear whether these factors are associated with DMD-CM. Closing this knowledge gap may lead to novel screening and therapeutic strategies to delay progression of DMD related CM. Despite risk factors for hyperglycemia, including the use of glucocorticoids, low muscle mass, obesity, and reduced ambulation, little is known regarding glucose abnormalities in DMD. Some of these same risk factors, along with the distance needed to travel for specialty care, present significant barriers to research participation and clinical care for individuals with DMD. Remote wearable technology may improve research participation in this vulnerable population. Therefore, this study will leverage remote wearable technologies to overcome these barriers and define the relationship between dysglycemia and DMD-CM. In this Aim of the study, the investigators will assess the utility of remote wearable technology to predict changes in traditional metrics of metabolism and cardiac function. In this pilot study, 10 individuals with DMD will undergo cardiac magnetic resonance imaging (CMR) and oral glucose tolerance tests (OGTTs) at baseline and two years. The investigators will remotely assess glycemia (using continuous glucose monitors), HRV (using extended Holter monitors), and activity (using accelerometers) every 6 months over the 2 years and evaluate if changes in wearable metrics predict changes in CMR and OGTT.OBSERVATIONALInclusion and Exclusion Criteria: Inclusion criteria * Male- ≥10 years * Clinical phenotype of DMD confirmed with muscle biopsy or genotype. * Informed consent for individuals ≥18 years * Parent/guardian informed consent and child assent for individuals \< 18 years * Able to undergo non-sedated CMR Exclusion Criteria * Refusal to participate * Diagnosis of diabetes prior to the study and/or taking insulin or other anti-diabetic drug therapy in \< 4 weeks prior to treatment * Inability to fast for 10 hours * Use of a pacemaker, implantable cardioverter-defibrillator (ICD), or other implanted device * Unable to comply with study procedures, in the opinion of the investigator.MALE2024-10-18T00:00:002023-10-102023-10-162024-09-122023-10-232024-09-192024-07-102029-122030-12falseFalseFalseDuchenne Muscular Dystrophy (DMD) is an X-linked disorder that causes muscle wasting, cardiopulmonary failure, and premature death. Heart failure is a leading cause of death in DMD, but substantial knowledge gaps exist regarding predisposing risk factors. In the general population, hyperglycemia, insulin resistance, and decreased heart rate variability (HRV; reflecting autonomic dysfunction) are associated with cardiomyopathy (CM). It is unclear whether these factors are associated with DMD-CM. Closing this knowledge gap may lead to novel screening and therapeutic strategies to delay progression of DMD related CM. Despite risk factors for hyperglycemia, including the use of glucocorticoids, low muscle mass, obesity, and reduced ambulation, little is known regarding glucose abnormalities in DMD. Some of these same risk factors, along with the distance needed to travel for specialty care, present significant barriers to research participation and clinical care for individuals with DMD. Remote wearable technology may improve research participation in this vulnerable population. Therefore, this study will leverage remote wearable technologies to overcome these barriers and define the relationship between dysglycemia and DMD-CM. In this Aim of the study, the investigators will assess the utility of remote wearable technology to predict changes in traditional metrics of metabolism and cardiac function. In this pilot study, 10 individuals with DMD will undergo cardiac magnetic resonance imaging (CMR) and oral glucose tolerance tests (OGTTs) at baseline and two years. The investigators will remotely assess glycemia (using continuous glucose monitors), HRV (using extended Holter monitors), and activity (using accelerometers) every 6 months over the 2 years and evaluate if changes in wearable metrics predict changes in CMR and OGTT.Duchenne Muscular Dystrophy10Rate of hyperglycemianumber of glucose measurements ≥140mg/dL over total number of glucoses5 time points, each over 10 daysStandard deviation of the mean R-to-R segment (SDANN)correlation of rate of hyperglycemia and SDANN, which reflects heart rate variability5 time points, each over 7 daysCoefficient of variation on CGMvariability of glucose levels on CGM measured by coefficient of variation (COV)5 time points, each over 10 daysRate of significant hyperglycemianumber of glucose measurements ≥200mg/dL over total number of glucoses5 time points, each over 10 daysActivity levelTime spent in sedentary, low intensity, and moderate to vigorous physical activity5 time points, each over 7 daysStandard deviation of normal R to R intervals (SDNN)correlation of rate of hyperglycemia and SDNN5 time points, each over 7 daysLate gadolinium enhancement (LGE)correlation of change in SDANN from 0 to 24 months with change in percent LVEF on cardiac MRI from 0 to 24 months2 time points: initially and approximately 2 years laterLeft ventricular ejection fraction (LVEF)correlation of change in SDANN from 0 to 24 months with change in percent LVEF on cardiac MRI from 0 to 24 months2 time points: initially and approximately 2 years laterInsulin sensitivitycorrelation between change in rate of hyperglycemia from 0 to 24 months (CGM) with change in insulin sensitivity from 0 to 24 months (oral glucose tolerance test)2 time points: initially and approximately 2 years laterFalse10FalseFalseFalseFalse NCT065798596906Fondazione Policlinico Universitario Agostino Gemelli IRCCSOTHERDevelopment of a Registry to Assess Natural History in Duchenne Muscular Dystrophy2024-08NOT_YET_RECRUITINGDuchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.OBSERVATIONALInclusion Criteria: * patient with genetic confirmation od Duchenne Muscular Dystrophy in follow up in one of the 4 involved centers * signed informed consent form Exclusion Criteria: * patients who refuses consentMALE2024-10-18T00:00:002024-08-282024-08-282024-08-282024-08-302024-08-302024-11-012025-12-012026-11-01FalseFalseDuchenne muscular dystrophy is a rare progressive X-linked neuromuscular disease, caused by mutation in the dystrophin gene, leading to progressive muscle degeneration, loss of specific functional milestones, severe respiratory and cardiac impairment. Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of the disease, affecting both survival and the time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutical approaches based on mechanisms targeting specific type of mutation; therefore, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. The aim of this project is to better define the natural history of Duchenne musculare Dystrophy patients and to understand clinical and motor functional trajectories defining a more specific genotype/phenotype characterization according to the type of mutation.Duchenne Muscular Dystrophy200integrate existing datasetsTo integrate the existing datasets including 3 year follow up data of ambulant Duchenne patients with new patients having at least 3 year follow up and with further follow up achieved after the study was completed. The dataset will also include data on non ambulant patients3 yearsDevelop structurate Case Report FormTo develop a structured electronic Case Report Form that will include all the functional data such as 6 Minute Walking Test ( no scaled) , North Star Ambulatory Assesment ( scale 0-34), timed items ( not scaled) , Performance Upper Limb (0-42) collected as part of the clinical routine and other clinical and genetic variables routinely collected and available from clinical notes. To transfer the existing data to the newly developed Case report form3 yearsanalyse clinical dataTo analyse 3 years data follow up in the original cohort and in all those who have more than 3 year follow up In patients who lost ambulation during the study, their retrospective functional data will be analysed looking for possible prognostic indicators at one, two and three years before loss of ambulation3 yearsFalseFalseFalseFalseFalse NCT0383630018-2079RTI InternationalOTHERParent and Infant Inter(X)Action Intervention (PIXI)2024-04ENROLLING_BY_INVITATIONThe objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.INTERVENTIONALInclusion Criteria: * Infants 15 months of age or younger who have received a diagnosis which was not sought solely due to parental concerns about the infant (e.g. diagnosis due to prenatal or newborn screening, cascade testing following diagnosis of a family member). * English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English. Exclusion Criteria: - Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.ALL2024-10-18T00:00:002019-02-072019-02-072024-04-292019-02-112024-05-012018-11-302024-12-312025-06-30falseFalseFalseThe objective is to develop and test, through an iterative process, an intervention to address and support the development of infants with a confirmed diagnosis of a neurogenetic disorder with associated developmental delays or intellectual and developmental disabilities. The proposed project will capitalize and expand upon existing empirically based interventions designed to improve outcomes for infants with suspected developmental delays. Participants will be infants with a confirmed diagnosis of a neurogenetic disorder (e.g., fragile X, Angelman, Prader-Willi, Dup15q, Phelan-McDermid, Rhett, Smith Magenis, Williams, Turner, Kleinfelter, Down syndromes, Duchenne muscular dystrophy) within the first year of life and their parents/caregivers. The intervention, called the Parent and Infant Inter(X)action Intervention (PIXI) is a comprehensive program inclusive of parent education about early infant development and the neurogenetic disorder for which they were diagnosed, direct parent coaching around parent-child interaction, and family/parent well-being support. The protocol includes repeated comprehensive assessments of family and child functioning, along with an examination of feasibility and acceptability of the program.Fragile X Syndrome;Angelman Syndrome;Prader-Willi Syndrome;Dup15Q Syndrome;Duchenne Muscular Dystrophy;Phelan-McDermid Syndrome;Rett Syndrome;Smith Magenis Syndrome;Williams Syndrome;Turner Syndrome;Klinefelter Syndrome;Chromosome 22q11.2 Deletion Syndrome;Tuberous Sclerosis;Down SyndromeNA120Social Validity and AcceptabilityA social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention.Completion of Phase 1 (approximately six months of age)Social Validity and AcceptabilityA social validity measure will be completed to better understand to inquire about family satisfaction with aspects of the intervention including curriculum, timing, goals targeted, and perceived effects of the intervention. Qualitative interviewing will be also be conducted to examine parent perceptions of feasibility and acceptability.Completion of Phase 2 (approximately twelve months of age)FidelityOverall intervention fidelity will be measured by determining if the following goals were achieved: Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2Completion of Phase 1 (approximately six months of age)FidelityOverall intervention fidelity will be measured by determining if the following goals were achieved: Enrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2Completion of Phase 2 (approximately twelve months of age)Parent Implementation and EngagementInternal parent implementation and engagement forms will be used to measure parent participation across both intervention phases. These components include parent readiness for the session, attention to materials, participation in topic discussion, appropriateness of intervention activity practice, and general presentation with their child.Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)Early Developmental OutcomesDescriptive statistics around early learning, motor, communication skills, interpersonal, and adaptive skills in the sample will be derived from the Vineland Adaptive Behavior Scales, Third Edition: Parent/Caregiver Report (Vineland-3). Subdomain v-Scaled scores range from 1-24 with higher numbers indicating greater performance; while domain scores are presented in standard score formats with a range of 20-140 with higher scores indicating greater performance.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)Autism SymptomsA combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Communication and Symbolic Behavior Scale (CSBS). The parent report developmental profile is a standardized measure is completed to evaluate language and social communication predictors. A total of 57 points are available with age corresponding cutoff scores for clinical concern.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)Autism SymptomsA combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Modified Checklist for Autism in Toddlers (MCHAT). The Modified Checklist for Autism in Toddlers is a scientifically validated tool for screening children between 16 and 30 months of age that assesses risk for autism spectrum disorder (ASD).Scores range from 0-20 with corresponding ranges for cutoff scores warranting further follow-up.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)Autism SymptomsA combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Autism Diagnostic Observation Schedule, Second Edition (ADOS-2). The ADOS-2 is a semi-structured, standardized assessment of communication, social interaction, play, and restricted and repetitive behaviors. It is directly administered to the participant and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)Autism SymptomsA combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the TELE-ASD-PEDS. The TELE-ASD-PEDS was developed by researchers at Vanderbilt University to assess remotely autism symptomology. The TELE-ASD-PEDS measures communication, social interaction, play, and restricted and repetitive behaviors. It is administered via telehealth and behaviors are scored. Total scores range based on age of participant/module administered. Scores are calculated and compared against cutoff scores for autism spectrum and autism.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)Autism SymptomsA combination of measures will be used across study engagement to assess parent reported autism symptomology. These measures include the Repetitive Behavior Scales (RBS). The RBS-EC is a questionnaire measure of restricted and repetitive behaviors designed for use in children from infancy through early school age. It is intended to capture individual differences across a broad range of behaviors associated with the repetitive behavior domain. Total scores range from 0-136 with a higher score indicating greater need/presence of behaviors.Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)True99FalseFalseFalseFalse NCT02847975Pro00033300Cedars-Sinai Medical CenterOTHERSodium Nitrate to Improve Blood Flow2018-08COMPLETEDInvestigators recently showed that tadalafil restores functional sympatholysis in patients with Becker muscular dystrophy (BMD). If tadalafil restores functional sympatholysis in BMD via the NO-cyclic guanosine monophosphate pathway, then functional sympatholysis should also be restored by sodium nitrite- which is an indirect nitric oxide donor.INTERVENTIONALInclusion Criteria: * Becker muscular dystrophy * age 15-55 years of age * ambulatory Exclusion Criteria: * hypertension, diabetes, or heart failure by standard clinical criteria * elevated brain natriuretic peptide level (\>100 pg/ml) * Left ventricular ejection fraction \< 50% * cardiac rhythm disorder, specifically: rhythm other than sinus, supraventricular tachycardia, atrial fibrillation, ventricular tachycardia, heart block * continuous ventilatory support * liver disease * renal impairment * history of asthma or bronchospasm * use of any medications other than common supplements * unable to perform handgrip exerciseMALE2024-10-18T00:00:002014-04-302016-07-252018-08-022016-07-282018-08-062013-102014-122014-12falseFalseFalseInvestigators recently showed that tadalafil restores functional sympatholysis in patients with Becker muscular dystrophy (BMD). If tadalafil restores functional sympatholysis in BMD via the NO-cyclic guanosine monophosphate pathway, then functional sympatholysis should also be restored by sodium nitrite- which is an indirect nitric oxide donor.Becker Muscular DystrophyPHASE111change in muscle tissue oxygenationThe pre-specified primary outcome is the pre vs. post treatment change in functional sympatholysis measured by muscle oxygenation.change from baseline to post treatment (3-4 hours)True1555FalseFalseFalseFalse NCT01557400PTC124-GD-019-DMDPTC TherapeuticsINDUSTRYStudy of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada2020-11COMPLETEDDuchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study comprises a Phase 3, open-label study of ataluren in participants with nmDBMD who previously received ataluren at an Investigator site in a prior PTC-sponsored clinical study. A separate open-label study (PTC124-GD-016-DMD; NCT01247207) is being conducted for nmDBMD participants who previously received ataluren at an Investigator site in the United States (US).INTERVENTIONALInclusion Criteria: 1. Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethics Committee (IRB/IEC) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed. 2. History of exposure to ataluren in a prior PTC study in nmDBMD. Note: Participants are considered eligible only if they received ataluren during their participation in 1 or more prior PTC-sponsored studies of ataluren in nmDBMD. Note: Participants who have participated in a prior or ongoing PTC study with ataluren in nmDBMD at a trial site in the US or Canada, but reside outside of the US and Canada, may be eligible for this study (with the approval of the PTC Therapeutics Medical Monitor). 3. Male sex. 4. In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 6-week follow-up period. 5. Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation should be considered. Exclusion Criteria: 1. Exposure to another investigational drug within 1 month prior to start of study treatment. 2. Eligibility for another ataluren clinical trial that is actively enrolling study participants. 3. Known hypersensitivity to any of the ingredients or excipients of ataluren (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], magnesium stearate). 4. Ongoing use of the following medications: 1. Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel. 2. Systemic aminoglycoside therapy 5. Ongoing uncontrolled medical/surgical condition, electrocardiogram (ECG) findings, or laboratory abnormality that, in the Investigator's opinion, could adversely affect the safety of the participant or make it unlikely that follow-up would be completed.MALE2024-10-18T00:00:002012-03-152012-03-152020-11-032012-03-192020-11-252012-05-202018-01-192018-01-19falseDuchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study comprises a Phase 3, open-label study of ataluren in participants with nmDBMD who previously received ataluren at an Investigator site in a prior PTC-sponsored clinical study. A separate open-label study (PTC124-GD-016-DMD; NCT01247207) is being conducted for nmDBMD participants who previously received ataluren at an Investigator site in the United States (US).Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;DystrophinopathyPHASE394Number of Participants With Treatment Emergent Adverse Events (TEAEs)A TEAE is any untoward medical occurrence or undesirable event(s) experienced in a participant that begins or worsens following administration of the study drug or study treatment, whether or not considered related to the treatment by the Investigator. A serious adverse event (SAE) was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying), or persistent or significant disability/incapacity not related to nmDBMD. AEs included both SAEs and non-serious AEs. AEs were classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 (CTCAE) and coded using the Medical Dictionary for Regulatory Activities (MedDRA). A summary of serious and all other non-serious adverse events, regardless of causality, is located in the Reported Adverse Events module.Baseline up to Week 246Change From Baseline in 6MWD as Measured by the 6MWTThe 6MWD was assessed in participants who were ambulatory using standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.Baseline, Weeks 48, 96, 144, 192, and 240Change From Baseline in Physical Function as Measured by the NSAAThe NSAA was used to evaluate physical function in participants who were ambulatory at study entry, using standardized procedures. The NSAA consisted of 17 activities, each scored as 0 (activity could not be performed), 1 (modified method but achieved goal without physical assistance from another), or 2 (normal, achieved goal without assistance). The sum of these 17 scores was used to form a total score. If fewer than 13 of the 17 activities were performed, the total score was considered missing. If 13 to 16 activities were performed, the total score was calculated by multiplying the sum of the scores in the x activities that were performed by 17/x. If an activity could not be performed due to disease progression/loss of ambulation, a score of 0 was assigned. The linear score was the linear transformation of the NSAA score to a scale of 0 (worst) to 100 (best).Baseline, Weeks 48, 96, 144, 192, and 240Change From Baseline in Time to Stand From Supine PositionTime to stand from the supine position to a standing position was assessed in ambulatory participants. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used.Baseline, Weeks 48, 96, 144, 192, and 240Change From Baseline in Time to Walk/Run 10 MetersTime to walk/run 10 meters was measured in ambulatory participants. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used.Baseline, Weeks 48, 96, 144, 192, and 240Change From Baseline in Pulmonary Function as Measured by SpirometryPulmonary function parameters of %-predicated FVC, percent-predicted FEV1 (adjusted using ulna length and age), PEF, and PCF was assessed in non-ambulatory participants by using a spirometer. Due to the difficulty in obtaining an accurate standing height measurement in non-ambulatory participants, ulna length and arm span were used as a surrogate measure for height when calculating percent-predicted FVC.Baseline, Weeks 48, 96, 144, 192, and 240Change From Baseline in Participant and Parent/Caregiver-Reported ADL, as Measured by the EK ScaleActivities of daily living after loss of ambulation were measured using the EK scale. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move arms, 6) ability to use hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performs the tasks of daily life (as described by Categories 1 to 9) and how he perceives his wellbeing (as described by Category 10). The interviewer observed the participant and assigned the final score for the tasks that could be observed in the clinic.Baseline, Weeks 48, 96, 144, 192, and 240FalseFalseFalseFalseFalse NCT02090959PTC124-GD-020e-DMDPTC TherapeuticsINDUSTRYAn Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy2020-08TERMINATEDThe primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren \[PTC124-GD-020-DMD {NCT01826487}\]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.INTERVENTIONALInclusion Criteria: * Completion of study treatment in the previous Phase 3, double-blind study (PTC124-GD-020-DMD). * Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethic Committee (IRB/IEC) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed. * In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the period of study drug administration and 6-week follow-up period. * Willingness and ability to comply with scheduled visits, ataluren administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: * Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], and magnesium stearate). * Ongoing participation in any other therapeutic clinical trial. * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002014-03-172014-03-172020-08-102014-03-192020-08-112014-03-202018-06-122018-06-12trueThe primary objective of this study is to obtain long term safety data of ataluren in male participants with nonsense mutation dystrophinopathy (who participated and completed a previous Phase 3 study of ataluren \[PTC124-GD-020-DMD {NCT01826487}\]) to augment the overall safety database. Screening and baseline procedures are structured to avoid a gap in treatment between the double-blind study (PTC124-GD-020-DMD) and this extension study. This study may be further extended by amendment until either ataluren becomes commercially available or the clinical development of ataluren in duchenne muscular dystrophy (DMD) is discontinued.Muscular Dystrophy, Duchenne;Muscular Dystrophies;Muscular Disorders, Atrophic;Muscular Diseases;Musculoskeletal Diseases;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, X-Linked;Genetic Diseases, InbornPHASE3219Number of Participants With Treatment-Emergent Adverse Events (TEAEs)An adverse event (AE): any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Severity of AEs: graded per Common Terminology Criteria for AEs (CTCAE), Version 3.0 as Grade 1 (mild), 2 (moderate), 3 (severe), 4 (life-threatening), 5 (death). Drug-related AEs: AEs with possible, probable, unlikely relationship, or unrelated to study drug. Serious AEs (SAEs): death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized participant and required medical intervention. TEAE: an AE that occurred or worsened in the period extending from first dose of study drug in this study to 6 weeks after last dose of study drug in this study. A summary of other non-serious AEs and all SAEs, regardless of causality is located in Reported AE section.Baseline (Day 1) up to 6 weeks post-treatment (Week 150)Number of Participants With Abnormalities in Clinical Laboratory ParametersAbnormalities in laboratory variables as pre-defined in protocol for safety-monitoring were: Hepatic (Serum alanine aminotransferase \[ALT\]: increase of greater than \[\>\] 150 units/liter \[U/L\] with stable or decrease of creatinine kinese \[CK\]; Serum glutamyl amino transferase \[GGT\] \[U/L\]: Grade 2 \[\>2.5 - 5.0 \* upper limit of normal {ULN}\]), renal (Serum cystatin C miiligrams/liter \[mg/L\] \>1.33 - 2.00 mg/L; Serum blood urea nitrogen \[UREAN\] \[millimoles/liter {mmol/L}\] greater than or equal to \[≥\]1.5 - 3.0 \* ULN; Urine occult blood: 2+ \[Small\], 3+ \[Moderate\], 4+ \[Large\]), and electrolytes (Serum sodium: low \[mmol/L\], Grade 3-4 \[less than {\<}130 mmol/L\]; serum potassium: high \[mmol/L\], Grade 3-4 \[\>6.0 mmol/L\]; and Serum bicarbonate \[mmol/L\]: Grade 2 \[\<16 - 11 mmol/L\]).Baseline (Day 1) up to 6 weeks post-treatment (Week 150)Change From Baseline in 6MWD at Week 144The 6MWD test was performed in a 30 meters long flat corridor, where the participant was instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.Baseline, Week 144Change From Baseline in Time to Stand From Supine Position at Week 144If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.Baseline, Week 144Change From Baseline in Time to Walk/Run 10 Meters at Week 144If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.Baseline, Week 144Change From Baseline in Time to Climb 4 Stairs at Week 144If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.Baseline, Week 144Change From Baseline in Time to Descend 4 Stairs at Week 144If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used.Baseline, Week 144Change From Baseline in Physical Function Total Score as Measured by NSAA at Week 144Physical function was assessed via the NSAA, a functional scale specifically designed for ambulant Duchenne muscular dystrophy (DMD) participants. The assessment comprised tests for 17 abilities of a participant, such as ability to stand, rise from the floor, get from lying to sitting, get from sitting to standing, raise one's head, stand on one's heels, hop, jump, and run. For each activity, a score of 0, 1, or 2 was recorded, with 0 = "unable to achieve independently," 1 = "modified method but achieves goal independent of physical assistance from another," or 2 = "normal- achieves goal without any assistance." The sum of these scores (except for 'raise one's head' activity score) was reported as the ordinal total score, which was transformed to a linear total score ranging from 0 (worst) to 100 (best). Participants with confirmed loss of ambulation at a particular visit were assigned a score of 0.Baseline, Week 144Change From Baseline in PUL Total Score at Week 144The PUL was used to assess motor performance of the upper limb. The PUL scale includes 22 items; an entry item defining the starting functional level, and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal level (8 items) dimensions. Scoring options per item may not be uniform and may vary from 0-1 and 0-6, according to the performance, with higher values corresponding to better performance. Each dimension was scored separately with a maximum score of 16 for shoulder level, 34 for elbow level, and 24 for distal level. Total score was calculated by adding the 3 level scores, with a maximum global score of 74 (total score range = 0-74). Higher score = better outcome.Baseline, Week 144Change From Baseline in Percent Predicted FVC as Measured by Spirometry at Week 144FVC is a standard pulmonary function test. FVC was defined as the volume of air that can forcibly be blown out after full inspiration in the upright position, measured in liters. Percent predicted FVC (in %) = \[(observed FVC)/(predicted FVC)\]\*100.Baseline, Week 144Change From Baseline in Percent Predicted FEV1 as Measured by Spirometry at Week 144FEV1 is a standard pulmonary function test. FEV1 was defined as the volume of air that can forcibly be blown out in 1 second, after full inspiration in the upright position, measured in liters. Percent predicted FEV1 (in %) = \[(observed FEV1)/(predicted FEV1)\]\*100.Baseline, Week 144Change From Baseline in PEF as Measured by Spirometry at Week 144PEF was defined as the maximum airflow during a forced expiration beginning with the lungs fully inflated.Baseline, Week 144Change From Baseline in PCF as Measured by Spirometry at Week 144PCF measures an individual's maximum speed of expiration during cough.Baseline, Week 144Change From Baseline in PODCI Transfers/Basic Mobility Score at Week 144Changes in health-related quality of life (HRQL) were measured via the PODCI questionnaire that has been shown to correlate with disease progression and clinical outcome measures in DMD. PODCI includes a Global Functioning Scale and 5 core scales: Upper Extremity and Physical Function,Transfer/Basic Mobility, Sports/Physical Functioning, Pain/Comfort,and Happiness. The following PODCI domain was prespecified in the protocol for analysis:Transfers/Basic Mobility domain assesses difficulty experienced in performing routine motor activities in daily life. Each domain was scored from 0 to 100, with 0 representing a poor outcome/worse health, while 100 representing the highest level of functioning and least pain.Baseline, Week 144Number of Participants With Change From Baseline in Activities of Daily Living and Disease Status at Week 144, as Assessed by a Standardized Survey Administered by Site PersonnelChanges in activities of daily living and disease symptoms were captured via a DMD-specific survey administered by Site personnel. At screening or baseline, the participant and/or parent/caregiver were asked to identify any activities of daily living (for example, ambulation, balance, personal hygiene/grooming, dressing and undressing, self-feeding, using the bathroom, handwriting, school performance, behavior or energy level) or symptoms that were affected by the participant's DMD. At post-baseline visit (Week 144), the same participant and/or parent/caregiver was asked to describe any changes from baseline in those activities of daily living/symptoms, within the following categories: physical functioning; general energy level; cognition/school function; emotional/social functioning; and sleep. Changes from baseline were reported on a 5-point Likert scale: 1 (much better), 2 (slightly better), 3 (unchanged), 4 (slightly worse), or 5 (much worse).Baseline, Week 144Ataluren Plasma ConcentrationPre-dose ataluren plasma concentrations prior to morning ataluren administration at each clinic visit was assessed using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC/MS-MS) method.Pre-dose at Weeks 12, 24, 36, 48, 60, 72, 84, 96, 108, 120, 132, and 144Change From Baseline in Systolic and Diastolic Blood Pressure at Week 144Blood pressure determination was performed with the participant in a sitting position after a 5-minute rest.Baseline, Week 144Change From Baseline in Pulse Rate at Week 144Pulse rate determination was performed with the participant in a sitting position after a 5-minute rest.Baseline, Week 144Change From Baseline in Body Temperature at Week 144Baseline, Week 144False715FalseFalseFalseFalse NCT01981915OIC2013Universität Duisburg-EssenOTHEROptimum Insufflation Capacity in NMD2013-11COMPLETEDPatients with underlying neuromuscular disorder (NMD) often suffer from weakness in the inspiratory and expiratory muscles. Consequently they do not have the strength to generate the minimum flow of 160 to 300 liters/minute for an efficient cough function. The restricted cough function allows secretion to accumulate, which in turn causes narrowing of the airway lumen and makes ventilation of the neuromuscular patient even more difficult. The patient's susceptibility to infection increases again and the vicious circle repeats itself. Severe secretion retention may even lead to ventilator failure. Effective secretion and cough management instead reduces the risk for stay in hospital. Therefore, secretion and cough management is a mandatory part of the therapeutic concept for treating patients with neuromuscular disease. The therapeutic efficacy of the Lung Insufflation Assist Maneuver(LIA) integrated in the ventilator VENTIlogic LS-plus manufactured by Weinmann GmbH+Co KG was studied in a pilot study carried out by the Dep. for Pediatric Pulmonology and Sleep Medicine at the University Hospital of Essen/Germany in cooperation with Research \& Development at Weinmann GmbH \&Co KG, Germany . The objective of the pilot study was to examine the therapeutic efficacy of LIAM as a cough support function in patients with neuromuscular disease and indications for mechanical ventilation. We hypothesized that i) a certain insufflation maneuver pressure may be optimal to achieve the highest individual peak cough flow and ii) that this pressure is below the pressure needed to achieve the maximum insufflation capacity. We define the lowest insufflation capacity at which the best individual PCF can be achieved as optimum insufflation capacity (OIC). The study was performed using two different techniques in order to demonstrate that findings are not dependent on maneuver details but are rather based on effects of maneuver pressure. The protocol was limited to techniques which do not require breath stacking: i) insufflation with an Intermittend Positive Pressure (IPPB) device and ii) with the VENTIlogic LS using LIAM.INTERVENTIONALInclusion Criteria: * neuromuscular disorder * respiratory insufficiency * use of home mechanical ventilation Exclusion Criteria: * acute illness * history of pneumothoraxALL2024-10-18T00:00:002013-10-112013-11-052013-11-052013-11-132013-11-132011-012013-022013-03falsePatients with underlying neuromuscular disorder (NMD) often suffer from weakness in the inspiratory and expiratory muscles. Consequently they do not have the strength to generate the minimum flow of 160 to 300 liters/minute for an efficient cough function. The restricted cough function allows secretion to accumulate, which in turn causes narrowing of the airway lumen and makes ventilation of the neuromuscular patient even more difficult. The patient's susceptibility to infection increases again and the vicious circle repeats itself. Severe secretion retention may even lead to ventilator failure. Effective secretion and cough management instead reduces the risk for stay in hospital. Therefore, secretion and cough management is a mandatory part of the therapeutic concept for treating patients with neuromuscular disease. The therapeutic efficacy of the Lung Insufflation Assist Maneuver(LIA) integrated in the ventilator VENTIlogic LS-plus manufactured by Weinmann GmbH+Co KG was studied in a pilot study carried out by the Dep. for Pediatric Pulmonology and Sleep Medicine at the University Hospital of Essen/Germany in cooperation with Research \& Development at Weinmann GmbH \&Co KG, Germany . The objective of the pilot study was to examine the therapeutic efficacy of LIAM as a cough support function in patients with neuromuscular disease and indications for mechanical ventilation. We hypothesized that i) a certain insufflation maneuver pressure may be optimal to achieve the highest individual peak cough flow and ii) that this pressure is below the pressure needed to achieve the maximum insufflation capacity. We define the lowest insufflation capacity at which the best individual PCF can be achieved as optimum insufflation capacity (OIC). The study was performed using two different techniques in order to demonstrate that findings are not dependent on maneuver details but are rather based on effects of maneuver pressure. The protocol was limited to techniques which do not require breath stacking: i) insufflation with an Intermittend Positive Pressure (IPPB) device and ii) with the VENTIlogic LS using LIAM.Duchenne Muscular Dystrophy;Spinal Muscular Atrophy;Chronic Respiratory InsufficiencyNA40insufflation capacityLung volume was measured during spontaneous breathing and after a lung insufflation assist maneuver.change of lung volume with the procedure; during hospital stay on average 3 daysPeak cough flowPeak cough flow was measured during spontaneous breathing and after a lung insufflation assist maneuver.change of peak cough flow with the procedure; during hospital stay on average 3 daysFalse6FalseFalseFalseFalse NCT03443115DMD-HSHôpital CochinOTHERDuchenne Muscular Dystrophy Heart Study2018-02UNKNOWNRetrospective cohort study including patients with genetically proven Duchenne muscular dystrophy, diagnosed from January 1993 to March 2020. Inclusion of the data relative to genetic diagnosis, clinical characteristics at baseline, cardiac and respiratory workup, medical treatments (ACE inhibitors, steroids), surgical procedures, and occurrence during follow-up of cardiac, respiratory and fatal events. Objectives are to describe long-term natural history of the disease, vital prognosis, genotype-phenotype correlations, effect of treatments.OBSERVATIONALInclusion Criteria: * Genetically-proven Duchenne Muscular Dystrophy (DMD mutation) * Covering by social security Exclusion Criteria: * Patient refusal to participate to the studyMALE2024-10-18T00:00:002018-02-162018-02-162018-02-162018-02-222018-02-222017-06-272018-02-162020-03-15trueFalseFalseRetrospective cohort study including patients with genetically proven Duchenne muscular dystrophy, diagnosed from January 1993 to March 2020. Inclusion of the data relative to genetic diagnosis, clinical characteristics at baseline, cardiac and respiratory workup, medical treatments (ACE inhibitors, steroids), surgical procedures, and occurrence during follow-up of cardiac, respiratory and fatal events. Objectives are to describe long-term natural history of the disease, vital prognosis, genotype-phenotype correlations, effect of treatments.Duchenne Muscular Dystrophy;Duchenne Muscular Dystrophy-Associated Dilated Cardiomyopathy700All-cause mortalityFollow-up completed in March 2020Hospitalization for heart failureFollow-up completed in March 2020Dilated cardiomyopathyFollow-up completed in March 2020Hospitalization for acute respiratory failureFollow-up completed in March 2020FalseFalseFalseFalseFalse NCT015404094658-us-202Sarepta Therapeutics, Inc.INDUSTRYEfficacy, Safety, and Tolerability Rollover Study of Eteplirsen in Subjects With Duchenne Muscular Dystrophy2020-03COMPLETEDThe primary objective of this study is to assess the ongoing efficacy, safety, and tolerability of an additional 212 weeks of treatment with eteplirsen injection in Duchenne muscular dystrophy (DMD) subjects who have successfully completed the 28 week eteplirsen study: Study 4658-us-201. This study will also evaluate the correlation between biomarkers for DMD and the clinical status of participating DMD subjects.INTERVENTIONALInclusion Criteria: A subject must meet all of the following criteria to be eligible for this study. 1. The subject and/or their parent/legal guardian are willing and able to provide signed informed consent. 2. The subject has successfully completed 28 weeks of treatment in Study 4658-US-201. 3. The subject has a parent(s) or legal guardian(s) who is able to understand and comply with all of the study procedure requirements. Exclusion Criteria: A subject who meets any of the following criteria will be excluded from this study. 1. The subject has a prior or ongoing medical condition that, in the Investigator's opinion, could adversely affect the safety of the subject or make it unlikely that the course of treatment or follow-up would be completed or impair the assessment of study results.MALE2024-10-18T00:00:002012-02-232012-02-272020-03-262012-02-282020-03-302012-02-272016-04-152017-08-16falseThe primary objective of this study is to assess the ongoing efficacy, safety, and tolerability of an additional 212 weeks of treatment with eteplirsen injection in Duchenne muscular dystrophy (DMD) subjects who have successfully completed the 28 week eteplirsen study: Study 4658-us-201. This study will also evaluate the correlation between biomarkers for DMD and the clinical status of participating DMD subjects.Duchenne Muscular Dystrophy (DMD)PHASE212Change From Baseline in the 6 Minute Walk Test (6MWT) at Week 240This study used a modified version of the 6MWT test procedure described in American Thoracic Society (ATS) 2002 guidelines, specifically adapted for patients with Duchenne muscular dystrophy. The participant was asked to walk a set course of 25 meters for 6 minutes (timed) and the distance walked in meters was recorded. Increases from baseline in 6MWT distance are indicative of improvement and decreases from baseline indicate worsening. Baseline here corresponds to the baseline in the parent study (4658-us-201, NCT01396239).Parent Baseline and Week 240Change From Baseline in the Percentage of Dystrophin Positive Fibers (PDPF) at Week 48Dystrophin expression as assessed by percent dystrophin positive fibers was measured by immunohistochemistry (IHC) technique using primary anti-dystrophin antibody. Percent change from baseline is the arithmetic difference of the treatment time point minus baseline divided by baseline calculated for individual subjects. Baseline here corresponds to the baseline in the parent study (4658-us-201, NCT01396239).Parent Baseline and Week 48False713FalseFalseFalseFalse NCT06280209351-201BioMarin PharmaceuticalINDUSTRYA Phase 1/2 Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of BMN 351 in Participants With Duchenne Muscular Dystrophy2024-06RECRUITINGThe purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.INTERVENTIONALInclusion Criteria: * Age 4 to 10 * Diagnosis of Duchenne muscular dystrophy with a specific genetic change amenable to exon 51 skipping * Able to walk * Not requiring assistance from a ventilator to breathe * Currently on consistent doses of steroid treatment for the last 12 weeks Exclusion Criteria: * The participant will have some initial clinical labs and studies to assess baseline level of heart and lung function. * Treatment with an exon skipping therapy within 12 weeks prior to the first visit. * Any history of treatment with gene therapyMALE2024-10-18T00:00:002024-01-262024-02-202024-06-172024-02-282024-06-182024-01-032025-122025-12trueFalseFalseThe purpose of this study is to test the safety and tolerability of BMN 351 in participants with Duchenne Muscular Dystrophy (DMD) with a genetic mutation amenable to exon 51 skipping.Duchenne Muscular DystrophyPHASE1PHASE218To evaluate and safety and tolerability of single and multiple doses of BMN 351 (incidence, severity, and dose-relationship of adverse effects and changes in laboratory parameters).The safety and tolerability of BMN 351 will be assessed based on the incidence of adverse and serious adverse events.Up to 73 weeks.Pharmacokinetics (PK) concentration of BMN 351 in plasma, urine and muscle approximately every 8 weeks for up to 48 weeks.Serial measurements of plasma and urine PK predose approximately hourly up to 24 hours post-infusion. Muscle PK will be measured at 13 weeks or 25 weeks only post dosing.Serial measurements pre and post infusion.False410FalseFalseFalseFalse NCT03531788PRO18010005University of PittsburghOTHERUse of Dynamic Arm Supports to Promote Activities of Daily Living in Individuals With DMD2022-01TERMINATEDThis study is a longitudinal, randomized control trial evaluating the use of two commercially available dynamic arm support devices (1) Armon Ayura-Kinova and 2) JAECO WREX) to promote participation in activities of daily living (ADLs) in non-ambulatory individuals with Duchenne muscular dystrophy (DMD) with upper extremity weakness.INTERVENTIONALInclusion Criteria: 1. 14 years of age or older 2. Self-report diagnosis of Duchenne muscular dystrophy (DMD) 3. Use a wheelchair for mobility 4. Score 3-5 on the Brooke Upper Extremity (UE) Scale 5. Self-report of needs assistance/unable to achieve independently on at least 10 items on the Upper Limb Activities of Daily Living (UL ADL) self-report questionnaire 6. Able to follow instructions 7. Informed consent provided by self (18 and over) or by parent or legal guardian (if under the age of 18) Exclusion Criteria: 1. Does not have minimum level of UE function to operate the assigned dynamic arm support (Score of 6 on the Brooke UE scale or any other impairment limiting use) 2. The assigned dynamic arm support is unable to be mounted to wheelchair (mounts will vary based on manufacturer/model of wheelchair)MALE2024-10-18T00:00:002018-04-022018-05-082022-01-272018-05-222022-02-182018-08-302020-12-312020-12-31falseFalseTrueThis study is a longitudinal, randomized control trial evaluating the use of two commercially available dynamic arm support devices (1) Armon Ayura-Kinova and 2) JAECO WREX) to promote participation in activities of daily living (ADLs) in non-ambulatory individuals with Duchenne muscular dystrophy (DMD) with upper extremity weakness.Duchenne Muscular DystrophyNA18Change in Upper Extremity Activity Counts (Movement) Through ActigraphyMeasured through the ActiGraph GT9X wrist worn activity monitoring device: The multi-axis activity monitor measures activity counts that represent movement of the upper extremity. We calculated the average activity counts during testing items with the arm device and testing items without the arm device. We then calculated change scores (average activity counts without the device minus average activity counts with the device). Higher activity counts indicate more effort and more movement during item testing without the device compared to using the device.Collection of activity counts through the ActiGraph GT9x occurred during testing phase with and without the upper extremity arm device.Change in Upper Extremity Position Through ActigraphyMeasured through the ActiGraph GT9X wrist worn activity monitoring device: The multi-axis activity monitor (gyroscope within the monitor) measures activity counts (movement) per second in the x, y, and z planes. Change in average activity counts (movement) in x, y, and z planes during the 4-week trial period compared to the 2-week baseline period are reported (higher activity counts means more movement during trial). X plane is horizontal movement, y plane is vertical movement, and z plane extends outward from the body.Collection of activity counts through the ActiGraph GT9x occurs from baseline through the end of the 4-week device trial.Goal Attainment Scale (GAS)The GAS is a personal interview which allows the individual to determine important and personally meaningful goals. Each participant chose three individualized goals to work on and assess at the end of the study. Goal scaling is standardized in order to calculate the extent to which a patient's goals are met.The GAS uses a 5-point rating scale to determine if the goal was not met (-2) up to a greater than expected meeting of the personal goal (+2). A score of 0 indicates the goal was met as anticipated. We report the average change in the score of each goal when the participant uses the trial device. Here we use change scores which range from 0 (performed the same with and without the device) to 4 (participant performed at a greater than expected level with the device).The GAS is completed and scored at baseline and at the end of the 4 week trial with and without the device.False14FalseFalseFalseTrue NCT01603407U01NS061799University of RochesterOTHERFinding the Optimum Regimen for Duchenne Muscular Dystrophy2022-08COMPLETEDThe Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. Using the results of this study, the investigators aim to provide patients and families with clearer information about the best way to take these drugs.INTERVENTIONALInclusion Criteria: * Evidence of signed and dated informed consent form. * Confirmed diagnosis of Duchenne muscular dystrophy * Age greater than or equal to 4 years and less than 8 years old * Ability to rise independently from floor, from supine to standing * Willingness and ability to comply with scheduled visits, drug administration plan and study procedures * Ability to maintain reproducible FVC measurements. Exclusion Criteria: * History of major renal or hepatic impairment, immunosuppression or other contraindications to corticosteroid therapy. * History of chronic systemic fungal or viral infections. Acute bacterial infection(including TB) would exclude from enrolment until the infection had been appropriately treated and resolved. * Diabetes mellitus. * Idiopathic hypercalcuria. * Lack of chicken pox immunity and refusal to undergo immunization. * Evidence of symptomatic cardiomyopathy at screening assessment (one to three months prior to the baseline visit). Asymptomatic cardiac abnormality on investigation would not be an exclusion. * Current or previous treatment (greater than four consecutive weeks of oral therapy) with corticosteroids or other immunosuppressive treatments for DMD or other recurrent indications (e.g., asthma), unless approved by FOR-DMD Team (i.e., concurrent participation in another allowed DMD trial). * Inability to take tablets, as assessed by the site investigator by the end of the screening period (the screening period ranges from one to three months prior to the baseline visit). * Allergy/sensitivity to study drugs or their formulations including lactose and/or sucrose intolerance. * Severe behavioral problems, including severe autism. * Previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow up will be correctly completed or impair the assessment of study results, in the judgment of the site investigator. * Weight of less than 13 kilograms. * Exposure to any investigational drug currently or within 3 months prior to start of study treatment.MALE2024-10-18T00:00:002012-04-032012-05-212022-08-112012-05-232022-08-122013-012019-112019-11trueThe Finding the Optimum Regimen for Duchenne Muscular Dystrophy (FOR DMD) study will compare three ways of giving corticosteroids to boys with Duchenne muscular dystrophy (DMD) to determine which of the three ways increases muscle strength the most, and which causes the fewest side effects. Using the results of this study, the investigators aim to provide patients and families with clearer information about the best way to take these drugs.Duchenne Muscular DystrophyPHASE3196Forced Vital CapacityForced vital capacity was measured during a spirometry test. Forced expiratory volume (FEV) measures how much air a person can exhale during a forced breath. Forced vital capacity (FVC) is the total amount of air exhaled during the FEV test.Average of Months 3, 6, 12, 18, 24, 30 and 36 visitsRise From the Floor VelocityReciprocal of time to rise from the floorAverage of Months 3, 6, 12, 18, 24, 30 and 36 visitsTreatment Satisfaction Questionnaire for Medication (TSQM) Global Satisfaction With Treatment ScoreThe TSQM Global Satisfaction with Treatment is a 14-item questionnaire that ranges from 0 - 100 with higher scores indicating better outcomes.Average of Months 3, 6, 12, 18, 24, 30 and 36 visitsNorth Star Ambulatory Assessment (NSAA) ScoreThe North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD). It is usually used to monitor the progression of the disease and treatment effects. The activities are graded as follows: 2 - "Normal" - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently This scale is ordinal with 34 as the maximum score indicating fully-independent function.Average of Months 3, 6, 12, 18, 24, 30 and 36 visits6 Minute Walk TestMeasures the total distance walked in 6 minutes averaged over all post-baseline follow-up visits through Month 36.Average of Months 3, 6, 12, 18, 24, 30 and 36 visitsRange of Motion (Goniometry) of Left AnkleRange of motion at the ankle joint in dorsiflexion measured in degrees from plantigrade averaged over all post-baseline visits.Average of Months 3, 6, 12, 18, 24, 30 and 36 visitsRange of Motion (Goniometry) of Right AnkleRange of motion at the ankle joint in dorsiflexion measured in degrees from plantigrade averaged over all post-baseline visits.Average of Months 3, 6, 12, 18, 24, 30 and 36 visitsNumber of Participants Who Tolerated the RegimenThe number of participants who completed 36 months of follow-up on the originally assigned dosage (for weight) of study medication.3 yearsHeart RateMeasured by trans-thoracic echocardiogram and 12-lead ECG.36 monthsQuality of Life - ParentQuality of life was measured by parent/guardian self-report for all children utilizing the PEDSQL measurement tool. This is a 23-question tool. Scores can range from 0 to 100, with higher scores indicating better quality of life for the child.Average of Months 12, 24, and 36 visitsQuality of Life- ChildQuality of life was measured by child self-report in children age 5 and older utilizing the PEDSQL measurement tool. This is a 23-question tool. Scores can range from 0 to 100, with higher scores indicating better quality of life.Average of Months 12, 24, and 36 visitsLeft Ventricular Ejection Fraction PercentMeasured by trans-thoracic echocardiogram and 12-lead ECG.36 monthsFractional Shortening PercentMeasured by trans-thoracic echocardiogram and 12-lead ECG.36 monthsPR IntervalMeasured by trans-thoracic echocardiogram and 12-lead ECG.36 monthsParticipant Weight36 monthsParticipant Height36 monthsParticipant Body Mass Index36 monthsFalse47FalseFalseFalseFalse NCT01247207PTC124-GD-016 DMDPTC TherapeuticsINDUSTRYStudy of Ataluren in Previously Treated Participants With Nonsense Mutation Dystrophinopathy (nmDBMD)2024-10ENROLLING_BY_INVITATIONThe objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or treatment plan, and siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial). The treatment will continue under this protocol until consent withdrawal by participants, withdrawal due to worsen condition after initiating ataluren treatment, withdrawal by investigator, withdrawal due to participant unable to tolerate ataluren, participant is eligible to participate in another ataluren nmDBMD clinical trial program initiated by sponsor, study is discontinued by the relevant regulatory authority and/or sponsor, or until ataluren becomes commercially available.INTERVENTIONALInclusion Criteria: * Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethic Committee (IRB/IEC) regarding whether one or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed. * History of exposure to ataluren in a prior PTC study or treatment plan and effected nmDBMD siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial). * Fertile men, who are sexually active with women of childbearing potential and who have not had a vasectomy, must agree to use a barrier method of birth control during the study and for up to 50 days after the last dose of study drug. * Willingness and ability to comply with scheduled visits, drug administration and return plan, study procedures, laboratory tests, and study restrictions Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation should be considered. Exclusion Criteria: * Exposure to another investigational drug within 1 month prior to start of study treatment. * Eligibility for another ataluren clinical trial that is actively enrolling study participants. * Positive for Hepatitis B core antibody or Hepatitis C antibody at screening for ataluren naïve participants (siblings) or participants who have a temporary treatment gap of 1 year before entering study * Known hypersensitivity to any of the ingredients or excipients of ataluren (refined polydextrose, polyethylene glycol 3350, poloxamer 407, mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, colloidal silica, magnesium stearate). * Ongoing intravenous (IV) aminoglycoside or IV vancomycin therapy. * Ongoing uncontrolled medical/surgical condition, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant or make it unlikely that follow-up would be completed.MALE2024-10-18T00:00:002010-11-222010-11-232024-10-082010-11-242024-10-092010-11-302025-04-302025-04-30falseThe objective of this study is to assess the safety and tolerability of 10, 10, 20 milligrams per kilogram (mg/kg) ataluren in participants with nmDBMD who had prior exposure to ataluren in a PTC sponsored clinical trial or treatment plan, and siblings of those participants (provided those participants have completed the placebo-controlled portion of the trial). The treatment will continue under this protocol until consent withdrawal by participants, withdrawal due to worsen condition after initiating ataluren treatment, withdrawal by investigator, withdrawal due to participant unable to tolerate ataluren, participant is eligible to participate in another ataluren nmDBMD clinical trial program initiated by sponsor, study is discontinued by the relevant regulatory authority and/or sponsor, or until ataluren becomes commercially available.Duchenne Muscular DystrophyPHASE3270Number of Participants With Adverse EventsBaseline up to end of study (up to approximately 8 years)Number of Participants With Laboratory Parameters AbnormalitiesLaboratory parameters include hematological, serum biochemistry, adrenal laboratories, and urine data.Baseline up to end of study (up to approximately 8 years)Number of Participants With Abnormal Physical FindingsPhysical findings include weight, physical examination data, systolic and diastolic blood pressure, radial pulse rate, and body temperature.Baseline up to end of study (up to approximately 8 years)FalseFalseFalseFalseFalse NCT02808585PB1046-PT-CL-0003-P1PhaseBio Pharmaceuticals Inc.INDUSTRYStudy to Assess the Safety, Tolerability and PK/PD After 4 Weekly SC Injections of PB1046 in Subjects With Stable HFrEF2022-06COMPLETEDThis study will be a sequential multiple-dose escalation study that will enroll (randomize and dose) approximately 28 subjects in four cohorts consisting of 3 active and 1 placebo in Cohort 1 and 6 active and 2 placebo in subsequent cohorts. Randomized subjects will receive a fixed weekly dose of study drug or placebo for a 4 week dosing period.INTERVENTIONALInclusion Criteria: * Willing and able to sign a written informed consent and follow all study-related procedures, * Male subjects and female subjects of reproductive or childbearing potential must practice effective contraception during the study and be willing and able to continue contraception for 30 days after their last dose of study drug, * Body mass index ≥ 18 kg/m2 and ≤ 45 kg/m2, * Receipt of stable pharmacological therapy(ies) for heart failure for a minimum of 1 month prior to screening and between screening and randomization and are in stable clinical condition, * NYHA Class II or III heart failure diagnosis (ischemic or non-ischemic confirmed by medical history) at least 6 months prior to screening, * Stable HF defined as no hospitalizations for cardiac related issues within the previous 3 months prior to the screening visit or between screening and randomization, * A screening or historical Left Ventricular Ejection Fraction ≤ 40% by centralized reading of 2-D echocardiography, * Screening hemoglobin ≥ 9.0 g/dL secondary to the volume of blood to be collected during the study period, * Willing and able to return to the study unit for specified study visits, and be able to self-monitor blood pressure while at home, * Live and work in an area with reliable cellular services (e.g., Sprint®) for real time transmission of telemetry data to the core laboratory. Exclusion Criteria: * Have previously received PB1046 or have a known allergy to the study drug or any of its components, * Participating in any other study and have received any other investigational medication or device within 30 days prior to screening or are taking part in a non-medication study which, in the opinion of the Investigator, would interfere with study compliance or outcome assessments, * Diagnosed with acute coronary syndrome (ACS) or an acute myocardial infarction (MI) within 3 months of screening, * Canadian Cardiovascular Society (CCS) Class III or IV angina necessitating frequent use of as needed short acting nitroglycerin, * Cardiac surgery or valvuloplasty within 3 months prior to screening, * Cerebrovascular accident or transient ischemic attack within 3 months prior to screening, * Sustained systolic blood pressure (SBP) \< 110 mmHg and/or diastolic blood pressure (DBP) \< 50 mmHg (confirmed by a duplicate seated reading) on at least 3 consecutive readings (self-monitored or office) prior to randomization or overt symptomatic hypotension, * Sustained resting heart rate \>100 beats per minute (BPM) at screening (V1) or prior to randomization, * History or evidence of clinically significant arrhythmias (uncontrolled by drug therapy or use of an implantable defibrillator), long QT syndrome or evidence of QT prolongation demonstrating QTcF \> 460 ms prior to randomization (Subjects with QTcF \>460 ms due to electronic pacing by an implanted pacemaker/ICD device may be enrolled), * Clinically significant renal dysfunction as measured by the estimated glomerular filtration rate (eGFR) of \< 40 mL/min/1.73m2 as calculated by the CKD-EPI creatinine-cystatin C equation at screening, or a clinically significant change in renal function between screening and baseline, * Clinically significant liver dysfunction as measured by: alanine aminotransferase \>3.0 × the upper limit of normal (ULN), aspartate aminotransferase \>3.0 × the ULN, or serum bilirubin ≥ 1.6 mg/dL at screening, or a clinically significant change in liver function between screening and baseline, * Pregnant or lactating female subjects, * Known history of or active alcohol abuse or use of illicit drugs within 1 year prior to randomization, * Positive screening for human immunodeficiency virus antibodies, hepatitis B surface antigen, or hepatitis C virus antibodies, * Any major surgical procedure within 1 month prior to screening or planned surgical procedure during the study period, * Other medical or psychiatric condition which, in the opinion of the Investigator, would place the subject at increased risk or would preclude obtaining voluntary consent/assent or would confound the secondary objectives of study.ALL2024-10-18T00:00:002016-06-082016-06-162022-06-202016-06-222022-07-142016-062017-12-062017-12-06falseThis study will be a sequential multiple-dose escalation study that will enroll (randomize and dose) approximately 28 subjects in four cohorts consisting of 3 active and 1 placebo in Cohort 1 and 6 active and 2 placebo in subsequent cohorts. Randomized subjects will receive a fixed weekly dose of study drug or placebo for a 4 week dosing period.Heart FailurePHASE229TelemetryNumber of participants with rhythm abnormalities as assessed by continuous mobile telemetry monitoring.Up to six weeks starting 7 to 10 days before first dose.12-Lead ECG Assessment - Incidence of Clinically Significant FindingsNumber of participants with a clinically significant change from baseline in 12-Lead ECG and presence of rhythm abnormalities and relationship to exposure of PB1046 compared to placeboSeven weeks starting the first week of dosing.12-Lead ECG - Categorical Analysis of QT/QTc Interval - Participants With Clinically Significant FindingsNumber of participants with a clinically significant change from baseline in 12-Lead ECG and presence or absence of rhythm abnormalities and relationship to exposure of PB1046 compared to placeboSeven weeks starting the first week of dosing.Laboratory Parameters - Serum Chemistry - Participants With Clinically Significant FindingsNumber of participants with clinically significant changes from baseline in laboratory parameters (serum chemistry) and the relationship to PB1046 compared to placeboEight weeks starting one week before first dose.Laboratory Parameters - Hematology - Participants With Clinically Significant FindingsNumber of participants with clinically significant changes from baseline in laboratory parameters (hematology) and the relationship to PB1046 compared to placeboEight weeks starting one week before first dose.Laboratory Parameters - Urinalysis - Participants With Clinically Significant FindingsNumber of participants with clinically significant changes from baseline in laboratory parameters (urinalysis) and the relationship to PB1046 compared to placeboEight weeks starting one week before first dose.Laboratory Parameters - eGFRChanges from baseline in laboratory parameters (eGFR) and the relationship to PB1046 compared to placebo. Calculated using Chronic Kidney Disease Epidemiology Collaboration Equation (CKD-EPI)Baseline, Week 2, 3, 4, 5 and 8.Laboratory Parameters - Lipid Profile - Participants With Clinically Significant FindingsNumber of participants with clinically significant changes from baseline in laboratory parameters (lipid profile) and the relationship to PB1046 compared to placeboEight weeks starting one week before first dose (Baseline and at Week 8).Vital Signs - Systolic Blood PressureChanges from baseline in vital signs (systolic blood pressure) and the relationship to PB1046 compared to placebo.Baseline, Day 0, Day 1, 2, 3, 5, 7, 14, 21, 22, 23, 24, 26, 28, 29, 30, 31, and 49.Vital Signs - Heart RateChanges from baseline in vital signs (heart rate) and the relationship to PB1046 compared to placebo.Baseline, Day 0, Day 1, 2, 3, 5, 7, 14, 21, 22, 23, 24, 26, 28, 29, 30, 31, and 49.Vital Signs - TemperatureChanges from baseline in vital signs (temperature) and the relationship to PB1046 compared to placebo.Baseline, Day 0, Day 1, 2, 3, 5, 7, 14, 21, 22, 23, 24, 26, 28, 29, 30, 31, and 49.Vital Signs - Respiratory RateChanges from baseline in vital signs (respiratory rate) and the relationship to PB1046 compared to placebo.Baseline, Day 0, Day 1, 2, 3, 5, 7, 14, 21, 22, 23, 24, 26, 28, 29, 30, 31, and 49.Vital Signs - Diastolic Blood PressureChanges from baseline in vital signs (systolic blood pressure) and the relationship to PB1046 compared to placebo.Baseline, Day 0, Day 1, 2, 3, 5, 7, 14, 21, 22, 23, 24, 26, 28, 29, 30, 31, and 49.Pharmacokinetic Profile - Area Under the Curve Over the Dosing Interval [AUC(0-t)]Comparison of dose exposures \[AUC(0-t)\] during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Maximum Serum Concentration (Cmax)Comparison of dose exposures (Cmax) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Time to Cmax (Tmax)Comparison of dose exposures (Tmax) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Elimination Rate Constant (Lambda z)Comparison of dose exposures (lambda z) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Elimination Half-life (t½)Comparison of dose exposures (t½) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Clearance (CL/F), Uncorrected for BioavailabilityComparison of dose exposures (CL/F) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.Pharmacokinetic Profile - Volume of Distribution (Vz/F), Uncorrected for Bioavailability (F)Comparison of dose exposures (Vz/F) during once weekly administration of various doses of PB1046Pre-dose, Day 1 post-dose (1, 3, 24, 48, 72, 120 hours post-dose 1), Day 7, 14, 21 (1, 3, 24, 48, 72, 120 hours post-dose 4), Day 22, 23, 24, 26, 28, 29, 30, and 31.ImmunogenicityNumber of participants reporting positive immunogenicity (four-fold increase of pre-dose titer)Eleven weeks starting the first week of dosing.False18FalseFalseFalseFalse NCT04193085AAAS5641Columbia UniversityOTHERWearable Technology to Assess Gait Function in SMA and DMD2024-02COMPLETEDThe purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment. To achieve high accuracy, the investigators will develop a new learning-based calibration framework. Features will be tested in controlled lab settings 39 during a single visit in people with SMA (13), DMD (13) and healthy controls (13) and in 15 participants in real-life environments.OBSERVATIONALInclusion Criteria: 1. One of the following categories: * Genetic confirmation of spinal muscular atrophy * Genetic confirmation of Duchenne or Becker muscular dystrophy or evidence on muscle biopsy with a clinical presentation consistent with DMD/BMD * Healthy individuals. 2. Able to walk independently at least 25 meters Exclusion Criteria: 1. Unable to walk 25 meters independently. 2. Use of investigational medications intended for the treatment of SMA or DMD/BMD within 30 days prior to study entry.ALL2024-10-18T00:00:002019-11-112019-12-062024-09-202019-12-102024-09-232019-11-252023-08-312023-08-31falseFalseFalseThe purpose of this project is to devise instrumented insoles capable of accurately measuring gait at each footfall, over multiple hours in any environment. To achieve high accuracy, the investigators will develop a new learning-based calibration framework. Features will be tested in controlled lab settings 39 during a single visit in people with SMA (13), DMD (13) and healthy controls (13) and in 15 participants in real-life environments.Spinal Muscular Atrophy Type 3;Duchenne Muscular Dystrophy39Validation of Instrumented Insoles: Six Minute Walk TestTo measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway participants will complete the Six Minute Walk Test. This test is an objective evaluation of functional exercise capacity, measures the maximum distance a person can walk in six minutes over a 25 meter course. This will be performed in a corridor and include the instrumented walkway.BaselineValidation of Instrumented Insoles: 10 Meter Walk/RunTo measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will walk, or run if able to, for 10 meters on the instrumented walkway.BaselineValidation of Instrumented Insoles: Time Up and Go Test (TUG)To measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will complete the TUG test. This test is designed to test mobility after a person stands up from a seated position. This will be completed on the instrumented walkway.BaselineValidation of Instrumented Insoles: Straight Line WalkingTo measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway, participants will be asked to walk in a straight line multiple times over the instrumented walkway.BaselineValidation of Instrumented Insoles: Circle WalkingTo measure spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity in order to compare against the gold standard instrumented walkway participants will be asked to walk a series of half-circles on the instrumented walkway.BaselineMuscle Strength Testing with Hand-held Dynamometry (HHD)HHD is used to assess strength of selected muscles.BaselineFree-living Testing of Instrumented InsolesTo determine spatial parameters, kinetic parameters, temporal parameters, and metrics of cumulative activity using instrumented insoles, 5 participants with SMA, 5 participants with DMD, and 5 healthy controls will be asked to wear the insoles along with a validated activity tracker. Participants will be asked to wear the insoles during a visit to the lab, and then for one week at home in a real-life environment. Participants will be asked to wear the insoles and activity tracker for at least 4 hours per day when at home.One weekTrue5FalseFalseFalseFalse NCT05166109VBP15-BMD-001ReveraGen BioPharma, Inc.INDUSTRYA Study to Assess Vamorolone in Becker Muscular Dystrophy (BMD)2024-08RECRUITINGThis Phase II pilot study is a randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, PK, PD, and exploratory clinical efficacy of vamorolone 500mg (250mg for body weight \<50 kg) daily administered orally compared to placebo over a treatment period of 24 weeks in males with BMD. Funding Source - FDA OOPDINTERVENTIONALInclusion Criteria: 1. Subject or Subject's parent(s) or legal guardian (s) has (have) provided written informed consent and Health Insurance Portability and Accountability Act (HIPAA) authorization, where applicable, prior to any study-related procedures; 2. Subject is a male and has a confirmed diagnosis of Becker dystrophy as defined as: 1. Identifiable mutation within the DMD gene (deletion/duplication of one or more exons), where reading frame can be predicted as 'in-frame', and clinical picture consistent with Becker dystrophy, OR 2. Complete dystrophin gene sequencing showing an alteration (small mutation, duplication, other) that is expected to allow production of an internally deleted dystrophin protein, with a typical clinical picture of Becker dystrophy; 3. Subject is ≥ 18 years of age and \<65 years of age at time of informed consent; 4. Subject is able to perform the timed run/walk 10 meters assessment (TTRW) in ≤ 30 sec at screening; assistive devices, cane or walker, are allowed. 5. Subject has an NSAA score ≤ 32 at screening. 6. Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant, in the opinion of the Investigator. (Note: Serum gamma glutamyl transferase \[GGT\], creatinine, and total bilirubin all must be ≤ upper limit of the normal range at the Screening Visit). While AST and ALT can be elevated due to disease of muscle or liver, the study PI will review any increases of AST or ALT. If above upper limit of normal (ULN), then study PI will assess whether the increases are likely of muscle origin to determine inclusion. 7. Subject has not received oral glucocorticoids or other oral immunosuppressive agents for at least 3 months prior to first administration of study medication. \[Note: Inhaled and/or topical glucocorticoids are permitted if last use is at least 4 weeks prior to first administration of study medication or if administered at stable dose beginning at least 4 weeks prior to first administration of study medication and anticipated to be used at the stable dose regimen for the duration of the study\]; 8. Subject has evidence of chicken pox immunity as determined by: 1. Presence of IgG antibodies to varicella, as documented by a positive test result from the local laboratory from blood collected during the Screening Period; OR 2. Documentation, provided at the Screening Visit, that the subject has received 2 doses of varicella vaccine, with or without serologic evidence of immunity, with the second of the 2 immunizations given at least 14 days prior to first administration of study medication; 9. Subject is willing and able to comply with scheduled visits, study medication administration plan, and study procedures. 10. Subject agrees to use barrier contraception methods during his participation in this study and for 30 days after the tapering dose is completed. Exclusion Criteria: 1. Subject has current or history of major renal or hepatic impairment, uncontrolled diabetes mellitus (defined as a diagnosis of diabetes with random glucose more than 1.5x ULN at screening and the patient has symptoms of polyuria or polydipsia) or immunosuppression; 2. Subject has current or history of chronic systemic fungal or viral infections; 3. Subject has had an acute illness within 4 weeks prior to the first dose of study medication 4. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), or mexrenone (mexrenoate potassium) within 4 weeks prior to administration of study medication; 5. Subject has evidence of symptomatic cardiomyopathy \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary unless cardiac ejection fraction is less than 40%\]; 6. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents; 7. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 8. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; 9. Subject is taking (or has taken within 4 weeks prior to first dose of study medication) herbal remedies and supplements which can impact muscle strength and function (e.g., Co-enzyme Q10, creatine, etc); 10. Subject has been administered a live attenuated vaccine within 14 days prior to the first dose of study medication; 11. Subject is currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to first dose of study medication; or 12. Subject has previously been enrolled in the VBP15-BMD-001 study or any other vamorolone study.MALE2024-10-18T00:00:002021-12-082021-12-082024-08-162021-12-212024-08-192022-07-072025-06-302025-06-30trueTrueFalseThis Phase II pilot study is a randomized, double-blind, placebo-controlled study to evaluate the safety, tolerability, PK, PD, and exploratory clinical efficacy of vamorolone 500mg (250mg for body weight \<50 kg) daily administered orally compared to placebo over a treatment period of 24 weeks in males with BMD. Funding Source - FDA OOPDBecker Muscular DystrophyPHASE239Safety as measured by Treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs) by system organ class (SOC and PT)Clinical AEs and clinical laboratory AEs will be graded according to the Common Terminology Criteria for Adverse Events (CTCAE), version 4.03, dated June 14, 2010. Dose-limiting toxicities will be defined as follows: 1. The presence of a CTCAE Grade ≥ 3 AE, considered to be probably or definitely related to study drug 2. The presence of a CTCAE Grade ≥ 3 clinical laboratory AE considered to be probably or definitely related to study drug 3. Deterioration of the muscle condition, unexpected for the natural course of BMD and without other clear cause24 weeksSafety as measured by Sitting Blood PressureChange in Sitting Blood Pressure from baseline to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Day 1, Week 4, Week 12, Week 24, Week 28Safety as measured by Heart RateChange in Heart Rate from baseline to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Day 1, Week 4, Week 12, Week 24, Week 28Safety as measured by Respiratory RateChange in Respiratory Rate from baseline to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Day 1, Week 4, Week 12, Week 24, Week 28Safety as measured by Body TemperatureChange in Body Temperature from baseline to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Day 1, Week 4, Week 12, Week 24, Week 28Safety as measured by Body WeightChange in Body Weight from baseline to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Week 12, Week 24, Week 28Safety as measured by HeightChange in Height from screening to each of the scheduled on-treatment and post-treatment assessment time points for each treatment group.Week 12, Week 24, Week 28Safety: concentration of blood laboratory biomarkers as assessed by standardized clinical laboratory reference rangesBlood biomarkers are White Blood cells (WBCs), Red Blood Cells, (RBCs), hemoglobin, Platelets, Sodium, Potassium, Chloride, Calcium, Blood Urea Nitrogen (BUN), Creatinine, Total Protein, Albumin, Total Bilirubin, Glucose, Alkaline Phosphatase (ALP), Gamma Glutamyl Transferase (GGT), Glutamate Dehydrogenase (GLDH), Aspartate aminotransferase (AST), Alanine aminotransferase (ALT), Creatine kinase (CK), Bicarbonate, Triglycerides, Total cholesterol, Low Density Lipoprotein (LDL) and High density Lipoprotein (HDL). Change from baseline to each of the scheduled on treatment and post-treatment time points will be assessed.Week 4, Week 12, Week 24Safety: concentration of urine laboratory biomarkers as measured by dipstick and microscopic analysisUrine biomarkers are protein, glucose, ketones, leukocyte esterase, White Blood Cells (WBCs), Red Blood Cells, (RBCs) and bacteria. Change from baseline to each of the scheduled on treatment and post-treatment time points will be assessed.Week 4, Week 12, Week 24Safety as measured by 12-lead ECG12-lead ECG as recorded after subject has rested quietly in a supine position for at least 5 minutes. ECG components are QRS duration, PR interval, QT interval and QTc interval. Change from baseline to each of the scheduled on-treatment and post-treatment assessment time points.Week 12, Week 24Tolerability as measured by incidence of Premature DiscontinuationPremature Discontinuation of study treatment due to adverse event.24 weeksPharmacokinetics as measured by AUCinfBlood will be collected from all subjects at the Day 1 Visit, at 1, 2 and 3 hours post-dose, for vamorolone PK analysisDay 1Safety as measured by serum concentration of osteocalcinChange from baseline to Week 24 will be assessed for each treatment group.Week 24Safety as measured by serum concentration of hemoglobin A1c (HbA1c)Change from baseline to Week 24 will be assessed for each treatment group.Week 24Safety as measured by fasting serum concentration of glucoseChange from baseline to each of the scheduled study assessment time points for each treatment group.Week 12, Week 24Safety as measured by fasting serum concentration of insulinChange from baseline to each of the scheduled study assessment time points for each treatment group.Week 12, Week 24Efficacy as measured by concentration of serum pharmacodynamic biomarkersCD23 (also known as Fc epsilon RII) and Macrophage Derived Chemokine (MDC) and concentration from baseline to Week 24.Week 12, Week 24Safety as measured by concentration of Salivary CortisolFirst-in-morning salivary cortisol levels will be measured. Cortisol measures falling below 3.6 µg/dL (or 100 nM) will be considered to be indicative of the development of adrenal suppression. Cortisol will be assessed for each treatment group.Day 1, Week 12, Week 24False1864FalseFalseFalseFalse NCT03433807SNT-EAP-002Santhera PharmaceuticalsINDUSTRYExpanded Access Program for Idebenone in Participants With Duchenne Muscular Dystrophy (DMD)2023-04NO_LONGER_AVAILABLEThe primary objective of this Expanded Access Program is to provide idebenone as a treatment for eligible participants with Duchenne Muscular Dystrophy before it is commercially available in the United States (U.S.) for the indication of DMD.EXPANDED_ACCESSInclusion Criteria: * Documented diagnosis of DMD (severe dystrophinopathy) and clinical features consistent of typical DMD at diagnosis (i.e., documented delayed motor skills and muscle weakness by age 5 years) and who in the opinion of the Treating physician would benefit from treatment with idebenone. DMD should be confirmed by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e., absent or \<5% of normal) on Western blot or immunostaining. * Minimum 8 years old at Prescreening. * PEF or FVC ≤80% and \>25% of predicted value based on most recent assessment noted in the patient's medical record and subsequently confirmed at the Enrollment Visit. * Able to understand program requirements and swallow program medication. * Signed and dated Informed Consent Form (to be obtained at the Enrollment Visit from patient or parent/legal guardian (if applicable) prior to performing any program-specific procedures and dispensing idebenone to the patient). Exclusion Criteria: * Eligible for and able to participate in an ongoing clinical trial of idebenone. * Is at high-risk of a fatal outcome from lung infection and/or advanced cardiomyopathy in the opinion of the Treating physician. * Known moderate or severe impairment of hepatic function or severe impairment of renal function. * Prior or ongoing medical condition or laboratory abnormality which in the Treating physician's opinion may put the patient at significant risk or may interfere significantly with the patient's participation in the program. * Abuse of drugs or alcohol, which in Treating physician's opinion would interfere with the compliance to treatment. * Known individual hypersensitivity to idebenone or to any of the ingredients/excipients of the program medication.ALL2024-10-18T00:00:002018-02-082018-02-082023-04-202018-02-152023-04-21The primary objective of this Expanded Access Program is to provide idebenone as a treatment for eligible participants with Duchenne Muscular Dystrophy before it is commercially available in the United States (U.S.) for the indication of DMD.Duchenne Muscular DystrophyFalseFalseFalseFalse NCT01037309PRO044-CLIN-01BioMarin PharmaceuticalINDUSTRYPhase I/II Study of PRO044 in Duchenne Muscular Dystrophy (DMD)2018-09COMPLETEDThe purpose of this study is to see whether PRO044 is safe and effective to use as medication for DMD patients with a mutation around location 44 in the DNA for the dystrophin protein.INTERVENTIONALInclusion Criteria: 1. Boys aged between 5 and 16 years inclusive. 2. Duchenne muscular dystrophy resulting from a mutation correctable by treatment with PRO044. 3. Life expectancy of at least 6 months. 4. No previous treatment with investigational medicinal treatment within 6 months prior to the start of the (pre)-screening for the study. 5. No previous treatment with idebenone within 6 months prior to the start of the (pre)-screening for the study. 6. Willing and able to adhere to the study visit schedule and other protocol requirements. 7. Written informed consent signed (by parent(s)/legal guardian and/or the patient, according to the local regulations). 8. Glucocorticosteroids use which is stable for at least 2 months prior first drug administration. Exclusion Criteria: 1. Aberrant RNA splicing and/or aberrant response to PRO044, detected by in vitro PRO044 assay during pre-screening. 2. Known presence of dystrophin in ≥ 5% of fibers in a pre-study diagnostic muscle biopsy. 3. Severe muscle abnormalities defined as increased signal intensity in \>50% of the tibialis anterior muscle at MRI. 4. FEV1 and/or FVC \< 60% of predicted. 5. Current or history of liver or renal disease. 6. Acute illness within 4 weeks prior to treatment (Day 1) which may interfere with the measurements. 7. Severe mental retardation which in the opinion of the investigator prohibits participation in this study. 8. Severe cardiac myopathy which in the opinion of the investigator prohibits participation in this study. 9. Need for mechanical ventilation. 10. Creatinine concentration above 1.5 times the upper limit of normal (age corrected). 11. Serum ASAT and/or ALAT concentration(s) which suggest hepatic impairment. 12. Use of anticoagulants, antithrombotics or antiplatelet agents. 13. Use of idebenone. 14. Use of any investigational product within 6 months prior to the start of the (pre)-screening for the study. 15. Subject has donated blood less than 90 days before the start of the (pre)-screening for the study. 16. Current or history of drug and/or alcohol abuse. 17. Participation in another trial with an investigational product.MALE2024-10-18T00:00:002009-12-212009-12-212018-09-192009-12-232018-10-162009-122013-052013-10trueTrueFalseThe purpose of this study is to see whether PRO044 is safe and effective to use as medication for DMD patients with a mutation around location 44 in the DNA for the dystrophin protein.Duchenne Muscular DystrophyPHASE1PHASE218Increase in Dystrophin Expression in the Muscle Biopsies by Immunofluorescence Analyses of Cross-sections and by Western Blot Analyses of Total Protein ExtractsWithin 13 weeks after 5 weeks of treatmentSafety and Tolerability of PRO044number of subjects with 1 or more treatment emergent adverse events following SC or IV PRO044During the 5 weeks of treatment and during the 13 weeks after treatmentPRO044 Pharmacokinetic Cmax (μg/mL) Following Subcutaneous AdministrationPharmacokinetic population evaluated for maximum plasma concentration (Cmax)Week 1, Week 5False516FalseFalseFalseFalse NCT04529707STUDY20030019University of PittsburghOTHERSleep Intervention in Young Boys With Duchenne Muscular Dystrophy2024-03RECRUITINGThis project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY). As an early stage study, investigators will focus on recruitment strategies to reach the target population and collection of preliminary data on primary and secondary effects of the TranS-CY. Weekly remote (video web conferencing) parent training sessions will allow investigators to explore adoption through parent adherence and examine whether the essential elements of the TranS-CY intervention (e.g., motivational interviewing, goal setting, problem solving, sleep routine scheduling, monitoring) can be consistently taught by clinicians and implemented by parents into the home setting.INTERVENTIONALInclusion Criteria: * Parents/caregivers of youth between ages 6 and 17 with a primary diagnosis of Duchenne muscular dystrophy (DMD) who lives at home . * Access to a smart-phone or computer and internet for the weekly web-based sessions, as well as uploading of the Actigraph data; * English speaking. Exclusion Criteria: * Unable to speak or read English * Their child with DMD has cognitive or behavioral concerns that would limit participation and follow-through of intervention; * Their child/youth with DMD is currently receiving an intervention for a sleep related disorderALL2024-10-18T00:00:002020-08-172020-08-242024-03-012020-08-282024-03-052021-02-172025-12-312026-08-31falseFalseFalseThis project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY). As an early stage study, investigators will focus on recruitment strategies to reach the target population and collection of preliminary data on primary and secondary effects of the TranS-CY. Weekly remote (video web conferencing) parent training sessions will allow investigators to explore adoption through parent adherence and examine whether the essential elements of the TranS-CY intervention (e.g., motivational interviewing, goal setting, problem solving, sleep routine scheduling, monitoring) can be consistently taught by clinicians and implemented by parents into the home setting.Duchenne Muscular DystrophyNA100Parent Mastery Questionnaire100% of parents who are retained throughout the study will attain ≥80% knowledge accuracy at each knowledge check time point and will accurately answer 8 of the 10 questions provided.A 10-item questionnaire focused on intervention modules will be delivered every 2-3 weeks during the 10 week intervention. Parents will be required to answer questions that address their knowledge of the information provided in each module.Child intradaily variability from ActigraphyVector magnitude scores from Actigraphy for each 2-week data collection period (pre and post intervention) are analyzed through nParAct software. Analyses provide us with our secondary outcome of intradaily variability. Intradaily variability is the frequency and extent of transitions between periods of rest and activity on an hourly basis over 24 hours. Relative amplitude is how active a child is during a 24 hour period.2 weeks pre-intervention and 2 weeks post-interventionChild relative amplitude from ActigraphVector magnitude scores from Actigraphy for each 2-week data collection period (pre and post intervention) are analyzed through nParAct software. Analyses provide us with our secondary outcome of relative amplitude. Relative amplitude is how active a child is during a 24 hour period.2 weeks pre-intervention and 2 weeks post-intervention.False618FalseFalseFalseFalse NCT024328851095/08InCor Heart InstituteOTHERMyocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - ACE Inhibitor Therapy Trial2015-04COMPLETEDThis trial intends to evaluate myocardial Fibrosis progression in Duchenne and Becker Muscular Dystrophy, as well the influence of ACE inhibitors in fibrosis progression. Additionally, this study aims to determine genetic predictors of cardiac involvement in these dystrophies.INTERVENTIONALInclusion Criteria: * Patients with biopsy-proven Muscular Dystrophy of Duchenne or Becker Exclusion Criteria: * Contraindications to cardiovascular magnetic resonance imagingALL2024-10-18T00:00:002015-03-242015-05-012015-05-012015-05-042015-05-042009-062012-062013-06falseThis trial intends to evaluate myocardial Fibrosis progression in Duchenne and Becker Muscular Dystrophy, as well the influence of ACE inhibitors in fibrosis progression. Additionally, this study aims to determine genetic predictors of cardiac involvement in these dystrophies.Myocardial Fibrosis;Muscular DystrophiesPHASE376Quantitative Myocardial Fibrosis by CMR in patients with and without ACE inhibitor therapyProgression of myocardial fibrosis2 yearsSpecific genetic mutations as predictors of cardiac involvementRelation of dystrophin gene site mutations in exons \<45 relation and the extent of myocardial fibrosis measured by cardiac magnetic resonance2 yearsFalse6FalseFalseFalseFalse NCT02516085C3391003PfizerINDUSTRYStudy to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy2024-09ACTIVE_NOT_RECRUITINGThe study will evaluate the safety and efficacy of gene therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study with two thirds of participants assigned to gene therapy. The one third of participants who are randomized to the placebo arm will have an opportunity for treatment with gene therapy at the beginning of the second year.INTERVENTIONALKey inclusion criteria: 1. Confirmed diagnosis of Duchenne muscular dystrophy by prior genetic testing 2. Receiving a stable daily dose (at least 0.5 mg/kg/day prednisone or prednisolone, or at least 0.75 mg/kg/day deflazacort) for at least 3 months prior to Screening 3. Ambulatory, as assessed by protocol-specified criteria Key exclusion criteria: 1. Positive test performed by Pfizer for neutralizing antibodies to AAV9 2. Any treatment designed to increase dystrophin expression within 6 months prior to screening (e.g., Translarna™, EXONDYS 51™, VYONDYS 53™) 3. Any prior treatment with gene therapy 4. Any non-healed injury that may impact functional testing (eg NSAA) 5. Abnormality in specified laboratory tests, including blood counts, liver and kidney function 6. Any of the following genetic abnormalities in the dystrophin gene: 1. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR 2. A deletion that affects both exon 29 and exon 30;OR 3. A deletion that affects any exons between 56-71, inclusive.MALE2024-10-18T00:00:002020-02-112020-02-202024-09-182020-02-242024-09-192020-11-052024-05-152029-04-19trueTrueFalseThe study will evaluate the safety and efficacy of gene therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study with two thirds of participants assigned to gene therapy. The one third of participants who are randomized to the placebo arm will have an opportunity for treatment with gene therapy at the beginning of the second year.Duchenne Muscular DystrophyPHASE3122Change from Baseline in North Star Ambulatory Assessment (NSAA)The NSAA is a 17-item test that measures gross motor function in children with Duchenne.Week 52Change from Baseline in mini-dystrophin expression level in muscleMini-dystrophin expression level from a muscle biopsy will be assessed by liquid chromatography mass spectrometry (LC-MS).Week 52Change from Baseline in distribution of mini-dystrophin expression in the muscleMini-dystrophin distribution from a muscle biopsy will be assessed by immunofluorescence.Week 52Change from Baseline in serum creatine kinase (CK)Changes in the circulating levels of CK.Week 52Number of skills gained based on the individual items of the NSAA.To count the skills that each child gained, based on the individual items of the NSAA.Week 52Number of skills improved or maintained based on the individual items of the NSAATo count the skills that each child improved or maintained, based on the individual items of the NSAA.Week 52Change from Baseline in the 10-meter run/walk test velocityVelocity is calculated based on the time that it takes to complete the 10-meter run/walk test.Week 52Change from Baseline in the rise from floor velocityVelocity is calculated based on the time that it takes to the rise from floor.Week 52Change from Baseline in the Modified Pediatric Outcomes Data Collection Instrument (PODCI): Transfer and Basic Mobility Core ScaleThe PODCI contains a list of questions to assess how each caregiver/child evaluates the child´s ability to to walk, stand, and perform activities of daily living.Week 52Change from Baseline in the Modified Pediatric Outcomes Data Collection Instrucment (PODCI): Sports and Physical Functioning Core ScaleThe PODCI contains a list of questions to assess how each caregiver/child evaluates the child´s ability to perform recreational activities.Week 52False47TrueFalseFalseFalse NCT01125709CNMC0609Cooperative International Neuromuscular Research GroupNETWORKComparative Study of Clinical Endpoint in DMD: Handheld Myometry (HHM) Versus CINRG Quantitative Measurement System (CQMS)2013-01COMPLETEDThe aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment. This study will be performed at six participating sites in the Cooperative International Neuromuscular Research Group (CINRG).OBSERVATIONALParticipants should meet the following criteria: 1. Confirmed clinical and molecular diagnosis of DMD 2. 6- 18 years of age 3. Ability to follow 2 step instructions 4. Ability to transfer to and from the wheelchair-mat with moderate assistance defined as no greater than 75% assistance. 5. Signed informed consent of parental or legal guardian(s) is required for participants. Assent from children 7-18 years old may also required. Exclusion Criteria: Participants must confirm: 1. No Surgical procedures were performed ≤ 8 weeks before study procedures. 2. No musculoskeletal injuries were experienced ≤ 8 weeks before study procedures. 3. Investigator assessment that patient or parent/legal guardian are not willing or able to comply with study procedures.MALE2024-10-18T00:00:002010-05-172010-05-172013-01-102010-05-182013-01-112010-012010-062010-08trueThe aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment. This study will be performed at six participating sites in the Cooperative International Neuromuscular Research Group (CINRG).Duchenne Muscular Dystrophy30Compare the inter and intra rater reliability of HHM and CQMS by measuring Elbow and Knee Flexor/Extensor Strength in children ages 6-18 diagnosed with DMD tested by experienced clinical evaluators in both HHM and CQMS.Muscle groups will be tested in a standardized order 1. Knee extension 2. Knee flexion 3. Elbow Flexion 4. Elbow extension with all tests sequencing following a right to left pattern. This will reduce assessment bias and the impact of muscle fatigue per muscle group. Study participants are randomized to two different sequences of four assessments, one sequence performed on one testing day (Visit 1) and another on a different testing day (Visit 2).two-day visitFalse618FalseFalseFalseFalse NCT061140562023-1285West China HospitalOTHERA Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)2024-01RECRUITINGThis study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in pediatric patients with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: Participants meeting all of the following criteria may be considered for inclusion: 1. Male, aged 5 to 10 years (inclusive). 2. Diagnosis of Duchenne Muscular Dystrophy (DMD) confirmed through medical history and genetic testing, characterized by a frameshift mutation (deletion or duplication) or a premature stop codon mutation in the DMD gene between exons 18 to 58. 3. Below-average performance on motor assessment testing. 4. Ability to cooperate with motor assessment testing. 5. Tolerance for muscle biopsy under anesthesia with no contraindications for biopsy. 6. Participants must have been taking a stable dose of oral corticosteroids for at least 12 weeks prior to screening, and the expected dose should remain constant throughout the study, except for adjustments related to changes in body weight. Exclusion Criteria: Participants meeting any one of the following criteria are not eligible for inclusion: 1. Active viral infection based on clinical observations. 2. Signs of cardiomyopathy, including echocardiogram with ejection fraction below 40%. 3. Serological evidence of HIV infection, or Hepatitis B or C infection. 4. Diagnosis of (or ongoing treatment for) an autoimmune disease. 5. Abnormal laboratory values considered clinically significant (GGT \> 3XULN, bilirubin ≥ 3.0 mg/dL, creatinine ≥ 1.8 mg/dL, Hgb \< 80 or \> 180 g/L; WBC \> 18.5\*10\^9/L). 6. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer. 7. Subjects with AAVrh74 neutralizing antibody titers \> 1:400 as determined by ELISA immunoassay. 8. Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability. 9. Severe infection (eg. pneumonia, pyelonephritis, or meningitis) within 4 weeks before gene transfer visit (enrollment may be postponed). 10. Has received any investigational medication (other than corticosteroids) or exon skipping medications (including ExonDys 51), experimental or otherwise, in the last 6 months prior to screening for this study. 11. Has had any type of gene therapy, cell based therapy (eg. stem cell transplantation), or CRISPR/Cas9. 12. Family does not want to disclose patient's study participation with primary care physician and other medical providersMALE2024-10-18T00:00:002023-10-292023-10-292024-01-162023-11-022024-01-172024-01-222025-06-302028-12-31FalseFalseThis study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in pediatric patients with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE16adverse eventsAdverse events defined as the number of participants with adverse events according CTCAE v5.05 yearsNorth Star Ambulatory AssessmentNorth Star Ambulatory Assessment (NSAA) is a clinical tool used to assess the motor function and ambulatory capabilities of children and adolescents with neuromuscular disorders like Duchenne muscular dystrophy.5 yearsSix-Minute Walk Testthe distance the patient walked in six minutes5 years10-Meter Walk/Run TestThe time it takes to walk 100 meters5 yearscreatine kinaseChanges in circulating levels of CK5 yearsthe expression of micro-dystrophin geneBaseline muscle biopsies for dystrophin expression will be performed between -30 and -7 days prior to treatment in all subjects. All subjects will undergo a post-treatment biopsy on day 180. Micro-dystrophin gene expression was quantified (immunofluorescence and Western blot analysis) and compared before and after muscle biopsy.6 monthsFalse510TrueFalseFalseFalse NCT063668154619Fondazione Policlinico Universitario Agostino Gemelli IRCCSOTHERphenotypeS in Non Ambulant Duchenne Muscular Dystrophy2024-10RECRUITINGThe aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac functionOBSERVATIONALInclusion Criteria: * Children with genetically confirmed diagnosis of Duchenne Muscular Dystrophy will be included in the study. We will include all Duchenne Muscular Dystrophy boys who have lost the ability to walk independently. * All patients in whom consent can be obtained will be enrolled with no exclusion criteria. Exclusion Criteria: * Patients lacking genetic confirmation of Duchenne Muscular Dystrophy * Patients still able to walk for more than 10 meters.MALE2024-10-18T00:00:002023-02-082024-04-102024-10-032024-04-162024-10-042022-08-302024-09-302025-12-30falseFalseFalseThe aims of the study are to prospectively collect information on several aspects of function in non-ambulant DMD patients by using a structured battery of tests including motor, respiratory and cardiac functionDuchenne Muscular Dystrophy;Natural History;Motor Function; Retardation250motor functionassessment of Upper Limb Motor function in all the patient at baseline, 6, 12 and 24 months24 monthsrespiratory functionAssessment of respiratory function, in particular Forced Vital Capacity at baseline, 6, 12 and 24 months in all the patients able to perform the test. Registration of need for ventilation and hours of ventilation needed at each assessment24 monthscardiac functionAssessment of ejection fraction through cardiac ultrasound at baseline and changes at follow up assessment at 6, 12 and 24 months24 monthsidentify patterns of severity and of progression related to differnt genotypesevaluation correlation genotype/phenotype24 monthsFalse835FalseFalseFalseTrue NCT06445985304633Lancashire Teaching Hospitals NHS Foundation TrustOTHERHydrotherapy in Duchenne Muscular Dystrophy (DMD)2024-05RECRUITINGThe goal of this clinical trial aims to establish if there are meaningful benefits to providing a hydrotherapy service for young people with Duchenne muscular dystrophy (DMD). The main aims are to: 1. to allocate a clinical physiotherapist to a project implementing hydrotherapy in young patients with DMD to establish whether there are meaningful benefits to their daily life. 2. to conduct patient and parent interviews to understand the barriers to completing a hydrotherapy intervention and ensure future research addresses meaningful outcomes for those with DMD.INTERVENTIONALInclusion Criteria: * Established diagnosis of Duchenne Muscular Dystrophy (either by genetics or muscle biopsy) * Between 6 and 25 years of age * On stable dose of steroids or not on steroids Exclusion Criteria: * Younger than 6 years, older than 25 years * Recent change in steroid dose, less than 3 months prior * Undertaking formal hydrotherapy supervised by physiotherapist on a regular basis (weekly or more frequent)MALE2024-10-18T00:00:002024-02-142024-05-312024-05-312024-06-062024-06-062022-11-022025-12-122025-12-12trueFalseFalseThe goal of this clinical trial aims to establish if there are meaningful benefits to providing a hydrotherapy service for young people with Duchenne muscular dystrophy (DMD). The main aims are to: 1. to allocate a clinical physiotherapist to a project implementing hydrotherapy in young patients with DMD to establish whether there are meaningful benefits to their daily life. 2. to conduct patient and parent interviews to understand the barriers to completing a hydrotherapy intervention and ensure future research addresses meaningful outcomes for those with DMD.Duchenne Muscular DystrophyNA44Body Mass via Bioelectrical impedance (BIA)Fat mass, body fat percentage and fat free mass will be measured using BIA (bioelectrical impedance). BIA has been validated in DMD and is accurate enough to measure longitudinal changes in body composition and muscle mass in this population24 weeksPain ScaleA pain map assessment of the topographic distribution of daily pain will also be competed, consistent with our previous work in DMD. Scale of 1-1024 weeksPedsQL QoL / DMD QoL - Quality of LifePedsQL QoL - Quality of Life for both participants, and the DMD-QoL Proxy for parents - Scale of 0-424 weeksUpper Limb StrengthUpper limb strength using grip and pinch measure using digital, handheld dynamometers North-Star24 weeksRange of MotionLimited ankle range of motion (ROM) Ankle plantarflexion-dorsiflexion (PF-DF ROM) will be assessed through a goniometer24 weeksPulmonary functionPulmonary function will be assessed using digital spirometry24 weeksFalse625FalseFalseFalseFalse NCT05160415EDG-5506-002Edgewise Therapeutics, Inc.INDUSTRYA Study of EDG-5506 in Adult Males With Becker Muscular Dystrophy2024-06COMPLETEDThe ARCH study is an open-label, single-center, Phase 1b study of sevasemtem (EDG-5506) to assess the safety and pharmacokinetics (PK) of sevasemten in adults with Becker muscular dystrophy (BMD). Sevasemten is an investigational product intended to protect and improve function of dystrophic muscle fibers.INTERVENTIONALInclusion Criteria: 1. Participants who have completed Study EDG-5506-001. 2. Participants who were not from Study EDG-5506-001 must meet the following: 1. Male sex at birth and aged 18 to 55 years inclusive at time of consent. 2. Documented dystrophin mutation with phenotype consistent with BMD. 3. Ambulatory at Screening (defined as ability to complete 100 meter \[m\] timed test, with or without assistance). 4. Body weight ≥ 50 kg at the Screening visit. 5. Body mass index (BMI) between 20 and 34 kg/m2 inclusive. Exclusion Criteria: 1. Receipt of oral corticosteroids for \>5 days in the previous 6 months at a dose of \>5 mg equivalent per day. Lower oral doses or inhaled/intranasal steroids are permitted. 2. Receiving moderate or strong cytochrome P450 CYP3A4 inhibitors or inducers. 3. Participation in any other investigational drug study or use of use of an investigational drug within 30 days or 5 half-lives (whichever is longer) of dosing in the present study. 4. Medical history or other medical or psychiatric condition including recent (within the past year) or active suicidal ideation/behavior or laboratory result or abnormality that may increase the risk of study participation or, in the Investigator's judgment, make the participant inappropriate for the study. Includes venous access that would be too difficult to facilitate repeated blood sampling.MALE2024-10-18T00:00:002021-12-022021-12-152024-06-122021-12-162024-06-142021-12-282024-03-012024-03-01trueTrueFalseThe ARCH study is an open-label, single-center, Phase 1b study of sevasemtem (EDG-5506) to assess the safety and pharmacokinetics (PK) of sevasemten in adults with Becker muscular dystrophy (BMD). Sevasemten is an investigational product intended to protect and improve function of dystrophic muscle fibers.Becker Muscular DystrophyPHASE112Incidence of AEs in those treated with sevasemten25 MonthsFrequency of AEs in those treated with sevasemten25 MonthsSeverity of AEs in those treated with sevasemten25 MonthsIncidence of treatment-emergent abnormal clinical chemistry test results24 MonthsIncidence of treatment-emergent abnormal hematology test results24 MonthsIncidence of treatment-emergent abnormal coagulation test results24 MonthsIncidence of treatment-emergent abnormal urinalysis test results24 MonthsNumber of participants with changes in clinical chemistry24 MonthsNumber of participants with changes in hematology24 MonthsNumber of participants with changes in coagulation24 MonthsNumber of participants with changes in urinalysis24 MonthsNumber of participants with changes in vital signs24 MonthsNumber of participants with changes in physical examination24 MonthsNumber of participants with changes in ECG PR Interval24 MonthsNumber of participants with changes in ECG QRS Interval24 MonthsNumber of participants with changes in ECG QT Interval24 MonthsNumber of participants with changes in ECG QTc Interval24 MonthsNumber of participants with changes in FVCAssessed by spirometry24 MonthsNumber of participants with changes in FEV1As assessed by spirometry24 MonthsFalse1855FalseFalseFalseFalse NCT00750685A-101-0501-8Mentor Worldwide, LLCINDUSTRYStudy of the Mentor Becker Expander/Breast Implant in Subjects Who Are Undergoing Primary Breast Reconstruction2018-05TERMINATEDThe purpose of this study is to determine the safety and effectiveness of the Becker Expander/Breast Implant in women who are undergoing primary breast reconstruction. Safety information on the rate of complications, such as infection will be collected, and used to help determine device safety. These implants are investigational devices. Approximately 300 patients at centers across the United States will be enrolled in this research study, by up to 30 sites. These patients will be implanted with Becker Expander/Breast Implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.INTERVENTIONALInclusion Criteria: Patients will be allowed to enter the study if the following inclusion criteria are met: * Subject is genetic female, 18 years of age or older * A candidate for primary breast reconstruction for cancer, trauma, surgical loss of breast tissue due to mastectomy, malignancy, contralateral post-reconstruction symmetry, or congenital deformity, including asymmetry * Signs the Informed Consent * Agrees to return device to Mentor if explant necessary * Agrees to comply with follow-up procedures, including returning for all follow-up visits Exclusion Criteria: Patients will not be allowed to enter the study if they have any of the following exclusion criteria: * Subject is pregnant * Has nursed a child within three months of study enrollment * Been implanted with any silicone implant other than breast implants (e.g. silicone artificial joints or facial implants) * Confirmed diagnosis of the following rheumatic diseases or syndromes: SLE, Sjogren's syndrome, scleroderma, polymyositis, or any connective tissue disorder, rheumatoid arthritis, crystalline arthritis, infectious arthritis, spondylarthropathies, any other inflammatory arthritis, fibromyalgia, or chronic fatigue syndrome * Currently has a condition that could compromise or complicate wound healing (except reconstruction subjects) * Infection or abscess anywhere in the body * Demonstrates tissue characteristics which are clinically incompatible with implant (e.g. tissue damage resulting from radiation, inadequate tissue, or compromised vascularity) * Possesses any condition, or is under treatment for any condition which, in the opinion of the investigator and/or consulting physicians(s), may constitute an unwarranted surgical risk * Anatomic or physiologic abnormality which could lead to significant postoperative adverse events * Demonstrates characteristics that are unrealistic/unreasonable with the risks involved with the surgical procedure * Premalignant breast disease without a subcutaneous mastectomy * Untreated or inappropriately treated breast malignancy, without mastectomy * Are HIV positive * Work for Mentor or the study doctor or are directly-related to anyone that works for Mentor or the study doctor * Implanted metal or metal devices, history of claustrophobia or other condition that would make a MRI scan prohibitive * Surgeon intending to use the device for tissue expansion onlyFEMALE2024-10-18T00:00:002008-09-092008-09-092018-05-072008-09-102018-05-082007-03-012014-03-042014-03-04falseThe purpose of this study is to determine the safety and effectiveness of the Becker Expander/Breast Implant in women who are undergoing primary breast reconstruction. Safety information on the rate of complications, such as infection will be collected, and used to help determine device safety. These implants are investigational devices. Approximately 300 patients at centers across the United States will be enrolled in this research study, by up to 30 sites. These patients will be implanted with Becker Expander/Breast Implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.Breast ReconstructionPHASE3315Safety will be determined by the incidence, severity, method of resolution, and duration for all adverse events on a per implant and per subject basis.10 yearsEffectiveness will be determined by changes in chest circumference and bra and cup size.10 yearsEffectiveness will also be determined by changes in validated Quality of Life instrument ratios.10 yearsFalse18FalseFalseFalseFalse NCT05110885MSLN1602610Bahçeşehir UniversityOTHERPublic AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices2021-11UNKNOWNThe addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.OBSERVATIONALInclusion Criteria: * All man and women 18-50 years old * Volunteering to participate in the study * Live in Turkey * Being able to read and understand survey questions Exclusion Criteria: * Refusal to participate * Cognitive impairment preventing understanding of the questionnaire and self-reportingALL2024-10-18T00:00:002021-10-082021-10-272021-11-082021-11-082021-11-102021-112022-012022-01falseFalseFalseThe addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial. In this study, researchers aim to measure the awareness level of SMA and DMD muscle diseases of individuals living in Turkey and to obtain information about their attitudes towards newborn and carrier screening and physiotherapy practices. Thus, this study aimed to determine the factors that affect people's views on this subject.Spinal Muscular Atrophy;Duchenne Muscular Dystrophy;Healthy Individuals200Awareness level of community on the SMA and DMD diseases.QuestionnaireDay 1.Attitudes of community towards SMA/DMD newborn screening and carrier screening.QuestionnaireDay 1.Public opinion towards the effectiveness of physiotherapy and rehabilitation on DMD/SMA.QuestionnaireDay 1.True1850FalseFalseFalseFalse NCT01386515999911177National Institutes of Health Clinical Center (CC)NIHThe Role of Family Functioning in Promoting Adaptation in Siblings of Individuals With Duchenne Muscular Dystrophy (DMD)2016-01-07TERMINATEDBackground: We want to learn more about the relationship between the way families function and how children adapt to having a sibling with Duchenne muscular dystrophy (DMD). What we learn will help us design better interventions for families. Objective: * To learn more about how families with an individual with DMD function. * To learn how siblings adapt in families with an individual with DMD. Eligibility: * One parent and one child, age 13-18, from a family where another child has DMD. * The parent and the child must be able to read and write English. Design: * One parent from each family will complete a survey about how family members communicate and relate with each other. The parent will also answer questions about the behavior of the child without DMD. This survey will take you about 40 minutes to complete. * One child from each family, either a boy or a girl, will also complete a survey. This survey asks about how he/she views him/herself. It also asks about how he/she interacts with peers and family members and how he/she behaves. The survey also asks how satisfied he/she is with how his/her family functions. This survey takes about 30 minutes to finish.OBSERVATIONAL* INCLUSION CRITERIA: Parents/Caregivers: * Parent or caregiver of child with DMD and child without DMD * Lives with child that does not have DMD * 18 or older * Reads/Writes English Siblings: * Sibling of child with DMD * Lives in same household as individual with DMD * 13-18 years of age * Reads/Writes EnglishALL2024-10-18T00:00:002011-06-302011-06-302019-12-112011-07-012019-12-122011-06-072016-01-07Background: We want to learn more about the relationship between the way families function and how children adapt to having a sibling with Duchenne muscular dystrophy (DMD). What we learn will help us design better interventions for families. Objective: * To learn more about how families with an individual with DMD function. * To learn how siblings adapt in families with an individual with DMD. Eligibility: * One parent and one child, age 13-18, from a family where another child has DMD. * The parent and the child must be able to read and write English. Design: * One parent from each family will complete a survey about how family members communicate and relate with each other. The parent will also answer questions about the behavior of the child without DMD. This survey will take you about 40 minutes to complete. * One child from each family, either a boy or a girl, will also complete a survey. This survey asks about how he/she views him/herself. It also asks about how he/she interacts with peers and family members and how he/she behaves. The survey also asks how satisfied he/she is with how his/her family functions. This survey takes about 30 minutes to finish.Genetic Disease;Communication33adaptation, behavior problems, self-concept, pro-social behaviorTrue13FalseFalseFalseFalse NCT039858784658-102-OLESarepta Therapeutics, Inc.INDUSTRYA Study to Evaluate Safety, Tolerability, and Efficacy of Eteplirsen in Participants With Duchenne Muscular Dystrophy (DMD) Who Have Completed Study 4658-102 (NCT03218995)2023-07TERMINATEDThe purpose of this extension study is to evaluate the ongoing safety and tolerability of additional treatment with eteplirsen administered once weekly by intravenous (IV) infusion in male participants with DMD who have successfully completed the 96-week eteplirsen Study 4658-102.INTERVENTIONALInclusion Criteria: * Participant successfully completes 96 weeks of treatment in Study 4658-102. Exclusion Criteria: * Participant has a prior or ongoing medical condition that, in the Investigator's opinion, could adversely affect the safety of the participant, or make it unlikely that the course of treatment or follow-up would be completed, or impair the assessment of study results. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002019-06-112019-06-112023-07-252019-06-142023-08-182019-06-262022-08-312022-08-31trueTrueFalseThe purpose of this extension study is to evaluate the ongoing safety and tolerability of additional treatment with eteplirsen administered once weekly by intravenous (IV) infusion in male participants with DMD who have successfully completed the 96-week eteplirsen Study 4658-102.Duchenne Muscular DystrophyPHASE215Number of Participants Experiencing Adverse Events (AEs)A summary of all Serious Adverse Events and Other Adverse Events (nonserious) regardless of causality is located in the 'Reported Adverse Events' section.Up to 162 weeksNumber of Participants Experiencing Death Due to Adverse EventsA summary of all deaths regardless of causality is located in the 'Reported Adverse Events' section.Up to 162 weeksNumber of Participants Experiencing Adverse Events of Special Interest (AESIs)AESIs were defined as any AE that was of scientific and medical concern specific to study treatment, for which ongoing and rapid communication by the Investigator to the sponsor was appropriate. AESIs included findings potentially indicative of hepatic and renal abnormalities, hypersensitivity, and thrombocytopenia. A summary of all Serious Adverse Events and Other Adverse Events (nonserious) regardless of causality is located in the 'Reported Adverse Events' section.Up to 162 weeksFalse25FalseFalseFalseFalse NCT00264888PTC124-GD-004-DMDPTC TherapeuticsINDUSTRYSafety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy2009-01COMPLETEDIn some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.INTERVENTIONALInclusion Criteria: * Diagnosis of DMD based on a clinical phenotype presenting by age 5, with increased serum CK and decrease of dystrophin on a muscle biopsy * Presence of a nonsense mutation in the dystrophin gene * Physical examination or radiographic imaging documenting the presence of EDB or TA muscles in both legs * Ability to ambulate, or if non-ambulatory, then not requiring ventilator support * Male sex * Age ≥ 5 years * Willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and follow-up periods in subjects known to be sexually active * Willingness and ability to comply with scheduled visits, drug administration plan, laboratory tests, study restrictions, and study procedures (including muscle biopsies, myometry, and PK sampling) * Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \<18 years of age) Exclusion Criteria: * Prior or ongoing medical condition (e.g., concomitant illness, psychiatric condition, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results * Clinical symptoms and signs of congestive cardiac failure * Positive hepatitis B surface antigen, hepatitis C antibody test, or human immunodeficiency virus (HIV) test * Hemoglobin \<10 g/dL * Serum albumin \<2.5 g/dL * Abnormal GGT or total bilirubin (\>laboratory's upper limit of normal) * Abnormal renal function (serum creatinine \>1.5 times laboratory's upper limit of normal) * History of solid organ or hematological transplantation * Ongoing immunosuppressive therapy (other than corticosteroids) * Exposure to another investigational drug within 28 days prior to start of study treatment * Ongoing participation in any other therapeutic clinical trial * Ongoing use of thiazolidinedione peroxisome proliferator-activated receptor gamma (PPAR γ) agonists, e.g., rosiglitazone (Avandia® or equivalent) or pioglitazone (Actos® or equivalent) * Change in systemic corticosteroid therapy (e.g., initiation of treatment; cessation of treatment; change in dose, schedule, or type of steroid) within 3 months prior to start of study treatment. * Treatment with systemic aminoglycoside antibiotics within 4 weeks prior to start of study treatmentMALE2024-10-18T00:00:002005-12-092005-12-092009-01-092005-12-132009-01-142005-122007-052007-05In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.Duchenne Muscular DystrophyPHASE238Dystrophin expression as assessed by immunofluorescence evaluation of tissue obtained by biopsy of the extensor digitorum brevis (EDB) muscle of the foot or tibialis anterior (TA) muscle of the legPresence of dystrophin mRNA and dystrophin-related proteins on EDB or TA muscle biopsy, muscle function, compliance with treatment, safety and PTC124 pharmacokineticsFalse5FalseFalseFalseTrue NCT03057002STU 102016-046University of Texas Southwestern Medical CenterOTHERUTSW HP [13-C] Pyruvate Injection in HCM2024-02RECRUITINGThe study objective is to identify the earliest changes in energy substrate metabolism in patients with cardiomyopathies (CMP). To achieve this objective, we plan first to test the hypothesis that patients with CMP present focal alterations in myocardial hyperpolarized \[1-13C\]pyruvate flux.OBSERVATIONALInclusion Criteria for Control Subjects: * Subjects who are 18. * Subjects who have the ability to understand and the willingness to sign a written informed consent. * While all races and ethnicities will be included, subjects must be able to read and speak the English language. Once the protocol is established, Spanish-speaking participants will be included. * Women of child-bearing potential must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) prior to study entry, for the duration of study participation. Should a woman become pregnant or suspect she is pregnant while participating in this study, she should inform her treating physician immediately. Inclusion Criteria for participants with Cardiomyopathy: * Subjects who are 18. * Subjects who have the ability to understand and the willingness to sign a written informed consent. * While all races and ethnicities will be included, subjects must be able to read and speak the English language. Once the protocol is established, Spanish-speaking participants will be included. * Women of child-bearing potential must agree to use adequate contraception (hormonal or barrier method of birth control; abstinence) prior to study entry and for the duration of study participation. Should a woman become pregnant or suspect she is pregnant while participating in this study, she should inform her treating physician immediately. Exclusion criteria: * Subjects who are receiving any other investigational agents. * Intercurrent illness including, but not limited to, ongoing or active infection, uncontrolled chronic diseases such as hypertension, lung disease, liver disease, kidney disease, diabetes, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situations that would limit compliance with study requirements. * Subjects who are taking thyroid hormone replacements, have a history of alcohol abuse or illicit drug use. * Subjects who have contraindication to contrast enhanced MRI examination. Contraindications to MRI examinations include: * Medically unstable * Acute Heart failure * Severe LVOT obstruction * Unstable angina * Child bearing * Lactating * Any contraindication per MRI Screening Form including * Implants contraindicated at 3Tesla, pacemakers * Implantable Cardioverter Defibrillator (ICD) * Claustrophobia * Since each subject is receiving a gadolinium based contrast agent intravenously: * eGFR ≤ 30 mL/min/1.73m2 * Sickle cell disease * Hemolytic anemiaALL2024-10-18T00:00:002017-01-102017-02-142024-02-012017-02-172024-02-052018-05-012024-11-082024-11-08falseTrueFalseThe study objective is to identify the earliest changes in energy substrate metabolism in patients with cardiomyopathies (CMP). To achieve this objective, we plan first to test the hypothesis that patients with CMP present focal alterations in myocardial hyperpolarized \[1-13C\]pyruvate flux.Cardiomyopathy, Hypertrophic;Dilated Cardiomyopathy;Duchenne Muscular Dystrophy;Cardiac Sarcoidosis;Becker Muscular Dystrophy;Heart Failure With Preserved Ejection Fraction;Heart Failure With Reduced Ejection Fraction128Hyperpolarized [1-13C]pyruvate fluxMeasurement of change in myocardial hyperpolarized \[1-13C\]pyruvate flux during Magnetic Resonance Spectroscopic Imaging.Screening (Baseline) and 1 day of Study VisitTrue1860FalseFalseFalseFalse NCT04585464EDG-5506-001Edgewise Therapeutics, Inc.INDUSTRYA Study to Assess Safety, Tolerability, and PK of EDG-5506 in Healthy Volunteers and Becker Muscular Dystrophy Adults2022-06COMPLETEDEDG-5506 is an investigational product intended to protect and improve function of dystrophic muscle fibers. This Phase 1 study of EDG-5506 will assess the safety, tolerability, and pharmacokinetics (PK) and of EDG-5506 in adult healthy volunteers and in adults with Becker muscular dystrophy (BMD).INTERVENTIONALInclusion Criteria: * For all potential participants (Healthy volunteers and BMD): Male or for HV: female. For all: adults aged 18 to 55 years at time of consent. * For HVs: Good general health, with no significant medical history, no clinically significant abnormalities on physical exam * For BMD: Diagnosis of BMD based on documentation of mutation(s) in the dystrophin gene and BMD phenotype * For BMD: Ability to ambulate * For all: Weight greater than or equal to 50 kg and BMI less than 33 kg/m2 * For HV: Females must be of non-childbearing potential. * For all: Males with female partners must use a medically accepted contraceptive regimen from first dose through 90 days after the last dose * For all: Non-smoker and must not have used any tobacco products within 3 months prior to the Screening visit. * For all: Able and willing to attend the necessary visits at the study center. Exclusion Criteria: * For all: History of, or physical exam findings indicating clinically significant endocrine, neurological, gastrointestinal, cardiovascular, hematological, hepatic, immunological, renal, respiratory, or genitourinary abnormalities or diseases that, in the opinion of the Investigator, would render the subject being unsuitable for the study. * For all: Unable to refrain from strenuous exercise for 3 days prior to check-in and during study. * For all: Participation in any other investigational drug study within 30 days or 5 half-lives (whichever is longer) of dosing in the present study.ALL2024-10-18T00:00:002020-10-022020-10-072022-06-272020-10-142022-06-282020-10-122021-11-152021-12-27trueTrueFalseEDG-5506 is an investigational product intended to protect and improve function of dystrophic muscle fibers. This Phase 1 study of EDG-5506 will assess the safety, tolerability, and pharmacokinetics (PK) and of EDG-5506 in adult healthy volunteers and in adults with Becker muscular dystrophy (BMD).Healthy Volunteer;Becker Muscular DystrophyPHASE1127Incidence, frequency, severity and dose-relationship of adverse eventsUp to 42 days of monitoringIncidence of abnormal laboratory test results (clinical chemistry, hematology, urinalysis, coagulation)Up to 42 days of monitoringIncidence of treatment-emergent clinically abnormal electrocardiogram (ECG)Up to 42 days of monitoringIncidence of abnormal vital signsUp to 42 days of monitoringIncidence of abnormal physical exam findingsUp to 42 days of monitoringPlasma maximum measured drug concentration (Cmax)Up to 42 days of testingTime of maximum concentration (Tmax)Up to 42 days of testingArea under the concentration-time curve (AUC)Up to 42 days of testingPlasma half-life (T½)Up to 42 days of testingRenal clearance (CLR)Up to 42 days of testingDrug excreted unchanged in urine (Amt0-24)Up to 42 days of testingFraction excreted in urine (Fe)Up to 42 days of testingTrue1855FalseFalseFalseFalse NCT06128564BN43881Hoffmann-La RocheINDUSTRYA Gene Delivery Study to Evaluate the Safety and Expression of Delandistrogene Moxeparvovec in Participants Under the Age of Four With Duchenne Muscular Dystrophy (DMD)2024-09RECRUITINGThis open-label, single-arm study will evaluate the safety and expression of delandistrogene moxeparvovec in participants with DMD. Participants will be in the study for approximately 264 weeks.INTERVENTIONALInclusion Criteria: * Cohort A: \>=3 years of age to \<4 years of age * Cohort B: \>=2 years of age to \<3 years of age * Cohort C: \>6 months to \<2 years of age * Cohort D: \<=6 months of age * Has a definitive diagnosis of DMD prior to screening based on documentation of clinical findings and prior confirmatory genetic testing using a clinical diagnostic genetic test * Able to cooperate with age-appropriate motor assessment testing * A pathogenic frameshift mutation or premature stop codon contained between exons 18 and 79 (inclusive) Exclusion Criteria: * Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression, within protocol-specified time limits * Recombinant Adeno-Associated Virus Serotype rh74 (rAArh74) antibody titers are elevated, as per protocol-specified criteria * Receiving regular oral corticosteroids as a treatment for DMD or planning to receive oral corticosteroids as a treatment for DMD within 1 year of baseline * Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer * Medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the participant's ability to comply with the protocol required testing or procedures, or compromise the participant's well-being or safety, or clinical interpretability Other inclusion or exclusion criteria could applyMALE2024-10-18T00:00:002023-11-082023-11-082024-09-192023-11-132024-09-202023-11-292032-11-302032-11-30trueTrueFalseThis open-label, single-arm study will evaluate the safety and expression of delandistrogene moxeparvovec in participants with DMD. Participants will be in the study for approximately 264 weeks.Duchenne Muscular DystrophyPHASE221Percentage of Participants with a Treatment-emergent Adverse Event (TEAE), Serious Adverse Event (SAE), and Adverse Event of Special Interest (AESI)Baseline up to Week 260Change in Quantity of Delandistrogene Moxeparvovec Dystrophin as Measured by Western BlotBaseline, Week 12False3FalseFalseFalseFalse NCT013887642011D001591Massachusetts General HospitalOTHERSafety, Tolerability and Effects of L-Arginine in Boys With Dystrophinopathy on Corticosteroids2012-06COMPLETEDThe purpose of the study is to assess the safety, tolerability, and effects of L-Arginine on muscles in boys with dystrophinopathy on corticosteroids. Specifically, to see if L-arginine reduces muscle signal abnormalities on MRI done pre and post 30 days of L-arginine administration.INTERVENTIONALInclusion Criteria: * Confirmation of diagnosis of dystrophinopathy, documented by clinical exam and dystrophin DNA mutation analysis * Ambulatory male subjects between the ages of 7-11 years * Stable dosage of corticosteroids for 3 months prior to entry (Screening/Baseline Day 0) and during treatment period * Able to follow instructions and give assent * Able to complete nonsedated MR Exclusion Criteria: * Presence of metallic orthopedic hardware in the lower extremity that could affect MRI/MRS measurements * Routine MRI exclusion criteria such as the presence of a pacemaker, cochlear implant, or cerebral aneurysm clip * Subjects not capable of cooperating during MR examination * Known hypersensitivity to L-arginine * Exposure to another investigational agent, investigational supplements, growth hormone within 3 months prior to entry (Screening/Baseline Day 0) or during treatment period * Subjects must not be taking L-arginine for at least 4 weeks prior to entry (Day 0) * Subjects who are non-ambulatory or with daytime ventilatory dependenceMALE2024-10-18T00:00:002011-07-052011-07-052012-06-302011-07-072012-07-032012-012012-052012-05falseThe purpose of the study is to assess the safety, tolerability, and effects of L-Arginine on muscles in boys with dystrophinopathy on corticosteroids. Specifically, to see if L-arginine reduces muscle signal abnormalities on MRI done pre and post 30 days of L-arginine administration.Dystrophinopathy;Duchenne Muscular Dystrophy;Becker's Muscular DystrophyPHASE17MRI/MRS of calf muscleMRI/MRS will be performed of the calf muscle in all subjects (N=8) to assess muscle signal abnormalities on MRI and creatine levels on MRS, done at the start of the study (Day 0) and at the end of the study (Day 30), after 30 days of L-arginine administration.Day 0 and Day 30Blood testsWe will obtain safety labs \[complete blood count (CBC) and comprehensive metabolic panel (CMP)\] from all subjects (N =8), at day 0 and day 30, after 30 days of oral L-argninine administration.Day 0 and Day 30Assessment of muscle strength and functionMeasurements of upper and lower extremity strength will be performed using a hand-held dynamometer. Functional tests will also be performed which include time to walk specified distances and time to climb stairs.Day 0 and Day 30Pulmonary function testsSubjects will have pulmonary function studies to assess forced vital capacityDay 0 and Day 30False711TrueFalseFalseFalse NCT05096221SRP-9001-301Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Participants With Duchenne Muscular Dystrophy (DMD)2023-11ACTIVE_NOT_RECRUITINGThe study will evaluate the safety and efficacy of gene transfer therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene transfer therapy at the beginning of the second year.INTERVENTIONALInclusion Criteria: * Is ambulatory and from 4 to under 8 years of age at time of randomization. * Definitive diagnosis of DMD based on documented clinical findings and prior genetic testing. * Ability to cooperate with motor assessment testing. * Stable daily dose of oral corticosteroids for at least 12 weeks prior to Screening, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight). * rAAVrh74 antibody titers are not elevated as per protocol-specified requirements. * A pathogenic frameshift mutation or premature stop codon contained between exons 18 and 79 (inclusive), with the exception of mutation fully contained within exon 45. Exclusion Criteria: * Exposure to gene therapy, investigational medication, or any treatment designed to increase dystrophin expression within protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. * Presence of any other clinically significant illness, medical condition, or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risk for gene transfer. Other inclusion or exclusion criteria could apply.MALE2024-10-18T00:00:002021-10-142021-10-142023-11-032021-10-272023-11-072021-10-272023-10-042024-11-30trueTrueFalseThe study will evaluate the safety and efficacy of gene transfer therapy in boys with DMD. It is a randomized, double-blind, placebo-controlled study. The participants who are randomized to the placebo arm will have an opportunity for treatment with gene transfer therapy at the beginning of the second year.Duchenne Muscular DystrophyPHASE3126Part 1: Change From Baseline in NSAA Total Score at Week 52Baseline, Week 52Part 1: Quantity of Delandistrogene Moxeparvovec Dystrophin Expression at Week 12 as Measured by Western Blot, in a Subset of ParticipantsWeek 12Part 1: Change From Baseline in Time to Rise From the Floor, Time to Complete 100 and 10 Meter Walk/Run, and the Timed Stair Ascend 4 Steps Test at Week 52Baseline, Week 52Part 1: Change From Baseline in Stride Velocity 95th Centile (SV95C) Measured by a Wearable DeviceBaseline, Week 52Part 1: Change from Baseline in Patient-Reported Outcomes Measurement Information System (PROMIS) Score in Mobility and Upper Extremity Function to Week 52PROMIS is a family of instruments developed and validated to assess health-related quality of life.Baseline, Week 52Part 1: Number of Skills Gained or Improved at Week 52 as Measured by the NSAABaseline, Week 52Number of Participants with a Treatment Emergent Adverse Event (TEAE), Serious Adverse Event (SAE), and Adverse Event of Special Interest (AESI)Baseline up to Week 104False47TrueFalseFalseFalse NCT05689164C3391011PfizerINDUSTRYA Study to Understand the Long-term Safety and Effects of an Experimental Gene Therapy for Duchenne Muscular Dystrophy.2024-02RECRUITINGThe purpose of this study is to understand the safety and effects of an experimental gene therapy called fordadistrogene movaparvovec. We are seeking participants from previous Pfizer interventional studies. We will follow participants' experience in this study for 10 years after the end of their previous study. Participants will have 1 annual onsite visit and a few annual remote visits. The exact number of remote visits will be decided by their study doctor.INTERVENTIONALInclusion Criteria: * Participants who received fordadistrogene movaparvovec in a previous Pfizer interventional study. Exclusion Criteria: * Investigator site staff directly involved in the study and their family membersMALE2024-10-18T00:00:002023-01-092023-01-092024-02-212023-01-192024-02-222023-03-132039-05-152039-05-15TrueFalseThe purpose of this study is to understand the safety and effects of an experimental gene therapy called fordadistrogene movaparvovec. We are seeking participants from previous Pfizer interventional studies. We will follow participants' experience in this study for 10 years after the end of their previous study. Participants will have 1 annual onsite visit and a few annual remote visits. The exact number of remote visits will be decided by their study doctor.Duchenne Muscular DystrophyPHASE3250Number of participants with serious adverse eventsAt least annually from 5 through 10 years after dosing in the interventional study.Percentage of participants with serious adverse eventsAt least annually from 5 through 10 years after dosing in the interventional study.Number of participants with adverse events considered related to treatmentAt least annually from 5 through 10 years after dosing in the interventional study.Percentage of particpants with adverse events considered related to treatmentAt least annually from 5 through 10 years after dosing in the interventional studyNumber of participants with malignancy adverse eventAt least annually from 5 through 10 years after dosing in the interventional studyNumber of participants with clinically significant findings in electrocardiogram (ECG) assessmentsAnnually from 5 through 10 years after dosing in the interventional study.Number of participants with clinically significant findings in cardiac troponin I laboratory examinationsAnnually from 5 through 10 years after dosing in the interventional studyNumber of participants with clinically significant findings in echocardiogram parametersAnnually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in the ability to walk 10 meters unassistedAnnually from 5 through 10 years after dosing in the interventional study.Change from pre-dose in the ability to climb stairs.Annually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in the Performance of Upper Limb (PUL) 2.0 entry scoreAnnually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in the North Star Ambulatory Assessment total scoreApplicable to a sub-set of participants onlyAnnually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in percent of predicted forced vital capacity (%pFVC) and percent predicted peak expiratory flow (%pPEF)Annually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in left ventricular ejection fraction (LVEF) on echocardiogramAnnually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in the Modified Pediatric Outcomes Data Collection InstrumentAnnually from 5 through 10 years after dosing in the interventional studyChange from pre-dose in the Upper Limb Function Patient Reported Outcome MeasureApplicable to non-ambulatory participants onlyAnnually from 5 through 10 years after dosing in the interventional studyAge when percent predicted forced vital capacity <30%Annually from 5 through 10 years after dosing in the interventional studyAge at loss of ambulationFrom 5 through 10 years after dosing in the interventional studyAge at deathFrom 5 through 10 years after dosing in the interventional studyCause of deathFrom 5 through 10 years after dosing in the interventional studyGlucocorticoid use dose and frequencyAt least annually from 5 through 10 years after dosing in the interventional studyFalse0FalseFalseFalseFalse NCT02958202BMN-044-201BioMarin PharmaceuticalINDUSTRYExtension Study of BMN 044 in Duchenne Muscular Dystrophy (DMD)2018-01TERMINATEDThe aim of this study is to provide continuing access to BMN 044 treatment for subjects previously treated with BMN 044. The information gained from this study is expected to further characterize the efficacy and safety of BMN 044 over a longer treatment period.INTERVENTIONALInclusion Criteria: * Subjects previously treated with BMN 044 or a comparator treatment in a BMN 044 Sponsored Study or Investigator Initiated Trial and who are not eligible for another ongoing BMN 044 study. * Continued use of glucocorticosteroids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on glucocorticosteroids for the duration of this study. * Willing and able to comply with all study requirements and procedures. * Willing and able to provide written, signed informed consent, or in the case of subjects under the age of 18 years(or 16 years, depending on the region), provide written assent (if required) and written informed consent by a legally authorized representative after the nature of the study has been explained, and prior to the conduct of any research-related procedures. Exclusion Criteria: * Subjects who have previously been treated with BMN 044 who had a serious adverse experience or met safety stopping criteria, that remains unresolved, which in the opinion of the Investigator could have been attributable to BMN 044. * History of significant medical disorder which may confound the interpretation of safety data * Acute illness within 4 weeks prior to the first dose of BMN 044 (Week 1) which may interfere with the measurements. * Symptomatic cardiomyopathy. * Baseline aPTT above the upper limit of normal (ULN). * Baseline platelet count below the lower limit of normal (LLN). * Use of anti coagulants, anti thrombotics or anti platelet agents within 28 days of the baseline visit. * Prior use of any investigational product (other than BMN 044) or investigational medical device must be discussed with the Medical Monitor prior to screening. * Current or history of drug and/or alcohol abuse.MALE2024-10-18T00:00:002016-10-272016-11-042018-01-232016-11-082018-01-262016-042016-092016-09trueThe aim of this study is to provide continuing access to BMN 044 treatment for subjects previously treated with BMN 044. The information gained from this study is expected to further characterize the efficacy and safety of BMN 044 over a longer treatment period.Duchenne Muscular DystrophyPHASE27Number of subjects with 1 or more treatment emergent adverse events following BMN044 dosingThrough study completion, an average of 1 yearFalse5FalseFalseFalseFalse NCT03333590GALGT2 Gene Therapy for DMDNationwide Children's HospitalOTHERGene Transfer Clinical Trial to Deliver rAAVrh74.MCK.GALGT2 for Duchenne Muscular Dystrophy2023-09ACTIVE_NOT_RECRUITINGThe proposed clinical trial study of rAAVrh74.MCK.GALGT2 for duchenne muscular dystrophy (DMD) patients. There will be a modified intravascular limb infusion (ILI) procedure that will be used to sequentially deliver vector to each whole lower limb of DMD subjects via a major lower limb artery.INTERVENTIONALInclusion Criteria * Ambulant patients age 4 years or older * Confirmed mutations in the DMD gene using a clinical accepted technique that completely defines the mutation 1,2 * • Measurably impaired muscle function (defined as less than 80% of the predicted value for 100 MWT), but with sufficient muscle preservation to ensure assessment of muscle transfection based on clinical evaluation by the PI and expert colleagues. This degree of preservation will include: * Ability to extend the knee fully against gravity * Preserved ambulation with ability to walk ≥ 350 meters during the 6MWT * A magnetic resonance image of the quadriceps showing preservation of sufficient muscle mass to permit transfection * Males of any ethnic group will be eligible * Ability to cooperate with muscle testing * Stable daily dose of corticosteroid therapy (including either prednisone, prednisolone, deflazacort or their generic forms) for 12 weeks prior to gene transfer Exclusion Criteria * Active viral infection based on clinical observations * The presence of a DMD mutation without weakness or loss of function * Subject is amenable to or is currently being treated with eteplirsen * Symptoms or signs of cardiomyopathy, including: * Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs * Echocardiogram with ejection fraction below 40% * Serological evidence of HIV infection, or Hepatitis B or C infection * Diagnosis of (or ongoing treatment for) an autoimmune disease * Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \< 1.5K/µL * Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer * Subjects with rAAVrh74 binding antibody titers ≥ 1:50 as determined by ELISA immunoassay * Presence of circulating anti-Sda antibodies as determined by study approved laboratory * Abnormal laboratory values in the clinically significant range, based upon normal values in the Nationwide Children's Hospital LaboratoryMALE2024-10-18T00:00:002017-11-012017-11-032023-09-122017-11-072023-09-142017-11-062020-11-042023-10TrueFalseThe proposed clinical trial study of rAAVrh74.MCK.GALGT2 for duchenne muscular dystrophy (DMD) patients. There will be a modified intravascular limb infusion (ILI) procedure that will be used to sequentially deliver vector to each whole lower limb of DMD subjects via a major lower limb artery.Duchenne Muscular DystrophyPHASE1PHASE22Number of Unanticipated Grade III or Higher Treatment-Related Toxicities2 yearsExpression of GALGT2 as Demonstrated by Immunofluorescent Staining With Anti-CT Epitope Antibodies or WFA Lectin in Muscle Biopsy Sections at 120 Days Post Injection (Cohort 1) and 90 Days Post-injection (Cohort 2).Percentage of fibers expressing GALGT2 in each biopsy sample.Day 90 (Cohort 2) and Day 120 (Cohort 1)GALGT2 Protein Expression Quantified by Western Blot and Assessed by Densitometry in Muscle Biopsy Tissue at 120 Days Post-injection (Cohort 1) and 90 Days Post-injection (Cohort 2)Day 90 (Cohort 2) and Day 120 (Cohort 1)False4TrueFalseFalseFalse NCT03335384STUDY00001062University of MinnesotaOTHERRelationship Between PFTs and Pdi in DMD2018-05WITHDRAWNA cross-sectional study to explore the relationship between clinically assessed pulmonary function test (PFT) measures and transdiaphragmatic (Pdi) measures in Duchenne muscular dystrophy (DMD) as well as to explore the relationship between sniff nasal inspiratory pressure (SNIP) and transdiaphragmatic (Pdi) measures in Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: * Clinical diagnosis of Duchenne muscular dystrophy Exclusion Criteria: * Inability to follow verbal instructionsMALE2024-10-18T00:00:002017-10-122017-11-022018-05-082017-11-072018-05-142018-05-012018-052018-05trueFalseTrueA cross-sectional study to explore the relationship between clinically assessed pulmonary function test (PFT) measures and transdiaphragmatic (Pdi) measures in Duchenne muscular dystrophy (DMD) as well as to explore the relationship between sniff nasal inspiratory pressure (SNIP) and transdiaphragmatic (Pdi) measures in Duchenne muscular dystrophy.Duchenne Muscular DystrophyNA0Evaluation of PdiFor all subjects Pdi (transdiaphragmatic pressure measures) will be assessed with gastric and esophageal balloons1 yearEvaluation of SNIPFor all subjects, SNIP (sniff nasal inspiratory pressures) will be assessed with a nasal pressure transducer1 yearEvaluation of FVCFor all subjects, FVC (forced vital capacity) will be assessed with spirometry1 yearEvaluation of FEV1For all subjects, FEV1 (forced expiratory volume in 1 second) will be assessed with spirometry1 yearEvaluation of FEFmaxFor all subjects, FEFmax (maximal forced expiratory flow) will be assessed with spirometry1 yearEvaluation of FEF25-75For all subjects, FEF25-75 (the average forced expiratory flow during the mid (25 - 75%) portion of the FVC) will be assessed with spirometry1 yearEvaluation of FEF50For all subjects, FEF50 (forced expiratory flow at 50% of FVC) will be assessed with spirometry1 yearEvaluation of MIPFor all subjects, MIP (maximal inspiratory pressure) will be assessed with spirometry1 yearEvaluation of MEPFor all subjects, MEP (maximal expiratory pressure) will be assessed with spirometry1 yearFalse625FalseFalseFalseFalse NCT03362502C3391001PfizerINDUSTRYA Study to Evaluate the Safety and Tolerability of PF-06939926 Gene Therapy in Duchenne Muscular Dystrophy2024-05ACTIVE_NOT_RECRUITINGThis is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory and non-ambulatory subjects with Duchenne muscular dystrophy (DMD). Other objectives include measurement of dystrophin expression and distribution, and assessments of muscle strength, quality, and function. A total of approximately 22 subjects will receive PF-06939926, and these will include both ambulatory and non-ambulatory subjects. Up to 13 subjects may be included in a cohort that includes the concomitant medication, sirolimus. In order to mitigate unanticipated risks to subject safety, enrollment will be staggered within and between two planned dose-levels and will include a formal review by an external data monitoring committee (E-DMC) prior to dose progression.INTERVENTIONALInclusion Criteria: * Age as follows, based on ambulatory status: * FOR AMBULATORY PARTICIPANTS, defined as the ability to walk at least 10 meters unassisted: Between 4 and 12 years, inclusive, * FOR NON-AMBULATORY PARTICIPANTS, defined as the inability to walk at least 10 meters unassisted: No age restrictions so long as loss of ambulation occurs prior to the subject's 17th birthday; * Diagnosis of Duchenne muscular dystrophy confirmed by medical history and genetic testing; * Receipt of glucocorticoids for 6 months and a stable daily dose for at least 3 months prior to study entry; * Ability to tolerate magnetic resonance imaging (MRI) without sedation and with no contraindications to these procedures; * Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures; * Body weights as follows, based on ambulatory status: * FOR AMBULATORY PARTICIPANTS: Between 15 kg and 50 kg, * FOR NON-AMBULATORY PARTICIPANTS: Less than 75 kg, but which may be managed or adjusted to a lower limit, especially to ensure participant safety; * Functional performance as follows, based on ambulatory status: * FOR AMBULATORY PARTICIPANTS: Ability to rise from floor within seven (7) seconds, * FOR NON-AMBULATORY PARTICIPANTS: Percent predicted forced vital capacity greater than 40% as part of pulmonary function tests, as well as adequate upper limb function. Exclusion Criteria: * Receipt of live attenuated vaccination within 3 months prior to receiving PF-06939926 or exposure to an influenza (or other inactivated) vaccination or systemic antiviral and/or interferon therapy within 30 days prior to receipt of PF-06939926; * Prior exposure to any gene therapy agent, including exon-skipping agents; * Exposure to other investigational drugs within 30 days or 5 half-lives, whichever is longer; * Neutralizing antibodies (NAb) against adeno-associated virus, serotype 9 (AAV9); * Compromised cardiac function as indicated by left ventricular ejection fraction on cardiac MRI, as follows, based on ambulatory status: * FOR AMBULATORY PARTICIPANTS: Less than 55%, * FOR NON-AMBULATORY PARTICIPANTS: Less than 35%; * Inadequate hepatic or renal function or risk factors for autoimmune disease on screening laboratory assessments. * The following genetic abnormalities in the dystrophin gene as confirmed by the investigator based on the review of the DMD genetic testing: 1. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR 2. A deletion that affects both exon 29 and exon 30. Sirolimus Cohort Inclusion Criteria * \> 8 years of age Exclusion Criteria * Hypersensitivity to sirolimus or intolerance to soy, including a history of angioedema * Concomitant use with strong CYP3A4/P-gp inducers or inhibitorsMALE2024-10-18T00:00:002017-11-292017-11-292024-05-172017-12-052024-09-202018-01-232022-03-282026-03-30trueTrueFalseThis is a first-in-human/first-in-patient, multi-center, open-label, non-randomized, ascending dose, safety and tolerability study of a single intravenous infusion of PF-06939926 in ambulatory and non-ambulatory subjects with Duchenne muscular dystrophy (DMD). Other objectives include measurement of dystrophin expression and distribution, and assessments of muscle strength, quality, and function. A total of approximately 22 subjects will receive PF-06939926, and these will include both ambulatory and non-ambulatory subjects. Up to 13 subjects may be included in a cohort that includes the concomitant medication, sirolimus. In order to mitigate unanticipated risks to subject safety, enrollment will be staggered within and between two planned dose-levels and will include a formal review by an external data monitoring committee (E-DMC) prior to dose progression.Duchenne Muscular DystrophyPHASE122Number of Participants With All-Causality Treatment-Emergent Adverse Events (TEAEs) for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a treatment-emergent AE (TEAE). A serious AE (SAE) was an untoward medical occurrence that resulted in death, was life-threatening (immediate risk of death), required in-patient hospitalization or prolongation of existing hospitalization, resulted in persistent or significant disability/incapacity, resulted in congenital anomaly/birth defect, or was considered to be an important medical event. Severe AE=an event that prevents normal everyday activities.Baseline up to 1 year post dose of PF-06939926Number of Participants With All-Causality TEAEs by System Organ Class (SOC) and Preferred Term (PT) for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a TEAE. For this outcome measure, TEAEs were reported according to Medical Dictionary for Regulatory Activities (MedDRA) version 25.0 SOC and PT.Baseline up to 1 year post dose of PF-06939926Number of Participants With Treatment-Related TEAEs for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a TEAE. An SAE was an untoward medical occurrence that resulted in death, was life-threatening (immediate risk of death), required in-patient hospitalization or prolongation of existing hospitalization, resulted in persistent or significant disability/incapacity, resulted in congenital anomaly/birth defect, or was considered to be an important medical event. Severe AE=an event that prevents normal everyday activities. Treatment-related AE was any untoward medical occurrence attributed to study treatment in a participant who received study treatment. Treatment-related AEs and SAEs were determined by the investigator.Baseline up to 1 year post dose of PF-06939926Number of Participants With Treatment-Related TEAEs by SOC and PT for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a TEAE. For this outcome measure, TEAEs were reported according to MedDRA version 25.0 SOC and PT. Treatment-related AE was any untoward medical occurrence attributed to study treatment in a participant who received study treatment. Treatment-related AEs were determined by the investigator.Baseline up to 1 year post dose of PF-06939926Number of Participants With All-Causality SAEs by SOC and PT for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a TEAE. An SAE was an untoward medical occurrence that resulted in death, was life-threatening (immediate risk of death), required in-patient hospitalization or prolongation of existing hospitalization, resulted in persistent or significant disability/incapacity, resulted in congenital anomaly/birth defect, or was considered to be an important medical event. For this outcome measure, TEAEs were reported according to MedDRA version 25.0 SOC and PT.Baseline up to 1 year post dose of PF-06939926Number of Participants With Treatment-Related SAEs by SOC and PT for 1-Year Follow-UpAn AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Any AE that started following start of treatment of PF-06939926 was counted as a TEAE. An SAE was an untoward medical occurrence that resulted in death, was life-threatening (immediate risk of death), required in-patient hospitalization or prolongation of existing hospitalization, resulted in persistent or significant disability/incapacity, resulted in congenital anomaly/birth defect, or was considered to be an important medical event. Treatment-related AE was any untoward medical occurrence attributed to study treatment in a participant who received study treatment. Treatment-related AEs and SAEs were determined by the investigator. For this outcome measure, TEAEs were reported according to MedDRA version 25.0 SOC and PT.Baseline up to 1 year post dose of PF-06939926Number of Participants With Laboratory Test Abnormalities Without Regard to Baseline Abnormality for 1-Year Follow-Up - HematologyFollowing hematologic parameters were analyzed for laboratory examination: hemoglobin, hematocrit, red blood cell (RBC) count, platelet count, white blood cell count, total neutrophils, absolute neutrophils (ANC), eosinophils, monocytes, basophils, lymphocytes, red blood cell indices, and haptoglobin. Laboratory abnormalities with occurrence in at least 1 participant are reported for this outcome measure. Baseline was defined as the last pre-dose measurement.Baseline up to 1 year post dose of PF-06939926Number of Participants With Laboratory Test Abnormalities Without Regard to Baseline Abnormality for 1-Year Follow-Up - Clinical ChemistryFollowing parameters for clinical chemistry were analyzed for laboratory examination: blood urea nitrogen (BUN) and creatinine, glucose, calcium, sodium, potassium, chloride, total CO2 (bicarbonate), aspartate aminotransferase (AST), alanine aminotransferase (ALT), total bilirubin (direct and indirect bilirubin), alkaline phosphatase, uric acid, albumin, total protein, serum phosphorus, cystatin C, creatine kinase, creatine kinase myocardial b fraction (CK-MB), amylase, lipase, gamma-glutamyl transferase (GGT), C-reactive protein (CRP), and cardiac troponin I. Laboratory abnormalities with occurrence in at least 1 participant are reported for this outcome measure. Baseline was defined as the last pre-dose measurement.Baseline up to 1 year post dose of PF-06939926Number of Participants With Laboratory Test Abnormalities Without Regard to Baseline Abnormality for 1-Year Follow-Up - UrinalysisFollowing parameters for urinalysis were analyzed for laboratory examination: pH, glucose, protein, blood, ketones, nitrites, leukocyte esterase, and microscopy. Laboratory abnormalities with occurrence in at least 1 participant are reported for this outcome measure. Baseline was defined as the last pre-dose measurement.Baseline up to 1 year post dose of PF-06939926Change From Baseline on Left Ventricular Ejection Fraction as Measured by Cardiac Magnetic Resonance Imaging (MRI) for 1-Year Follow-UpCardiac MRI was performed after thigh and upper limb MRI or on separate days within the required visit window. Change in LVEF is presented as percentages, and was calculated as \[(stroke volume) / (end-diastolic volume)\]\*100%. Baseline is defined as the last pre-dose measurement. Change from baseline on Day 360 (ie, 1 year post dose) was reported for this outcome measure.Baseline, 1 year post dose of PF-06839926 (Day 360)Number of Participants With Electrocardiograms (ECGs) Meeting the Pre-Defined Categorical Criteria for 1-Year Follow-UpTriplicate ECG was performed after the participant had rested quietly for at least 10 minutes in a supine position. The pre-defined categorical criteria include PR interval aggregate (msec): value\>=300, baseline\>200 and percent change\>=25%, baseline\<=200 and percent change\>=50%; QRS duration aggregate (msec): value\>=140, percent change\>=50%; QTcF interval aggregate (msec): 450\<=value\<480, 480\<=value\<500, value\>=500, 30\<=change\<60, change\>=60. Only the category(ies) with at least 1 participant meeting the pre-defined criterion is/are reported for this outcome measure. Baseline for ECG was defined as the measurement before the Day 1 study drug administration.Baseline up to 1 year post dose of PF-06939926Number of Participants With Positive Responses on Columbia-Suicide Severity Rating Scale (C-SSRS) According to the Columbia Classification Algorithm of Suicide Assessment (C-CASA) CategoriesC-SSRS is a participant rated questionnaire to assess whether participant experienced the following: completed suicide(1), suicide attempt(2)("Yes" on "actual attempt"), preparatory acts toward imminent suicidal behavior(3)("Yes" on "preparatory acts or behavior"), suicidal ideation(4)("Yes" on "wish to be dead","non-specific active suicidal thoughts","active suicidal ideation with methods without intent to act or some intent to act, without specific plan or with specific plan and intent), any suicidal behavior or ideation, self-injurious behavior(7)("Yes" on "Has subject engaged in non-suicidal self-injurious behavior"). Yes/No responses are mapped to C-CASA categories. C-SSRS was conducted with the participant's care giver/legal guardian on the participant's behalf throughout the study for participants\<=12 years of age at screening. Baseline is defined as the last predose measurement. Number of participants with responses of "Yes" is reported for this outcome measure.Baseline, Day 7, Day 14, Day 180, and Day 360Number of Participants With Vital Signs Meeting the Pre-Defined Categorical Criteria for 1-Year Follow-UpVital signs consisted of blood pressure, respiratory rate, and heart rate, was obtained with these measurements at the following timepoints: within 30 minutes before and approximately 30 minutes, 1, 2, 4, 8, and 24 hours after the start of the infusion, and on Days 4, 7, 10, 14, 30, 90, 180, and 360. Baseline was defined as the last pre-dose recording. Number of participants who had at least 1 vital sign measurement at the specified timepoints meeting the pre-defined criteria from baseline up to the end of 1-year follow-up is reported for this outcome measure.Baseline up to 1 year post dose of PF-06939926False4FalseFalseTrueTrue NCT01918384NPC-14-1Kobe UniversityINDUSTRYPhase II Study of NPC-14 (Arbekacin Sulfate) to Explore Safety, Tolerability, and Efficacy in Duchenne Muscular Dystrophy2015-09UNKNOWNDuchenne Muscular Dystrophy (DMD) is inherited neuromuscular disorders due to mutation in the gene that encodes critical muscle protein called dystrophin. Currently, there is no effective treatment option for the disease. A pharmacological approach by promoting mRNA translation regardless of the presence of premature stop codons by nonsense mutation, called the readthrough strategy, has been developing recently for DMD with nonsense mutation. NPC-14 is a candidate compound for the readthrough strategy, since effective readthrough activities were demonstrated in nonclinical studies. This study is a phase II study designed to assess safety, tolerability, and efficacy of NPC-14 in ambulant DMD patients with nonsense mutation that were confirmed by whole genome analysis. These goals will be accomplished by monitoring adverse events by physical examination, cardiac, pulmonary, auditory, balance, and laboratory tests as safety endpoints, and dystrophin expression in muscle biopsy as primary efficacy endpoint, muscle function (NSAA, timed test, muscle strength (QMT, MMT) , dairy activities by lifecorder), and biomarkers as secondary efficacy endpoints. The study is a randomized, double blind, placebo-controlled study in 21 DMD patients. After screening, eligible patients are allocated dynamically to weekly NPC-14 or a placebo (saline) in a 2:1 ratio and will receive study drugs for 36 weeks.INTERVENTIONALInclusion Criteria: 1. Diagnosis of DMD resulting from a nonsense mutation by whole genome sequencing of the dystrophin gene 2. To have intact right or left biceps muscles, or an alternative muscle group that is able to be underwent for appropriate evaluation of efficacy 3. To meet the following criteria at screening (baseline visit), within 30 days prior to the first dose of study drug * Ambulant and able to walk at least 75 meters during the 6MWT * Able to comply with and complete all protocol requirements, and judged by the investigator to be appropriate to participate in the study from the screening results 4. Aged at least 4 years at the time of giving informed consent 5. Male 6. Able to be hospitalized for the study requirement 7. Signed Informed consent by parents/legal guardian and/or signed assent by the subject (age of assent to be determined by IRB) Exclusion Criteria: 1. Prior exposure to investigational medicines that have a potential of restoring dystrophin or other functional protein (readthrough, exon skipping, utrophin upregulation therapy etc.) 2. Known mutation at nucleotide 1555 in 12S rRNA gene of mitochondrial DNA, and/or personally or families have been treated or have a history of eight cranial nerve disorder （hearing loss、vertigo、tinnitus etc.）as a result of aminoglycoside use 3. Inability to hear within the range of 0 to 25 dB by pure tone audiometry, abnormalities on auditory brainstem response audiometry, and/or loss of frequency by distortion product oto acoustic emissions at screening 4. Poor oral intake or enable to oral intake, and/or bad general status 5. Known allergies to NPC-14, other aminoglycosides, and/or bacitracin 6. Presence of anti-dystrophin antibody at the baseline assessments 7. Cys-C ≥1.2 mg/L and/or creatinine concentration \>1.5 times the upper limit of age corrected normal range 8. Left ventricular ejection fraction (EF) \<40% or left ventricular fractional shortening (FS) \<25%, and/or ≥480 msec QTc (corrected QT interval by Fridericia's method) 9. Need of mechanical ventilation 10. Forced vital capacity (FVC) \<50% predicted 11. Clinically significant concomitant diseases (hematology, psychoneurotic, hepatic, pulmonary, endocrine, immune, renal, and gastroenterological diseases), and/or cancer 12. Impairment of intellectual functions, and/or expressive language ability which might interfere with study assessments 13. Treatment with other systemic aminoglycoside within 6 months prior to the first administration of study drug 14. Initiation of systemic glucocorticosteroids treatment, and/or start exercise cure, physical therapy, or occupational therapy which might interfere with study assessments. Changing of dose and schedule of systemic glucocorticosteroids within 6 months prior to the first administration of study drug 15. History of any surgical procedure within months prior to the first administration of study drug or have a plan during study 16. History of sever allergy from food and medicine like an anaphylaxis shock or generalized rash 17. Participation in any other clinical trial and intake of any investigational drug within 6month of study entryMALE2024-10-18T00:00:002013-08-012013-08-052015-09-022013-08-072015-09-032013-082015-102015-10trueDuchenne Muscular Dystrophy (DMD) is inherited neuromuscular disorders due to mutation in the gene that encodes critical muscle protein called dystrophin. Currently, there is no effective treatment option for the disease. A pharmacological approach by promoting mRNA translation regardless of the presence of premature stop codons by nonsense mutation, called the readthrough strategy, has been developing recently for DMD with nonsense mutation. NPC-14 is a candidate compound for the readthrough strategy, since effective readthrough activities were demonstrated in nonclinical studies. This study is a phase II study designed to assess safety, tolerability, and efficacy of NPC-14 in ambulant DMD patients with nonsense mutation that were confirmed by whole genome analysis. These goals will be accomplished by monitoring adverse events by physical examination, cardiac, pulmonary, auditory, balance, and laboratory tests as safety endpoints, and dystrophin expression in muscle biopsy as primary efficacy endpoint, muscle function (NSAA, timed test, muscle strength (QMT, MMT) , dairy activities by lifecorder), and biomarkers as secondary efficacy endpoints. The study is a randomized, double blind, placebo-controlled study in 21 DMD patients. After screening, eligible patients are allocated dynamically to weekly NPC-14 or a placebo (saline) in a 2:1 ratio and will receive study drugs for 36 weeks.Muscular Dystrophy, DuchennePHASE221Safety and tolerability (Adverse events)Up to 38 weeks (36 weeks treatment period and 2 weeks follow up period)Change of dystrophin expression rate in muscle tissues from the baseline assessmentAt 37 weeks (1 week after from 36 weeks treatment period)North Star Ambulatory AssessmentAt 36 weeksTimed test (6MWT, time to walk/run 10 meters, time to climb/descent four steps, time to rise from the floor)At 36 weeksMuscle strength (MMT, QMT)At 36 weeksDairy activitiesAt 36 weeksBiomarkers (CK, ALD)At 36 weeksFalse4FalseFalseTrueFalse NCT02525302HALO-DMD-03Akashi TherapeuticsINDUSTRYHT-100 Long-term Study in DMD Patients Who Completed HALO-DMD-022019-03TERMINATEDThis study, HALO-DMD-03, is a follow-on study to HALO-DMD-01 and HALO-DMD-02, and allows continued open-label access to HT-100 for subjects who have completed these studies. HALO-DMD-03 will provide safety and strength and function data on continuous long-term dosing. Data from this study will be used to inform the safety, tolerability, and dose selection for a future trial of HT-100 in boys with Duchenne Muscular Dystrophy (DMD).INTERVENTIONALInclusion Criteria: 1. Completed both previous studies HALO-DMD-01 and HALO-DMD-02 2. Ability to provide written informed consent 3. Ability to understand and follow site and protocol instruction for the entire duration of the study Exclusion Criteria: Answering yes to any of the following make the subject NOT eligible to participate in the study. 1. Clinically significant major disease not related to DMD that would make it not safe to be in the study or affect ability to follow the protocol 2. History of severe allergic or anaphylactic reactions 3. Recent report of drug/alcohol abuseMALE2024-10-18T00:00:002015-07-182015-08-142019-03-082015-08-172019-03-122015-052016-12-302016-12-30trueThis study, HALO-DMD-03, is a follow-on study to HALO-DMD-01 and HALO-DMD-02, and allows continued open-label access to HT-100 for subjects who have completed these studies. HALO-DMD-03 will provide safety and strength and function data on continuous long-term dosing. Data from this study will be used to inform the safety, tolerability, and dose selection for a future trial of HT-100 in boys with Duchenne Muscular Dystrophy (DMD).Duchenne Muscular DystrophyPHASE210Number of adverse events by severity and relationshipEvery 6 months from enrollment for up to 3 yearsDose reduction or modification due to upper GI or other adverse eventsEvery 6 months from enrollment for up to 3 yearsTrial discontinuations due to upper GI or other AEsEvery 6 months from enrollment for up to 3 yearsVital signs (Number of subjects with clinically significant changes)Number of subjects with clinically significant changesEvery 6 months from enrollment for up to 3 yearsLaboratory values (Number of subjects with clinically significant changes)Number of subjects with clinically significant changes.Every 6 months from enrollment for up to 3 yearsElectrocardiogramsNumber of subjects with clinically significant changes in QT intervalEvery 6 months from enrollment for up to 3 yearsEchocardiogramsNumber of subjects with clinically significant changes in left ventricular ejection fraction, end systolic and diastolic interventricular septal thickness, left ventricular posterior wall thicknessEvery 6 months from enrollment for up to 3 yearsCardiovascular Magnetic ResonanceNumber of subjects with clinically significant change in diagnostic interpretationEvery 6 months from enrollment for up to 3 yearsCardiovascular Magnetic ResonanceCircumferential strain and myocardial fibrotic areasEvery 6 months from enrollment for up to 3 yearsPulmonary function testing (Number of subjects with clinically significant changes)Number of subjects with clinically significant changes.Every 6 months from enrollment for up to 3 yearsMotor function measure (MFM) scaleEvery 6 months from enrollment for up to 3 yearsPerformance of upper limb (PUL) scaleEvery 6 months from enrollment for up to 3 yearsBiomarkers of extracellular matrix turnover (Number of subjects with clinically significant changes)Number of subjects with clinically significant changes.Every 6 months from enrollment for up to 3 yearsQuantitative muscle testing (QMT) scoresEvery 6 months from enrollment for up to 3 yearsTimed function tests (TFTs)Every 6 months from enrollment for up to 3 yearsMotor Function Measure (MFM)Every 6 months from enrollment for up to 3 yearsUpper extremity function (proximal, mid-range, and distal) by Performance of Upper Limb (PUL)Every 6 months from enrollment for up to 3 years9-hole peg testAssessment of upper limb function and dexterityEvery 6 months from enrollment for up to 3 yearsTip pinch and key pinch tests (Number of subjects with clinically significant changes)Number of subjects with clinically significant changes.Every 6 months from enrollment for up to 3 yearsElectrical impedance myography (EIM) scoreEvery 6 months from enrollment for up to 3 yearsFalse620FalseFalseFalseFalse NCT01523964CMD-001Dart Therapeutics. LLCOTHERDART Electrical Impedance Myography (EIM) Trial in Duchenne Muscular Dystrophy (DMD) and Healthy Controls2013-10COMPLETEDPhysicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance Myography (EIM) has the potential to serve as a non-invasive, quantifiable, diagnostic tool for neuromuscular disease. If successful, these devices will allow for improved ability to diagnose neuromuscular disease and to assess disease progression or remission, allowing for better care of individual patients as well as for use in clinical trials, where improved outcome measures for neuromuscular diseases is being sought.INTERVENTIONALInclusion Criteria: DMD Subject Cohorts * Male subjects * Subjects with a chronologic age of 3 to 7 years inclusive for Cohort A, and 8 to 12 years inclusive for Cohort B * Subjects with DMD diagnosed with mutational testing and/or absence of dystrophin on muscle biopsy * Subjects with proximal pelvic girdle weakness (Gower's maneuver, difficulty with arising from floor and going up steps) * Subjects who can walk 10 meters unassisted (ie, without braces, canes, or other aids) * Subjects who are taking systemic corticosteroids and/or any other medication which, in the judgment of the investigator, could impact muscle strength or physical activity levels, must be on a stable dose for at least 4 weeks prior to initiation of study measurements * Subjects who provide assent, as stipulated by IRB requirements, and whose parent/guardian signs an informed consent form * Subjects who are willing and able to cooperate and comply with all protocol requirements and procedures Healthy Control Cohort * Healthy males with normal neuromuscular examination * Subjects with a chronologic age of 3 to 7 years inclusive for Cohort C, and 8 to 12 years inclusive for Cohort D * Subjects who provide assent, as stipulated by IRB requirements, and whose parent/guardian signs an informed consent form * Subjects who are willing and able to cooperate and comply with all protocol requirements and procedures Exclusion Criteria: * Subjects with daytime ventilatory dependence (non-invasive or tracheostomy) * Subjects enrolled in a DMD therapeutic clinical trial concomitantly or within the past 4 weeks * Subjects with any physical or mental condition which may, in the investigator's opinion, render the subject unable to complete the tasks of the study appropriatelyMALE2024-10-18T00:00:002012-01-302012-01-312013-10-162012-02-012013-12-092012-022012-082012-08falsePhysicians seek a method to assess neuromuscular disease that is both non-invasive and quantifiable. Many patients do not tolerate standard current day assessment tools (such as needle electromyogram), and Electrical Impedance Myography (EIM) has the potential to serve as a non-invasive, quantifiable, diagnostic tool for neuromuscular disease. If successful, these devices will allow for improved ability to diagnose neuromuscular disease and to assess disease progression or remission, allowing for better care of individual patients as well as for use in clinical trials, where improved outcome measures for neuromuscular diseases is being sought.Duchenne Muscular DystrophyNA92Number of Subjects With an Adverse Event.Adverse events will be assessed during the time the subject is enrolled in the trial.1 dayTrue312FalseFalseFalseFalse NCT02760264VBP15-002ReveraGen BioPharma, Inc.INDUSTRYA Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)2018-12COMPLETEDThe purpose of this study is to determine whether a new medication called vamorolone is safe and well-tolerated by boys with Duchenne muscular dystrophy (DMD) ages ≥ 4 and \< 7 years old.INTERVENTIONALInclusion Criteria: 1. Subject's parent or legal guardian has provided written informed consent/Health Insurance Portability and Accountability Act (HIPAA) authorization prior to any study-related procedures; 2. Subject has a confirmed (by Central Genetic Counselor) diagnosis of DMD as defined as: 1. Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD, OR 2. Identifiable mutation within the DMD gene (deletion/duplication of one or more exons) where reading frame can be predicted as 'out-of-frame', and clinical picture consistent with typical DMD, OR 3. Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein (i.e. nonsense mutation, deletion/duplication leading to a downstream stop codon), with a typical clinical picture of DMD; 3. Subject is ≥ 4 years and \< 7 years of age at time of enrollment in the study; 4. Subject is able to complete the Time to Stand Test (TTSTAND) without assistance, as assessed at the Screening and Baseline Visits; 5. Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant, in the opinion of the Investigator. (Note: Serum gamma glutamyl transferase \[GGT\], creatinine, and total bilirubin all must be ≤ upper limit of the normal range at the Screening Visit); 6. Subject has evidence of chicken pox immunity as determined by presence of IgG antibodies to varicella, as documented by a positive test result from the testing laboratory at the Screening Visit; and 7. Subject and parent/guardian are willing and able to comply with scheduled visits, study drug administration plan, and study procedures. Exclusion Criteria: 1. Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; 2. Subject has current or history of chronic systemic fungal or viral infections; 3. Subject has had an acute illness within 4 weeks prior to the first dose of study medication; 4. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study medication; 5. Subject has evidence of symptomatic cardiomyopathy. \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; 6. Subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents. \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 3 months cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis. Inhaled and/or topical corticosteroids prescribed for an indication other than DMD are permitted but must be administered at stable dose for at least 3 months prior to study drug administration\]; 7. Subject has used idebenone within 4 weeks prior to the first dose of study medication; 8. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents; 9. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 10. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; 11. Subject is taking any other investigational drug currently or has taken any other investigational drug within 3 months prior to the start of study treatment; or 12. Subject has previously been enrolled in the study.MALE2024-10-18T00:00:002016-04-282016-04-302018-12-112016-05-032019-01-022016-062018-05-012018-05-01trueThe purpose of this study is to determine whether a new medication called vamorolone is safe and well-tolerated by boys with Duchenne muscular dystrophy (DMD) ages ≥ 4 and \< 7 years old.Duchenne Muscular DystrophyPHASE248Overall Summary of Adverse Events as Assessed by CTCAE Version 4.03Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination). Serious adverse events were recorded for up to 30 days after the final administration of study drug. Note: Total Number of Treatment Emergent Adverse Events: The total incidences of TEAEs experienced in study; Any Treatment Emergent Adverse Event: TEAEs reported at least once per dose groupAdverse events will be recorded from the date of informed consent and through the time of the subject's last study visit. Serious adverse events will be recorded from the date of informed consent and for up to 30 days after final drug administration.Serum Pharmacodynamic Biomarkers (Insulin Resistance)- Fasting GlucosePharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Week 2Serum Pharmacodynamic Biomarkers (Insulin Resistance) -Fasting GlucosePharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Week 2Serum Pharmacodynamic Biomarkers (Insulin Resistance)- InsulinPharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline , Week 2Serum Pharmacodynamic Biomarkers (Insulin Resistance)- InsulinPharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Week 2Serum Pharmacodynamic Biomarkers (Adrenal Axis Suppression)- First in Morning CortisolPharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Week 2 (pre-dose)Serum Pharmacodynamics Biomarkers (Bone Turnover) -OsteocalcinPharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Day 1, Week 2, Week 4Serum Pharmacodynamic Biomarkers (Bone Turnover)- Procollagen 1 N-Terminal PropeptidePharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline Day 1 Week 2 Week 4Serum Pharmacodynamic Biomarkers (Bone Turnover)- Procollagen 1 N-Terminal PropeptidePharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Day 1, Week 2, Week 4Serum Pharmacodynamic Biomarkers (Bone Turnover)-Type I Collagen C-TelopeptidesPharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\< 7 years with DMD.Baseline, Day 1, Week 4Pharmacokinetic (PK) Assessments (Tmax)Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. tmax= time when plasma concentration is at maximum.Day 1, Week 2Pharmacokinetic (PK) Assessments (AUC Inf)Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. AUC inf= Area under the concentration vs. time curve to time infinity.Day 1, Week 2Pharmacokinetic (PK) Assessments CL (ml/hr/kg)Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assayDay 1, Week 2Pharmacokinetic (PK) Assessments t(1/2)Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. t1/2= elimination half life.Day 1, Week 2Pharmacokinetic (PK) Assessments (Cmax)Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assayDay 1, Week 2Metabolites in Safety Testing (MIST) AssessmentA portion of each blood sample of the Week 2 (Day 14) pharmacokinetic assessment time points for the subjects receiving vamorolone 2 mg/kg/day was used for analysis of vamorolone metabolites.Week 2 (Day 14)False46FalseFalseFalseFalse NCT01380964GEE006.10GenethonOTHERResearch of Biomarkers in Duchenne Muscular Dystrophy Patients2016-08COMPLETEDThe purpose of this study is to identify potential biomarkers for the diagnosis, disease progression assessment and response to treatment in patients with Duchenne Muscular Dystrophy.OBSERVATIONALInclusion Criteria: * FOR PATIENTS: * Diagnosis of DMD confirmed by genetic testing * Age over 3 years * Weight over 15 kg * Informed consent signed * FOR CONTROLS: * Age over 3 years * Male gender * Weight over 15 kg * Subjects with national health insurance coverage * Informed consent signed * Nonacute or chronic muscular, allergic, infectious, endocrine or inflammatory disorder in the 3 weeks preceding inclusion Exclusion Criteria: * FOR PATIENTS: * Concomitant chronic or acute muscular, endocrine, infectious, allergic or inflammatory disorder in the three weeks preceding the blood test * Intake of medicines other than angiotensin-converting enzyme inhibitors, beta blockers, dietary supplements, vitamins, alendronate and methylphenidate. Steroids (and medicines prescribed with them such as calcium supplements and proton pump inhibitors) will be discussed * Mental retardation or autism * Vaccination or treatment with immunoglobulins within the three months preceding inclusion * FOR CONTROLS: * Concomitant chronic or acute muscular, neurological (including mental retardation and autism), infectious or inflammatory disorder in the three weeks preceding the blood test * Vaccination or treatment with immunoglobulins within the three months preceding inclusionMALE2024-10-18T00:00:002011-06-232011-06-232016-08-162011-06-272016-08-172011-062015-122015-12falseThe purpose of this study is to identify potential biomarkers for the diagnosis, disease progression assessment and response to treatment in patients with Duchenne Muscular Dystrophy.Duchenne Muscular Dystrophy (DMD)220IBiSD aims to identify and validate new and disease-specific biomarkers.This study will establish the relevance of urinary and blood biomarkers for the diagnosis, follow-up and assessment of treatment response in patients with DMD (IBiSD1, 2 and 4). IBiSD will also attempt to establish the seroprevalence to the different strains of AAV in patients with DMD (IBiSD3).End of studyTrue320FalseFalseFalseFalse NCT0186508415122Eli Lilly and CompanyINDUSTRYA Study of Tadalafil for Duchenne Muscular Dystrophy2019-09TERMINATEDThe main purpose of this study is to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD). The study will also assess the safety of tadalafil and any side effects that might be associated with it in boys who have DMD. Participants will receive study treatment (tadalafil or placebo) for the first 48 weeks of the study, and can then continue into an open label extension (OLE) that consists of two periods during which all participants will receive tadalafil. In OLE period 1, all participants will receive tadalafil for 48 weeks. Participants completing OLE period 1 will continue into OLE period 2 and will receive tadalafil for at least another 48 weeks.INTERVENTIONALInclusion Criteria: * Ambulant males with Duchenne muscular dystrophy (DMD) confirmed by typical clinical presentation (onset of clinical signs or symptoms before 6 years of age supported by an elevated serum creatinine kinase level, and ongoing difficulty with walking) together with either a record of a genetic confirmation of the DMD diagnosis, or a record of muscle biopsy showing near-complete dystrophin deficiency (excluding revertant fibers) * Receiving systemic corticosteroids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen (except those adjusting for weight changes) for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly (except for adjustments for weight) for the duration of the study * Able to complete the six minute walk distance (6MWD) test with results within 20% of each other at a minimum of 2 pre-randomization assessments * Left ventricular ejection fraction (LVEF) ≥50% as determined by echocardiogram * Written informed consent from parents/legal guardian will be obtained prior to any study procedure being performed. In addition, the child may be required to give documented assent, if capable. Exclusion Criteria: * Symptomatic cardiomyopathy or heart failure * Change in prophylactic treatment for heart failure within 3 months prior to start of study treatment * Cardiac rhythm disorder * History of participation in gene or cell-based therapy , or antisense oligonucleotide or stop codon read-through therapy * Unable to take orally administered tablets * Use of any pharmacologic treatment, other than corticosteroids, that might have an effect on muscle strength within 3 months prior to the start of study treatment (for example, growth hormone, anabolic steroids including testosterone) * New or changed treatment with herbal or dietary supplements being taken with an expectation of an effect on muscle strength or function during 1 month prior to first dose of study drug * Surgery that might have an effect on muscle strength or function within 3 months before study entry or planned surgery at any time during the study * Evidence of a lower limb injury that may affect performance on the 6MWD * Severe behavioral problems, including severe autism or attention deficit disorders, that may interfere with completion of the 6MWD * Any contraindication to tadalafil (use of any form of organic nitrate, either regularly and/or intermittently, or known serious hypersensitivity to tadalafil) * History of significant renal insufficiency or clinical evidence of cirrhosis * Have known allergy to any of the excipients in tadalafil tablets, notably lactose * Current Phosphodiesterase Type 5 (PDE5) inhibitor therapy or treatment within the past 6 monthsMALE2024-10-18T00:00:002013-05-242013-05-242019-09-252013-05-302019-10-092013-092015-122016-03trueThe main purpose of this study is to determine if tadalafil can slow the decline in walking ability of boys who have Duchenne muscular dystrophy (DMD). The study will also assess the safety of tadalafil and any side effects that might be associated with it in boys who have DMD. Participants will receive study treatment (tadalafil or placebo) for the first 48 weeks of the study, and can then continue into an open label extension (OLE) that consists of two periods during which all participants will receive tadalafil. In OLE period 1, all participants will receive tadalafil for 48 weeks. Participants completing OLE period 1 will continue into OLE period 2 and will receive tadalafil for at least another 48 weeks.Muscular Dystrophy, DuchennePHASE3331Change From Baseline in Six Minute Walk Distance (6MWD) in Meters6MWD measured the distance in meters a participant was able to walk in 6 minutes. The study used 6MWD procedure modified specifically for use in boys with Duchenne muscular dystrophy (DMD), including standardized verbal encouragement at specific intervals to maintain attention to the test, and use of a "safety chaser" to walk behind the participant during testing (McDonald et al., 2010a). The LS mean (LSM) change from baseline, standard error was derived using mixed model repeated measures (MMRM) methodology with factors for pooled country, treatment, visit, treatment-by-visit interaction and baseline 6MWD as a covariate.Baseline, Week 48Change From Baseline in the North Star Ambulatory Assessment (NSAA) Global ScoreThe NSAA is a functional scale specifically designed for ambulant boys with DMD that can provide additional information on motor functions important in maintaining normal ambulation and other activities important to everyday life. The NSAA is a 17-item evaluation of standing, ability to transition from lying to sitting, sitting to standing, and other mobility assessments. Each of the 17 items is evaluated on an ordinal scale of 0, 1, or 2, with higher scores reflecting better performance on the assessment, for a total maximum score of 34. This score was transformed to a 0 to 100 scale for the key analysis (referred to as linearized), with higher transformed scores reflecting better performance.The LS mean (LSM) change from baseline standard error was derived using mixed model repeated measures methodology (MMRM) with factors for pooled country, treatment, visit, treatment-by-visit interaction and Day 1 value as baseline covariate.Baseline, Week 48Change From Baseline in Timed Function Tests in SecondsTimed function tests included time it took to rise from floor, walk 10 meters, ascend 4 stairs, and descend 4 stairs.The lower the time in seconds taken, the better the performance. The LS mean change from baseline, standard error, was derived using mixed model repeated measures methodology (MMRM) with factors for pooled country, treatment, visit, treatment-by-visit interaction and Day 1 value as baseline covariate.Baseline, Week 48Time to Persistent 10% Worsening in 6MWDTime on study until the 6MWD becomes 10% less than the baseline 6MWD and continues at that level or lower until the end of study.Baseline through Week 48Time to Persistent 10% Worsening in Timed Function Tests (TFT)Time on study until the TFT becomes 10% worse than the baseline TFT and continues at that level or lower until the end of study. The time to persistent 10% worsening is the observed time after baseline until the first observed timepoint where their time used for the TFTs is \>110% of the baseline time and all the time values observed afterward are also \>110% of baseline. If the participant discontinues prior to experiencing persistent worsening, this outcome for the participant is censored at the date of discontinuation of the double-blind period. Only participants with complete evaluable data were analyzed. Complete evaluable data was defined as having baseline measurement, complete dates at evaluable visits and a post-baseline measurement at each evaluable visit.Baseline through Week 48Change From Baseline in Pediatric Outcomes Data Collection Instrument (PODCI) ScoresPODCI includes a Global Functioning Scale and 5 core scales:Upper Extremity and Physical Function,Transfer/Basic Mobility, Sports/Physical Functioning, Pain/Comfort,and Happiness.The Global Functioning Scale is the mean of the mean scores from 4 of the 5 core scales (all except the happiness core scale).The following PODCI scores were prespecified in the protocol for analysis: Global Functioning, Upper Extremity and Physical Function,Transfer/Basic Mobility, and Sports/Physical Functioning. The Global Functioning Scale and each of the core scales were standardized so that a score of "0" represents a poor outcome/worse health, while "100" is the best possible outcome/best health (i.e., complete range of each score is 0 to 100, with higher scores representing better functioning). The LS mean (LSM) change from baseline,standard error was derived using MMRM with factors for pooled country, treatment, visit, treatment-by-visit interaction and baseline PODC scale as covariate.Baseline, Week 48Pharmacokinetics (PK): Apparent Clearance (CL/F) of TadalafilThe data reported are population estimate and inter-patient variability.Weeks 4, 12, 24 and 36: -1 Hour up to 24 Hours PostdoseFalse714FalseFalseFalseFalse NCT06109103KA-22114Hacettepe UniversityOTHERTelerehabilitation-based Motor Imagery Training in Children With Duchenne Muscular Dystrophy2023-10NOT_YET_RECRUITINGWhen the field of neurorehabilitation is examined, most of the current physiotherapy and rehabilitation approaches are based on real movements to stimulate damaged motor neural connections through neuroplasticity. However, since studies have shown that similar brain regions are activated during real movement with motor imagery, which is defined as imagining movement without actually revealing the movement, the findings of these studies suggest that motor functions can be improved through neuroplasticity, just like real movement. When the literature especially in the pediatric population is examined; The effectiveness of motor imagery training with children with cerebral palsy was examined and positive results were found. However, there are no such studies on children with DMD. In addition, telerehabilitation-based motor imagery training is a very rare treatment modality that requires further research. Therefore, the aim of the study is to investigate the effect of telerehabilitation-based motor imagery training on motor imagery ability, motor function and physical performance in children with DMD. The secondary aim of the study is to investigate the effects of telerehabilitation-based motor imagery training on psychosocial factors including fatigue and quality of life in children with DMD.INTERVENTIONALInclusion Criteria: * Confirmation of DMD diagnosis by clinical, diagnostic studies and molecular genetic studies, * According to Brooke Lower Extremity Functional Classification, it is at Circuit 1-2 levels (early period), * To be between the ages of 7-15, * To be able to comply with the physiotherapist's instructions, to have a score of 27 and above (between 27 and 35 indicates normal cognitive level) in the Modified Mini Mental Test, * Having a computer and an active internet connection at home Exclusion Criteria: * Inability to communicate adequately with the physiotherapist, * In the last 6 months, having deformities that may prevent performance evaluations or physiotherapy program, having any injury and / or surgery of the lower / upper extremities * Having any additional neurological/orthopedic problems other than DMDMALE2024-10-18T00:00:002023-06-192023-10-272023-10-272023-10-312023-10-312023-12-152024-10-012025-12-01falseFalseFalseWhen the field of neurorehabilitation is examined, most of the current physiotherapy and rehabilitation approaches are based on real movements to stimulate damaged motor neural connections through neuroplasticity. However, since studies have shown that similar brain regions are activated during real movement with motor imagery, which is defined as imagining movement without actually revealing the movement, the findings of these studies suggest that motor functions can be improved through neuroplasticity, just like real movement. When the literature especially in the pediatric population is examined; The effectiveness of motor imagery training with children with cerebral palsy was examined and positive results were found. However, there are no such studies on children with DMD. In addition, telerehabilitation-based motor imagery training is a very rare treatment modality that requires further research. Therefore, the aim of the study is to investigate the effect of telerehabilitation-based motor imagery training on motor imagery ability, motor function and physical performance in children with DMD. The secondary aim of the study is to investigate the effects of telerehabilitation-based motor imagery training on psychosocial factors including fatigue and quality of life in children with DMD.Duchenne Muscular DystrophyNA36Kinesthetic and Visual Imagery Questionnaire (KVIQ)-10Kinesthetic and Visual Imagery Questionnaire-10 is a 10-item version consisting of 5 movements, and each item is scored between 1 and 5 in the same way. The total score of the questionnaire varies between 10-50. The kinesthetic and visual imagery sub-scores range from 5 to 25. High scores indicate good visualization ability.Change from Baseline at 8 weeksMovement Imagery Questionnaire for Children (MIQ-C)During this test, which is applied with a physiotherapist, children will be asked to physically perform the movement in the items in the instruction once, and then imagine that they are doing the movement from 3 different perspectives. The clarity of these imagery will be scored using a Likert-type scale from 1 (very difficult to feel) to 7 (very easy to feel).Change from Baseline at 8 weeksMental Chronometry TestIn the mental stopwatch application; Children will be asked to make a movement and then be asked to imagine that movement. In our study, mental chronometer measurements for timed performance tests (standing from supine to standing up, walking 10 meters, climbing 4 steps, descending 4 steps) and the Four Square Step Test (DKAT) will be made with a stopwatch. Simultaneously with the start command, the stopwatch will be started, and the individual will start the imagery of the task and the stopwatch will be stopped as soon as he/she indicates that he/she has finished the imagery. The temporal coherence between real and imagined motion will be calculated in terms of delta time with the formula "(real motion-imagined motion)/\[(actual motion + imagined motion)/2\] x 100".Change from Baseline at 8 weeks6 minutes walk testparticipants were instructed to travel as far and as fast as possible in six minutes on 25 meter-indoor course.Change from Baseline at 8 weeksTimed performance testsTimed function tests included time taken to stand from a supine position, time taken to run 10 m, time taken to climb 4 standard-sized stairs, time taken to descend 4 standard-sized stairsChange from Baseline at 8 weeksFour Square Step TestFour Square Step Test is performed by asking the child to step clockwise and counterclockwise from square 1 to square 4 against time on a floor that is divided by sticks to form 4 squares and numbered from 1 to 4. It is a timed test measured with a stopwatch. Time starts when the child lifts his or her foot to take a step. Time is stopped when both feet reach square 1 again. The dynamic balance of the child is interpreted by looking at the completion time of the test. Accordingly, shorter test time indicates better dynamic balance.Change from Baseline at 8 weeksMotor Function Measurement (MFM)The items in this outcome measure, which evaluate functions in 3 different sections (standing and transfers (D1), proximal/axial (D2) and distal (D3)) in a total of 32 items, are scored between 0 and 3. 0; cannot initiate any movement and maintain the starting position, 1; partially completes the move, 2; makes movement slowly and visibly clumsily, with compensations, 3; makes the movement in the specified standard pattern. A score between 0-96 is taken from the scale. High scores indicate higher motor function.Change from Baseline at 8 weeksNorth Star Ambulation AssessmentUsing the NSAA, patients' ambulations are scored with a 3-level grading system as "acting normally without assistance=2", "doing it with compensation=1" and "inability to perform the activity independently=0". It contains 17 items. . The total score ranges between 0-34. A higher score indicates better ambulation and motor function.Change from Baseline at 8 weeksPedsQL Multidimensional Fatigue ScaleThe fatigue of children with DMD will be assessed with the PedsQL Multidimensional Fatigue Scale. This scale evaluates fatigue with a total of 18 items, six items under each heading and three main headings as "General Fatigue", "Fatigue in Sleep/Resting" and "Cognitive Fatigue". It has three different forms for young children (5-7 years old), children (8-12 years old) and adolescents (13-17 years old). In the young child report, each item is scored as "Not always=0", "Sometimes=2" and "Very=4", while in other forms, each item is scored 0, 1, 2, with answers ranging from "Never" to "Almost always". It can get 3, 4 points. All three forms have both child and parent reports.Change from Baseline at 8 weeksPediatric Quality of Life Inventory-3.0 (PedsQL-3.0)-Neuromuscular ModuleThe Pediatric Quality of Life Inventory-3.0 (PedsQL-3.0)-Neuromuscular Module Turkish version PedsQL-3.0 Neuromuscular Module will be used to evaluate the health-related quality of life of children with DMD. The scale consists of 25 items under 3 categories. Items are scored on a Likert-type scale from 0 (never poses a problem) to 4 (always poses a problem). Scoring is between 0-100 (0 points=100, 1 point=75, 2 points=50, 3 points=25, 4 points=0) at the end of the test. Higher scores on the PedsQL-3.0 Neuromuscular Module indicate better health-related quality of lifeChange from Baseline at 8 weeksTrue715FalseFalseFalseFalse NCT06378203MEDEA 1013IRCCS Eugenio MedeaOTHERRehabilitation in Muscular Dystrophies From the Hospital Facility to the Home: Pilot Project [RIMUDI]2024-04RECRUITINGUntil twenty years ago physical exercise in muscular dystrophies was considered harmful to the muscle cells, inducing an acceleration of cell necrosis. In fact, it is now certain and validated that an active lifestyle and the practice of controlled and regular physical activity are to be considered therapeutic in neuromuscular pathologies with the aim of optimizing muscular and cardio-respiratory function and preventing atrophy In particular, it seems that the optimal care is extensive and can be carried out in a safe and controlled manner even at home. It is well documented that exercise has beneficial effects on muscle with increased strength and muscular endurance.INTERVENTIONALInclusion Criteria:- definite genetic diagnosis of Limb Girdle Muscular Dystrophy: LGMD2A/R1(calpain 3 deficiency), LGMD2B/R2(dysferlin deficiency), LGMD2I/R9 (FKRP), LGMD2L /R11(ANOCTAMIN 5) or Facio Scapulo Humeral Dystrophy (FSHD) or Becker muscular dystrophy (BMD); * strength values at the level of the main antigravity muscles \> or equal to 3, according to the Medical Research Council (MRC) scale; * independent walking in a protected (internal) environment, even with assistance; * patients must have performed at least 1 clinical-functional evaluation at our facility in the year preceding the start of the trial. * They must express compliance with joining the project and must not be followed from a physiotherapeutic point of view elsewhere during the 6 months of participation in the project. Exclusion Criteria: * dilated or ischemic heart disease with Left Ventricle Ejection Fraction \<50%; * chronic respiratory failure with Forced Vital Capacity \< 40% predicted, nocturnal oxygen desaturation - \> 5% of nocturnal time spent with peripheral oxygen saturation levels \< 90).ALL2024-10-18T00:00:002024-03-192024-04-192024-04-192024-04-222024-04-222023-12-152024-12-152025-04-15FalseFalseUntil twenty years ago physical exercise in muscular dystrophies was considered harmful to the muscle cells, inducing an acceleration of cell necrosis. In fact, it is now certain and validated that an active lifestyle and the practice of controlled and regular physical activity are to be considered therapeutic in neuromuscular pathologies with the aim of optimizing muscular and cardio-respiratory function and preventing atrophy In particular, it seems that the optimal care is extensive and can be carried out in a safe and controlled manner even at home. It is well documented that exercise has beneficial effects on muscle with increased strength and muscular endurance.Muscular Dystrophies;Limb Girdle Muscular Dystrophy;Facio-Scapulo-Humeral Dystrophy;Becker Muscular DystrophyNA106 minute walk test (6MWT)6 Minute Walk Test (measured in meters- normal range 500-600 meters in 6 minutes)6 months : Modification from month 0 (baseline) to month 6Motor Function Measure scale (MFM)MFM measures Motor function at 3 levels (D1 change position and transfers; D2 axial and proximal motor function; D3 distal motor function), Each i item is scored on a 4-point Likert scale from 0 (cannot initiate the task) to 3 (performs the task fully). Item scores are summed, and the raw score is transformed to an overall total score ranging from 0 (severe functional impairment) to 100 (no functional impairment). rated in % from 0 to 100 and an overall percentage is calculated , in %)6 months: Modification from month 0 (baseline) to month 6Performance of Upper Limb (PUL)Performance of upper limb is a scale specifically designed to measure upper limb function in muscular dystrophy; there is an entry level item ranging from 0 to 6; the PUL scale test the proximal to distal progression of muscle weakness through three levels: high (shoulder domain), mid (elbow domain), and distal (wrist and finger domain); the PUL score (version 1.2) includes 22 items ; the overall scores ranges from 0 to 426 Months: Modification from month 0 (baseline) to month 6Time up and go (TUG)Recording of the time required to stand up from a chair, walk for 3 meters and going back to the sitting position- normal range \< 10 seconds6 months: Modification from month 0 (baseline) to month 6Modification of fatigue and quality of life scales from T0 to T6Modified Fatigue Impact Scale (MFIS) composed by 3 sub scales (physical scale score final range from 0 to 36; COGNITIVE final range from 0 to 40; PSYCHOSOCIAL, final range score from 0 to 8) and 1 final total score ranging from 0 to 846 months: Modification from month 0 (baseline) to month 6Short Form 36 (SF36)one multi-item scale that assesses eight health concepts: 1) limitations in physical activities because of health problems; 2) limitations in social activities because of physical or emotional problems; 3) limitations in usual role activities because of physical health problems; 4) bodily pain; 5) general mental health (psychological distress and well-being); 6) limitations in usual role activities because of emotional problems; 7) vitality (energy and fatigue); and 8) general health perceptions. Each item with a score ranging from 0 to 1006 months: Modification from month 0 (baseline) to month 6False18FalseFalseFalseFalse NCT00674843GAAD-MD-CTP1GAAD Medical Research Institute Inc.OTHERThe Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies2009-08UNKNOWNThe muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. This study will investigate the use of far infrared radiation for managing muscular dystrophies.INTERVENTIONALInclusion Criteria: * Persons with muscular dystrophies Exclusion Criteria: * NoneALL2024-10-18T00:00:002008-05-062008-05-072009-08-142008-05-082009-08-172008-052010-052010-06trueThe muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. This study will investigate the use of far infrared radiation for managing muscular dystrophies.Muscular DystrophiesPHASE14Management and Cure of muscular dystrophies2 YearsRehabilitation of people with muscular dystrophies2 YearsFalseFalseFalseFalseFalse NCT01772043SNT-III-003Santhera PharmaceuticalsINDUSTRYPhase III Study of Idebenone in Duchenne Muscular Dystrophy (DMD)2015-09COMPLETEDThe aim of this Phase III study was to assess the efficacy of idebenone on pulmonary function, motor function, muscle strength and quality of life in patients with DMD. Furthermore, the safety and tolerability of idebenone was assessed.INTERVENTIONALInclusion Criteria: 1. Patients 10 - 18 years of age at Baseline. 2. Signed and dated informed consent. 3. Documented diagnosis of DMD or severe dystrophinopathy and clinical features consistent of typical DMD at diagnosis (i.e. documented delayed motor skills and muscle weakness by age 5 years). DMD should be confirmed by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or \<5% of normal) on Western blot or immunostain. 4. Ability to provide reliable and reproducible repeat PEF within 15% of the first assessment (i.e. Baseline vs. Screening). 5. Patients assessed by the investigator as willing and able to comply with the requirements of the study, possess the required cognitive abilities and are able to swallow study medication. Exclusion Criteria: 1. Patients dependent on assisted ventilation at Screening and/or Baseline (defined as non-invasive nocturnal ventilation, daytime non-invasive ventilation or continuous invasive ventilation). 2. Patients with documented DMD-related hypoventilation for which assisted ventilation is needed according to current standard of care guidelines (e.g. FVC\< 30%) or is required in the opinion of the Investigator. 3. Patients with a percent predicted PEF \> 80% at Baseline. 4. Patients unable to form a mouth seal to allow precise respiratory flow measurements and mouth pressures. 5. Symptomatic heart failure (high probability of death within one year of Baseline) and/or symptomatic ventricular arrhythmias. 6. Participation in the previous Phase II or Phase II Extension study (SNT-II-001 or SNT-II-001-E) for idebenone. 7. Participation in any other therapeutic trial and/or intake of any investigational drug within 90 days prior to Baseline. 8. Use of carnitine, creatine, glutamine, oxatomide, or any herbal medicines within 30 days prior to Baseline. 9. Use of coenzyme Q10 or vitamin E (if taken at a dose of 5 times above the daily physiological requirement) within 30 days prior to Baseline. 10. Any previous use of idebenone. 11. Any concomitant medication with a depressive or stimulating effect on respiration or the respiratory tract. 12. Planned or expected spinal fixation surgery during the study period (as judged by the investigator). 13. Asthma, bronchitis/COPD, bronchiectasis, emphysema, pneumonia or the presence of any other non-DMD respiratory illness that affects PEF. 14. Chronic use of beta-2 agonists or any use of other bronchodilating medication (e.g. inhaled steroids, sympathomimetics, anticholinergics). Please note: Chronic use if defined as a daily intake for more than 14 days. 15. Moderate or severe hepatic impairment or severe renal impairment. 16. Prior or ongoing medical condition or laboratory abnormality that in the Investigator's opinion could adversely affect the safety of the subject. Please note: Patients who suffer from a severe, unstable condition including (but not limited to) cancer, auto-immune diseases, haematological diseases, metabolic disorders or immunodeficiencies, and who are at risk of an aggravation unrelated to the study condition, can only be included in the study if accepted in writing by the Sponsor's Medical Monitor. 17. Relevant history of or current drug or alcohol abuse or use of any tobacco/marijuana products/smoking 18. Known individual hypersensitivity to idebenone or to any of the ingredients/excipients of the study medication 19. Systemic glucocorticoid therapy 1. Chronic use of systemic glucocorticoid therapy for DMD related conditions within 12 months of Baseline (the "12 month non-use period") 2. More than 2 rounds of acute systemic glucocorticoid burst therapy (of ≤2 week duration) for non-DMD related conditions within the 12 month non-use period 3. Use of any round of systemic glucocorticoid burst therapy of longer than 2 weeks duration within the 12 month non-use period 4. Use of systemic glucocorticoid burst therapy less than 8 weeks prior to baselineMALE2024-10-18T00:00:002009-12-082009-12-082015-09-232009-12-092015-10-192009-072014-012014-04trueThe aim of this Phase III study was to assess the efficacy of idebenone on pulmonary function, motor function, muscle strength and quality of life in patients with DMD. Furthermore, the safety and tolerability of idebenone was assessed.Muscular Dystrophy, Duchenne;Ambulatory CarePHASE365Change From Baseline in Percent Predicted Peak Expiratory Flow (PEF) at Week 52Change from Baseline in Percent Predicted Peak Expiratory Flow (PEF) at Week 52Baseline and Week 52Change From Baseline in Percent Predicted Forced Vital Capacity (FVC) at Week 52Change From Baseline in Percent Predicted Forced Vital Capacity (FVC) at Week 52Baseline and Week 52Change From Baseline to Week 52 in Muscle StrengthThe change from Baseline to Week 52 in muscle strength as measured by Hand-Held Myometry (HHM) was performed following standardized procedures. As almost all patients were non-ambulatory, only analyses of upper limb muscle strength were performed. Results for elbow flexors and for elbow extensors are reported below.The highest value of 3 consecutive measurements with an interval of at least 10 seconds were recorded. The HHM was measured using MicroFET2, a digital hand held muscle tester. The selected unit of measure was Newtons (N).Baseline and Week 52Change From Baseline to Week 52 in Quality of Life Assessed by PedsQL™ Paediatric Quality of Life InventoryPedsQL Quality of Life Inventory contains paediatric HRQOL measurements: Physical, Emotional,Social and School Functioning. Item Scaling: 5-point Likert scale from 0 (Never) to 4 (Almost always). 3-point scale: 0 (Not at all), 2 (Sometimes) and 4 (A lot) for the Young Child (ages 5-7). Scores are transformed on a scale from 0 to 100 ( 0=100, 1=75, 2=50, 3=25, 4=0) Total Score: Sum of all the items over the number of items answered on all the Scales. The values reported below are overall scores on Paediatric Quality of Life Inventory in Child/Teen Report. These scores were obtained by averaging scores for all the described subscales. The overall scores range between 0-100 with 0 = worst outcome and 100= best outcomeBaseline and Week 52Percentage of Patients Reporting Adverse Events52 WeeksFalse1018FalseFalseFalseFalse NCT00654784SNT-II-001Santhera PharmaceuticalsINDUSTRYEfficacy and Tolerability of Idebenone in Boys With Cardiac Dysfunction Associated With Duchenne Muscular Dystrophy2011-07COMPLETEDIdebenone is a synthetic analogue of coenzyme Q10 and is a powerful antioxidant and essential constituent of the process of energy production on the cellular level. It can protect mitochondria from oxidative damage and boost their impaired function. It is thought that this mechanism will slow decline in heart function that is part of the disease process of Duchenne Muscular Dystrophy (DMD). It is possible that patients may benefit in terms of muscle strength and respiratory function. This pilot trial is designed to investigate this.INTERVENTIONALInclusion Criteria: * Patients 8 - 16 years of age at time of enrolment * Male * Presence of cardiac involvement/dysfunction, defined by abnormal peak systolic strain in left ventricle (LV) inferolateral wall * Confirmed diagnosis of DMD (out of frame dystrophin gene deletion OR absent/\<5% dystrophin protein on muscle biopsy; clinical picture consistent of typical DMD) * If on chronic glucocorticosteroids treatment (deflazacort, prednisone) for DMD (or any other disease) (i.e. concomitant medication): dosage must be stable (unchanged) 6 months prior to inclusion * If on chronic medication for DMD associated cardiomyopathy (β-blocker, diuretics): dosage must be stable (unchanged) 3 months prior to inclusion * Ability to provide reproducible repeat quantitative muscle testing (QMT) upper limb score within 15% of first assessment score (at Visit1/Day 1 versus Screening Visit Exclusion Criteria: * Symptomatic cardiomyopathy or heart failure * Asymptomatic but severe cardiac dysfunction on baseline (Screening) evaluation: Fractional shortening (FS) \< 20% and/or Ejection fraction (EF) \< 40% * Use of ACE-inhibitors * Previous history of ventricular arrhythmias (other than isolated ventricular extrasystole); ventricular arrhythmias presented at Screening * Previous (6 months or less) participation in any other therapeutic trial for DMD * Use of coenzymeQ10, idebenone, creatine, glutamine, oxatomide, or any herbal medicines within the last 6 months * History of significant concomitant illness or significant impairment of renal or hepatic function * Known individual hypersensitivity to idebenoneMALE2024-10-18T00:00:002008-04-032008-04-032011-07-292008-04-092011-08-012005-102007-082007-08falseIdebenone is a synthetic analogue of coenzyme Q10 and is a powerful antioxidant and essential constituent of the process of energy production on the cellular level. It can protect mitochondria from oxidative damage and boost their impaired function. It is thought that this mechanism will slow decline in heart function that is part of the disease process of Duchenne Muscular Dystrophy (DMD). It is possible that patients may benefit in terms of muscle strength and respiratory function. This pilot trial is designed to investigate this.Duchenne Muscular Dystrophy (DMD)PHASE221The Relative Change in Peak Systolic Radial Strain of the Left Ventricle (LV) Inferolateral Wall From Baseline (at Screening) to Week 52, Assessed by Color Doppler Myocardial Imaging (CDMI).* Assessing the peak systolic radial strain of the left ventricle inferolateral wall is used to characterize the cardiac involvement in the DMD patients. * Color Doppler Myocardial Imaging technique is used to quantify regional myocardial function. The cardiac involvement in DMD is characterized by degeneration, atrophy and fibrosis of the myocardium, leading to dilated cardiomyopathy. The process begins in the posterolateral wall of the left ventricle, with septal involvement appearing at later stages.baseline and Week 52Respiratory Function: Forced Vital Capacity (FVC), Forced Expiratory Volume in 1 Second (FEV1), Maximal Inspiratory Pressure (MIP) and Peak Flow (PF)1 yearSkeletal Muscle Strength (Upper Limb, Right and Left): Hand Grip, Elbow Flexors and Elbow Extensors (Upper Limb Score) Timed Walking Test (10 Metres) (Ambulant Patients Only)1 yearSafety and Tolerability, Assessed by Adverse Events, Blood and Urine Laboratory Measures, ECG.1 yearFalse816TrueFalseFalseFalse NCT024203794658-203Sarepta Therapeutics, Inc.INDUSTRYSafety Study of Eteplirsen to Treat Early Stage Duchenne Muscular Dystrophy2020-12COMPLETEDThis is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.INTERVENTIONALInclusion Criteria: * Male 4-6 years of age. * Diagnosis of DMD, genotypically confirmed. * Stable dose of oral corticosteroids for at least 12 weeks or has not received corticosteroids for at least 12 weeks. * Intact right and left biceps muscles or two alternative upper arm muscle groups. * Parent that is willing to provide consent and comply with study procedures. Exclusion Criteria: * Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks that may have an effect on muscle strength or function (e.g., growth hormone, anabolic steroids). * Previous or current treatment with any other experimental treatments within 12 weeks or participation in any other clinical trial within 6 months. * Major surgery within 3 months prior to the first dose of study drug, or planned surgery during this study which would interfere with the ability to perform study activities. * Presence of other clinically significant illness.MALE2024-10-18T00:00:002015-04-102015-04-142020-12-312015-04-172021-01-252015-06-302018-12-172018-12-17falseTrueFalseThis is an open-label study to assess the safety, tolerability, efficacy and pharmacokinetics of eteplirsen in patients with early stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.Duchenne Muscular Dystrophy (DMD)PHASE233Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs, and TEAEs Leading to DiscontinuationAdverse Event (AE) was any untoward medical occurrence in a participant that did not necessarily have a causal relationship with the study drug. Serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. Treatment emergent adverse events were events that developed or worsened during the on-treatment period (defined as time from first dose of study drug and up to 28 days after last dose of study drug \[up to 100 weeks\]) that were absent before treatment or that worsened relative to pre-treatment state. AEs included both serious and non-serious adverse events.Baseline up to 100 weeksNumber of Participants With Potentially Clinically Significant Laboratory Abnormalities Reported as TEAEsLaboratory parameters included hematology, serum chemistry (SC), urinalysis and coagulation. Number of participants with at least one potentially clinically significant abnormal findings were reported as TEAEs. The Investigator determined whether abnormal assessment results were clinically significant or not clinically significant. Clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to 100 weeksNumber of Participants With Potentially Clinically Significant Abnormalities in Vital Signs Reported as TEAEsVital sign parameters included systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and body temperature. Number of participants with at least one potentially clinically significant abnormal vital signs findings were reported as TEAEs. The Investigator determined whether abnormal assessment results were clinically significant or not clinically significant. Clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to 100 weeksNumber of Participants With at Least One Abnormal Physical Examination FindingPhysical examinations, full and brief, were performed by the Investigator, a physician Sub-Investigator, or a Nurse Practitioner (if licensed in the state or province to perform physical examinations). Full physical examinations included examination of general appearance; head, ears, eyes, nose, and throat; heart; lungs; chest; abdomen; skin; lymph nodes; and musculoskeletal and neurological systems. Number of participants with at least one abnormal physical examination findings were reported. Abnormality in physical examinations was based on Investigator's discretion.Baseline up to 100 weeksNumber of Participants With Abnormalities in Electrocardiograms (ECGs) Reported as TEAEsTwelve-lead ECGs and Holter ECGs were performed at a consistent time of day throughout the study. Electrocardiograms were performed only after the participant was in the supine position, resting, and quiet for a minimum of 15 minutes. The ECG was manually reviewed and interpreted by medically qualified personnel. Number of participants with at least one abnormalities in ECGs were reported as TEAEs.Baseline up to 96 weeksNumber of Participants With Abnormalities in Echocardiograms (ECHO) Reported as TEAEsStandard, 2-dimensional ECHOs were performed at a consistent time of day throughout the study. Cardiac function events included cardiomegaly, tachycardia, and dyspnoea. The ECHO was reviewed and interpreted by medically qualified personnel. Number of participants with at least one abnormalities in ECHO were reported as TEAEs.Baseline up to 96 weeksChange From Baseline in Dystrophin Protein Levels Quantified by Western Blot at Week 48 and 96Change from baseline in dystrophin protein levels (in muscle biopsy samples) were determined by Western blot at Week 48 and 96 was reported. For each time point, 2 blocks of tissues were analyzed by Western blot, each with 2 replicates of gels to determine the dystrophin level as compared to a healthy individual (Percent Normal). The block average value from 2 replicate gels was computed. The overall average was calculated as the mean of the block average values. The overall average values were used for all analyses. In case only 1 gel was available for a block, then that value was used as the block average value.Baseline, Week 48 and 96Change From Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Week 48 and 96Change from baseline in dystrophin intensity levels (in muscle biopsy samples) was determined by Immunohistochemistry at Week 48 and 96 was reported.Baseline, Week 48 and 96False46TrueTrueFalseFalse NCT05409079SchulzeAbiliTech Medical Inc.INDUSTRYSchulze Muscular Dystrophy Ability Clinical Study2022-12RECRUITINGThe primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home environments. Functional outcomes will include documenting active range of motion and the ability to perform activities of daily living (ADLs) using the standardized Canadian Occupational Performance Measure (COPM) and the Role Evaluation of Activities of Life (REAL) assessments. Secondary objectives are to assess the safety record and report on adverse events (AEs) and parameters related to device usage, including device usage time and the time required to don/doff the device. Secondary objectives also include characterization of user upper limb performance based on etiology.INTERVENTIONALInclusion Criteria: 1. Subjects between 10 and 99 years of age, with onset of neuromuscular conditions that cause quadriparesis 2. MMT score of 1-3 in the elbow, wrist and hand; and a MMT score of 2-3 in the shoulder of at least one of the subject's arms 3. Ability of subject to raise their forearm off of their lap or laptray 4. Willingness to comply and participate with the study protocol and attend the study sessions 5. Ability to communicate verbally and respond to questions and commands 6. Ability to provide informed consent 7. Selected for participation based on investigator discretion Exclusion Criteria: 1. Use of invasive ventilator 2. Open wounds or chronic pressure sores on upper extremities, neck, back or torso 3. Significantly unstable upper extremity joints 4. Unhealed bone fractures in the upper extremities 5. Active rotator cuff tear, grade 2 or 3 6. Surgical fixations limiting full passive range of motion 7. Uncontrolled upper-limb spasticity that significantly limits normal range of motion 8. Uncontrollable pain in the neck, shoulders or upper limbs 9. Ability to fully raise both hands simultaneously above their head with ease as defined by the investigator 10. Lack passive shoulder abduction of 120 degrees 11. Lack 90 degrees of passive elbow extension 12. Unable to follow instructions 13. Exhibit significant behavioral problems 14. Inability to provide consentALL2024-10-18T00:00:002022-06-032022-06-032022-12-012022-06-082022-12-052022-05-262023-06-302023-06-30FalseTrueThe primary objective of the Schulze study is to evaluate the function of the upper limbs of subjects diagnosed with neuromuscular disorders, with and without use of the Abilitech Assist device in the clinic and home environments. Functional outcomes will include documenting active range of motion and the ability to perform activities of daily living (ADLs) using the standardized Canadian Occupational Performance Measure (COPM) and the Role Evaluation of Activities of Life (REAL) assessments. Secondary objectives are to assess the safety record and report on adverse events (AEs) and parameters related to device usage, including device usage time and the time required to don/doff the device. Secondary objectives also include characterization of user upper limb performance based on etiology.Muscular Dystrophies;Spinal Muscular Atrophy;Duchenne Muscular Dystrophy;Limb Girdle Muscular Dystrophy;FSHD;Cerebral Palsy;Becker Muscular DystrophyNA35Canadian Occupational Performance Measure (COPM)The Canadian Occupational Performance Measure is an evidence-based outcome measure designed to capture a client's self-perception of performance in everyday living, over time. The COPM results in two main scores - PERFORMANCE and SATISFACTION - each out of 10. PERFORMANCE and SATISFACTION scores can be generated for up to 5 individual occupational performance problems. Average PERFORMANCE and SATISFACTION scores can be calculated by summing individual problem scores and dividing by the number of problems. Change in scores for both PERFORMANCE and SATISFACTION can be calculated after a reassessment interval and a comparison of individual's score differences from Time 1 (assessment) to Time 2 (re-assessment). Increases in scores indicate improvement in task performance and satisfaction.Change from Baseline before device intervention (30 days), and after device intervention (60 days)Roll Evaluation of Activities of Life (REAL) assessmentThe REAL is an instrument to help professionals assess an individuals ability to care for themselves at home, at school and in the community. This assessment includes 136 total items with two domains(ADL: 78 items, IADL:58 items) that are rated using a 4-point scale (0-3) to describe whether an individual is unable, sleds, occasionally, or frequently able to complete a task. Scores are summed for each domain and compared over time with increases in scores indicating improvement in each domain.Change from Baseline before device intervention (30 days), and after device intervention (60 days)False10FalseFalseFalseFalse NCT02485938CAP-1002-DMD-01Capricor Inc.INDUSTRYHOPE-Duchenne (Halt cardiomyOPathy progrEssion in Duchenne)2018-07COMPLETEDMale subjects with cardiomyopathy secondary to Duchenne muscular dystrophy (DMD) meeting all inclusion and no exclusion criteria will be randomized. All subjects will be at least 12 years of age. They will be randomized in a 1:1 manner to either intracoronary infusion of CAP-1002 in three coronary arteries supplying the three major cardiac territories of the left ventricle of the heart (anterior, lateral, inferior/posterior) or usual care. In the active treatment arm, all three major cardiac territories will be treated (infused) during a single procedure in an open-label fashion.INTERVENTIONALInclusion Criteria: 1. Male subjects 18 years of age or older must be able to provide informed consent and follow up with protocol procedures. Male subjects at least 12 years of age but younger than 18 years of age must be able to provide assent with parent or guardian providing permission for study participation. Only male subjects will be randomized into this study. 2. Documented diagnosis of Duchenne Muscular Dystrophy by genetic mutation analysis. 3. Cardiomyopathy with left ventricular scar by LGE in at least 4 segments as assessed by contrast-enhanced MRI and EF \>35% at the time of screening. 4. Use of evidence based medical-therapy in accordance with the "DMD Care Considerations Working Group" guidelines for the management of DMD, for at least three months prior to signing the consent form (or, providing assent) or documented contraindication or intolerance or patient preference. 5. Subjects must be taking systemic glucocorticoids for at least six months prior to screening. 6. Subjects must be 12 years of age or older at time of screening 7. Subjects must be appropriate candidates for cardiac catheterization and intracoronary infusion of CAP-1002, in the judgement of the site's interventional cardiologist. Exclusion Criteria: 1. Therapy with intravenous inotropic or vasoactive medications at the time of screening. 2. Inability to undergo cardiac catheterization and/or MRI without general anesthesia. 3. Immunologic incompatibility with all available Master Cell Banks (MCBs) by single-antigen bead (SAB) serum antibody profiling. 4. Planned or likely major surgery in the next 12 months after planned randomization. 5. Left Ventricular Assist Devices (LVAD) or those subjects actively in the process of acquiring a LVAD. 6. Contraindication to cardiac MRI. 7. Known hypersensitivity to contrast agents. 8. Estimated glomerular filtration rate (GFR) \<60 mL/min, as calculated by the CKD-EPI cystatin C equation (Inker, Schmid et al. 2012). 9. Active infection not responsive to treatment. 10. Active systemic allergic reaction(s), connective tissue disease or autoimmune disorder(s). 11. History of cardiac tumor or cardiac tumor demonstrated on screening MRI. 12. History of previous stem cell therapy. 13. History of use of medications listed in Appendix 3 within 3 months prior to signing the ICF / Assent through completion of the study infusion. 14. Known moderate-to-severe aortic stenosis/insufficiency or severe mitral stenosis/regurgitation. 15. Current active alcohol or drug abuse. 16. Known history of Human Immunodeficiency Virus (HIV) infection. 17. Known history of chronic viral hepatitis. 18. Abnormal liver function (ALT/AST \>10 times the upper reference range) and/or abnormal hematology (hematocrit \<25%, WBC \<3000 μl, platelets \<100,000 μl) studies without a reversible, identifiable cause. 19. Known hypersensitivity to bovine products. 20. Known hypersensitivity to dimethyl sulfoxide (DMSO). 21. Uncontrolled diabetes (HbA1c \>9.0). 22. Inability to comply with protocol-related procedures, including required study visits. 23. Any condition or other reason that, in the opinion of the Investigator or Medical Monitor, would render the subject unsuitable for the study. 24. Currently receiving investigational treatment on another clinical study or expanded access protocol, including any of the following: * Received investigational intervention within 30 days prior to randomization * Treatment and/or an incomplete follow-up to treatment with any investigational cell based therapy within 6 months prior to randomization * Active participation in other research therapy for cardiovascular repair/regenerationMALE2024-10-18T00:00:002015-06-192015-06-262018-07-182015-06-302018-07-202016-012017-092017-09trueTrueFalseMale subjects with cardiomyopathy secondary to Duchenne muscular dystrophy (DMD) meeting all inclusion and no exclusion criteria will be randomized. All subjects will be at least 12 years of age. They will be randomized in a 1:1 manner to either intracoronary infusion of CAP-1002 in three coronary arteries supplying the three major cardiac territories of the left ventricle of the heart (anterior, lateral, inferior/posterior) or usual care. In the active treatment arm, all three major cardiac territories will be treated (infused) during a single procedure in an open-label fashion.Duchenne Muscular Dystrophy;CardiomyopathyPHASE1PHASE225Safety and tolerability composite of CAP-1002 will be established as described below.Will be established by summaries of the occurrence of changes in coronary blood flow events, major cardiac events, laboratory assessments, vital signs, physical examination, ECG, and the occurrence of major adverse events.72 hours post infusion of allogeneic cardiosphere-derived cellsCardiac Structural composite assessed as: Absolute and relative change in parameters measured by cardiac MRI12 months post infusion of CAP-1002 or randomization to the usual care armFunctional composite assessed as: Serial change in mobility measurements and Performance of Upper Limb (PUL) scale, spirometry, and 6-minute walk test (6MWT) when deemed appropriate by the Investigator.12 months post infusion of CAP-1002 or randomization to the usual care armQuality of Life composite assessed as: Change in PedsQL (Pediatric Quality of Life Inventory), including the cardiac module, and PODCI Adolescent Questionnaire.12 months post infusion of CAP-1002 or randomization to the usual care armBiomarkers composite assessed as: Osteopontin, ST2, IL-10, Galectin-3, and exploratory biomarkers (if consented/provided assent).12 months post infusion of CAP-1002 or randomization to the usual care armFalse12FalseFalseFalseFalse NCT05996003NS-089/NCNP-02-201NS Pharma, Inc.INDUSTRYNS-089/NCNP-02-201 in Boys With Duchenne Muscular Dystrophy (DMD)2024-03RECRUITINGThis is a Phase 2, open-label, multi-center, 2-part study of NS-089/NCNP-02 administered by weekly IV infusion to ambulant boys aged ≥4 to \<15 years with DMD due to mutations amenable to exon 44 skipping. Participants will receive a selected dose of NS-089/NCNP-02 administered once weekly. The study consists of 2 parts: Part 1 and Part 2. Six participants (Cohort 1) will participate in both Part 1 and Part 2, and 14 participants (Cohort 2) will be added for Part 2.INTERVENTIONALInclusion Criteria: * Male ≥ 4 years and \<15 years of age * Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 44 to restore the dystrophin mRNA reading frame * Able to walk independently without assistive devices * Ability to complete the TTSTAND without assistance in \<7 seconds * Stable dose of glucocorticoid for at least 3 months and the dose is expected to remain on a stable dose for the duration of the study. * Other inclusion criteria may apply. Exclusion Criteria: * Has a body weight of \<20 kg at the time of informed consent (applies to participants screening for Part 1 only) * Evidence of symptomatic cardiomyopathy * Current or previous treatment with anabolic steroids (e.g., oxandrolone) or products containing resveratrol or adenosine triphosphate within 3 months prior to first dose of study drug * Current or previous treatment with any other investigational drug within 3 months prior to the first dose of study drug or within 5 times the half-life of a medication, whichever is longer * Surgery within the 3 months prior to the first dose of study drug or planned during the study duration * Previously treated in an interventional study of NS-089/NCNP-02 * Having taken any gene therapy or other exon-skipping oligonucleotide * Other exclusion criteria may apply.MALE2024-10-18T00:00:002023-07-182023-08-102024-03-272023-08-162024-03-292024-02-222025-11-282025-11-28trueTrueFalseThis is a Phase 2, open-label, multi-center, 2-part study of NS-089/NCNP-02 administered by weekly IV infusion to ambulant boys aged ≥4 to \<15 years with DMD due to mutations amenable to exon 44 skipping. Participants will receive a selected dose of NS-089/NCNP-02 administered once weekly. The study consists of 2 parts: Part 1 and Part 2. Six participants (Cohort 1) will participate in both Part 1 and Part 2, and 14 participants (Cohort 2) will be added for Part 2.Duchenne Muscular DystrophyPHASE220Adverse Event and Adverse Drug Reactionthrough study completion, up to follow-up phone call for Part 2Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Maximum plasma concentration (Cmax) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Time of the maximum plasma concentration (Tmax) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Terminal half-life (T1/2) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Area under the concentration-time curve from time 0 to the last time point (AUC0-t) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Area under the concentration-time curve from time 0 to infinity (AUC0-∞) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parameters[Time Frame: Day1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Total body clearance (CLtot) of NS-089/NCNP-02Plasma pharmacokinetic (PK) parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] The volume in the terminal state (Vz) of NS-089/NCNP-02Urine pharmacokinetic parametersDay1, Week4 for each dose for Part 1, Day1 and Week24 for Part 2] Urinary excretion of NS-089/NCNP-02Change from baseline in skeletal muscle dystrophin protein by immunoblot (Western blot).Baseline, Week25Change from baseline in skeletal muscle dystrophin protein by mass spectrometry.Baseline, Week25Change from baseline in skeletal muscle dystrophin protein levels by immunofluorescence staining.Baseline, Week25Change from baseline in percentage of exon 44-skipped mRNA of skeletal muscle dystrophinBaseline, Week25North Star Ambulatory Assessment (NSAA) scoreThe NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.Baseline, Week13, Week25Time to Run/Walk 10 Meters (TTRW)Baseline, Week13, Week25Time to Stand (TTSTAND)Baseline, Week13, Week25Total distance of 6 Minute Walk Test (6MWT)Baseline, Week13, Week25Time to Climb 4 Stairs (TTCLIMB)Baseline, Week13, Week25Muscle strength measured by Quantitative Muscle Testing (QMT)Baseline, Week13, Week25Grip and pinch strengthBaseline, Week13, Week25Performance of Upper Limb (PUL) 2.0. scoreThe PUL 2.0 provides both a total score and sub-scores for the 3 domains (shoulder, middle, and distal) that in DMD are progressively involved with a proximal to distal gradient. The PUL includes 22 items with an entry item to define the starting functional level. The 22 items are subdivided into the high-level shoulder dimension (6 items), middle level elbow dimension (9 items), and distal wrist and hand dimension (7 items). For weaker patients, a low score on the entry item (0-2) means high level items do not need to be performed. Scoring options vary across the scale between 0-1 and 0-2 according to performance. Each dimension can be scored separately with a maximum score of 12 for the high-level shoulder dimension, 17 for the middle level elbow dimension, and 13 for the distal wrist and hand dimension. A total score can be achieved by adding the 3 level scores (maximum total score of 42).Baseline, Week13, Week25False414FalseFalseFalseFalse NCT05683379RGX-202-0101REGENXBIO Inc.INDUSTRYAFFINITY BEYOND: Anti-AAV8 Antibody Assessment Study of Boys With DMD2024-07RECRUITINGThis is an observational screening study to evaluate the prevalence of anti-adeno-associated serotype 8 (AAV8) antibodies in participants with Duchenne muscular dystrophy (DMD).OBSERVATIONALInclusion Criteria: * Males at least 0 to \<12 years of age * Diagnosis of DMD * Provision of signed and dated informed consent form (ICF) and assent as required per local regulations or requirements Exclusion Criteria: * Prior participation in a gene therapy trial OR recipient of a gene therapy drug * Other inclusion/exclusion criteria applyMALE2024-10-18T00:00:002023-01-042023-01-122024-07-162023-01-132024-07-182022-12-202024-122024-12falseFalseTrueThis is an observational screening study to evaluate the prevalence of anti-adeno-associated serotype 8 (AAV8) antibodies in participants with Duchenne muscular dystrophy (DMD).Duchenne Muscular Dystrophy200Prevalence of anti-AAV8 antibodies in patients with DMD* To evaluate the prevalence of AAV8 antibodies in patients with DMD * To identify participants who may be eligible for investigational gene therapy clinical trials in males with DMD90 daysPrevalence of anti-AAV9 antibodies in patients with DMD• To evaluate the prevalence of AAV9 antibodies in patients with DMD90 daysFalse011FalseFalseFalseFalse NCT02835079DMDTAM001-HMO-CTILHadassah Medical OrganizationOTHERTreatment Effect of Tamoxifen on Patients With DMD2022-07COMPLETEDDuchenne muscular dystrophy (DMD) is a progressive devastating disease that affects mainly boys, with an incidence of about 1:3,500 live births. The pathology of DMD is a result of non-repaired muscle damage that leads to muscle-tissue replacement by scar tissue, a process known as fibrosis. Currently, there is no effective treatment for the disease. The only therapy offered to these boys are steroids which slightly delayed the disease progression. The boys lose their ability to walk at around the age of 12, and die in the 4th decade of life from severe heart and lung problems. In this study investigators will test the efficacy of Tamoxifen treatment in ambulatory DMD boys. Tamoxifen is a drug used for palliative treatment of breast cancer patients and has an outstanding safety profile. In addition, Tamoxifen was tested in the past in boys, for other pediatric indications, and showed an excellent safety with no side effects. Tamoxifen is being tested in this study, as a therapy for DMD, for the following reasons: (i) it was shown to have anti-fibrotic effect in multiple in-vivo systems; (ii) it assists in the repair of damaged muscles. In other words, Tamoxifen is expected to have a synergistic effect on DMD patients, due to its dual mechanism of action. Indeed, Tamoxifen was shown to have significant beneficial effects in the mdx mouse model of DMD. Also, a small compassionate cohort of 3 boys, treated for 6 months with Tamoxifen, yielded very encouraging results.INTERVENTIONALInclusion Criteria: * Ambulatory Exclusion Criteria: * Non AmbulatoryMALE2024-10-18T00:00:002016-06-222016-07-132022-07-212016-07-152022-07-252016-112020-112020-11falseFalseFalseDuchenne muscular dystrophy (DMD) is a progressive devastating disease that affects mainly boys, with an incidence of about 1:3,500 live births. The pathology of DMD is a result of non-repaired muscle damage that leads to muscle-tissue replacement by scar tissue, a process known as fibrosis. Currently, there is no effective treatment for the disease. The only therapy offered to these boys are steroids which slightly delayed the disease progression. The boys lose their ability to walk at around the age of 12, and die in the 4th decade of life from severe heart and lung problems. In this study investigators will test the efficacy of Tamoxifen treatment in ambulatory DMD boys. Tamoxifen is a drug used for palliative treatment of breast cancer patients and has an outstanding safety profile. In addition, Tamoxifen was tested in the past in boys, for other pediatric indications, and showed an excellent safety with no side effects. Tamoxifen is being tested in this study, as a therapy for DMD, for the following reasons: (i) it was shown to have anti-fibrotic effect in multiple in-vivo systems; (ii) it assists in the repair of damaged muscles. In other words, Tamoxifen is expected to have a synergistic effect on DMD patients, due to its dual mechanism of action. Indeed, Tamoxifen was shown to have significant beneficial effects in the mdx mouse model of DMD. Also, a small compassionate cohort of 3 boys, treated for 6 months with Tamoxifen, yielded very encouraging results.Duchenne Muscular DystrophyPHASE1196-minute walk distance (6MWD)PT evaluationThe six minute walk distance will be tested during the 36 months of the trial. For the first 12 months, the 6 minute walk test will be tested every 3 months and for the follow up period of 24 months,will be done every 6 months.North Star assesment(NSAA)PT evaluationThe NSAA will be tested during the 36 months of the trial. For the first 12 months, the NSAA will be tested every 3 months and for the follow up period of 24 months,will be done every 6 months.False516FalseFalseTrueFalse NCT00847379PTC124-GD-007e-DMDPTC TherapeuticsINDUSTRYPhase 2B Extension Study of Ataluren (PTC124) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)2020-06TERMINATEDDuchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, and other important clinical and laboratory measures.INTERVENTIONALInclusion Criteria: * Completion of blinded study drug treatment in the previous Phase 2b study (PTC124-GD-007-DMD). * Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if less than \[\<\]18 years of age). * In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during PTC124 administration and the 6-week follow up period. * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: * Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], magnesium stearate). * Ongoing participation in any other therapeutic clinical trial. * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002009-02-162009-02-182020-06-262009-02-192020-07-152009-01-312010-05-242010-05-24trueDuchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b extension trial that will evaluate the long-term safety of ataluren (PTC124) in boys with nonsense mutation DMD/BMD, as determined by adverse events and laboratory abnormalities. The study will also assess changes in walking, muscle function, and other important clinical and laboratory measures.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE2173Number of Participants With Treatment-Emergent Adverse Events (AEs)An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Severity of an AE was classified as: mild (does not interfere with usual function), moderate (interferes to some extent with usual function) and severe (interferes significantly with usual function). Drug-related AEs: AEs with a possible or probable relationship to study drug. Serious AEs: death, a life-threatening AE, inpatient hospitalization or prolongation of existing hospitalization, persistent or significant disability or incapacity, a congenital anomaly or birth defect, or an important medical event that jeopardized participant and required medical intervention. TEAE: AE that occurred or worsened in the period extending from first dose of study drug in this study to 6 weeks after last dose of study drug in this study. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.Baseline (Week 48 of Study 007) up to Week 102Number of Participants With Clinically Significant Abnormal Laboratory ParametersLaboratory parameters tests included hematology, biochemistry assay (hepatic, renal, and serum electrolyte values), adrenal assays, and urinalysis. Clinical significance was defined as per investigator's judgement.Baseline (Week 48 of Study 007) up to Week 102Change From Baseline in 6-Minute Walk Distance (6MWD) at Week 60The 6MWD test was performed in a 30 meters long flat corridor, where the participant was instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Mean Activity Period/Day/Visit at Week 60, as Assessed by Step Activity Monitoring (SAM)The SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean activity period/day/visit was computed for each participant. For each day, an active period was defined as the first time after 3:00 AM that greater than (\>) 2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was less than (\<) 50 percent (%) of the mean active period across all days for that participant's visit.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Mean Total Step Count/Day/Visit During the Active Periods at Week 60, as Assessed by SAMThe SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean total step count/day/visit during the active periods was computed for each participant. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Mean Total Step Count/Hour During the Active Period at Week 60, as Assessed by SAMThe SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean total step count/hour during the active periods for the days in a visit was computed for each participant. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Maximum Continuous 10-minute, 20-minute, 30-minute, and 60-minute Total Step Count at Week 60, as Assessed by SAMSAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). The maximum continuous 10-minute, 20-minute, 30-minute, and 60-minute total step counts were computed for each participant. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Percentage of Time During Active Period Spent at No Activity (0 Steps/Minute[Min]), Low Activity (Less Than or Equal to [≤]15 Steps/Min), Medium Activity (16-30 Steps/Min), and High Activity (Greater Than[>]30 Steps/Min) at Week 60SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear SAM for at least 9 consecutive days. SAM was used to record number of strides/minute following each visit. A stride is leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again. Percentage of time during active periods spent at no activity (0 steps/min), low activity (≤15 steps/min), medium activity (16-30 steps/min), and high activity (\>30 steps/min) were computed for each participant. For each day, an active period was defined as first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Time to Stand From Supine Position at Week 60If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Time to Walk/Run 10 Meters at Week 60If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Time to Climb 4 Stairs at Week 60If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Time to Descend 4 Stairs at Week 60If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Heart Rate Before, During, and After Each 6MWD Test at Week 60, as Assessed by Heart Rate Monitoring With the Polar® RS400The heart rate was measured with a Polar RS400 heart rate monitor, which consists of a transmitter strap worn around the chest and a wristwatch receiver. The monitor produces a digital text file with 1 value per minute that represents the mean heart rate for that minute. Mean heart rates values were collected prior to, during, and after the 6MWT. The participant rested for 5 minutes in a sitting position prior to the 6MWT, and the mean heart rate for the last minute of this rest period was collected and documented as the resting heart rate. During the 6MWT, the mean heart rate was collected and documented as the active heart rate. After completing the 6MWT and resting for 3 minutes, the mean heart rate for 1 minute was collected and documented as the recovery heart rate.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Number of Digits Recalled Forwards and Backwards on Digit Span Task at Week 60Basic attention and working memory was measured using the digit span task. A series of digits (0-9) were presented to the child in an auditory format only. The task had 2 parts; in the forward condition, the child was requested to repeat back the digits in the order they were presented and in the backward condition, he was requested to reverse the order of presentation. A raw score of the total number of correct responses was converted to an age-scaled-score (z-score) by subtracting the corresponding mean and dividing by the corresponding standard deviation of a reference population for that age.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Participant- Reported Health-Related Quality of Life (HRQL) as Measured by the Pediatric Quality of Life Inventory (PedsQL) Physical, Emotional, Social, and School Functioning Domain Scores at Week 60HRQL was measured via the PedsQL. The generic core module (including physical, emotional, social and school functioning scales) comprises 23 questions and the fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Examples of items in each of the generic core module scales include: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point Likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating better health-related quality of life. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 60.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Parent/Caregiver- Reported HRQL as Measured by the PedsQL Physical, Emotional, Social, and School Functioning Domain Scores at Week 60HRQL was measured via the PedsQL. The generic core module (including physical, emotional, social and school functioning scales) comprises 23 questions and the fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Examples of items in each of the generic core module scales include: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating better health-related quality of life. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Participant-Reported HRQL as Measured by the Total Fatigue Scale Score at Week 60HRQL was measured via the PedsQL. The fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. PedsQL was completed by both the participant and/or a parent/caregiver. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time;" Each of the fatigue-specific module items was scored on a 5-point Likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating less fatigue. Total score was the sum of all items over the number of items answered on all scales. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 60.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Parent/Caregiver-Reported HRQL as Measured by the Total Fatigue Scale Score at Week 60HRQL was measured via the PedsQL. The fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time;" Each of the fatigue-specific module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating less fatigue. Total score was the sum of all items over the number of items answered on all scales. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 60.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Participant and Parent/Caregiver Reported Activities of Daily Living of Participants Who Were Unable to Complete the 6MWT (Nonambulatory Participants), as Measured by the Egen Klassifikation (EK) Scale at Week 60Activities of daily living were measured using the EK scale in all participants who were unable to complete the 6MWT at Screening/Baseline on Day 1. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move the arms, 6) ability to use the hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performed the tasks of daily life (as described by Categories 1 to 9) and how he perceived his well-being (as described by Category 10).Baseline (Week 48 of Study 007), Week 60Change From Baseline in Parent/Caregiver-Reported Treatment Satisfaction Questionnaire for Medication (TSQM) Score at Week 60TSQM consisted of 14 questions about treatment satisfaction with drug in 4 domains: Effectiveness (Questions 1-3 scored as 1 \[extremely dissatisfied\] to 7 \[extremely satisfied\]), Side Effects (question 4 scored as 0 \[no\] or 1 \[yes\]; question 5 scored as 1 \[extremely bothersome\] to 5 \[not at all bothersome\]; questions 6 - 8 scored as 1 \[a great deal\] to 5 \[not at all\]), Convenience (questions 9 and 10 scored as 1 \[extremely difficult\] to 7 \[extremely easy\]; question 11 scored as 1 \[extremely inconvenient\] to 5 \[extremely convenient\]) and Global Satisfaction (question 12 scored as 1 \[not at all confident\] to 7 \[extremely confident\]; question 13 scored as 1 \[not at all certain\] to 5 \[extremely certain\]; question 14 scored as 1 \[extremely dissatisfied\] to 5 \[extremely satisfied\]). The scores of each of the domains were added together and an algorithm was used to create a score of 0 to 100, with higher scores indicating better treatment satisfaction.Baseline (Week 48 of Study 007), Week 60Change From Baseline in Serum Concentration of Creatine Kinase (CK) at Week 60Blood samples collected for chemistry assays were used to quantify serum CK concentrations. Serum CK was assessed as a potential biomarker for muscle fragility, with a reduction in serum CK considered to be a positive outcome.Baseline (Week 48 of Study 007), Week 60Study Drug ComplianceStudy drug compliance was assessed by participant daily diary and quantification of used and unused study drug. Compliance was assessed in terms of the percentage of drug actually taken relative to the amount that should have been taken during the study.Baseline (Week 48 of Study 007) to Week 96Trough Ataluren Plasma ConcentrationPlasma samples for the determination of ataluren concentrations were analyzed at the bioanalytical laboratory for ataluren parent drug using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC/MS-MS) method with a lower limit of quantitation (LLOQ) of 0.5 micrograms/millilitre (mcg/mL). Values below the LLOQ were set to 0.Pre-morning dose (0 hour) at Baseline (Week 48 of 007 study), Weeks 54, 60, 72, 84, and 96False5FalseFalseFalseTrue NCT0658188721/WM/0267University College, LondonOTHERDefining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies2024-08RECRUITINGStudy aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,OBSERVATIONALInclusion Criteria: * DMD patients: 1. Male 2. Age range 7-17 years 3. A genetically proven diagnosis of DMD. 4. A genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-). 5. Ability to consent/assent BMD patients: 1. Male 2. Age range 7-17 years 3. A genetically proven diagnosis of BMD. 4. A genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2). 5. Ability to consent/assent Control participants: 1. Male 2. Age range 7-17 years. 3. Ability to consent/assent Exclusion Criteria: * DMD \& BMD patients: 1. Significant visual or hearing impairment 2. Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study 3. Current participation in a clinical trial investigating a new drug involved in dystrophin modulation. 4. Inability to consent (for parents/guardians or self-reporting participants aged 16 and 17) or assent. This will exclude the rare individuals with extremely severe learning disability, as the assent in these patients is impossible (or the consent in self-reporting participants aged 16 and 17). Control participants: 1. Significant visual or hearing impairment 2. Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study 3. Any diagnosis of neurological or psychiatric condition General exclusion criteria for MRI: 1. Claustrophobia 2. Pacemakers and defibrillators 3. Nerve stimulators 4. Intracranial clips 5. Intraorbital or intraocular metallic fragments 6. Cochlear implants 7. Ferromagnetic implants (e.g. thoracic implant for scoliosis) 8. Inability to lie supine during less than 45 minutes 9. Not having a general practitioner 10. Severe learning disability which will require a general anaestheticMALE2024-10-18T00:00:002024-08-082024-08-292024-08-292024-09-032024-09-032022-09-132024-11-192024-12-31falseFalseFalseStudy aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,DMD;BMD100Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.Following an emotional response task, an interim analysis will be done after the first 30 patients have been tested (10 DMD, 10 BMD, 10 controls). A favourable outcome will demonstrate a difference in the emotional response of these groups. Groups will complete questionnaires, an emotional response task, and a fine motor assessment.through study completion, an average of 2 yearsTo observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinctionThis will be measured by analysis measuring any difference between and within groups (10 BMD, 10 DMD and 10 control). Physiological responses generated by the task will be measured, along with neural imaging.through study completion, an average of 2 yearsTrue717FalseFalseFalseFalse NCT04054375STU00208443Northwestern UniversityOTHERWeekly Steroids in Muscular Dystrophy2023-09COMPLETEDThe purpose of this study is to evaluate the safety and efficacy of oral weekly glucocorticoid steroids in patients with Becker Muscular Dystrophy (BMD), an inherited disorder in which patients experience weakness of the legs and pelvis, and Limb Girdle Muscular Dystrophy (LGMD), an inherited disorder in which patients experience progressive muscular weakness predominately in their hip and shoulders. The primary objective is safety which we the investigators will measure using laboratory testing and forced vital capacity (FVC), a breathing test that measures the strength of your lungs. The secondary objective is efficacy which will be measured by a change in MRI muscle mass, improved muscle performance, and quality of life. The investigators hypothesize that patients who receive oral weekly glucocorticoid steroids will have improviements in strength and quality of life compared to their baseline. Furthermore, the investigators anticipate that oral weekly glucocorticoid steroids will not have significant adverse impact on patients.INTERVENTIONALInclusion Criteria: 1. Patients with Becker muscular dystrophy or LGMD2A (CAPN3), LGMD 2B (DYSF), LGMD 2C (SGCG), LGMD2E (SGCB), LGMD2F (SGCD), LGMD 2I (FKRP), LGMD (ANO5). Genetic mutation or muscle biopsy staining required to confirm genetic subtype 2. Ages 18-65 years 3. EKG without evidence of prior infarct or atrial fibrillation done within 2 months of study initiation. 4. Echocardiogram with LVEF \>25% done within 6 months of study initiation. 5. Stable medications (same medication and dose) for the previous 3 months 6. Stable pulmonary status for the previous 6 months (No change in FVC by more than 20% in the past 6-months) Exclusion Criteria: 1. Diabetes 2. BMI\>35 kg/m2 3. Cardiac transplantation 4. Myocardia Infarct in the past 2-years from screening 5. Any history of tuberculosis 6. Untreated or uncontrolled (medication and/or dose change in previous month from screening) hypertension 7. A diagnosis of congestive heart failure 8. A diagnosis of chronic kidney disease 9. A diagnosis of untreated hypothyroidism 10. The patient is believed to be at high risk of osteoporosis by the primary investigator 11. Inability to provide consent 12. Full time ventilator dependency 13. Heart failure symptoms or LVEF \<25% 14. Orthopedic surgery within the prior year or upcoming elective orthopedic surgery within the 6-months from Day 0. 15. Inability to complete MRI (claustrophobia, metal implants) 16. Pregnant women at screening, women seeking to become pregnant, or men seeking to father a child within 6-months from Day 0 should not participate in this study.ALL2024-10-18T00:00:002019-08-072019-08-122023-09-192019-08-132023-09-212019-07-012020-06-012022-03-01trueTrueFalseThe purpose of this study is to evaluate the safety and efficacy of oral weekly glucocorticoid steroids in patients with Becker Muscular Dystrophy (BMD), an inherited disorder in which patients experience weakness of the legs and pelvis, and Limb Girdle Muscular Dystrophy (LGMD), an inherited disorder in which patients experience progressive muscular weakness predominately in their hip and shoulders. The primary objective is safety which we the investigators will measure using laboratory testing and forced vital capacity (FVC), a breathing test that measures the strength of your lungs. The secondary objective is efficacy which will be measured by a change in MRI muscle mass, improved muscle performance, and quality of life. The investigators hypothesize that patients who receive oral weekly glucocorticoid steroids will have improviements in strength and quality of life compared to their baseline. Furthermore, the investigators anticipate that oral weekly glucocorticoid steroids will not have significant adverse impact on patients.Limb-girdle Muscular Dystrophy;Becker Muscular DystrophyPHASE220Fasting Glucosemg/dL, 0-unlimited, higher score indicates worse outcomeBaseline and 6 months (Final Visit)HbgA1c% , 0-100, higher score indicates worse outcomeBaseline and 6 months (Final Visit)Fasting Lipid Profilecholesterol levels - mg/dL, higher levels indicate worse outcomesBaseline and 6 months (Final Visit)Creatine Kinaseunits/L, 0-unlimited, higher scores indicate worse outcomeBaseline and 6 months (Final Visit)Respiratory ChangesForce Vital Capacity (% of predicted value), decrease in FVC indicates declining respiratory function.Baseline, 6 monthsFunctional Assessments - NSAD ChangeNorthstar Assessment for Dysferlinopathy - score out of 58, range from 0 to 58, higher score indicates greater functional ability.Baseline, Month 66 Minute Walk Testnumber of meters walked in 6 minute period. Higher values indicate more motor function.Baseline, Month 610 Meter Run Timedtime in seconds to walk/run 10 meters , less time to run indicates greater motor functionBaseline, Month 6Brooke Scale Scoreupper extremity assessment, scoring between 1- 6, lower score indicates more upper extremity functionBaseline, Month 6Vignos Scale ScoreLower extremity assessment, score from 1-10, lower score indicates more function.Baseline, Month 6Muscle ImagingMRI of leg muscles to measure changes in muscle fat percentage. The data point was collected by taking fat percentage at 6 months minus fat percentage at baseline with the following equation: ((\[final fat percentage - initial fat percentage\]/initial fat percentage) \* 100%)). All participants were included, both ambulatory and nonambulatory, with all genetic subtypes included. Five participants didn't have an MRI scan at 6 months and therefore were not included. Muscles imaged were analyzed for muscle fat changes from baseline to 6 months. Data is limited in interpretation due to various muscle groups in both ambulatory and non-ambulatory patients.Baseline, 6 monthsBone Densitywhole dexa body scan to assess bone density with Z scores (more negative z score indicates increased risk for fractures). Z-score of 0 represents the population mean, and is the average bone density. Positive scores indicate greater bone density and negative scores indicate decreased bone density, which could be clinically correlated with osteoporosis.Baseline, 6 monthsLean Mass %whole body dexa scans to assess lean mass % (0- 100 %). Increase lean mass % is the desired outcome.Baseline, 6 monthsFunctional Assessments - Upper Limb StrengthGrip strength of the total force (Newtons) in both hands. Participants attempted 3 trials in the right hand that was then averaged to create a right-hand average force score. Then, the participants attempted 3 trials in the left hand that was then averaged to create a left-hand average force score. The right-hand average force score was added to the left-hand average force score to create a total grip strength score.Baseline and 6 monthsMuscle Strength TestManual motor testing of the right knee flexion muscle group.baseline, 6 monthsFalse1865FalseFalseFalseFalse NCT027890592013_29University Hospital, LilleOTHERMuscle Oxygenation in Effort in Neuromuscular Diseases2017-05UNKNOWNPrevious studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin. Our study aim at assessing muscle oxygenation during effort in different neuromuscular diseases (muscular dystrophies related and not related to dystrophin, non dystrophic myopathies and motor neuron diseases) compared to a group of healthy controls. Patients and controls are invited to perform an inframaximal , standardized effort of the knee extensors by the mean of an isokinetic dynamometer. Muscle oxygenation parameters are assessed through a Near Infrared Spectroscopy (NIRS) Device. In patients affected by dystrophin related myopathies, a muscle biopsy will be performed in order to analyse mitochondrial oxygenation parameters and mitochondrial phenotype. Our Hypothesis is that muscle oxygenation is impaired in dystrophin related muscular dystrophies compared to other neuromuscular diseases and healthy controls because of lack of muscle capillary vessels dilatation during effort and impairment of mitochondrial function.INTERVENTIONALInclusion Criteria: * healthy subjects and * subjects affected by one of the fallowing neuromuscular diseases: Becker Muscular dystrophy Facioscapulohumeral dystrophy, Limb Girdle Muscular Dystrophy , Congenital Myopathy , Spinal Muscular Atrophy Charcot Marie Tooth Disease and Amyotrophic Lateral Sclerosis , * able to walk * presenting a manual muscle testing of at Least 4/5 on the quadriceps according to the Medical research Council Exclusion Criteria: * musculoskeletal pain of the quadriceps * other neurological disorders * Heart failure arrhythmia, uncontrolled hypertension, angina pectoris * dyspnoea \>2 according to the NYHA * Peripheral artery disease * BMI \>30kg.m-2.MALE2024-10-18T00:00:002016-05-242016-05-262017-05-182016-06-022017-05-192015-07-022017-072017-07falsePrevious studies showed modifications of muscle oxygenation parameters in muscular dystrophies du to an impairment or an absence of dystrophin. Our study aim at assessing muscle oxygenation during effort in different neuromuscular diseases (muscular dystrophies related and not related to dystrophin, non dystrophic myopathies and motor neuron diseases) compared to a group of healthy controls. Patients and controls are invited to perform an inframaximal , standardized effort of the knee extensors by the mean of an isokinetic dynamometer. Muscle oxygenation parameters are assessed through a Near Infrared Spectroscopy (NIRS) Device. In patients affected by dystrophin related myopathies, a muscle biopsy will be performed in order to analyse mitochondrial oxygenation parameters and mitochondrial phenotype. Our Hypothesis is that muscle oxygenation is impaired in dystrophin related muscular dystrophies compared to other neuromuscular diseases and healthy controls because of lack of muscle capillary vessels dilatation during effort and impairment of mitochondrial function.Neuromuscular DiseasesNA170muscle oxygenationlevel of deoxyhemoglobin assessed with the NIRS device during the isokinetic effort of the knee extensorson the day of first evaluation Visit V1Muscle oxygenationkinetics of the deoxyhemoglobin assessed with the NIRS device during the isokinetic effort of the knee extensorson the day of first evaluation Visit V1maximal isokinetic strength of the knee extensorsmeasurements of the maximal moment during a maximal effort of the knee extensors with an isokinetic dynamometeron the day of first evaluation Visit V1Gas exchangemeasurements of O2 and CO2 exchanges during the isokinetic efforton the day of first evaluation Visit V1MFM scoreMotor Function Measure score (in %) assessment. quantitative scale that makes it possible to measure the functional motor abilities of a person affected by a neuromuscular disease.on the day of first evaluation Visit V16 Minutes Walking Test (MWT)assessment of the time performed during a 6 minutes walking teston the day of first evaluation Visit V1Vignos functional scalesassesment of the 1 to 6 Vignos score for the lower limb functional assesmenton the day of first evaluation Visit V1Brooke functional scalesthe 1 to 10 Brooke score for upper limb functional assesmenton the day of first evaluation Visit V1Medical Research Council Muscle testingAssesment of the Medical Research Council 1 to 5 Muscle testing score of the quadriceps muscleson the day of first evaluation Visit V1Mitochondrial phenotypeMitochondrial respiration (O2 consumption) of muscle fibers of the vastus lateralisat V2 at least 1 week after V1Mitochondrial H2O2 productionMitochondrial H2O2 production of muscle fibers of the vastus lateralisat V2 at least 1 week after V1kinetic of Muscle oxygenationkinetic of level of deoxyhemoglobin during the isokinetic effort of the extensors of the kneeon the day of first evaluation Visit V1True1870FalseFalseFalseFalse NCT03340675CPI-IFE-007Cumberland PharmaceuticalsINDUSTRYOral Ifetroban in Subjects With Duchenne Muscular Dystrophy2023-09RECRUITINGDuchenne muscular dystrophy (DMD) is a devastating X-linked disease which leads to loss of ambulation between ages 7 and 13, respiratory failure and cardiomyopathy (CM) at any age, and inevitably premature death of affected young men in their late twenties. DMD is the most common fatal genetic disorder diagnosed in childhood. It affects approximately 1 in every 3,500 live male births across all races and cultures, and results in 20,000 new cases each year worldwide.Significant advances in respiratory care have unmasked CM as the leading cause of death. As there are yet no specific cardiac treatments to extend life, the current study aims to address this unmet medical need using a new therapeutic strategy for patients with DMD. Funding Source - FDA OOPDINTERVENTIONALInclusion criteria: 1. Males 7 years of age and older with the diagnosis of DMD, defined as phenotype consistent with DMD and either positive genotype, first degree relative with positive genotype, or confirmatory muscle biopsy. 2. Stable dose of oral corticosteroids for at least 8 weeks or has not received corticosteroids for at least 30 days. 3. Stable cardiac function defined as change in left ventricular ejection fraction (LVEF) of \< 15% and no heart failure admission over the last 12 months; LVEF 35% or greater by cine cardiac magnetic resonance imaging (MRI) or echocardiography; myocardial damage in one or more left ventricular segments evident by late gadolinium enhancement allowed; concurrent angiotensin-converting enzyme inhibitors (ACEI), beta-blocker (BB) or angiotensin receptor blocker (ARB) therapy allowed (selection of which dictated by clinical care) if started three months or greater from first dose of IMP without change in dose. Aldosterone receptor antagonists (eg. Spironolactone or eplerenone) allowed if started 12 months or greater from first dose of Investigational Medicinal Product (IMP). No changes throughout the study allowed, except in the event of a decline in left ventricular ejection fraction (LVEF) \>5% following the baseline CMR as measured by a subsequent CMR at the same center. Should this occur, changes in cardiac medications are allowed on the study. a. Late-stage cohort: Subjects are eligible for the late-stage cohort if the subject has: i. LVEF 35%-45% by cine cardiac magnetic resonance imaging (MRI) or echocardiography or ii. historically documented LVEF 35%-45% by cine cardiac magnetic resonance imaging (MRI) or echocardiography and if their baseline MRI is less than 50%. 4. Subjects aged 18 years and older, informed consent obtained directly. For subjects ages 7-17 years old (yo), both assent from the subject and permission from a parent or guardian. Exclusion criteria: 1. Clinically significant illness other than DMD 2. Clinically significant laboratory abnormality not associated with DMD 3. Major surgery within six weeks prior to the first dose of study drug, or planned surgery during this study which would interfere with the ability to perform study procedures 4. Require antiarrhythmic therapy and/or initiation of diuretic therapy for management of acute heart failure in the last 6 months 5. A LVEF of \< 35% by Cardiac Magnetic Resonance Imaging (CMR) and/or fractional shortening of \< 15% based on echocardiography (ECHO) during screening 6. A known bleeding disorder or has received anticoagulant treatment within 2 weeks of study entry 7. Allergy to gadolinium contrast or known renal insufficiency defined as abnormal cystatin C or creatinine above the upper limit of normal for age. The male serum reference ranges as follows: * Age 7-9 years - 0.2-0.6 mg/dL * Age 10-11 years - 0.3-0.7 mg/dL * Age 12-13 years - 0.4-0.8 mg/dL * Age 14-15 years - 0.5-0.9 mg/dL * Age 16 years or older - 0.8-1.3 mg/dL 8. Non-MR compatible implants (e.g. neurostimulator, automatic implantable cardioverter-defibrillator \[AICD\]) 9. Subjects who participated in a therapeutic clinical trial within 30 days or five half-lives (whichever is longer) of study entry 10. Any other condition that could interfere with the subject's participationMALE2024-10-18T00:00:002017-11-032017-11-082024-05-032017-11-132024-05-062020-10-192024-08-312024-08-31trueTrueFalseDuchenne muscular dystrophy (DMD) is a devastating X-linked disease which leads to loss of ambulation between ages 7 and 13, respiratory failure and cardiomyopathy (CM) at any age, and inevitably premature death of affected young men in their late twenties. DMD is the most common fatal genetic disorder diagnosed in childhood. It affects approximately 1 in every 3,500 live male births across all races and cultures, and results in 20,000 new cases each year worldwide.Significant advances in respiratory care have unmasked CM as the leading cause of death. As there are yet no specific cardiac treatments to extend life, the current study aims to address this unmet medical need using a new therapeutic strategy for patients with DMD. Funding Source - FDA OOPDDuchenne Muscular Dystrophy Cardiomyopathy;Cardiomyopathy, DilatedPHASE248Incidence of Treatment-Emergent Adverse Events (safety & tolerability)Percentage of subjects with one or more treatment emergent adverse eventBaseline through 12 monthsPharmacokinetics Area under the curveMeasurements of Area under the curve concentration of ifetroban and its acyl glucuronide metaboliteDay 0 and Day 7Pharmacokinetics maximum serum concentration (Cmax)Measurements of maximum serum concentration (Cmax) of ifetroban and its acyl glucuronide metaboliteDay 0 and Day 7Pharmacokinetics time to reach Cmax (Tmax) concentrationMeasurement of time to reach Cmax (Tmax) concentration of ifetroban and its acyl glucuronide metaboliteDay 0 and Day 7Pharmacokinetics plasma terminal half-life concentrationMeasurement of plasma terminal half-life concentration of ifetroban and its acyl glucuronide metaboliteDay 0 and Day 7Change from baseline in left ventricular ejection fractionThere should be no change in left ventricular ejection fraction. Patients with DMD have a decline.Baseline through 12 monthsChange from baseline in pulmonary functionChange from baseline in forced expiratory volume in 1 secondBaseline through 12 monthsChange from baseline in quality-of-lifeThe 23 items Pediatric Quality of Life Inventory (PedQL) questionnaire measures these core dimensions of health as delineated by the World Health Organization, as well as role (school) functioning. Items measured include 1) Physical Functioning (8 items), 2) Emotional Functioning (5 items), 3) Social Functioning (5 items), and 4) School Functioning (5 items). Each item is measured on a 5 point Likert scale with 0 indicating never and 4 indicating almost always.The Likert scores are reversed scored and linearly transform to a 0-100 scale with 0=100, 1-75, 2=50, 5=25, and 4=0. A higher score indicates better health-related quality of life.Baseline through 12 monthsFalse7TrueTrueFalseFalse NCT02069756DC-PPMD-2013The Duchenne RegistryOTHERThe Duchenne Registry2023-09RECRUITINGThe Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.OBSERVATIONALInclusion Criteria: * Diagnosis of Duchenne or Becker muscular dystrophy; Manifesting female carriers and asymptomatic female carriers also included in registry. Exclusion Criteria: * Diagnosis of any other type of muscular dystrophy (including limb-girdle muscular dystrophy).ALL2024-10-18T00:00:002013-09-232014-02-202023-09-082014-02-242023-09-132007-102027-102047-10trueFalseFalseThe Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy10000Genetic variantGenetic variant data is collected by patient report and verified by curation/review of genetic test report when provided. Genetic test report is requested for each registrant and is required for participation in global DMD (TREAT-NMD) registry.Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.Ambulation statusAmbulation status is assessed from several questions about mobility, ability to sit and stand, use of assistive devices, and age at full time wheelchair use.Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime.FalseFalseFalseFalseFalse NCT06597656SRP-9001-105Sarepta Therapeutics, Inc.INDUSTRYA Gene Transfer Therapy to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Therapeutic Plasma Exchange (Plasmapheresis) in Participants With Duchenne Muscular Dystrophy (DMD) and Pre-existing Antibodies to AAVrh742024-10RECRUITINGThis is a gene transfer therapy study evaluating the safety of and delandistrogene moxeparvovec dystrophin protein expression from delandistrogene moxeparvovec following therapeutic plasma exchange (plasmapheresis) in ambulatory male participants with DMD and pre-existing antibodies to AAVrh74 over a period of 58 weeks.INTERVENTIONALInclusion Criteria: * Ambulatory per protocol specified criteria. * Has a definitive diagnosis of DMD prior to Screening based on documentation of clinical findings and prior confirmatory genetic testing. * Ability to cooperate with motor assessment testing. * Has elevated AAVrh74 antibody titers per protocol-specified requirements. * A pathogenic frameshift mutation, nonsense mutation or premature stop codon or pathogenic variant in the DMD gene that is expected to lead to absence of dystrophin protein with exception of a mutation in exon 8 and/or 9. * Stable daily dose of oral corticosteroids for at least 12 weeks prior to Screening, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight). Exclusion Criteria: * Has reduced left ventricular ejection fraction on the screening ECHO or clinical signs and/or symptoms of cardiomyopathy. * Presence of any other clinically significant illness, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for gene transfer or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability. * Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits. * Abnormality in protocol-specified diagnostic evaluations or laboratory tests. . Note: Other inclusion or exclusion criteria could apply.MALE2024-10-18T00:00:002024-09-122024-09-122024-10-152024-09-192024-10-162024-09-182025-11-302026-08-31trueTrueFalseThis is a gene transfer therapy study evaluating the safety of and delandistrogene moxeparvovec dystrophin protein expression from delandistrogene moxeparvovec following therapeutic plasma exchange (plasmapheresis) in ambulatory male participants with DMD and pre-existing antibodies to AAVrh74 over a period of 58 weeks.Duchenne Muscular DystrophyPHASE116Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression Adjusted by Muscle Content Biopsied Muscle as Measured by Western BlotBaseline, Week 12Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by Immunofluorescence (IF) Fiber IntensityBaseline, Week 12Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by IF Percent Dystrophin-positive Fibers (PDPF)Baseline, Week 12Mean Concentration of Vector Genome Copies Using Polymerase Chain Reaction in Muscle Tissue Biopsy, After Delandistrogene Moxeparvovec AdministrationWeek 12Number of Participants with a Treatment Emergent Adverse Event (TEAE), Adverse Event of Special Interest (AESI), and Serious Adverse Event (SAE)Baseline up to End of Study (Up to Week 58)Change from Baseline in rAAVrh74 Antibody TitersBaseline, Week 1False48TrueFalseTrueFalse NCT03603288SNT-III-012-ESanthera PharmaceuticalsINDUSTRYPhase III Study With Idebenone in Patients With Duchenne Muscular Dystrophy (SIDEROS-E)2021-11TERMINATEDThe purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study.INTERVENTIONALInclusion Criteria: 1. Completion of the SIDEROS study at Visit 8/ Week 78 2. Signed and dated Informed Consent Form for SIDEROS-E Exclusion Criteria: 1. Patients who discontinued SIDEROS study prematurely (i.e. did not attend all visits from V1 to V8) 2. Safety, tolerability or other issues arising during the course of the SIDEROS study which in the opinion of the Investigator may put the patient at significant risk or may interfere significantly with the patient's participation in the SIDEROS-E study 3. Use of any investigational drug other than the study medicationMALE2024-10-18T00:00:002018-05-312018-07-262021-11-242018-07-272021-12-032018-07-042020-11-252020-11-25trueTrueFalseThe purpose of the study is to assess the long-term safety and efficacy of idebenone in patients with Duchenne muscular dystrophy (DMD) who completed the SIDEROS study.Duchenne Muscular DystrophyPHASE3161Incidence and severity of adverse events, as per ICH Topic E2ATo assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Incidence and severity of adverse events, as per ICH Topic E2ATo assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.4 weeks after discontinuation of treatmentNumber of patients with premature discontinuations of study treatment due to adverse events.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Number of patients with abnormal safety laboratory parameters.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Number of patients with abnormal safety laboratory parameters.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.4 weeks after discontinuation of treatmentNumber of patients with abnormal vital signs.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Number of patients with abnormal vital signs.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.4 weeks after discontinuation of treatmentNumber of patients with abnormal ECG.To assess the long-term safety of idebenone in DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Change from Baseline in Forced Vital Capacity (FVC) as percent of predicted (FVC%p).To describe the long-term evolution of respiratory function in idebenone-treated DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Change from Baseline in Peak Expiratory Flow (PEF) as percent of predicted (PEF%p)To describe the long-term evolution of respiratory function in idebenone-treated DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)Change from Baseline in Forced Expiratory Volume in 1 second (FEV1) as percent of predicted (FEV1%p)To describe the long-term evolution of respiratory function in idebenone-treated DMD patients who completed the SIDEROS study.From baseline until visit 4 (week 78)False11FalseFalseFalseFalse NCT02810028PB-PG-061331085King's College Hospital NHS TrustOTHERAcceptance and Commitment Therapy for Muscle Disease2019-08COMPLETEDIn adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases. However, there has been limited research to evaluate interventions that may improve quality of life (QoL) with this patient group. The QoL of those with MD is not just affected by the severity of their MD but also a variety of psychological variables. Based upon the knowledge of these psychological variables the investigators feel that a particular type of psychological intervention known as "acceptance and commitment therapy" (ACT) could potentially improve QoL in those with MD. The investigators therefore propose to test whether ACT does in fact improve QoL in those with MD by randomising 154 patients to receive either standard medical care plus a guided self-help ACT programme, or standard medical care only.INTERVENTIONALInclusion Criteria: 1. Diagnosed with one of four specific muscle diseases on the basis of diagnostic criteria: 1. Limb girdle muscular dystrophy; symptomatic limb girdle muscular dystrophy genetically or pathologically proven 2. Dystrophinopathies resulting in a Becker' muscular dystrophy phenotype (excluding Duchenne muscular dystrophy) with pathology or genetic diagnosis 3. Facioscapulohumeral muscular dystrophy diagnosed clinically with specific genetic abnormality in the subject or their family 4. Inclusion body myositis clinic-pathologically defined, clinically defined or probable IBM based on ENMC research diagnostic criteria 2013 (submitted) 2. duration of muscle disease greater than six months 3. over the age of 18 years 4. access to the internet and a computer on which they can receive the intervention materials 5. HADS scores \> 8 for depression or \>8 for anxiety Exclusion Criteria: 1. Major active co-morbidities unrelated to muscle disease such as arthritis, respiratory disease, cardiovascular disease 2. Unstable complications of muscle disease including: 1. neuromuscular respiratory weakness 2. cardiomyopathy 3. Cognitive impairment that prevents comprehension of the questionnaires; assessed using the Montreal Cognitive Assessment 4. Unable to read English questionnaires 5. Major diagnosed active mental health co-morbidities e.g. psychosis, major depression, obsessive compulsive disorder, active suicide risk 6. Current or recent participation in other treatment intervention studies (\< 4 weeks after completion) 7. Currently receiving psychological support or psychotherapyALL2024-10-18T00:00:002016-06-202016-06-212019-08-202016-06-222019-08-222016-072018-042019-01trueIn adults, muscle diseases are usually chronic long-term conditions that do not have a definitive cure. Supportive care has been shown to reduce complications from muscle disease and improved survival in some cases. However, there has been limited research to evaluate interventions that may improve quality of life (QoL) with this patient group. The QoL of those with MD is not just affected by the severity of their MD but also a variety of psychological variables. Based upon the knowledge of these psychological variables the investigators feel that a particular type of psychological intervention known as "acceptance and commitment therapy" (ACT) could potentially improve QoL in those with MD. The investigators therefore propose to test whether ACT does in fact improve QoL in those with MD by randomising 154 patients to receive either standard medical care plus a guided self-help ACT programme, or standard medical care only.Muscle DiseasesNA155Individualised Neuromuscular Quality of Life Questionnaire (INQoL) - Life areasMeasures impact of MD on life areas: activities, independence, social functioning, emotional functioning and body image.9 weeks post randomisationIndividualised Neuromuscular Quality of Life Questionnaire (INQoL) - Symptom impact domainsMeasures the impact of key muscle disease symptoms: weakness, fatigue and pain.9 weeks post randomisationWork and Social Adjustment Scale (WSAS)Assesses how much symptoms interfere with participation in life i.e. work, home management, social, private and relationships.9 weeks post randomisationHospital Anxiety and Depression Scale (HADS)Measures mood.9 weeks post randomisationStanford Health Assessment Questionnaire Disability Index (HAQ-DI)Measures functional impairment.9 weeks post randomisationAcceptance and Action Questionnaire (AAQ-II)Measures psychological flexibility.9 weeks post randomisationMindfulness Attention Awareness Scale (MAAS)Measures dispositional open awareness of and attention to the present moment.9 weeks post randomisationCommitted Action Scale (CAS)Measures commitment towards goals.9 weeks post randomisationIBM Functional Rating ScaleAssesses function in people with Inclusion Body Myositis.9 weeks post randomisationPatient Global Impression of Change scale (PGIC)Assesses patient's own impression of change during the course of the study.9 weeks post randomisationPatient rating of treatment satisfactionMeasures patient's satisfaction with the treatment they have received.9 weeks post randomisationFalse18FalseFalseFalseFalse NCT01826487PTC124-GD-020-DMDPTC TherapeuticsINDUSTRYPhase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)2020-07COMPLETEDDystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.INTERVENTIONALInclusion Criteria: * Ability to provide written informed consent (parental/guardian consent if applicable)/assent per local requirements. * Phenotypic evidence of dystrophinopathy based on the onset of characteristic clinical symptoms or signs (for example; proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age, an elevated serum creatinine kinase level, and ongoing difficulty with walking. * Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA) or an equivalent organization. * Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene. * Use of systemic corticosteroids (prednisone, prednisolone, or deflazacort) for a minimum of 6 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen (not related to body weight change) for a minimum of 3 months immediately prior to start of study treatment and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study. * Valid Screening 6-minute walk distance (6MWD) greater than or equal to (≥) 150 meters. Valid Screening 6MWD must have been less than or equal to (≤) 80% of predicted for age and height. * Results of the 2 Baseline 6MWD results must be determined as valid and results of the Day 2 Baseline 6MWD must be within 20% of the Day 1 Baseline 6MWD. * Baseline 6MWD (mean of valid Day 1 and Day 2 values) must be no more than a 20% change from the valid Screening 6MWD. * Confirmed screening laboratory values within the central laboratory ranges (hepatic, renal, and serum electrolyte parameters). * Willingness to abstain from sexual intercourse or employ an approved method of contraception during the period of study drug administration and 6-week follow-up period. * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Exclusion Criteria: * Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment. * Initiation of systemic corticosteroids therapy within 6 months prior to start of study treatment. * Change in systemic corticosteroid therapy (for example; change in type of drug, dose modification not related to body weight change, schedule modification, interruption, or reinitiation) within 3 months prior to start of study treatment. * Any change (initiation, change in type of drug, dose modification, schedule modification,interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure (CHF) within 3 months prior to start of study treatment. * Ongoing use of coumarin-based anticoagulants (for example; warfarin), phenytoin, tolbutamide, or paclitaxel. * Prior therapy with ataluren. * Known hypersensitivity to any of the ingredients or excipients of the study drug. * Exposure to another investigational drug within 3 months prior to start of study treatment. * History of major surgical procedure within 6 weeks prior to start of study treatment. * Ongoing immunosuppressive therapy (other than corticosteroids). * Ongoing participation in any clinical trial (except for studies specifically approved by PTC Therapeutics). * Expectation of major surgical procedure (for example; scoliosis surgery) during the 12-month treatment period of the study. * Requirement for daytime ventilator assistance. * Uncontrolled clinical symptoms and signs of CHF (American College of Cardiology/American Heart Association Stage C or Stage D). * Prior or ongoing medical condition (for example; concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings (for example; lower limb injury that may affect 6MWT performance), electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002013-03-262013-04-032020-07-172013-04-082020-08-042013-03-262015-08-202015-08-20trueDystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.Muscular Dystrophy, Duchenne;Muscular Dystrophies;Muscular Disorders, Atrophic;Muscular Diseases;Musculoskeletal Diseases;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, X-Linked;Genetic Diseases, InbornPHASE3230Change From Baseline in 6MWD at Week 48The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline and Week 48 6MWD values are each the average of two valid 6MWD values, or a single available value if one was missing.Baseline, Week 48Time to 10 Percent (%) Persistent Worsening in 6MWDThe 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Time to 10% persistent worsening in 6MWD was defined as the last time that 6MWD was not 10% worse compared with baseline. Time to 10% persistent worsening in 6MWD \<300 meters, \>=300 to 400 meters, and \>=400 meters was evaluated. For participants who did not have 10% 6MWD worsening or who were removed from study, time to 10% 6MWD worsening was censored at the time of the last 6MWD test. Participants who became non-ambulatory were considered to have 10% worsening.Baseline to Week 48Change From Baseline in Time to Walk/Run 10 Meters at Week 48During the test for walking/running 10 meters, the method of walk/run used by the participant was categorized as follows: 1. Unable to walk independently; 2. Unable to walk independently but can walk with support from a person or with assistive device (full leg calipers \[knee-ankle-foot orthoses \] or walker); 3. Highly adapted gait, wide-based lordotic gait, cannot increase walking speed; 4. Moderately adapted gait, can pick up speed but cannot run; 5. Able to pick up speed but runs with a double stance phase (that is, cannot achieve both feet off the ground); 6. Runs and gets both feet off the ground (with no double stance phase). If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used. A cumulative change from baseline data has been reported.Baseline, Week 48Change From Baseline in Time to Climb 4 Stairs at Week 48During the test for stair-climbing, the method of climbing used by the participant was categorized as follows: 1. Unable to up climb 4 standard stairs; 2. Climbs 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), using both arms on one or both handrails; 3. Climbs 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), using one arm on one handrail; 4. Climbs 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), not needing handrail; 5. Climbs 4 standard stairs alternating feet, needs handrail for support; 6. Climbs 4 standard stairs alternating feet, not needing handrail support. A cumulative change from baseline data has been reported.Baseline, Week 48Change From Baseline in Time to Descend 4 Stairs at Week 48During the test for stair-descending, the method of descending used by the participant was categorized as follows: 1. Unable to descend 4 standard stairs; 2. Descends 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), using both arms on one or both handrails; 3. Descends 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), using one arm on one handrail; 4. Descends 4 standard stairs "marking time" (climbs one foot at a time, with both feet on a step before moving to next step), not needing handrail; 5. Descends 4 standard stairs alternating feet, needs handrail for support; 6. Descends 4 standard stairs alternating feet, not needing handrail support. A cumulative change from baseline data has been reported.Baseline, Week 48Percentage of Participants With Treatment-Emergent Adverse Events (AEs)An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Serious adverse event (SAE) was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. AEs included both SAEs and non-serious AEs. Treatment-emergent adverse event (TEAE) was defined as an adverse event that occurred or worsened in the period extending from first dose of study drug to 6 weeks after the last dose of study drug. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.Baseline up to Week 54False716TrueFalseFalseFalse NCT04012671MRCTA,ECFAH of FMU [2019]193First Affiliated Hospital of Fujian Medical UniversityOTHERA Registered Cohort Study on Duchenne Muscular Dystrophy2021-02RECRUITINGDystrophinopathy is a term of X-linked recessive genetic disease, including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and the X-linked dilated cardiomyopathy. The aim of this study is to determine the clinical spectrum and natural progression of dystrophinopathy in a prospective multicenter natural history study, to assess the clinical, genetic of patients with dystrophinopathy to optimize clinical management.OBSERVATIONALInclusion Criteria: * Beyond 2 years old * Diagnosis with Duchenne Muscular Dystrophy, and female carriers, genotypically confirmed * Diagnosis should be supported by muscle biopsy, if no genetic confirmation. Exclusion Criteria: * Presence of other clinically significant illnessALL2024-10-18T00:00:002019-07-072019-07-072021-03-182019-07-092021-03-222019-07-012039-12-312049-12-31trueFalseFalseDystrophinopathy is a term of X-linked recessive genetic disease, including Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and the X-linked dilated cardiomyopathy. The aim of this study is to determine the clinical spectrum and natural progression of dystrophinopathy in a prospective multicenter natural history study, to assess the clinical, genetic of patients with dystrophinopathy to optimize clinical management.Duchenne Muscular Dystrophy2000Age at deaththe time when patient die20 yearsFalse2FalseFalseFalseFalse NCT01070511MDA 158944Cedars-Sinai Medical CenterOTHERTadalafil in Becker Muscular Dystrophy2013-08COMPLETEDSummary for Patients: This study, funded by the Muscular Dystrophy Association, is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil (also known as Cialis) in mice with an animal version of Duchenne and Becker muscular dystrophies. Only two doses of tadalafil improved muscle blood flow, allowing the dystrophic mice to perform more exercise with less muscle injury. This new short-term clinical trial will move the testing from animals to human patients with Becker muscular dystrophy and examine the effects of acute tadalafil dosing on muscle blood flow during a bout of exercise. Patients will take two doses of tadalafil prior to exercising. Then doctors will measure whether muscles receive increased blood flow and therefore are better protected during exercise. Scientific Hypothesis: In patients with Becker muscular dystrophy (particularly those with dystrophin gene mutations between exons 41-46), loss of sarcolemmal nitric oxide synthase engenders functional muscle ischemia and thus muscle edema after an acute bout of exercise. The investigators further hypothesize that PDE5A inhibition, which boosts nitric oxide-cGMP signaling, constitutes an effective new countermeasure for these patients.INTERVENTIONALBecker Muscular Dystrophy Patients * Men 18-55 years of age with a pre-existing diagnosis of Becker Muscular Dystrophy by a clinical neurologist (based on clinical criteria plus previous muscle biopsy analysis and/or DNA analysis). Healthy Controls * Men 18-55 years of age with no known medical conditions Criteria for exclusion of subjects (both patients and controls) * Any evidence of cardiopulmonary disease by history or by physical examination * History of hypertension or blood pressure averaging ≥140/90 mmHg * Diabetes mellitus or other systemic illness * Heart failure by clinical exam, elevated BNP, or heart failure medication * Serum creatinine ≥ 1.5 mg/dL * Any history of substance abuse (including alcohol) * Any history of psychiatric illness * Contraindications to tadalafil (use of nitrates, alpha-blockers, other PDE5A inhibitors, or potent inhibitors of CYP3A4 such as ketoconazole or ritonavir) * Contraindications to MRI (claustrophobia, metal implants, or seizure disorder)MALE2024-10-18T00:00:002010-02-172010-02-172013-08-192010-02-182013-08-202010-012012-122012-12trueSummary for Patients: This study, funded by the Muscular Dystrophy Association, is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil (also known as Cialis) in mice with an animal version of Duchenne and Becker muscular dystrophies. Only two doses of tadalafil improved muscle blood flow, allowing the dystrophic mice to perform more exercise with less muscle injury. This new short-term clinical trial will move the testing from animals to human patients with Becker muscular dystrophy and examine the effects of acute tadalafil dosing on muscle blood flow during a bout of exercise. Patients will take two doses of tadalafil prior to exercising. Then doctors will measure whether muscles receive increased blood flow and therefore are better protected during exercise. Scientific Hypothesis: In patients with Becker muscular dystrophy (particularly those with dystrophin gene mutations between exons 41-46), loss of sarcolemmal nitric oxide synthase engenders functional muscle ischemia and thus muscle edema after an acute bout of exercise. The investigators further hypothesize that PDE5A inhibition, which boosts nitric oxide-cGMP signaling, constitutes an effective new countermeasure for these patients.Becker Muscular DystrophyPHASE448Reflex decrease in muscle tissue oxygenation (i.e., adrenergic vasoconstriction) during rhythmic handgrip exercise measured by Near Infrared Spectroscopy (NIR).measured at a minimum of 2 week intervals for a minimum of 6 weeks total (for subjects with BMD)Change in forearm muscle water content by magnetic resonance imaging (MRI).measured at a minimum of 2 week intervals for a minimum of 6 weeks total (for subjects with BMD)True1855FalseFalseFalseFalse NCT04179409SRPT-Dup-US-001Nationwide Children's HospitalOTHERA 48-Week, Open Label, Study to Evaluate the Efficacy and Safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 in Subjects With DuchenneMuscular Dystrophy Carrying Eligible DMD Duplications.2023-10COMPLETEDThis is an 48-week open-label study to determine the efficacy and safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 for the treatment of boys with duchenne muscular dystrophy who have a single exon duplication of either exon 45, 51 or 53, respectively. There will be weekly infusions and two muscle biopsies at baseline and at month 12.INTERVENTIONALInclusion Criteria: * Is a male with DMD and has an out-of-frame duplication of either exon 45, 51, or 53, with a normal copy number of all other DMD exons. * Is above age 6 months of age. * Has sufficient muscle mass in a pair of bilateral muscles that will allow for pre- and post-treatment muscle biopsies per PI discretion. * If the subject is ambulant and 4 years old or greater and has been on a stable dose or dose equivalent of oral corticosteroids for at least 12 weeks prior to Week 1 the dose is expected to remain constant (except for modifications to accommodate changes in weight) throughout the study. Exclusion Criteria: * Any additional missing exon for DMD that cannot be treated with study drugs. Other inclusion/exclusion criteria applyMALE2024-10-18T00:00:002019-08-122019-11-252023-10-202019-11-272023-10-262020-02-182021-09-012023-09-01trueTrueFalseThis is an 48-week open-label study to determine the efficacy and safety of AMONDYS 45, EXONDYS 51, VYONDYS 53 for the treatment of boys with duchenne muscular dystrophy who have a single exon duplication of either exon 45, 51 or 53, respectively. There will be weekly infusions and two muscle biopsies at baseline and at month 12.Duchenne Muscular DystrophyPHASE23Change in Dystrophin Expression From Baseline Following Treatment With Either AMONDYS 45 (Previously Casimersen), EXONDYS 51 (Previously Eteplirsen ), or VYONDYS 53 (Previously Golodirsen)This will be assessed by the comparison of quantification of protein in muscle biopsy tissue by western blot from baseline to 1 year post-initiation of treatment.Baseline, 1 yearMonitoring for the Development of Unacceptable Toxicity.This will be measured by capturing and reviewing Adverse Events as defined by CTCAE v4.0.1 yearChange in Dystrophin Expression From Baseline Following Treatment With Either AMONDYS 45 (Previously Casimersen), EXONDYS 51 (Previously Eteplirsen ), or VYONDYS 53 (Previously Golodirsen).This will be assessed by the comparison of immunofluorescent staining in muscle biopsy tissue from baseline to 1 year post-initiation of treatment.1 yearFalse6TrueFalseFalseFalse NCT00018109NCRR-M01RR00036-5083National Center for Research Resources (NCRR)NIHA Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD)2003-12COMPLETEDTo establish a collaborative group of clinical trial centers, with standardized equipment and protocols, able to conduct both drug and gene therapy trials in DMD. To evaluate the therapeutic effect of glutamine and creatine monohydrate on muscle strength in children with DMD. To validate the use of QMT (quantitative muscle strength testing) and gait analysis in children with DMD as reliable tools to quantify muscle strength, monitor disease progression and assess therapeutic response.INTERVENTIONALAmbulant children age 5-10 years with an established diagnosis of Duchenne Muscular DystrophyMALE2024-10-18T00:00:002001-07-032001-07-042005-06-232001-07-052005-06-24To establish a collaborative group of clinical trial centers, with standardized equipment and protocols, able to conduct both drug and gene therapy trials in DMD. To evaluate the therapeutic effect of glutamine and creatine monohydrate on muscle strength in children with DMD. To validate the use of QMT (quantitative muscle strength testing) and gait analysis in children with DMD as reliable tools to quantify muscle strength, monitor disease progression and assess therapeutic response.Muscular Dystrophy, DuchennePHASE3FalseFalseFalseFalse NCT02246478Taiho10053030Taiho Pharmaceutical Co., Ltd.INDUSTRYA Study of TAS-205 for Duchenne Muscular Dystrophy2021-05COMPLETEDThe objective of this study is to evaluate the safety and pharmacokinetic of TAS-205 in patients with Duchenne Muscular Dystrophy.INTERVENTIONALInclusion Criteria: * Able to give an informed consent. If applicable, able to give an informed assent. * Male and \>= 5 years and \< 16 years of age. * Bodyweight of \>= 15.0 kg and \< 75.0 kg. * Phenotypic evidence of DMD. * Able to take tablets. * If taking oral glucocorticosteroids no significant change in total daily dosage or dosing regimen after enrollment. * Confirmed the urinary PD marker over its criteria. * Able to follow the study protocol. Exclusion Criteria: * Current diagnosis or history of any drug allergy. * A forced vital capacity (FVC) \< 50% of predicted value. * A left ventricular ejection fraction (EF) \< 50% or fractional shortening (FS) \< 25% based on echocardiogram (ECHO). * Ongoing immunosuppressive therapy (other than corticosteroids). * With severe disease such as hepatic disease, kidney disease and others. * With any systemic allergic disease or any chronic inflammatory disease. * Treated with any other investigational agents within 90 days. * Positive reaction in hepatitis B surface antigen (HbsAg), hepatitis C antibody test (HCV), or human immunodeficiency virus (HIV) test.MALE2024-10-18T00:00:002014-09-092014-09-182021-05-112014-09-222021-06-042014-092015-062015-09falseThe objective of this study is to evaluate the safety and pharmacokinetic of TAS-205 in patients with Duchenne Muscular Dystrophy.Duchenne Muscular DystrophyPHASE123Incidence of Adverse EventsSource Vocabulary Name for Table Default: CTCAE (4.03)From the first administration day to the end of the observation period (ie. single-dose phase: 8 days, multiple-doses phase: 14 days)Peak Plasma Concentration (Cmax) of TAS-205Due to inspection missing, some data were not analyzed.Single-dose phase: immediately before dosing, 0, 0.5, 1, 2, 4, 8, 24, 48 hours post-dose, Multiple-dose phase: Days 1 and 7, immediately before morning dose, 0.5, 1, 2, 4, and 8 hours post-dose and Day 4, immediately before morning dose.Area Under the Plasma Concentration Versus Time Curve (AUC) of TAS-205Due to inspection missing, some data were not analyzed.Administration period (ie. single-dose phase: from single administration day to 48 hours after the administration, multiple-dose phase: from the first administration day to 8 hours after the last administration)The Urinary Excretion of PD MarkerRatio of prostaglandin E2 metabolite / creatinine Due to inspection missing, some data were not analyzed.Single-dose: Day -1 before administration, 0-24 hr post-dose, and 24-48 hr post-dose, Multiple-doses: Day -1 before administration, 0 hr after administration on Day 1 and 4 to the following day (Day 2 and 5), and 0-24 hr after administration on Day 7.False515FalseFalseFalseFalse NCT01484678IRB201700056-NUniversity of FloridaOTHERMagnetic Resonance Imaging and Biomarkers for Muscular Dystrophy2024-07RECRUITINGThe purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD). The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements. Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.OBSERVATIONALInclusion Criteria for boys with DMD: 1. Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with DMD based on: * clinical features with onset of symptoms before age five * elevated serum creatine kinase level or * absence of dystrophin expression, as determined by immunostain or western blot (\<2%) and/or DNA confirmation of a dystrophin mutation \*Subjects will not be excluded based on corticosteroid treatment or other clinical trials Inclusion Criteria for adults with Becker MD: 1. Ambulatory males (ages 18-62) without disease or injury to the lower extremities 2. Specific recruitment of a subset of individuals with deletion mutations in the dystrophin gene involving either exon 51 or exon 45. Inclusion Criteria for age matched controls for Becker MD subjects: 1. Ambulatory males (ages 18-62) without disease or injury to the lower and/or upper extremities will be eligible to participate in this study Exclusion Criteria: 1. Males with a contraindication to an MR examination 2. Males with unstable medical problems 3. Males who are not able to cooperate during testing 4. Males with a secondary condition that may impact muscle metabolism, muscle function or functional ability (i.e. cerebral palsy, endocrine disorders, mitochondrial disease) 5. Daytime ventilation 6. Implantable Cardioverter Defibrillator- (ICD) or pace maker 7. Healthy boys/men who participate in competitive sports specific training in excess of 8 hours per weekMALE2024-10-18T00:00:002011-10-102011-11-302024-07-232011-12-022024-07-242020-09-012025-08-312025-08-31falseFalseFalseThe purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD). The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements. Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy550Change from baseline in intramuscular lipid up to 3-10 yearsIn BMD and DMD, the from baseline in intramuscular lipid of upper/ lower extremity and trunk/respiratory muscles, as well as composite measures. MR measures of intramuscular lipid will be measured in yearly intervals for a period up to 3-10 years.Change in baseline up to 3-10 yearsChange from baseline in muscle T2 up to 3 months in DMDIn a subgroup of subjects the effect of corticosteroids on muscle T2 will be measured at 3 and 6 months. Muscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using MR. This substudy requires its own Primary and Secondary Outcome measures.Change in baseline up to 3 monthsCorrelation between MR measures of intramuscular lipid, functional endpoints and histological markers.In both BMD and DMD, the correlation between MR measures and functional endpoints will be determined, as well as the ability of MR measures to predict future change and loss in function.Through study completion, an average of 1 yearChange from baseline in muscle T2 up to 5-10 yearsMuscle T2 will be measured in the lower extremity and/or upper extremity muscles using MR at yearly intervals up to 5-10 years. We will report the change for each year interval.Change in baseline up to 5-10 yearsChange from baseline in muscle contractile area up to 5-10 yearsMuscle contractile area will be measured in the lower extremity and/or upper extremity muscles using MR at yearly intervals up to 5 years. We will report the change for each year interval.change in baseline up to 5-10 yearsChange from baseline in muscle T2 at 6 monthsIn a subgroup of subjects the effect of corticosteroids on muscle T2 will be measured at 3 and 6 months. Muscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using MR. This substudy requires its own Primary and Secondary Outcome measures.Change in baseline up to 6 monthsTrue562FalseFalseFalseTrue NCT00104078DS5141-A-J101Daiichi SankyoINDUSTRYStudy of DS-5141b in Patients With Duchenne Muscular Dystrophy2023-07COMPLETEDThis is a phase I/II study to evaluate the safety, tolerability, efficacy, and pharmacokinetic (PK) profile of DS-5141b in patients with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping and to determine the dosage for subsequent studies.INTERVENTIONALInclusion Criteria: * Confirmation of out-of-frame deletion(s) that could be corrected by dystrophin gene exon 45 skipping. * Intact muscles of adequate quality for biopsy to allow evaluation of the efficacy of the study drug. * Boys aged from 5 years to \<11 years. * Patients able to walk at least 325 meters in the 6-minutes walk test. * Glucocorticoid-naive patients, or patients who have used glucocorticoids for at least 6 months prior to enrollment in this study with no dose changes for at least 3 months prior to enrollment. Exclusion Criteria: * A genetic mutation that can not be expected the expression of dystrophin protein by dystrophin gene exon 45 skipping. * A concurrent illness other than DMD that can cause muscle weakness and/or impairment of motor function. * Current or history of severe disorder. * Left ventricular ejection fraction (LEVF) \<55%. * Corrected QT interval (QTc) \>0.45 sec.MALE2024-10-18T00:00:002016-01-262016-01-282023-07-282016-01-292024-03-072015-102020-10-202020-10-20FalseFalseThis is a phase I/II study to evaluate the safety, tolerability, efficacy, and pharmacokinetic (PK) profile of DS-5141b in patients with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping and to determine the dosage for subsequent studies.Duchenne Muscular DystrophyPHASE1PHASE28Number of Participants Reporting at Least One Treatment-emergent Adverse Event (TEAE) In Participants With Duchenne Muscular DystrophyA treatment-emergent adverse event (TEAE) is defined as an adverse event that emerges during treatment having been absent prior to treatment or reemerges during treatment or worsens in severity during treatment.48 Weeks of Part 2-Extension-2Pharmacokinetic Parameter Maximum Concentration (Cmax) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular DystrophyPharmacokinetic parameters were assessed using non-compartmental methods.Week 48 of Part 2-Extension-2Pharmacokinetic Parameter Area Under the Curve (AUC) Tau of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular DystrophyPharmacokinetic parameters were assessed using non-compartmental methods.Week 48 of Part 2-Extension-2Pharmacokinetic Parameter Time to Maximum Concentration (Tmax) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular DystrophyPharmacokinetic parameters were assessed using non-compartmental methods.Week 48 of Part 2-Extension-2Pharmacokinetic Parameter Half-life (T1/2) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne DystrophyPharmacokinetic parameters were assessed using non-compartmental methods.Week 48 of Part 2-Extension-2Mean Dystrophin Protein Expression in Muscle TissueWeek 48 of Part 2-Extension-2Number of Participants With Exon 45-skipped Dystrophin mRNA Expression in Muscle Tissue PosttreatmentWeek 48 of Part 2-Extension-2False510FalseFalseFalseFalse NCT01099761A031-03Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USAINDUSTRYStudy of ACE-031 in Subjects With Duchenne Muscular Dystrophy2022-09TERMINATEDThe purpose of this study is to determine if ACE-031 is safe and well-tolerated in boys with Duchenne Muscular Dystrophy (DMD) and to select the optimal doses of ACE-031 in terms of safety and pharmacodynamic (PD) activity for designing future studies. \[Note: This study was terminated based on safety data\]INTERVENTIONALInclusion Criteria: * Diagnosis of DMD confirmed * Ambulant * Corticosteroid therapy for at least one year prior to study day 1 and on a stable dose and schedule for at least 6 months prior to study day 1 * Evidence of muscle weakness by clinical assessment Exclusion Criteria: * Any previous treatment with another investigational product within 6 months prior to study day 1 * Any clinically significant cardiac, endocrine, hematologic, hepatic, immunologic, metabolic, urologic, pulmonary, neurologic, dermatologic, psychiatric, renal, and/or other major disease that is not related to DMD * Inability to perform a whole body dual x-ray absorptiometry (DXA) scanMALE2024-10-18T00:00:002010-04-022010-04-062022-09-142010-04-082022-10-132010-042011-062011-06trueThe purpose of this study is to determine if ACE-031 is safe and well-tolerated in boys with Duchenne Muscular Dystrophy (DMD) and to select the optimal doses of ACE-031 in terms of safety and pharmacodynamic (PD) activity for designing future studies. \[Note: This study was terminated based on safety data\]Duchenne Muscular DystrophyPHASE224Number of Subjects With Adverse Reactions.Number of subjects in each cohort with a treatment-emergent adverse event considered at least possibly related to study drugFrom treatment initiation to End-of-Study Visit, approximately 24 weeks laterNumber of Subjects With Clinical Laboratory Adverse Reactions.Number of subjects in each cohort with treatment-emergent adverse laboratory values judged to be at least possibly related to study drugBaseline to End-of-Study Visit, approximately 24 weeks later.Percent Change in Total Lean Body Mass by DXA Scan.Baseline to End-of-Study Visit, approximately 24 weeks later.Percent Change in Lumbar Spine Bone Mineral Density by DXA Scan.Baseline to End-of-Study Visit, approximately 24 weeks later.Percent Change in Muscle Strength Score by Hand-held Myometry.Manual Muscle Testing (MMT) is a procedure to measure the function and strength of individual muscles and muscle groups. Hand-held myometry, using a device known as a dynamometer, is one method used for MMT. The dynamometer is held against the patient's limb by the examiner and the patient is asked to resist the force applied by the examiner. The dynamometer measures the force applied by the patient, providing a quantitative and objective assessment of strength of the particular muscle or muscle group. The effectiveness of a therapeutic intervention on muscle strength, as measured by hand-held myometry, can be assessed by comparing post-treatment to pre-treatment (baseline) measurements.Baseline to End-of-Study Visit, approximately 24 weeks later.Change in Distance Traveled in 6 Minutes (Standardized 6-Minute-Walk Test).Change in distance traveled in 6 minutes (standardized 6-Minute-Walk Test); stratified by baseline age (\<10 years vs. \>=10 years)Baseline to End-of-Study Visit, approximately 24 weeks later.Change From Baseline in Time to Travel 10 Meters (Standardized 10-Meter-Walk/Run Test).Baseline to End-of-Study Visit, approximately 24 weeks later.Change in Pulmonary Function Tests (FVC)Forced Vital Capacity (FVC); 1 of 3 separate tests employed to assess pulmonary function in this studyBaseline to End-of-Study Visit, approximately 24 weeks later.Change in Pulmonary Function Test (MIP)Maximum Inspiratory Pressure (MIP); 2 of 3 separate tests employed to assess pulmonary function in this studyBaseline to End-of-Study Visit. approximately 24 weeksChange in Pulmonary Function Test (MEP)Maximum Expiratory Pressure (MEP); 3 of 3 separate tests employed to assess pulmonary function in this studyBaseline to End-of-Stuidy Visit, approximately 24 weeksFalse4FalseFalseFalseFalse NCT05849688P.T.REC/012/004396Beni-Suef UniversityOTHERBicycle Training on Ventilatory Functions in Duchenne Muscular Dystrophy2023-04NOT_YET_RECRUITINGThe purpose of the study is to investigate the effect of bicycle ergometry training on ventilatory functions in boys with Duchenne muscular dystrophy.INTERVENTIONALInclusion Criteria: 1. Boys ages will be ranged from 8 to 10 years old. 2. Confirmed diagnosis as Duchenne muscular dystrophy. 3. Lower limb functional levels ranged from Grades 1 through 3 acc. to Vignos scale for lower extremities. 4. Still ambulant and able to sit independently for at least 1 hour. Exclusion Criteria: 1. Ccongenital or acquired skeletal deformities or cardiopulmonary dysfunction. 2. Previous orthopaedic surgery in lower limbs. 3. Behavioral problems causing inability to cooperate during the study.MALE2024-10-18T00:00:002023-04-252023-05-052023-05-052023-05-092023-05-092023-05-152023-08-152023-08-15trueFalseFalseThe purpose of the study is to investigate the effect of bicycle ergometry training on ventilatory functions in boys with Duchenne muscular dystrophy.Duchenne Muscular DystrophyNA30Forced Vital Capacity (FVC)Spirometry will be used to measure forced vital capacity (FVC). It is the maximum volume of gas that can be expired when the child exhales as forcefully and as rapidly as possible after a maximal inspiration to assess the overall ability to move air in and out of the lungs. It is expressed in liter/minute.Up to 12 weeksForced Expiratory Volume in the First Second (FEV1)Spirometry will be used to measure forced expiratory volume in the first second (FEV1). It is the volume of gas expired over a given time interval (the first second) from the beginning of the FVC maneuver that reflects airflow in the large airways. It is expressed in liter/minute.Up to 12 weeksForced Expiratory Volume in the First Second/Forced Vital Capacity Ratio (FEV1/FVC%)Spirometry will be used to measure forced expiratory volume in the first second/forced vital capacity ratio (FEV1/FVC%). It is the relationship between forced expiratory volume in the first second (FEV1) and forced vital capacity (FVC) to determine if the respiratory pattern is obstructive, restrictive or normal pattern. It is expressed in (%).Up to 12 weeksAmbulatory status assessmentThe North Star Ambulatory Assessment (NSAA) will be used to to evaluate the ambulatory status of each boy. It is a 17-item scale (Standing-Walk-Stand up from chair-Stand on one leg Right \& Left-Climb box step Right \& Left-Descend box step Right \& Left-Lifts head from supine-Gets to sitting-Rise from floor-Stands on heels-Jump-Hop Right \& Left leg-Run 10-meters) that grades performance of various functional skills on a scale from 0 (unable), 1 (completes independently but with modifications), and 2 (completed without compensation).Up to 12 weeksFalse810FalseFalseFalseFalse NCT03521271GO 17/307Hacettepe UniversityOTHERInvestigation Of Factors Affecting Hand Functions in Nonambulatory Patients With Duchenne Muscular Dystrophy2018-05COMPLETEDThe aim of this study, determining the factors affecting the hand functions of children with Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and determining the effects on the overall upper extremity performance and quality of life of the determined factors.OBSERVATIONALInclusion Criteria: * Having a Duchenne Muscular Dystrophy diagnosis by a practicing physician, * Between the ages of 8-16 years, * Having lost ambulation ability, * Brooke Upper Extremity Functional Classification (1-5) * To have motivation and co-operation with physiotherapist for evaluations to be made Exclusion Criteria: * To maintain the capacity of independent ambulance, * Having cooperative disorder or serious mental disorder, * Any spinal and / or upper extremity injuries and / or surgery in the last 6 months, * Having any systemic disease other than DMD, * Not volunteering to participate in the studyMALE2024-10-18T00:00:002018-04-192018-05-092018-05-092018-05-112018-05-112017-04-052018-01-262018-01-26falseFalseFalseThe aim of this study, determining the factors affecting the hand functions of children with Duchenne Muscular Dystrophy who have lost their independent ambulatory ability and determining the effects on the overall upper extremity performance and quality of life of the determined factors.Duchenne Muscular Dystrophy23Brooke Upper Extremity Functional Classification (1-6)Children's functional levels were assessed with Brooke Upper Extremity Functional Classification (BUEFS) and children with a BUEFS score between 1-5 were included in the study. 1. Starting with arms at sides, can abduct arms in a full circle until they touch above head 2. Can raise arms above head only by flexing elbow or using accesory muscles 3. Cannot raise arms above head but can raise a glass of water to mouth (using both hands if necessary) 4. Can raise hands to mouth but cannot raise a glass of water to mouth 5. Cannot raise hand to mouth but can use hands to hold pen or pick up pennies from table 6. Cannot raise hands to mouth and has no useful function of hands2 minutesPassive joint range of motionPassive range of motions were assessed with goniometer and recorded limitations.10 minutesUpper extremity muscle strengthHand held dynamometer20 minutesThumb oppositionThumb opposition was assessed by Kapandji score (1-10). Score Location achieved 1. Radial side of the proximal phalanx of the 2nd phalanx 2. Radial side of the middle phalanx of the 2nd phalanx 3. Tip of the 2nd phalanx 4. Tip of the 3th phalanx 5. Tip of the 4th phalanx 6. Tip of the 5th phalanx 7. Distal interphalangeal joint crease of the 5th phalanx 8. Proximal interphalangeal joint crease of the 5th phalanx 9. Metacarpophalangeal joint crease of the 5th phalanx 10. Distal palmar crease2 minutesLateral, tripod, two-point pinch strengthPinchmeter3 minutesPerformance of the upper extremityPerformance of the Upper Limb (PUL) (0-74) is including three dimension: * Shoulder dimension (0-16) * Elbow dimension (0-34) * Distal dimension (0-24)15 minutesHand functionABILHAND-Kids (0-36)3 minutesActivity limitationsACTIVLIM (0-36)3 minutesGross grip strengthHand dynamometer2 minutesQuality of life assessment of children (0-100)PedsQL-Child report5 minutesQuality of life assessment of parents (0-100)PedsQL-Parent report5 minutesFalse816FalseFalseFalseTrue NCT02383511SMT C11003Summit TherapeuticsINDUSTRYModified Diet Trial: A Study of SMT C1100 in Paediatric Patients With DMD Who Follow a Balanced Diet2015-08COMPLETEDPlacebo-controlled, multi-centre, randomized, double-blind dose escalation study. The aim is to evaluate the pharmacokinetics (PK) and safety of SMT C1100 in paediatric patients with Duchenne Muscular Dystrophy (DMD) who follow a balanced diet.INTERVENTIONALInclusion Criteria: 1. Patients will be males of any ethnic origin with a genetic diagnosis of DMD. 2. Children between 5 and 13 years of age. 3. A parent/legal guardian must date and sign a written consent on behalf of the patient, according to International Conference on Harmonisation (ICH) and local regulations. This person must understand the contents of the consent, requirements of the study and have had an opportunity to review questions with a medically trained member of the site study team. 4. The patient is willing to give verbal or written age appropriate assent to participate. 5. For safety reasons, the patient's parent/legal guardian must have a good understanding of the English language, which the consent/assent forms are available, and understand the requirements for reporting of any AE to the Investigator. 6. The patient has 6 months or more stable systemic (Patients using an intermittent regimen of steroid are allowed to be enrolled) corticosteroid therapy prior to Screening. Dose modifications for body weight are permitted. 7. The patient or parent is willing to adhere to a balanced diet from 1 week prior to dosing until the end of the follow-up period. 8. Patients must agree to not have sexual intercourse during the study treatment phases and until the end of their participation in the study. Exclusion Criteria: 1. Enrolment or participation in any therapeutic clinical trial within the prior 3 months or 5 times the half-life (whichever is longer). Prior exposure to SMT C1100 is NOT an exclusion criterion. 2. Known hypersensitivity to the excipients of the study drug or a previous history of drug allergy. 3. The patient or parent is unwilling to adhere to a balanced diet from 1 week prior to dosing until the end of the follow-up period. 4. Is dairy or lactose intolerant, has an allergy to egg or nuts or any other dietary restrictions that might interfere with the conduct of the study. 5. Is unable to refrain from eating cruciferous vegetables and barbecued (chargrilled) meat for the duration of the study. 6. Use of prohibited medication within 5 half-lives prior to baseline assessments, unless otherwise stated in protocol. 7. Need for mechanical ventilation. 8. The patient experiences intermittent or continuous difficulties in swallowing. 9. Non ambulatory. 10. Any clinically significant acute illness within 4 weeks of the start of dose administration. 11. Any comorbidity that, in the opinion of the Investigator, increases the risk of participating in the study. 12. Symptomatic cardiomyopathy that in the opinion of the Investigator prohibits participation in this study. 13. Abnormality in the 12-lead ECG at the Screening visit that, in the opinion of the Investigator, increases the risk of participating in the study. 14. Any clinically significant medical condition, other than DMD that in the opinion of the Investigator may increase the risk of participating in the study or interfere with the interpretation of safety or efficacy evaluations (e.g., concomitant illness, severe reflux, psychiatric condition or behavioural disorder). 15. The Patient smokes or has exposure to daily passive smoking (including parent/legal guardian, siblings) so as to minimise environmental factors causing CYP 1A induction. 16. Excessive exercise (Investigator opinion).MALE2024-10-18T00:00:002015-02-042015-03-032015-08-252015-03-092015-08-262015-022015-082015-08truePlacebo-controlled, multi-centre, randomized, double-blind dose escalation study. The aim is to evaluate the pharmacokinetics (PK) and safety of SMT C1100 in paediatric patients with Duchenne Muscular Dystrophy (DMD) who follow a balanced diet.Muscular Dystrophy, DuchennePHASE112Pharmacokinetic parameters at different dose levels of SMT C1100To determine the plasma concentration of SMT C1100 parent and the major metabolites calculated at each time point for each subject.28 daysSafety and tolerability of SMT C1100To determine the safety and tolerability of single and multiple oral doses of SMT C1100 in patients with Duchenne Muscular Dystrophy (DMD) by assessing the participants adverse events.28 daysEvaluation of plasma CK levelsTo evaluate reductions in plasma creatine phosphokinase as a potential pharmacodynamic (PD) marker of SMT C1100 activity and muscle benefit.42 daysPharmacokinetic parameters at different dose levels of SMT C1100To determine the plasma concentration of SMT C1100 major metabolites calculated at each time point for each subject.28 DaysSafety and tolerability of SMT C1100To determine the safety and tolerability of single and multiple oral doses of SMT C1100 in patients with Duchenne Muscular Dystrophy (DMD) composite assessment of the participant's ECG results and laboratory tests.28 DaysPharmacokinetic parameters at different dose levels of SMT C1100To evaluate the diurnal variability in the steady state PK of SMT C1100 calculated at each time point for each subject.28 DaysFalse513FalseFalseFalseFalse NCT052493612022-05-136Samsung Medical CenterOTHERCorrelation Between Functional Capacity and Functional Capability in Duchenne Muscular Dystrophy2023-11RECRUITINGThis study investigates the correlation between assessments measuring functional capacity and functional capability in patients with Duchenne muscular dystrophy.OBSERVATIONALInclusion Criteria: 1. Children aged 5 to 18 years diagnosed with Duchenne muscular dystrophy through genetic testing 2. Children who understand the contents of this research and can properly conduct the research Exclusion Criteria: 1. Requiring daytime ventilator assistance or using invasive mechanical ventilation through tracheostomy (Non-invasive mechanical ventilation such as positive pressure ventilation at night is allowed) 2. History of peripheral nerve damage 3. History of major surgery within 12 weeks or if major surgery is expected during the test period 4. History of central nervous system disorders (eg, cerebral infarction, spinal cord injury) 5. Having difficulties in conducting this study due to cognitive decline.ALL2024-10-18T00:00:002022-02-102022-02-102023-11-232022-02-212023-11-292023-05-012025-04-012025-10-01FalseFalseThis study investigates the correlation between assessments measuring functional capacity and functional capability in patients with Duchenne muscular dystrophy.Duchenne Muscular Dystrophy48Correlation between physical activity(VM) and muscle quantitative indexWe analyze the correlation between the change in activity counts from baseline to 48-week and the change in muscle quantitative measures of upper and lower extremities from baseline to 48-week. The activity counts will be measured with ActiGraph wgt3x-bt worn on patient's dominant ankle and wrist. Accelerometers recorded acceleration in three orthogonal axes (x, y, z) at 30 Hz. Accelerometer recordings were uploaded to ActiLife software, integrated into 15-second epochs, and converted into an omnidirectional acceleration estimate, or vector magnitude (VM), calculated as the square root of the sum of the triaxial signals squared. The muscle quantitative will be measured with Microfet2. Muscle quantitative of upper extremity is the sum of the flexion and extension of both elbows and lower extremity is the sum of both knee flexion and extension and bilateral ankle dorsiflexion.Baseline up to Week 48Correlation between physical activity and Vignos scaleWe analyze the correlation between the change in activity counts from baseline to 48-week and the change in Vignos scale score from baseline to 48-week. On the Vignos scale, the grade ranges from 1 to 10; 1 means that the patient is able to walk and climb stairs without assistance, while 10 means that the patient is bed-boundBaseline up to Week 48Correlation between physical activity and Brooke scaleWe analyze the correlation between the change in activity counts from baseline to 48-week and the change in Brooke scale score from baseline to 48-week. The grades on the Brooke scale range from 1 to 6; 1 means that the patient is able to start with arms at the sides and can abduct the arms in a full circle until they touch above the head, while 6 means that they are unable to raise their hands to their mouth and have no useful function of the hands.Baseline up to Week 48Correlation between physical activity and 6MWT(6-minute walking test)We analyze the correlation between the change in activity counts from baseline to 48-week and the change in 6MWT results from baseline to 48-week. The 6MWT assesses distance walked over 6 minutes.Baseline up to Week 48Correlation between physical activity and NSAA(The North Star Ambulatory Assessment)We analyze the correlation between the change in activity counts from baseline to 48-week and the change in NSAA scores from baseline to 48-week. The NSAA is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD). It includes several items assessing abilities that are necessary to remain functionally ambulant, items assessing abilities, such as head raise and standing on heels that can be partly present in the early stages of the disease and a number of activities such as hopping. Each item can be scored on a 3 point scale using simple criteria: 2 -Normal achieves goal without any assistance; 1 -Modified method but achieves goal independent of physical assistance from another person; 0 -Unable to achieve independently. A total score can be achieved by summing the scores for all the individual items. The score can range from 0, if all the activities are failed, to 34, if all the activities are achieved.Baseline up to Week 48Correlation between physical activity and PUL(Performance of Upper Limb module for DMD)We analyze the correlation between the change in activity counts from baseline to 48-week and the change in PUL scores from baseline to 48-week. The PUL includes 22 items with an entry item to define the starting functional level (which corresponds to the Brooke scale) and 21 items subdivided into shoulder level (4 items), elbow level (9 items), and distal (i.e., wrist and fingers) level (8 items). For weaker patients, a low score on the entry item (i.e., less than 4 point of Item A) means that shoulder-level items do not need to be performed. Each dimension can be scored separately with a maximum score of 16 for the shoulder level, 34 for the elbow level, and 24 for the distal level. A total score can be achieved by adding the three-level scores, with a maximum global score of 74 points.Baseline up to Week 48Correlation between physical activity and PEDI-CAT(the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test)We analyze the correlation between the change in activity counts from baseline to 48-week and the change in mobility and self-care domain scores of PEDI-CAT from baseline to 48-week. Te PEDI-CAT incorporates a computer-adaptive platform with 276 items based on parental or caregiver reporting, and has four domains that cover daily activities, mobility, social/cognitive function, and responsibility. The PEDI-CAT yields a single score scaled from 0 to 100 for both Mobility and Self-care, with higher scores indicating greater function.Baseline up to Week 48Correlation between physical activity and EQ-5D(EuroQol-5D)We analyze the correlation between the change in activity counts from baseline to 48-week and the change in EQ-5D from baseline to 48-week. EuroQol EQ-5D is a preference-based HRQOL measurement tool for the five dimensions of 'exercise ability', 'self-management', 'daily activity', 'pain/discomfort', and 'anxiety/depression' in terms of 'no problem', 'somewhat Evaluated on three levels of 'having a problem' and 'having a serious problem', and the overall level was evaluated on a thermometer-shaped 20 cm vertical visual analogue scale with 0 points for the lowest health and 100 points for the highest health status.Baseline up to Week 48Correlation between physical activity and CHQ-PF50(Child Health Questionnaire - Parent form 50 )We analyze the correlation between the change in activity counts from baseline to 48-week and the change in EQ-5D from baseline to 48-week. The Child Health Questionnaire - Parent form 50 (CHQ-PF50) consists of 50 questions and 12 scales (Physical function, Role/social limitations-physical, Role/social limitations-emotional/ behavioral, Mental health, Self-esteem, Behavior, Bodily pain/discomfort, General health perceptions, Family activities, Parent impact on time, Parent emotional impact) and 2 global items (Global behavior and global general health), 2 summary scores (Physical and a psychosocial summary scores) is a tool to evaluate the quality of life of children. The raw score is converted into a converted score between 0-100, and the higher the score, the better the quality of life.Baseline up to Week 48Correlation between physical activity and quantitative muscle ultrasonographyWe analyze the correlation between change in activity from baseline to 48-week and the change in quantitative muscle ultrasonography from baseline to 48-week. We will measure the echogenicity of the muscles at 12 sites including deltoid, biceps brachii, wrist/finger flexors, rectus femoris, tibialis anterior, medial gastrocnemius, masseter, sternocleidomastoid, geniohyoid and diaphragm. The average gray scale of above muscles will be analyzed with ImageJ software (https://imagej.nih.gov).Baseline up to Week 48Correlation between physical activity and DMD upper limb PROMWe analyze the correlation between change in activity from baseline to 48-week and the change in DMD upper limb PROM from baseline to 48-week. DMD upper limb PROM is a patient reported outcome measure designed to assess upper extremity performance in daily life. It includes 32 items and each item will be scored on a 3 point scale: 2-can do task easily; 1-can do tast with difficulty; 0-impossible without help. A total score is the summation of the scores for all individual items. The score can range from 0 to 64.Baseline up to Week 48Correlation between physical activity and Pulmonary function testWe analyze the correlation between change in activity from baseline to 48-week and the change in pulmonary function test from baseline to 48-week. Maximal inspiratory pressure and maximal expiratory pressure will be measured with spirometry (Spirovis, Cosmed Srl, Rome, Italy).Baseline up to Week 48518FalseFalseFalseFalse NCT06274983SCH-2629Sheffield Children's NHS Foundation TrustOTHERDMD- Interactive Virtual Reality Study2023-06ACTIVE_NOT_RECRUITINGThis study will help determine if an Interactive Virtual Reality system can improve the physiotherapy of young patients with Duchenne muscular dystrophy (DMD).INTERVENTIONALInclusion Criteria: * Aged 5-10 years * Diagnosed with Duchenne muscular dystrophy (DMD) and receiving lower limb physiotherapy care * Ambulant patients * Able to speak/understand English Exclusion Criteria: * Physical or cognitive difficulties indicating the child would struggle to use the device or complete study activities. * Outside age range. * Non-ambulant patients. * Facial injuries precluding the use of HMD. * Issues relating to balance that could be affected by VR. * Severe visual impairment.ALL2024-10-18T00:00:002023-06-062024-02-162024-02-232024-02-232024-02-262023-04-202024-02-292024-02-29FalseFalseThis study will help determine if an Interactive Virtual Reality system can improve the physiotherapy of young patients with Duchenne muscular dystrophy (DMD).Duchenne Muscular DystrophyNA14Compliance: Ratings of frequency of the DMD-IVR device use for the participant's to complete recommended physiotherapy exercises.The physiotherapy team prescribe a defined frequency for use individualised for each child. Pre and Post Home diary: Families will be asked to complete a paper/electronic diary to capture compliance with current physio regime (including frequency of stretching and other activities for a 4 week 'pre intervention' period). The system will log the frequency of use of the DMD-VR platform during the 8 weeks (quantitative) which will be cross referenced with the patient completed activity diary.8 weeksCompliance: Ratings of duration of the DMD-IVR device use for the participant's to complete recommended physiotherapy exercises.The physiotherapy team prescribe a defined time for use individualised for each child. Pre and Post Home diary: Families will be asked to complete a paper/electronic diary to capture compliance with current physio regime (including duration of stretching and other activities for a 4 week 'pre intervention' period). The system will log the duration of use of the DMD-VR platform during the 8 weeks (quantitative) which will be cross referenced with the patient completed activity diary.8 weeksPost-trial qualitative interviews on perceptions, acceptability, usability and effectiveness of DMD-IVR device in the context of the family's overall burden of careA semi-structured interview will be conducted by the research nurse in person/phone with the patient and parent after the DMD-IVR rehabilitation at home trial (8 week). Open-ended questions provided qualitative data relating to acceptability, practicality, difficulty, pain and enjoyability, and participant attitudes towards the IVR system and its future deployment. Another semi-structured interview was conducted with the clinical staff by the researcher in person at the end of the trial to explore her attitudes towards the DMD-IVR device and future deployment (8 week). Both interviews were recorded, transcribed and anonymised.30 minutesDMD-IVR Effectiveness standard functional assessments: North Star Ambulatory Assessment (NSAA)NSAA is a 17-item rating scale used to measure functional motor abilities in ambulant children with DMD. The test must be completed without the use of any thoracic brace or leg orthoses. Therapist asks the patient to complete activities listed below. The activities are graded as follows: 2 - "Normal" - no obvious modification of activity 1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently This scale is ordinal with 34 as the maximum score indicating fully-independent function. Several studies have shown that NSAA is a quick, specific, reliable, valid, and clinically relevant method to measure the functional motor ability of ambulant children with DMD. NSAA is considered to be suitable to be used in research and in a multicentric setting provided that adequate training is given. \[https://www.physio-pedia.com/North_Star_Ambulatory_Assessment\] Evaluation at the baseline10 minutesDMD-IVR effectiveness measures with a Timed test 4 stair climbEvaluation at the baseline screening visit by the physiotherapist and at the end of the study (week 8).10 minutesDMD-IVR effectiveness measured joint range of movement using Goniometer (Standard BASELINE® 12-inch)Goniometer device (Standard BASELINE® 12-inch plastic goniometer, (Model 12- 1000-Fabrication Enter- prises, Inc: White Plains, New York) will be use by the clinical staff before and after the patient's rehabilitation to document the initial and subsequent range of motion, evaluate their progress and to determine the level of disability. Clinical staff used the goniometer. To assess any changes in range of movement using goniometer measured ankle range of movement, plus any other joint range of movement physiotherapist deemed clinically valuable. The clinical team examined the differences between a range of movements join (flexion, extension, abduction, and adduction) before and after the VR rehabilitation. The greater the range of movement the better. Evaluation at the baseline screening visit by the physiotherapist and at the end of the study (week 8).10 minutesFalse510FalseFalseFalseFalse NCT05661071GO22/310Hacettepe UniversityOTHERNeuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Its Effects on Motor Functions2022-12ACTIVE_NOT_RECRUITINGThis study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \& compare to typically developed peers.OBSERVATIONALInclusion Criteria: * Having been diagnosed with DMD by a pediatric neurologist, * Being between the ages of 7-16, * Not to have any diagnosed chronic disease, * Not having lost yet the ability to write and draw as required by neuropsychological assessments, * Cooperate with the physiotherapist and be able to comply with their instructions. Exclusion Criteria: * Inability to cooperate adequately with the physiotherapist who made the evaluations, * Have had any injury and/or surgery to the lower/upper extremities in the last 6 months, which may prevent the performance of motor function tests.MALE2024-10-18T00:00:002022-12-042022-12-182022-12-182022-12-222022-12-222022-05-112023-03-012023-03-01falseFalseFalseThis study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \& compare to typically developed peers.Duchenne Muscular Dystrophy74Modified Mini Mental TestThe Mini Mental Test developed for adults was adapted to the pediatric population by making minor modifications. Test; It evaluates verbal responses including attention, orientation, memory and language skills, ability to obey verbal and written orders, write spontaneous sentences, and copy a complex drawing. The highest score that can be obtained from this test is 35, the lowest score is 0.only baselineThe Controlled Oral Word Association TestThis test requires the individual to name as many words as possible that begin with a given letter, i.e. K, A and S. Sixty seconds are allotted for each letter. Individuals cannot use proper names or numbers and cannot use words with different tenses or endings once the root word has been givenonly baselineThe Central Nervous System Vital SignsCentral Nervous System Vital Signs is a reimbursable assessment procedure that utilizes computerized neuropsychological tests to evaluate the neurocognitive status of patients and covers a range of mental processes from simple motor performance, attention, memory, to executive functions.only baselineConners' Parent Rating Scale-48 (Parent Report)The Conners' Parent Rating Scale-48 contains 48 items wherein the frequency of each item is rated on a 4-point Likert scale ranging from not at all (0)-3 very much (3). The test has adequate psychometric properties and is widely used for clinical and research purposes with the attention deficit/hyperactivity disorder populationonly baselineChild Behavior Checklist 6-18 ages (Parent Report)The Child Behavior Checklist/6-18 assesses both child adaptive behaviors and problem behaviors. There are 112 items that assess problem behaviors and 20 items that assess adaptive behavior. Response format for problem behaviors is from 0 ("not true") to 2 ("very true"). The problem behavior items load onto two broad-band scales (Internalizing and Externalizing) and eight narrow-band scales (Rule Breaking, Aggressive Behavior, Withdrawn-Depressed, Somatic Complaints, Anxious Depressed, Social Problems, Thought Problems, and Attention Problems). The adaptive behavior items load onto three scales: Activities, Social Competence, and School Competence. A Total Competence and Total Behavior Problems score are also provided.only baselineStrengths and Difficulties Questionnaire (Self-Reported)The Strengths and Difficulties Questionnaire is a brief emotional and behavioural screening questionnaire for children and young people. The tool can capture the perspective of children. The 25 items in the test comprise 5 scales of 5 items each. The scales include: emotional symptoms subscale, conduct problems subscale, hyperactivity/inattention subscale, peer relationships problem subscale, prosocial behaviour subscale.only baselineBrooke Lower Extremity Functional ClassificationIt was developed using the classification method based on "Vignos et al." to determine the functional status of the lower extremity. It consists of 10 different levels, ranging from Level 1 (walks independently and climbs stairs) to Level 10 (bound to bed).only baselineMotor Function Measurement-32 ItemsThe Motor Function Measure is a scale designed for the assessment of motor function and progression of weakness in neuromuscular disorders. It is applicable to both ambulant and non-ambulant patients with a wide range of severity. The scale exists in two versions, one with 32 items for patients over 6 years of age (MFM-32), the other with 20 items for children aged from 2 to 6 years (MFM-20). Concerning the development of the scale, factor analysis identified three functional dimensions: D1 = standing position and transfers (13 items; 8 items in the short version), D2 = axial and proximal motor function (12 items; 8 in the short version), and D3 = distal motor function (7 items; 4 in the short version).only baselineFour Square Step TestIt is a valid and reliable test that has been used frequently in children in recent years to evaluate dynamic balance. Sticks, each 90 cm long, are placed on the floor to form 4 squares and the squares are numbered from 1 to 4. For the test to be completed successfully, the child must quickly move from one square to the next without touching the sticks. Performance is determined by measuring the test completion time in seconds. Shorter completion time means better dynamic balance.only baselineSix Minutes Walk TestThe 6-minutes walk test, which is valid and reliable for DMD patients, will evaluate the walking function and physical capacity of children at the submaximal level. The distance the child walks for 6 minutes in a 25 m corridor will be recorded in meters. A physiotherapist will walk with the children during the test and track the time with a stopwatch. The test is simple and considered an important outcome measure for children with DMD.only baseline10 meters Walk& Run TestA 10-meter distance was marked on an unobstructed, flat surface using tape. To limit the impact of acceleration and deceleration on gait speed, start and finish lines were placed 30 centimeter before and after the 10-meter distance. Participants were instructed to begin with toes on the start line and walk or run as fast as possible, without compromising safety, to the finish line.only baselineGower's(from a supine to a standing position)Children lied down on a mat with straight position and asked them to stand up as fast as possible. Time was started when he moved and stopped when he was upright position.only baselineRight& Left Leg Standing TestChildren had to maintain a one-legged stance for as long as they could with their eyes open, and allowing them to freely-move their arms. Children were verbally encouraged to maintain the one-legged standing position for as long as possible during test.only baselineAscent/Descent of 4 StepsThe children were asked to climb up the 4-step ladder with double-sided handrails as fast as possible. The time was started when his feet lifted from the ground and when both feet touched the ground, the time was stopped and recorded in seconds. After climbing the ladder, they were asked to descend as fast as possible, the time was started when the foot was lifted, and the time was stopped when both feet touched the ground and recorded in seconds.only baselineGenetic test reportThe effect of the mutation region of dystrophin protein isoforms causing DMD on the neuropsychological profile of children will be investigated by comparing them with typically developed boys and the effect of this on motor function will be examined.only baselineTrue716FalseFalseFalseFalse NCT05967793Benha UniversityEgyptian Chinese UniversityOTHEREffect of Kinesiology Taping on Head and Trunk Control in Children With Duchenne Muscular Dystrophy2023-07RECRUITINGMuscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Many people will eventually become unable to walk. Some types are also associated with problems in other organs. The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories or types. The signs and symptoms consistent with muscular dystrophy are: progressive muscular wasting, poor balance, scoliosis (curvature of the spine and the back), progressive inability to walk, waddling gait, Calf deformation, Limited range of movement, respiratory difficulty, cardiomyopathy and muscle spasms This study aimed to assess the efficacy of Kinesiology Taping on head and trunk control in patients with Duchenne muscular dystrophyINTERVENTIONALInclusion Criteria: 1. being at the age of 8-12 years 2. being able to cooperate with the instructions of physiotherapist to perform the assessments and procedures. Exclusion Criteria: 1. having severe contracture at lower extremities 2. having another neurological and/or musculoskeletal disease diagnosis in addition to DMD. c) having a history of any lower extremity injury or orthopedic/neurologic surgery within the past 6 months.ALL2024-10-18T00:00:002023-07-152023-07-222023-07-222023-08-012023-08-012023-072023-092023-11FalseFalseMuscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Many people will eventually become unable to walk. Some types are also associated with problems in other organs. The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories or types. The signs and symptoms consistent with muscular dystrophy are: progressive muscular wasting, poor balance, scoliosis (curvature of the spine and the back), progressive inability to walk, waddling gait, Calf deformation, Limited range of movement, respiratory difficulty, cardiomyopathy and muscle spasms This study aimed to assess the efficacy of Kinesiology Taping on head and trunk control in patients with Duchenne muscular dystrophyDuchenne Muscular DystrophyNA30H-reflex latency and amplitude for trunk extensorH- reflex will be measured by an electromyogram device, four channels electrodiagnostic system with built in amplifier will be used in prone position for levator scapulae muscles and iliocostalis lumborum musclesthrough study completion, an average of 3 monthsFalse812FalseFalseFalseFalse NCT064123282023109Lokman Hekim ÜniversitesiOTHER_GOVPsychoeducation Program for Parents of Children With DMD2024-05COMPLETEDHaving and caring for a child with disabilities brings emotional, social and economic difficulties for many families. Families may experience many physiological and psychological problems due to the stress and anxiety they experience. In addition, it is seen that families with children with disabilities give up their existing roles, reduce their participation in social activities, and reach stagnation in their social lives. Mothers are affected psychologically more than fathers and feel lonely. It is stated that mothers believe that they cannot afford everything in the face of the responsibilities they carry and accordingly, they experience emotional and psychological problems such as stress, anxiety, depression, absent-mindedness, forgetfulness and tantrums. Living with a child with a disability causes family members to experience different emotions as mentioned above; families may frequently experience fear, anxiety, guilt, anger and depression. It is reported that mothers of children with DMD experience depression, anxiety about the future and uncertainty more than mothers of healthy children. Families of children with DMD reported that they felt tired and fatigued during the process of caring for the child and had difficulties in participating in social activities and allocating time for themselves. Most of these families stated that they needed psychological and social support. Therefore, it is important to address the psychiatric aspects of families with children with DMD during the disease process. Parental health contributes positively to the health and adaptation of the family in general. Examining the psychiatric symptoms caused by the problems experienced by families related to DMD and how they cope with this stress will be useful in evaluating and addressing these families. In addition, the social support that families with children with disabilities receive from their immediate environment and institutions is also an important issue. It has been reported that social support from relatives, friends, neighbors, organizations and communities increases the psychological resilience levels of families, they feel that they are not alone in the face of problems, and their anxiety levels decrease. In the literature, it is generally mentioned that when the culture of pediatric care is supportive and family-oriented, the care of the patient will undergo a change when transitioning from pediatric care to the adult period. However, studies evaluating the problems experienced by families in the care of patients with DMD, psychiatric symptoms, ways of coping with stress and perceived social support are insufficient. It is important to evaluate the problems experienced by parents in the families of children with DMD in developing skills to cope with the disease process and disease-related problems, and then to provide training in these areas. Because if parents, who are in the role of caregivers, are equipped with knowledge and skills in this context, they will provide better care and be more useful to their children with DMD. In line with this information, the aim of this study was to evaluate the problems experienced by parents of children with DMD, psychiatric symptoms, coping skills with stress and the level of social support they perceive and to implement a psychosocial support-based psychoeducation program related to these areas.INTERVENTIONALInclusion Criteria: * Having a child diagnosed with DMD * Volunteering to participate in the study and reading and signing the informed consent form Exclusion Criteria: * Having previously or currently participated in any psychoeducation programALL2024-10-18T00:00:002024-05-072024-05-092024-05-092024-05-142024-05-142023-06-212023-07-292023-08-29falseFalseFalseHaving and caring for a child with disabilities brings emotional, social and economic difficulties for many families. Families may experience many physiological and psychological problems due to the stress and anxiety they experience. In addition, it is seen that families with children with disabilities give up their existing roles, reduce their participation in social activities, and reach stagnation in their social lives. Mothers are affected psychologically more than fathers and feel lonely. It is stated that mothers believe that they cannot afford everything in the face of the responsibilities they carry and accordingly, they experience emotional and psychological problems such as stress, anxiety, depression, absent-mindedness, forgetfulness and tantrums. Living with a child with a disability causes family members to experience different emotions as mentioned above; families may frequently experience fear, anxiety, guilt, anger and depression. It is reported that mothers of children with DMD experience depression, anxiety about the future and uncertainty more than mothers of healthy children. Families of children with DMD reported that they felt tired and fatigued during the process of caring for the child and had difficulties in participating in social activities and allocating time for themselves. Most of these families stated that they needed psychological and social support. Therefore, it is important to address the psychiatric aspects of families with children with DMD during the disease process. Parental health contributes positively to the health and adaptation of the family in general. Examining the psychiatric symptoms caused by the problems experienced by families related to DMD and how they cope with this stress will be useful in evaluating and addressing these families. In addition, the social support that families with children with disabilities receive from their immediate environment and institutions is also an important issue. It has been reported that social support from relatives, friends, neighbors, organizations and communities increases the psychological resilience levels of families, they feel that they are not alone in the face of problems, and their anxiety levels decrease. In the literature, it is generally mentioned that when the culture of pediatric care is supportive and family-oriented, the care of the patient will undergo a change when transitioning from pediatric care to the adult period. However, studies evaluating the problems experienced by families in the care of patients with DMD, psychiatric symptoms, ways of coping with stress and perceived social support are insufficient. It is important to evaluate the problems experienced by parents in the families of children with DMD in developing skills to cope with the disease process and disease-related problems, and then to provide training in these areas. Because if parents, who are in the role of caregivers, are equipped with knowledge and skills in this context, they will provide better care and be more useful to their children with DMD. In line with this information, the aim of this study was to evaluate the problems experienced by parents of children with DMD, psychiatric symptoms, coping skills with stress and the level of social support they perceive and to implement a psychosocial support-based psychoeducation program related to these areas.Psychoeducation;Parents;Psychological Wellness;Duchenne Muscular DystrophyNA26Demographic information formpre-interventionBrief Symptom InventoryIt consists of five sub-dimensions (anxiety, depression, negative self, somatization and hostility) and 53 items. A high score in each sub-dimension indicates an increased level of discomfort in the person.pre-intervention and immediately after the interventionCoping with stress scaleThe scale has five sub-dimensions: "self-confident approach", "optimistic approach", "helpless approach", "submissive approach" and "social support seeking approach". The scale consists of 30 items in total and is scored between 0-3. Each sub-dimension is scored separately. In the evaluation of the scale, an increase in the scores obtained from self-confident, optimistic and social support seeking approach means that effective stress coping methods are used, while an increase in the scores of helpless and submissive approach means that ineffective stress coping methods are used.pre-intervention and immediately after the interventionMultidimensional Scale of Perceived Social Support MSPSSThe scale consists of 12 items in total and has three sub-dimensions: "family support, friend support and special person support". The lowest score that can be obtained from the subscales is 4 and the highest score is 28. The lowest score that can be obtained as a total scale score is 12 and the highest score is 84. A high score obtained from the scale means that the perceived social support is also high.pre-intervention and immediately after the interventionFalse1865FalseFalseFalseFalse NCT05516745EPULMoDMD 001/2021Medical University of GdanskOTHERE-monitoring of PULMonary Function in Patients With Duchenne Muscular Dystrophy at Home"2022-08RECRUITINGDuchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease. The European Respiratory Society is currently focused on digital health, seeking to define the realistic innovations for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic. This study aimed to investigate whether it is possible to monitor pulmonary function at home by using an individual electronical spirometry system in children with Duchenne muscular dystrophy DMD. The second aim of the study is the implementation of respiratory telerehabilitation and the assessment of its impact on pulmonary function (FVC).INTERVENTIONALInclusion Criteria: * male, ≥7 years and \<18 years of age at the time of enrollment in the study; * ability to perform spirometry; * stated willingness to comply with all study procedures and availability for the duration of the study. Exclusion Criteria: * no consent to participate in the study; * patients under 7 years of age or above 18 years of age; * inability to perform spirometryMALE2024-10-18T00:00:002021-09-222022-08-232022-08-232022-08-262022-08-262021-03-202025-022025-03falseFalseFalseDuchenne muscular dystrophy (DMD) is the most common, progressive, irreversible muscular dystrophy. The pulmonary function is crucial for the duration of life in this disease. The European Respiratory Society is currently focused on digital health, seeking to define the realistic innovations for digital respiratory medicine to support professionals and patients during the COVID-19 pandemic. This study aimed to investigate whether it is possible to monitor pulmonary function at home by using an individual electronical spirometry system in children with Duchenne muscular dystrophy DMD. The second aim of the study is the implementation of respiratory telerehabilitation and the assessment of its impact on pulmonary function (FVC).Duchenne Muscular Dystrophy (DMD)NA200Change from Baseline of the mean Forced Vital Capacity in Liters measured by home and hospital spirometry in DMD participants with vs without respiratory telerehabilitationSome studies showed that respiratory function declines at a rate of 6-11% annually in patients with DMD. A major component of respiratory dysfunction seems to be a decline of inspiratory muscle weakness. Methods of improving the functioning of the muscles of the respiratory system are constantly sought. One of the key factors that can improve the function of respiratory muscles is proper rehabilitation. The proposition is implementation of telerehabilitation of respiratory muscle together with e-monitoring pulmonary function at home.12 monthsChange from Baseline of the mean Forced Vital Capacity in %predicted value measured by home and hospital spirometry in DMD participants with vs without respiratory telerehabilitationSome studies showed that respiratory function declines at a rate of 6-11% annually in patients with DMD. A major component of respiratory dysfunction seems to be a decline of inspiratory muscle weakness. Methods of improving the functioning of the muscles of the respiratory system are constantly sought. One of the key factors that can improve the function of respiratory muscles is proper rehabilitation. The proposition is implementation of telerehabilitation of respiratory muscle together with e-monitoring pulmonary function at home.12 monthsPossibility of home e-monitoring of pulmonary function in patients with Duchenne Muscular Dystrophy in the Covid-19 pandemic* number of the days with performed spirometry test per patient during the monitoring period * number and percent of correct spirometry parameters.4 weeksThe number of the participants who performed at least one correct spirometry examinationFeasibility of home e-monitoring of pulmonary function in patients with Duchenne Muscular Dystrophy in the Covid-19 pandemic measured by The number of the participants who performed at least one correct spirometry examination4 weeksthe difference in the value of spirometry results (FVC %pv, L) between home spirometry and spirometry in the hospitalFeasibility of home e-monitoring of pulmonary function in patients with Duchenne Muscular Dystrophy in the Covid-19 pandemic measured by The number of the participants who performed at least one correc the difference in the value of spirometry results (FVC %pv, L) between home spirometry and spirometry in the hospital4 weeksFalse717FalseFalseFalseFalse NCT00844597AVI-4658-28Sarepta Therapeutics, Inc.INDUSTRYDose-Ranging Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy (DMD) Patients2015-09COMPLETEDThe specific aim of this Phase I/II study is to assess the safety of intravenous administered Morpholino oligomer directed against exon 51 (AVI-4658 PMO).INTERVENTIONALInclusion Criteria: 1. Has provided written informed assent (as required by EC) and parents/guardians have provided written informed consent. 2. Has an out-of-frame deletion(s) that could be corrected by skipping exon 51 based on DNA sequencing data from the candidate. 3. Is male and between the ages of ≥ 5 years and ≤ 15 years. 4. Has a muscle biopsy analysis showing \< 5% revertant fibres present at baseline. 5. DNA sequencing of the candidate's dystrophin exon 51 confirms that no DNA polymorphisms are present that could compromise PMO duplex formation or there is confirmation of in vitro dystrophin production after AVI-4658 exposure to fibroblast or myoblast in vitro cultures. 6. Intact right and left bicep muscles or alternative arm muscle group. 7. Is able to walk independently at least 25 meters. 8. Has a forced vital capacity (FVC) ≥ 50% of predicted and does not require ventilatory support or supplemental oxygen. 9. Receives the standard of care for DMD as recommended by the DMD care recommendations from the North Star UK and TREAT-NMD. 10. The parent(s) or legal guardian and Subject have undergone counselling about the expectations of this protocol and agree to participate. 11. The parent(s) or legal guardian and Subject intend to comply with all study evaluations and return for all study activities. Exclusion Criteria: 1. A DNA polymorphism within exon 51 that may compromise PMO duplex formation. 2. Known antibodies to dystrophin. 3. Lacks intact right and left bicep muscles or alternative arm muscle group. 4. A calculated creatinine clearance less than 70% of predicted normal for age based on the Cockcroft and Gault Formula. 5. A left ventricular ejection fraction (EF) of \< 35% and/or fractional shortening of \<25% based on echocardiography (ECHO)during screening. 6. A history of respiratory insufficiency as defined by need for intermittent or continuous supplemental oxygen. 7. A severe cognitive dysfunction rendering the potential subject unable to understand and comply with the study protocol. 8. Any known immune deficiency or autoimmune disease. 9. A known bleeding disorder or has received chronic anticoagulant treatment within three months of study entry. 10. Receipt of pharmacologic treatment, apart from corticosteroids, that might affect muscle strength or function within 8 weeks of study entry (viz., growth hormone, anabolic steroids). 11. Surgery within 3 months of study entry or planned for anytime during the duration of the study. 12. Another clinically significant illness at time of study entry. 13. Subject or parent has active psychiatric disorder, has adverse psychosocial circumstances,recent significant emotional loss, and/or history of depressive or anxiety disorder that might interfere with protocol compliance. 14. Use of any experimental treatments, has participated in any DMD interventional clinical trial within 4 weeks of study entry or participated in the AVI-4658-33 intramuscular (i.m.) trial.MALE2024-10-18T00:00:002008-12-242009-02-122015-09-032009-02-162015-10-062009-012010-062010-12trueThe specific aim of this Phase I/II study is to assess the safety of intravenous administered Morpholino oligomer directed against exon 51 (AVI-4658 PMO).Duchenne Muscular DystrophyPHASE1PHASE219Safety and TolerabilityNumber of subjects with 1 or more Treatment Emergent Adverse Event that are possibly related to the investigational drugBaseline to 6 monthsTreatment Emergent Adverse EventsNumber of Patients with Treatment Emergent Adverse Eventsfrom Baseline to Follow up (27 weeks)Pharmacokinetics - Mean Peak Plasma Concentration of AVI-4658 After AdministrationStandard Pharmacokinetic parameters estimated using non-compartmental modeling of plasma concentration data.Samples were taken: 30 minutes pre dose; and at 5 (±1), 15 (±2), 30 (±5), 60 (±5), and 90 (±5) minutes; and 2, 4, 6, 8, 12, and 24 hours (all ± 15 minutes) post dose at Weeks 1, 6, and 12Efficacy of Eteplirsen Over 12 Weeks of DosingEfficacy was defined as an estimated change in the percentage of dystrophin positive fibers (assessed by IHC) at Week 14 from Baseline after 12 weekly doses of eterplirsen. This outcome measure represents the number of patients to show an increase in the percentage of dystrophin-positive fibers.Biopsies were taken at Baseline and Week 14False515FalseFalseFalseFalse NCT03508947WVE-DMDX51-001Wave Life Sciences Ltd.INDUSTRYSafety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy2019-04COMPLETEDThis is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.INTERVENTIONALInclusion Criteria: * Diagnosis of Duchenne muscular dystrophy (DMD) based on clinical phenotype with increased serum creatine kinase * Documented mutation in the Dystrophin gene associated with DMD that is amenable to exon 51 skipping * Ambulatory or non-ambulatory male patients aged ≥5 - ≤18 years * Stable pulmonary and cardiac function as measured by: 1. Reproducible percent predicted forced vital capacity (FVC) ≥50% 2. Left ventricular ejection fraction (LVEF) \>55% in patients \<10 years of age and \>45% in patients ≥10 years of age, as measured (and documented) by echocardiogram within one year prior to enrollment into the study. Exclusion Criteria: * Severe cardiomyopathy; cardiomyopathy that is managed by angiotensin-converting enzyme (ACE) inhibitors or beta blockers is acceptable provided the patient meets the LVEF inclusion criteria. * Need for mechanical or non-invasive ventilation OR anticipated need for mechanical or non-invasive ventilation within the next year, in the opinion of the Investigator. * Changes in nutritional or herbal supplements or concomitant medications within 1 month prior to Screening visit or plans to modify dose or regimen during the study. * Currently on anticoagulants or antithrombotics. * Received treatment with eteplirsen or ataluren within the past 14 weeks. * Received prior treatment with drisapersen. * Received any investigational drug within the past 3 months or 5 half-lives, whichever is longer.MALE2024-10-18T00:00:002018-04-162018-04-242019-04-052018-04-262019-04-082018-01-242019-03-062019-03-06trueTrueFalseThis is a Phase 1, double-blind, placebo-controlled, single ascending dose cohort study to evaluate the safety, tolerability, and plasma concentrations of WVE-210201 in ambulatory and non-ambulatory male pediatric patients with DMD amenable to exon 51 skipping intervention.Duchenne Muscular DystrophyPHASE136Safety: Number of patients with adverse events (AEs)Day 1 to Day 85 (end of study)Safety: Severity of AEsDay 1 to Day 85 (end of study)Safety: Number of patients with serious AEs (SAEs)Day 1 to Day 85 (end of study)Safety and Tolerability: Number of patients who withdraw due to AEsDay 1 to Day 85 (end of study)Pharmacokinetics (PK): Maximum observed concentration (Cmax)Day 1, Day 2, and Day 8PK: Time of occurrence of Cmax (tmax)Day 1, Day 2, and Day 8PK: Area under the plasma concentration-time curve (AUC 0-t)Day 1, Day 2, and Day 8False518FalseFalseTrueTrue NCT00312247SHC-DMD-79115Shriners Hospitals for ChildrenOTHERBiomechanical Analysis of Gait in Individuals With Duchenne Muscular Dystrophy2015-05COMPLETEDThe purpose of this research study is to understand the walking patterns, strength and function changes of boys with Duchenne muscular dystrophy on/off corticosteroids to determine the best timing and treatment options to maintain walking for as long as possible.OBSERVATIONALInclusion Criteria: * Confirmed diagnosis of DMD * Male. * Four years of age or older. * Ability to walk independently for five minutes to 10 minutes at self-selected speed. * Ability to cognitively understand directions for testing procedures. Exclusion Criteria: * Female * NonambulatoryMALE2024-10-18T00:00:002006-04-052006-04-052015-05-182006-04-072015-05-192006-042014-122015-03falseThe purpose of this research study is to understand the walking patterns, strength and function changes of boys with Duchenne muscular dystrophy on/off corticosteroids to determine the best timing and treatment options to maintain walking for as long as possible.Duchenne Muscular Dystrophy85Gait patterncomputerized assessment of walkingevery six months (2x/year)muscle strengthquantitative assessment of strength with a Biodexevery six months (2x/year)energy cost of walkingassessment of how much energy it takes to walk, assessed with a Cosmed K4b2every six months (2x/year)gross motor functional skillsassessment of gross motor skills, ie getting up off the floor, ascending/descending stairsevery six months (2x/year)Step activity Monitor-participationmeasurement of the number of steps taken in the community/home environment during weekdays and weekendsone week every six monthsFalse421FalseFalseFalseFalse NCT06100887EDG-5506-215Edgewise Therapeutics, Inc.INDUSTRYPhase 2 Study of EDG-5506 in Children and Adolescents with Duchenne Muscular Dystrophy Previously Treated with Gene Therapy (FOX)2024-09RECRUITINGThe FOX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics, and biomarkers in children and adolescents with Duchenne muscular dystrophy previously treated with gene therapy including a randomized, double-blind, placebo-controlled Part A, followed by an open-label part B.INTERVENTIONALKey Inclusion Criteria: * Aged 6 to 17 with a documented mutation on the DMD gene and phenotype consistent with DMD. * Prior receipt of an AAV-based gene therapy (≥ 2 years after study drug administration in an open-label study or ≥ 3 years after randomization in a randomized study). * Able to complete stand from supine in ≤ 8 seconds at the Screening visit and able to perform the 4-stair climb in \< 10 seconds at the Screening visit. * Body weight ≥ 15 kg at the Screening visit. * Treatment with a stable dose of corticosteroids for a minimum of 6 months prior to the Baseline visit. Key Exclusion Criteria: * Medical history or clinically significant physical exam/laboratory result that, in the opinion of the investigator, would render the participant unsuitable for the study. This includes venous access that would be too difficult to facilitate repeated blood sampling. * Screening visit cardiac echocardiography showing left ventricular ejection fraction (LVEF) \< 40%. * Receipt of an investigational drug (other than the AAV-based gene therapy per Inclusion criteria) within 30 days or 5 half-lives (whichever is longer) of the Screening visit in the present study. * Receipt of an exon-skipping therapy within 6 months prior to the Screening visit.MALE2024-10-18T00:00:002023-10-202023-10-202024-09-172023-10-252024-09-192024-03-222025-102025-10trueTrueFalseThe FOX study is a 2-part, multicenter, Phase 2 study of safety, pharmacokinetics, and biomarkers in children and adolescents with Duchenne muscular dystrophy previously treated with gene therapy including a randomized, double-blind, placebo-controlled Part A, followed by an open-label part B.Duchenne Muscular DystrophyPHASE248Number of adverse events during treatment with sevasemten or placeboAll participants12 monthsSeverity of adverse events during treatment with sevasemten or placeboAll participants12 monthsIncidence of abnormal clinical chemistry test resultsAll participants12 monthsIncidence of abnormal hematology test resultsAll participants12 monthsIncidence of abnormal coagulation test resultsAll participants12 monthsIncidence of abnormal urinalysis test resultsAll participants12 monthsPharmacokinetics as measured by steady state plasma concentrationAll participants12 monthsChange from Baseline in serum creatine kinaseAll participants12 weeksChange from Baseline in fast skeletal muscle troponin IAll participants12 weeksFalse617TrueFalseFalseFalse NCT019638972013/513Oslo University HospitalOTHERDuchenne Muscular Dystrophy < 18y in Norway: Genotype/Phenotype, Growth, Puberty, Bone Health and Quality of Life.2017-09COMPLETEDThe study will give a consent based epidemiological overview of Norwegian patients with Duchenne muscular dystrophy younger than 18 years of age. Genotype of the population will be described. Longitudinal development of growth, bone health, and , when applicable, puberty over a two year period will be studied. Questionnaires regarding quality of life will also be an important part of the study.OBSERVATIONALInclusion Criteria: * Diagnosis of Duchenne muscular dystrophy * Age under 18 years * Residing in Norway Exclusion Criteria: -MALE2024-10-18T00:00:002013-10-122013-10-152017-09-222013-10-162017-09-252013-082017-062017-06falseThe study will give a consent based epidemiological overview of Norwegian patients with Duchenne muscular dystrophy younger than 18 years of age. Genotype of the population will be described. Longitudinal development of growth, bone health, and , when applicable, puberty over a two year period will be studied. Questionnaires regarding quality of life will also be an important part of the study.Duchenne Muscular Dystrophy73GenotypeSpecific description of mutation1 day (At first visit)False18FalseFalseFalseFalse NCT01126697PITT0908Cooperative International Neuromuscular Research GroupNETWORKClinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies2018-06COMPLETEDThe study will include 120 participants aged 8 and up with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies that have no clinical cardiac symptoms. Participants will be randomized to one of four arms: Arm 1 CoQ10 alone, Arm 2 Lisinopril alone, Arm 3 CoQ10 and Lisinopril or Arm 4 No study medication. Randomization will be stratified by ambulatory status and corticosteroid use. The primary outcome for the study is the myocardial performance index (MPI), measured by standard Doppler echocardiography. The study will last 24 months with visits at Months 0.5,1.5, 6, 12, 18 and 24. Following completion of the Clinical Trial of Coenzyme Q10 and Lisinopril, participants will be offered participation in a companion protocol: PITT1215 A Natural History Companion Study to PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies. The objective of this study is to evaluate the longitudinal natural history of DMD, BMD, and LGMD2I and to evaluate the effects of Coenzyme Q10 and/or Lisinopril on prevention of cardiac dysfunction in these disorders.This will be an 18-month longitudinal natural history study designed to accompany the Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies.INTERVENTIONALInclusion Criteria: * 8 years of age or older * Confirmed genetic diagnosis of Duchenne, Becker, or Limb Girdle muscular dystrophy * Beta-blocker naïve * Screening Doppler echocardiographic MPI measurement greater than or equal to 0.40 for the highest MPI value (spectral and tissue) or circumferential strain measured by STE that is less negative than or equal to - 23 * Normal left ventricular fractional shortening (≥28%) and no clinical cardiac symptoms * Has not participated in other therapeutic research protocol within the last 6 months prior to screening * Ability to swallow tablets Exclusion Criteria: * Spine curvature greater than 30% (based on the x-ray performed at screening) * History of significant concomitant illness or significant impairment of renal or hepatic function * History of hypersensitivity to ACE inhibitors * History of idiopathic or hereditary angioedema or a history of angioedema with prior ACE inhibitor use * Use of carnitine, creatine, glutamine, or any herbal medicines (this would not include herbal teas unless they are consumed daily with intended medicinal effect) in the 3-months prior to enrollment * CoQ10 and/or ACE inhibitor use for a duration greater than 6 months * CoQ10 and/or ACE inhibitor use in the 3-months prior to enrollment * CoQ10 serum level of 2.5 ug/ml or higher * Investigator assessment of inability to comply with protocolALL2024-10-18T00:00:002010-05-182010-05-182018-06-142010-05-202018-06-152010-022017-122017-12trueThe study will include 120 participants aged 8 and up with Duchenne, Becker, or autosomal recessive limb-girdle (specifically: LGMD 2C-2F and 2I) muscular dystrophies that have no clinical cardiac symptoms. Participants will be randomized to one of four arms: Arm 1 CoQ10 alone, Arm 2 Lisinopril alone, Arm 3 CoQ10 and Lisinopril or Arm 4 No study medication. Randomization will be stratified by ambulatory status and corticosteroid use. The primary outcome for the study is the myocardial performance index (MPI), measured by standard Doppler echocardiography. The study will last 24 months with visits at Months 0.5,1.5, 6, 12, 18 and 24. Following completion of the Clinical Trial of Coenzyme Q10 and Lisinopril, participants will be offered participation in a companion protocol: PITT1215 A Natural History Companion Study to PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies. The objective of this study is to evaluate the longitudinal natural history of DMD, BMD, and LGMD2I and to evaluate the effects of Coenzyme Q10 and/or Lisinopril on prevention of cardiac dysfunction in these disorders.This will be an 18-month longitudinal natural history study designed to accompany the Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies.Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Limb Girdle Muscular DystrophyPHASE2PHASE363myocardial performance index (MPI)The MPI is a sensitive, quantifiable, noninvasive measure of global ventricular function that is independent of cardiac geometry and heart rate. MPI is collected through standard echocardiogram assessment. MPI is a ratio of the total time spent in isovolumic activity (isovolumic contraction time and isovolumic relaxation time) to the time spent in ventricular ejection.every 6 monthsFalse8TrueFalseFalseFalse NCT00016653CNMC0599Cooperative International Neuromuscular Research GroupNETWORKCreatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy2011-10COMPLETEDThis study will help to determine the effectiveness of glutamine and creatine as a possible therapy for DMD. Boys with DMD who are enrolled in this trial will be randomly chosen to receive creatine monohydrate or glutamine or an inactive placebo orally for six months. Once a month during the six-month treatment period, the study participants will have their muscle strength evaluated using manual and computerized testing methods. This study will be conducted at several CINRG Centers throughout the U.S., Belgium, Israel and Puerto Rico. This study is supported by the Muscular Dystrophy Association.INTERVENTIONALINCLUSION CRITERIA * Aged 5 - 9 years old * Able to walk without assistance * Diagnosis of DMD confirmed by one of the following: * a) Positive X-linked family history; or * b) Dystrophin immunofluorescence and/or immunoblot, which shows complete dystrophin deficiency, and clinical picture consistent with DMD; or * c) Gene deletion test positive in the central rod domain (exons 25 - 60) of dystrophin, where reading frame can be predicted as 'out-of-frame', and clinical picture consistent with DMD. * Glucocorticosteroid-naive (i.e. has not been treated with prednisone or deflazacort within 1 year before the study began), or has been involved in other therapeutic research protocol within the last year * Forced Vital Capacity (a lung function test) \> 50% of predicted value * Evidence of muscle weakness by MRC score or clinical functional evaluation * MRC (manual muscle test) score variability no greater than 10% between screening visits 1 and 2 EXCLUSION CRITERIA * Failure to achieve any of the criteria listed above * Symptomatic DMD carrier * Symptomatic cardiomyopathy or ventricular arrhythmias * Previous (6 months or less) or current use of glutamine or creatine (for DMD or any other indication) * Use of carnitine, other amino acids, coenzyme Q10, or any herbal medicines within the last month * History of significant concomitant illness or significant impairment of renal or hepatic function * Evidence of allergy to chocolate or milk solids (substances will be delivered in a powdered hot cocoa mixture)MALE2024-10-18T00:00:002001-05-212001-05-222011-10-262001-05-232011-10-272000-062006-12This study will help to determine the effectiveness of glutamine and creatine as a possible therapy for DMD. Boys with DMD who are enrolled in this trial will be randomly chosen to receive creatine monohydrate or glutamine or an inactive placebo orally for six months. Once a month during the six-month treatment period, the study participants will have their muscle strength evaluated using manual and computerized testing methods. This study will be conducted at several CINRG Centers throughout the U.S., Belgium, Israel and Puerto Rico. This study is supported by the Muscular Dystrophy Association.Muscular Dystrophy, DuchennePHASE2PHASE348False59TrueFalseFalseFalse NCT02760277VBP15-003ReveraGen BioPharma, Inc.INDUSTRYAn Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)2019-07COMPLETEDThe main purposes of this study are to see if it is safe to use a new medication called vamorolone for more than two weeks in children with Duchenne muscular dystrophy (DMD), to see if vamorolone works for the treatment for DMD, and to see how any potential side effects compare to those seen in boys using steroids.INTERVENTIONALInclusion Criteria: 1. Participant's parent or legal guardian has provided written informed consent/HIPAA authorization prior to any extension study-specific procedures; 2. Participant has previously completed study VBP15-002 up to and including the Week 4 Follow-up assessments within 8 weeks prior to enrollment; and 3. Participant and parent/guardian are willing and able to comply with scheduled visits, study drug administration plan, and study procedures. Exclusion Criteria: 1. Participant had a serious or severe adverse event in study VBP15-002 that, in the opinion of the Investigator, was probably or definitely related to vamorolone use and precludes safe use of vamorolone for the subject in this study; 2. Participant has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression; 3. Participant has current or history of chronic systemic fungal or viral infections; 4. Participant has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study medication; 5. Participant has evidence of symptomatic cardiomyopathy. \[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\]; 6. Participant is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents. \[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 3 months cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis. Inhaled and/or topical corticosteroids prescribed for an indication other than DMD are permitted but must be administered at stable dose for at least 3 months prior to study drug administration\]; 7. Subject has used idebenone within 4 weeks prior to the first dose of study medication; 8. Participant has an allergy or hypersensitivity to the study medication or to any of its constituents; 9. Participant has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator; 10. Participant has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator; or 11. Participant is currently taking any investigational drug, or has taken any investigational drug other than vamorolone within 3 months prior to the start of study treatment. Note: Participants may be re-evaluated if ineligible due to a transient condition which would prevent the subject from participatingMALE2024-10-18T00:00:002016-04-282016-04-302019-07-192016-05-032019-07-232016-07-282018-04-262018-04-26trueThe main purposes of this study are to see if it is safe to use a new medication called vamorolone for more than two weeks in children with Duchenne muscular dystrophy (DMD), to see if vamorolone works for the treatment for DMD, and to see how any potential side effects compare to those seen in boys using steroids.Duchenne Muscular DystrophyPHASE248Number of Participants With Adverse Events as Assessed by CTCAE Version 4.03Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination). Serious adverse events were recorded for up to 30 days after the final administration of study drug; To evaluate the long-term safety and tolerability of vamorolone, administered orally at daily doses up to 6.0 mg/kg/day over a 24- week Treatment Period, in boys ages 4-7 years with DMD.24 weeksTotal Number of Adverse Events as Assessed by CTCAE Version 4.03Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination). Serious adverse events were recorded for up to 30 days after the final administration of study drug; To evaluate the long-term safety and tolerability of vamorolone, administered orally at daily doses up to 6.0 mg/kg/day over a 24- week Treatment Period, in boys ages 4-7 years with DMD.24 weeksMuscle Function Measured by Time to Stand Test (TTSTAND)- VelocityTo compare the efficacy, as measured by the Time to Stand Test (TTSTAND), of vamorolone administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. untreated DMD historical controls in boys ages 4-7 years with DMD002 Baseline, 003 Baseline, 003 Week 12, Week 24 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)BMI Z-scoreSummary of BMI Z-score of Safety Population. Please note 0 is the mean. A negative result indicates a response that is many standard deviations below the mean, and a positive result indicates a response that is many standard deviations above the mean. In this case, the closer the group mean BMI Z-score is to 0 is more favorable.002 Baseline, 003 Week 12, Week 24Serum Pharmacodynamics Biomarkers Measured by Levels of HbA1cTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Week 8, 003 Week 16, 003 Week 24, 003 Week 26-29Serum Pharmacodynamics Biomarkers Measured by Levels of ACTHTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Baseline, 003 Week 8, 003 Week 16, 003 Week 24, 003 Week 26-29 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Serum Pharmacodynamics Biomarkers Measured by Levels of Fasting GlucoseTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Week 12, 003 Week 24Serum Pharmacodynamics Biomarkers Measured by Levels of Fasting InsulinTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Week 12, 003 Week 24Serum Pharmacodynamics Biomarkers Measured by Levels of OsteocalcinTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Baseline, 003 Week 8, 003 Week 16, 003 Week 24, 003 Week 26-29 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Serum Pharmacodynamics Biomarkers Measured by Levels of P1NPTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Baseline, 003 Week 8, 003 Week 16, 003 Week 24, 003 Week 26-29 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Serum Pharmacodynamics Biomarkers Measured by Levels of CTXTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period vs. prednisone-treated historical controls, on serum pharmacodynamic (PD) biomarkers of safety (insulin resistance, adrenal axis suppression, and bone turnover). SomaScan aptamer panels testing 1,200 serum proteins were used to discover a candidate set of prednisone-responsive biomarkers, with a subset of these validating in a longitudinal sample set (individual DMD patients pre/post steroid treatment). These PD biomarkers were assigned to a safety panel or efficacy panel based on comparison to normal controls and information concerning the function of each protein.002 Baseline, 003 Baseline, 003 Week 8, 003 Week 16, Week 24, 003 Week 26-29 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Muscle Strength, Mobility, and Functional Exercise Capacity as Measured by Time to Climb Test (TTCLIMB)- VelocityTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period, on muscle strength, mobility and functional exercise capacity vs. historical controls as measured by Time to Climb Test (TTCLIMB) in boys ages 4-7 years with DMD.002 Baseline, 003 Baseline, 003 Week 12, 003 Week 24 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Muscle Strength, Mobility, and Functional Exercise Capacity as Measured by Time to Run/Walk 10 Meters Test (TTRW)- VelocityTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period, on muscle strength, mobility and functional exercise capacity vs. historical controls as measured by Time to Run/Walk Test (TTRW) in boys ages 4-7 years with DMD.002 Baseline, 003 Baseline, 003 Week 12, 003 Week 24 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Muscle Strength, Mobility, and Functional Exercise Capacity as Measured by North Star Ambulatory Assessment (NSAA)To investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period, on muscle strength, mobility and functional exercise capacity vs. historical controls as measured by North Star Ambulatory Assessment (NSAA) in boys ages 4-7 years with DMD. \*\*\*Total NSAA score is being reported. The score can range from 0 to 32. Higher scores (approaching 32) indicate a better outcome assessing functional mobility.002 Baseline, 003 Baseline, 003 Week 12, 003 Week 24 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)Muscle Strength, Mobility, and Functional Exercise Capacity vs. Historical Controls as Measured by 6-minute Walk Test (6MWT) MetersTo investigate the effects of vamorolone, administered orally at daily doses up to 6.0 mg/kg over a 24-week Treatment Period, on muscle strength, mobility and functional exercise capacity vs. historical controls as measured by 6-minute Walk Test (6MWT) in boys ages 4-7 years with DMD.002 Baseline, 003 Baseline, 003 Week 12, 003 Week 24 (Note: 002 Baseline is from VBP15-002 4 week study (NCT02760264), previous to VBP15-003)False47FalseFalseFalseFalse NCT04669847Trunk Training Exercise in DMDAkdeniz UniversityOTHERThe Effects of Trunk Exercises on Upper Extremity and Respiratory Functions in DMD2020-12COMPLETEDThe aim of this study was to investigate the effects of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy (DMD). 26 children with DMD aged 5-16 were included in the study. They were divided into two groups (study and control). The study group exercised with the trunk-oriented exercise program and the conventional exercise program under the supervision of a physiotherapist, whereas the control group underwent the conventional exercise program under the supervision of their families at home for 8 weeks. Trunk control, the upper extremity function and respiratory function test were assessed before and after the 8-week exercise program in this study.INTERVENTIONALInclusion Criteria: * Diagnosed with Duchenne Muscle Dystrophy * No injuries and no neurological or orthopedic surgery in the last 6 months * No other systemic or orthopedic / neurological disorders to prevent exercise Exclusion Criteria: -MALE2024-10-18T00:00:002020-01-092020-12-152020-12-152020-12-172020-12-172018-04-072019-04-012019-12-06falseFalseFalseThe aim of this study was to investigate the effects of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy (DMD). 26 children with DMD aged 5-16 were included in the study. They were divided into two groups (study and control). The study group exercised with the trunk-oriented exercise program and the conventional exercise program under the supervision of a physiotherapist, whereas the control group underwent the conventional exercise program under the supervision of their families at home for 8 weeks. Trunk control, the upper extremity function and respiratory function test were assessed before and after the 8-week exercise program in this study.Muscular Dystrophy, Duchenne;Upper Extremity;Respiratory FunctionsNA26Trunk controlThe trunk control levels of the children were determined according to the Trunk Control Measurement Scale (TCMS). TCMS consists of two sections: static sitting balance and dynamic sitting balance. Dynamic sitting balance is also divided into two subscales: selective movement control and dynamic reaching. The whole scale includes 15 items and all items are scored on a two-, three- or four-point ordinal scale. The total score of the TCMS ranges from 0 to 58, a higher score indicating a better performance of trunk control. TCMS is found to be a reliable and valid assessment to measure trunk control in boys with DMD.8 weeksUpper extremity functionUpper Limb Performance was evaluated with The Performance of Upper Limb (PUL) scale. PUL consists of 22 items in total, the items that evaluate upper extremity function at the distal (hand-wrist), middle (elbow), and shoulder levels, and the first item of the scale to evaluate the general upper extremity level. Score options are range from 0-1 to 0-6 depending on the performance of the first item. Each level is evaluated separately, with a maximum score of 16 from the shoulder level, 34 from the middle level, and 24 from the distal level, and a total score of 0-74.8 weeks.Respiratory function (FEV1)Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of forced expiratory volume in one second (FEV1) value relative to the expected value was recorded in pulmonary function test.8 weeks.Respiratory function (FVC)Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of forced vital capacity (FVC) value relative to the expected value was recorded in pulmonary function test.8 weeks.Respiratory function (PEF)Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of peak flow rate (PEF) value relative to the expected value was recorded in pulmonary function test.8 weeks.False516FalseFalseFalseFalse NCT039634532019/260 part IIHaukeland University HospitalOTHERRegular Physical Exercise in Duchenne Muscular Dystrophy2021-12COMPLETEDThis study examine whether an evidence-based individual user-preferred exercise program will increase the physical activity level in boys with Duchenne muscular Dystrophy (DMD).OBSERVATIONALInclusion Criteria: * Patients with conclusive DMD diagnosis * Written consent * Able to perform physical exercise and answer questions Exclusion Criteria: * Lack of consent * Cognitive disabled unable to answer questionnaire, understand instructions, and able to know what they participate in. * Language difficultiesMALE2024-10-18T00:00:002019-05-092019-05-222023-02-282019-05-242023-03-012021-02-012022-03-302022-04-30falseFalseFalseThis study examine whether an evidence-based individual user-preferred exercise program will increase the physical activity level in boys with Duchenne muscular Dystrophy (DMD).Muscular Dystrophy, Duchenne12Physical Activity LevelThe participants physical activity level will be monitored by use of an ActiGraph for seven days including a weekend. Two registrations will take place during a four week baseline period, followed by additional registrations at 3, 6, 9 and 12 months (intervention period).Change from Baseline Physical Activity level at 12 months.Physical Activity Questionnaire for children (PAQ-C)The PAQ-C is a self-administrated, 7 day recall instrument, developed to assess general levels of physical activity throughout the elementary school year. The PAQ-C provides a summary physical activity score derived from nine items, each scored on a 5-point scale. The nine items and scores are: 1. "Spare time activities". Score "no activity" being a 1, "7 times or more" being a 5. 2. "Physical education". 3. "Recess".4. "Lunch". 5 "Right after school". 6 "Evening". 7 "Weekend". 8. "Describe you best". Each of these 7 item start from lowest activity response (score 1) to the highest activity response (score 5). 9. How often did you do physical activities for each weekday? None=score 1 Little bit = score 2, Medium = score 3, Often = score 4, Very often = Score 5. Item 9 mean score is reported. Total score 45 represents the participant's general level of physical activity. The participants perform the PAQ-C at baseline and at every hospital visit (start, 6 and 12 months).Change from Baseline PAQ-C score at 12 monthsPhysical Activity DiaryDuring physical activity registration with use of ActiGraph monitor, the participants and parents are asked to fill out a diary, describing type of physical activity been performed, for how long the physical activity was performed, how tired the participants became, and how did the participant enjoy the activity being performed. In addition the participants is asked to give a summary of the week regarding to name the most enjoyable activity this week and the reason why, and to describe if there occurred something unusual that increased or decreased their physical activity level more than regular.Day 1 (daily for seven days)Pediatric Quality of Life Inventory (PedsQL version 4). Child Report.The Pediatric Quality of Life Inventory TM (PedsQL TM) is a questionnaire measuring measures quality of life in children, adolescents and young adults. The questionnaire have four subscales with a total of 23 items. Each items with score 0 to 4. The subscales are Physical functioning (eight items), Emotional functioning (five items), Social functioning (five items) and School functioning (five items). A score can be calculated for each subscale. Total score 100 points indicate optimal quality of life. A Psychosocial score can also be calculated (based on the subscales Emotional, Social and School functioning). Participants will report from PedQoL at start and end of study.Change from Baseline quality of life at 12 monthsNorth Star Ambulatory AssessmentStandardised test for individual with DMD and Spinal Muscular Atrophy able to ambulate. The following physical activities and functions being quantified: Stand, Walk, Stand up from chair, Stand on one leg (right and left), Climb box step (right and left), descend box step (right and left), Get to sitting, Rise from floor, lifts head, Stands on heels, jump, hop on one leg (right and left), run (10 meter timed test). Performed at every three hospital visit during study period.Change from Baseline functioning at 12 months"Egen Klassification 2- scale" (EK2 scale)Standardised functional assessment for individuals with DMD not able to walk. The following functions and activities are quantified: Ability to use wheelchair, ability to transfer from wheelchair, ability to stand, ability to balance in the wheelchair, ability to move arms, ability to use the hands and arms for eating, ability to turn in bed, ability to cough, ability to speak, physical well-being, Daytime fatigue, head control, ability to control joystick, food textures, eating a meal, swallowing, hand function which of these activities can you do. A total score possible to achieve is 51 points (0-3 point grading on each function), higher score indicating lower degree of functioning. The test will be performed at each hospital visitChange from Baseline functioning at 12 monthsMuscular strength- abdominal musclesIsometric testing of abdominal muscles. The force being developed will be recorded as Nm and Kg. The participants will be tested at start, after 6 and 12 months.Change from Baseline muscular strength at 12 monthsMuscular strength - hand gripIsometric testing of hand grip. The force being developed will be recorded as Nm and Kg. The participants will be tested at start, after 6 and 12 months.Change from Baseline muscular strength at 12 monthsThe 6 minutes assisted bicycling testStandardized test where participants will perform a 6 minutes arm cycling test, and the distance, heart rate and perceived exhaustion scored at OMNI scale will be recorded. The test will be performed at each of the three hospital visits.Change from Baseline physical capacity at 12 monthsBlood sample - Creatin kinase (CK) valueVenous blood samples, as biomarker for muscle inflammation or tissue damage, measured by U/L. Assessment of CK will be performed for safety reasons due to intervention. Blood samples will be performed three mornings during the hospital visits.Day 1, day 3 and day 5.Lung function - Forced Vital Capacity (FVC).Performed by use of spirometry assessment. Measured by liters in absolute value and percent predicted value. Lung function will be measured at each of the three times during study period.Change from Baseline FVC at 12 monthsLung function - Forced Expiratory Flow first second (FEV1).Performed by use of spirometry assessment. Measured by liters in absolute value and percent predicted value. Lung function will be measured at each of the three times during study period.Change from Baseline FEV1 at 12 monthsLung function - FEV1/FVC ratio.Spirometry assessment. The Ratio is calculated in percent value. All participants will be examined at all three hospital visits during study period.Change from Baseline FEV1/FVC ratio at 12 months.Lung function - Peak Expiratory Flow (PEF).Spirometry assessment. The maximal airflow achieved during expiration maneuver, measured as liters per second.Change from Baseline PEF at 12 months.Lung function - Slow Vital Capacity (SVC).The Participant's SVC measured as liters / absolute value will be registered at each hospital visit during study period.Change from Baseline SVC at 12 monthsRespiratory muscle function - Maximal Inspiratory Pressure (MIP)The Participant's MIP will be measured and registered as absolute value cm water pressure (cm H20) at each hospital visits during the study period.Change from Baseline MIP at 12 monthsRespiratory muscle function - Maximal Expiratory Pressure (MEP)The Participant's MEP will be measured and registered as absolute value cm water pressure (cm H20) at each hospital visits during the study period.Change from Baseline MEP at 12 monthsLung function - Peak Cough Flow (PCF)The Participant's PCF will be measured and recorded as absolute value liters per minutes at each hospital visits during the study period.Change from Baseline PCF at 12 monthsBody composition - total body fat tissue massParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify total fat mass (kilogram and percent) at start and end of study periodChange from baseline body fat tissue mass at 12 monthsBody composition - fat tissue mass of the trunkParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify fat mass of the trunk (kilogram and percent) at start and end of study periodChange from baseline body fat tissue mass at 12 monthsBody composition - fat tissue mass of the armsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify fat mass of the arms (kilogram and percent) at start and end of study periodChange from baseline body fat tissue mass at 12 monthsBody composition - fat tissue mass of the legsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify fat mass of the legs (kilogram and percent) at start and end of study periodChange from baseline body fat tissue mass at 12 monthsBody composition, Participant's lean tissue mass, total bodyParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify both total lean tissue mass (kilogram and percent) at start and end of study periodChange from baseline body lean tissue mass at 12 monthsBody composition, Participant's lean tissue mass of the trunkParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify lean tissue mass of the trunk (kilogram and percent) at start and end of study periodChange from baseline body lean tissue mass at 12 monthsBody composition, Participant's lean tissue mass of the armsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify lean tissue mass of the arms (kilogram and percent) at start and end of study periodChange from baseline body lean tissue mass at 12 monthsBody composition, Participant's lean tissue mass of the legsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify lean tissue mass of the legs (kilogram and percent) at start and end of study periodChange from baseline body lean tissue mass at 12 monthsBody composition - Bone Mineral Content (BMC), total bodyParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify total BMC (kilogram and percent) at start and end of study periodChange from Baseline bone mineral density at 12 monthsBody composition - Bone Mineral Content (BMC) of the trunkParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify the trunk BMC (kilogram and percent) at start and end of study periodChange from Baseline bone mineral density at 12 monthsBody composition - Bone Mineral Content (BMC) of the armsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify the arm's BMC (kilogram and percent) at start and end of study periodChange from Baseline bone mineral density at 12 monthsBody composition - Bone Mineral Content (BMC) of the legsParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify the leg's BMC (kilogram and percent) at start and end of study periodChange from Baseline bone mineral density at 12 monthsBody composition - bone mineral density. Lumbal columnParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify mineral (grams/ square centimeter) of the lumbar column at start and end of study period.Change from Baseline bone mineral density at 12 monthsBody composition - bone mineral density. Hip boneParticipants will be assessed using a Lunar iDXA dual x-ray scanner (dxa-scan), to quantify mineral (grams/ square centimeter) of the hip bone at start and end of study period.Change from Baseline bone mineral density at 12 monthsAnthropometric measure - ageThe participants age measured in years of age will be registered at start and end of study periodDay 1Anthropometric measure - body heightThe Participant's height measured in centimeter (cm) will be registered at each hospital visit during study period.Day 1Anthropometric measure - body weightThe Participant's body weight measured as kilograms will be measured and registered at each hospital visit during study periodDay 1Anthropometric measure - Body Mass Index (BMI)The Participant's BMI will be calculated by (kg/m2). at each hospital visit during the study period.Day 1Cardiac function - Blood PressureThe participants systolic and diastolic blood pressure will be registered (mmHg) at start and end of study periodDay 2Cardiac function. Echocardiography - Left ventricular massParticipants will undergo Ultrasound of the heart, using the cube formula indexed by Height (centimeter\^2.7), derevid from two dimensional linear left ventricular measurements (gram per meter \^2.7) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) systolic function by ejection fractionParticipants will undergo Ultrasound of the heart, measuring LV ejection fraction (%) derived from 2D linear LV measurements (Teichholz) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) systolic function by biplane SimpsonParticipants will undergo Ultrasound of the heart, measuring LV ejection fraction (%) derived from 2D linear LV measurements (Teichholz) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) systolic function by tissue dopplerParticipants will undergo Ultrasound of the heart, measuring LV systolic tissue Doppler (meter/second) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) systolic function by speckle trackingParticipants will undergo Ultrasound of the heart, measuring LV global, longitudinal 2D speckle tracking (%) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) diastolic function by tissue dopplerParticipants will undergo Ultrasound of the heart, measuring the ratio of doppler transmitral flow (E) and tissue doppler derived early diastolic velocity (E merk) (without any unit) at start and end of study.Day 2Cardiac function. Echocardiography - Left ventricular (LV) diastolic function by isovolumic relaxation time (IVRT)Participants will undergo Ultrasound of the heart, measuring IVRT in milliseconds (ms) at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG), heart rate (HR)Participants will undergo ECG, measuring HR beats per minute at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG) - QRS durationParticipants will undergo ECG, measuring QRS by milliseconds at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG) - PR intervalParticipants will undergo ECG, measuring PR interval by milliseconds at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG) - QT timeParticipants will undergo ECG, measuring PR interval by milliseconds at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG) - QT time correctedParticipants will undergo ECG, measuring QT time corrected by milliseconds at start and end of study.Day 2Cardiac function. Electro cardiogram (ECG) - QRS axisParticipants will undergo ECG, measuring QRS axis in grades at start and end of study.Day 2False618FalseFalseFalseFalse NCT05712447CAS-CAS005-01The Emmes Company, LLCINDUSTRYDuchenne Muscular Dystrophy Video Assessment Registry2023-12RECRUITINGARISE is a prospective and longitudinal clinical study of individuals with Duchenne Muscular Dystrophy (DMD) aimed at creating a database of functional motor abilities in this population to support validation efforts of the Duchenne Video Assessment (DVA).OBSERVATIONALInclusion Criteria: * At least 2 years of age at time of consent * Written consent (English only) by adult participant or parent/legal guardian of minor participant * Written assent (English only) if minor participant is at least 7 years of age * Documentation provided for the participant's diagnosis of DMD (i.e., genetic report, clinic note) Exclusion Criteria: Participants will be excluded if they are unable to use a hand to hold a pen, pick up pennies or drive a powerchair.ALL2024-10-18T00:00:002022-11-302023-02-012023-12-122023-02-032023-12-182022-09-012025-09-012027-09-01falseFalseFalseARISE is a prospective and longitudinal clinical study of individuals with Duchenne Muscular Dystrophy (DMD) aimed at creating a database of functional motor abilities in this population to support validation efforts of the Duchenne Video Assessment (DVA).Duchenne Muscular Dystrophy180Duchenne Video Assessment (DVA)The DVA is a home-based clinical outcome assessment that measures ease of movement through identification of compensatory movement patterns. The DVA includes 18 standardized movement tasks that are assigned to participants based on functional subgroup. The DVA directs and trains caregivers to video record patients doing specific movement tasks at home using a secure mobile application. DVA videos are scored by DVA-certified physical therapists using validated scorecards with prespecified compensatory movement criteria.24 monthsNorth Star Ambulatory Assessment (NSAA)The NSAA is a 17-item tool used to measure functional motor abilities in ambulatory individuals with DMD. Physical therapists with experience administering the NSAA will remotely administer and record the live NSAA sessions via a secure video conference platform. Participants will receive the appropriate standardized testing equipment.24 monthsPerformance of Upper Limb 2.0 (PUL 2.0)The PUL 2.0 is a 22-item rating scale used to measure upper limb abilities in individuals with DMD. The test includes an entry test item to define starting functional level and 21 test items subdivided into shoulder level, elbow level, and distal level. Physical therapists with experience administering the PUL 2.0 will remotely administer and record the live PUL 2.0 sessions via secure video conference platform. Participants will receive the appropriate standardized testing equipment.24 monthsCaregiver Task-Specific Impression of ChangeAt each follow-up assessment timepoint, parents/legal guardians or recording partners will complete an electronic questionnaire to rate their impression of change in the participant's ability to perform each DVA movement task since the prior timepoint.24 months2FalseFalseFalseFalse NCT02964377951753University of California, DavisOTHERPlus Epicatechin Duchenne Muscular Dystrophy in Non-ambulatory Adolescents2021-11COMPLETEDThis single center open-label pilot study will enroll 15 non-ambulatory children with Duchenne muscular dystrophy at least 8 years of age and who demonstrate pre-clinical cardiomyopathy (defined as a cardiac ejection fraction \>55% with abnormal LV strain by cardiac MRI). They will receive (+)-epicatechin at one of three doses during an 8-week dose-ranging study with assessments at baseline, 2 Weeks, 4weeks, and 8 weeks. The study will determine optimal dosing for future cardiac efficacy studies based on serum / plasma biomarker response using follistatin: myostatin ratio, nitrite/nitrate ratio, cardiac troponins and cardiac BNP. Secondary endpoints will include additional biomarker assessments by SOMAscanTM, cardiac functional evaluations by cardiac MRI (LV strain), and echocardiogram (LV strain by speckle tracking) and measures of strength, range of motion and mobility, and clinical safety assessments. Results of secondary endpoint analysis will be used to refine design of subsequent clinical trials powered to detect changes in clinical outcomes.INTERVENTIONALInclusion Criteria: * Male * Age 8 years to 17 years * Non-Ambulatory (unable to complete 10m run/walk under 10s) * Weight \</=100Kg * Diagnosis of DMD confirmed by at least one the following: * Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD, or * Gene deletions test positive (missing one or more exons) of the dystrophin gene, where reading frame can be predicted as 'out-of-frame', and clinical picture consistent with typical DMD, or * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, or other mutation resulting in a stop codon mutation) that can be definitely associated with DMD, with a typical clinical picture of DMD, or * Positive family history of DMD confirmed by one of the criteria listed above in a sibling or maternal uncle, and clinical picture typical of DMD. * Cardiac ejection fraction \>55% on echocardiogram * Use of nutritional, herbal and antioxidant supplements taken with the intent of maintaining or improving skeletal muscle strength or functional mobility has been discontinued at least 4 weeks prior to screening (daily multivitamin use is acceptable). * Glucocorticoid therapy, if used, must have a stable weight-based dose for at least 3 months prior to enrollment * Cardiac therapy, if used, includes prophylactic ACE inhibitors, aldosterone receptor antagonists (e.g. spironolactone, eplerenone, etc.), and/or beta-blocker therapy, and must be stable for 3 months prior to enrollment. * Hematology profile within normal range. * Baseline laboratory safety chemistry profile within typical range for DMD (elevated ALT / AST acceptable in the absence of elevated GGT, elevated CK acceptable). Exclusion Criteria: * Inability to complete cardiac or strength, range of motion and mobility assessments per protocol * Current enrollment in another treatment clinical trial. * History of significant concomitant illness or significant impairment of renal or hepatic function. * Use of regular daily aspirin or other medication with antiplatelet effects within 3 weeks of first dose of study medication. * Cardiac symptoms that, in the opinion of the investigator, may be suggestive of imminent moderate to severe cardiac events, irrespective of LVEF.MALE2024-10-18T00:00:002016-11-072016-11-102021-11-222016-11-162021-12-212016-112018-072018-07falseThis single center open-label pilot study will enroll 15 non-ambulatory children with Duchenne muscular dystrophy at least 8 years of age and who demonstrate pre-clinical cardiomyopathy (defined as a cardiac ejection fraction \>55% with abnormal LV strain by cardiac MRI). They will receive (+)-epicatechin at one of three doses during an 8-week dose-ranging study with assessments at baseline, 2 Weeks, 4weeks, and 8 weeks. The study will determine optimal dosing for future cardiac efficacy studies based on serum / plasma biomarker response using follistatin: myostatin ratio, nitrite/nitrate ratio, cardiac troponins and cardiac BNP. Secondary endpoints will include additional biomarker assessments by SOMAscanTM, cardiac functional evaluations by cardiac MRI (LV strain), and echocardiogram (LV strain by speckle tracking) and measures of strength, range of motion and mobility, and clinical safety assessments. Results of secondary endpoint analysis will be used to refine design of subsequent clinical trials powered to detect changes in clinical outcomes.Duchenne Muscular DystrophyPHASE1PHASE215Pharmacokinetics Outcome: Absolute Values of (+)-Epicatechin Serum Concentration, Pre-dose (Trough) and 2 Hours Post-dose (Peak)Pharmacokinetic evaluation for dose-response evaluation.Pre-dose and 2 hours post-dose at baselinePharmacokinetics Outcome: Absolute Values of (+)-Epicatechin Serum Concentration, Pre-dose (Trough) and 2 Hours Post-dose (Peak)Pharmacokinetic evaluation for dose-response evaluation.Week 4Laboratory Outcome: Absolute Plasma Follistatin:Myostatin Ratio at Baseline, Week 4 and Week 8Evaluation of follistatin:myostatin ratio from plasma samples.Baseline, Week 4 and Week 8Clinical Outcome: Mean Percent of Baseline Cardiac Ejection Fraction by MRIEvaluation of change in cardiac volume and performance, as measured by the mean percent of baseline ejection fraction using Cardiac MRI, measured at 8 weeks.Week 8Safety: Number of Participants Who Experienced Treatment-Related Laboratory AbnormalitiesTreatment-related laboratory abnormalities, defined as values outside of the typical range for Duchenne Muscular Dystrophy. Safety laboratory tests included blood chemistry panel, complete blood count w/ differential panel, \& urinalysis assessments for clinical safety monitoring.Study duration (8 weeks)Laboratory Outcome: Absolute Values of Nitric Oxide (AU) Measured by ELISAProteomics evaluation of plasma biomarkers to confirm intervention-responsive pathophysiological pathways, using enzyme-linked immunosorbent assay (ELISA).Baseline, Week 4, Week 8Laboratory Outcome: Absolute Values of Carbonylation (AU) Measured by ELISAProteomics evaluation of plasma biomarkers to confirm intervention-responsive pathophysiological pathways, using enzyme-linked immunosorbent assay (ELISA).Baseline, Week 4, Week 8Laboratory Outcome: Absolute Values of Follistatin (AU) Measured by ELISAProteomics evaluation of plasma biomarkers to confirm intervention-responsive pathophysiological pathways, using enzyme-linked immunosorbent assay (ELISA).Baseline, Week 4, Week 8Laboratory Outcome: Absolute Values of Myostatin (AU) Measured by ELISAProteomics evaluation of plasma biomarkers to confirm intervention-responsive pathophysiological pathways, using enzyme-linked immunosorbent assay (ELISA).Baseline, Week 4, Week 8Clinical Outcome: Percent of Normalized Upper Extremity Reachable Surface Area at Week 4 and Week 8Quantitative upper extremity reachable workspace will be assessed using the XBox Kinect system. The KINECT Upper Extremity Reachable Workspace test measures surface area of a reachable workspace "bubble", normalized to the size of the individual, noted as the RSA or Reachable Surface Area. The Total RSA measure is the sum of four quadrants dividing superior and inferior medial and lateral spaces. A total score of 1 indicates a typical reachable workspace, while lower scores indicate restrictions in one or more of the four quadrants.Baseline, Week 4, Week 8Clinical Outcome: Total Score Using Performance of the Upper Limb AssessmentThe standardized Performance of Upper Limb (PUL) measure will be assessed at baseline and after 4 \& 8 weeks. The Performance of the Upper Limb module is an observer-administered performance battery of upper extremity mobility tasks for the shoulder (upper, 6 items, 12 points), elbow (middle, 9 items, 17 points) and wrist/hand (distal, 7 items, 13 points). Higher scores indicate higher level of function. Total score ranges from 0-42 points and is the sum of the scores for the three subscales (10 upper, 10 mid, and 14 distal).Baseline, Week 4, Week 8Clinical Outcome: Mean Maximal Attained Revolutions Per 6-minute Cycle TestThe Assisted Six-Minute Cycle Test is an ergometer-based assessment of upper limb function. Test results indicate the maximum number of ergometer revolutions achieved in six-minutes, with higher numbers indicating a greater degree of functional capacity.Baseline, Week 4, Week 8Person-Reported Outcome: Upper Extremity Standardized Mean Score Using Pediatric Outcomes Data Collection Instrument (PODCI) Quality of Life InstrumentThe PODCI instrument was developed by Daltroy and colleagues with support by the Pediatric Orthopaedic Society of North America (POSNA). The PODCI is a 108-item questionnaire that evaluates global functioning in the pediatric orthopedic population utilizing four components: upper extremity functioning, transfers and basic mobility, sports and physical functioning and a comfort/pain score. Global functioning is assessed by the average of the four previous scores. All scales are scored from zero to 100, with 100 representing the highest level of functioning and least pain. The PODCI asks questions such as "During the last week, was it easy or hard for you to ... lift heavy books".Baseline to Week 4 and Week 8Person-Reported Outcome: Mean Person-Reported Outcome Measure Upper Limb (PROM-UL) Functional Capacity ScoreThe Performance of Upper Limb module (PUL) for DMD was designed according to a specific contextual framework of upper limb function in both ambulant and non-ambulant individuals with DMD. The UL-PROM closely linked to this motor performance based clinician-reported outcome measure, was developed to evaluate manual ability related to activities of daily living (ADL) that cannot be observed in a clinical setting. Items were selected in relation to the different domains of the PUL from proximal to distal performance in order to cover the full range of upper limb functions. The questionnaire consists of 33 items covering four domains (3 points each for Food/Nutrition 7 items, Self Care 8 items, Household/Environment 6 items, Leisure/Communication 12 items). Higher scores indicate greater function, with total score being a sum of the subscale scores (Ranging from 0 to 99).Change from Baseline to Week 4 and Week 8False817FalseFalseFalseTrue NCT00592553PTC124-GD-007-DMDPTC TherapeuticsINDUSTRYPhase 2B Study of PTC124 (Ataluren) in Duchenne/Becker Muscular Dystrophy (DMD/BMD)2020-03COMPLETEDDMD/BMD is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 13 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b trial that will evaluate the clinical benefit of ataluren in boys with DMD/BMD due to a nonsense mutation. The main goals of the study are to understand whether ataluren can improve walking, activity, muscle function, and strength and whether the drug can safely be given for a long period of time.INTERVENTIONALInclusion Criteria: * Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \<18 years of age). * Male sex. * Age ≥5 years. * Phenotypic evidence of DMD/BMD based on the onset of characteristic clinical symptoms or signs (that is, proximal muscle weakness, waddling gait, and Gowers' maneuver) by 9 years of age, an elevated serum CK level, and ongoing difficulty with ambulation. * Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA), or an equivalent organization. * Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene. * Ability to walk ≥75 meters unassisted during the screening 6-minute walk test. Note: Other personal assistance or use of assistive devices for ambulation (for example, short leg braces, long leg braces or walkers) were not permitted. * Confirmed screening laboratory values within the central laboratory ranges (hepatic, adrenal, renal, and serum electrolytes parameters). * In participants who were sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and 6-week follow-up periods. * Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation (in particular, the ability to satisfactorily perform the 6MWT) should have been considered. Exclusion Criteria: * Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment. * Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or change in systemic corticosteroid therapy (for example, initiation, change in type of drug, dose modification not related to body weight change, schedule modification, interruption, discontinuation, or reinitiation) within 3 months prior to start of study treatment. * Any change (initiation, change in type of drug, dose modification, schedule modification, interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure within 3 months prior to start of study treatment. * Treatment with warfarin within 1 month prior to start of study treatment. * Prior therapy with ataluren. * Known hypersensitivity to any of the ingredients or excipients of the study drug (Litesse® UltraTM \[refined polydextrose\], polyethylene glycol 3350, Lutrol® micro F127 \[poloxamer 407\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \[colloidal silica\], magnesium stearate). * Exposure to another investigational drug within 2 months prior to start of study treatment. * History of major surgical procedure within 30 days prior to start of study treatment. * Ongoing immunosuppressive therapy (other than corticosteroids). * Ongoing participation in any other therapeutic clinical trial. * Expectation of major surgical procedure (for example, scoliosis surgery) during the 12-month treatment period of the study. * Requirement for daytime ventilator assistance. * Clinical symptoms and signs of congestive heart failure (American College of Cardiology/American Heart Association Stage C or Stage D) or evidence on echocardiogram of clinically significant myopathy. * Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.MALE2024-10-18T00:00:002008-01-012008-01-012020-03-262008-01-142020-04-072008-02-292009-12-312009-12-31trueDMD/BMD is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 13 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2b trial that will evaluate the clinical benefit of ataluren in boys with DMD/BMD due to a nonsense mutation. The main goals of the study are to understand whether ataluren can improve walking, activity, muscle function, and strength and whether the drug can safely be given for a long period of time.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE2174Change From Baseline in 6MWD at Week 48The 6MWD test was performed in a 30 meters long flat corridor, where the participant was instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.Baseline, Week 48Change From Baseline in Time to Stand From Supine Position at Week 48If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline, Week 48Change From Baseline in Time to Walk/Run 10 Meters at Week 48If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline, Week 48Change From Baseline in Time to Climb 4 Stairs at Week 48If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline, Week 48Change From Baseline in Time to Descend 4 Stairs at Week 48If the time taken to perform this test exceeded 30 seconds or if a participant could not perform this test due to disease progression, a value of 30 seconds was used. Change from baseline data has been reported.Baseline, Week 48Change From Baseline in Force Exerted During Knee Flexion and Extension, Elbow Flexion and Extension, and Shoulder Abduction at Week 48, as Assessed by MyometryUpper and lower extremity myometry was performed using a myometer following standardized procedures. Muscle groups evaluated included knee flexors, knee extensors, elbow flexors, elbow extensors, and shoulder abductors. Bilateral assessments were done and 3 measurements were recorded from each muscle group on each side if possible. Mean values for the left and right sides were calculated.Baseline, Week 48Change From Baseline in Mean Activity Period/Day/Visit at Week 48, as Assessed by Step Activity Monitoring (SAM)The SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean activity period/day/visit was computed for each participant. Mean obtained during Screening (Week -6 to -1) and following Week 1 visit were used as baseline data for analysis. For each day, an active period was defined as the first time after 3:00 AM that greater than (\>) 2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was less than (\<) 50 percent (%) of the mean active period across all days for that participant's visit.Baseline, Week 48Change From Baseline in Mean Total Step Count/Day/Visit During the Active Periods at Week 48, as Assessed by SAMThe SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean total step count/day/visit during the active periods was computed for each participant. Mean obtained during Screening (Week -6 to -1) and following Week 1 visit were used as baseline data for analysis. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline, Week 48Change From Baseline in Mean Total Step Count/Hour During the Active Period at Week 48, as Assessed by SAMThe SAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). Mean total step count/hour during the active periods for the days in a visit was computed for each participant. Mean obtained during Screening (Week -6 to -1) and following Week 1 visit were used as baseline data for analysis. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline, Week 48Change From Baseline in Maximum Continuous 10-minute, 20-minute, 30-minute, and 60-minute Total Step Count at Week 48, as Assessed by SAMSAM is a pedometer (worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again (that is, a stride generally equals 2 steps). The maximum continuous 10-minute, 20-minute, 30-minute, and 60-minute total step counts were computed for each participant. Mean obtained during Screening (Week -6 to -1) and following Week 1 visit were used as baseline data for analysis. For each day, an active period was defined as the first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline, Week 48Change From Baseline in Percentage of Time During the Active Period Spent at Low Activity (Less Than or Equal to [≤] 15 Steps/Minute), Medium Activity (16-30 Steps/Minute), and High Activity (Greater Than [>]30 Steps/Minute) at Week 48SAM is a pedometer(worn on the ankle) that continuously records the number of steps per time interval. Participants were instructed to continue to wear the SAM for at least 9 consecutive days. SAM was used to record the number of strides/minute following each visit. A stride is the leg motion that begins when the foot with SAM leaves the floor and ends when the same foot touches the floor again. Proportion of time during active periods spent at low activity(≤15 steps/minute), medium activity(16-30 steps/minute), and high activity(\>30 steps/minute) were computed for each participant. Mean obtained during Screening and following Week 1 visit were used as baseline data for analysis. For each day, an active period was defined as first time after 3:00 AM that \>2 strides/minute were recorded to the last time prior to midnight that \>2 strides/minute were recorded. Days were deleted on which such an active period was \<50% of the mean active period across all days for that participant's visit.Baseline, Week 48Change From Baseline in Participant- Reported Health-Related Quality of Life (HRQL) as Measured by the Pediatric Quality of Life Inventory (PedsQL) Physical, Emotional, Social, and School Functioning Domain Scores at Week 48HRQL was measured via the PedsQL. The generic core module (including physical, emotional, social and school functioning scales) comprises 23 questions and the fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Examples of items in each of the generic core module scales include: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating better health-related quality of life. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline, Week 48Change From Baseline in Parent/Caregiver- Reported HRQL as Measured by the PedsQL Physical, Emotional, Social, and School Functioning Domain Scores at Week 48HRQL was measured via the PedsQL. The generic core module (including physical, emotional, social and school functioning scales) comprises 23 questions and the fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Examples of items in each of the generic core module scales include: "It is hard for me to run"; "I feel sad or blue"; "I cannot do things that other kids my age can do;" and "It is hard to pay attention in class." Each of the generic core module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating better health-related quality of life. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline, Week 48Change From Baseline in Participant-Reported HRQL as Measured by the Total Fatigue Scale Score at Week 48HRQL was measured via the PedsQL. The fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. PedsQL was completed by both the participant and/or a parent/caregiver. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time;" Each of the fatigue-specific module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating less fatigue. Total score was the sum of all items over the number of items answered on all scales. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline, Week 48Change From Baseline in Parent/Caregiver-Reported HRQL as Measured by the Total Fatigue Scale Score at Week 48HRQL was measured via the PedsQL. The fatigue-specific module (including general fatigue, sleep/rest fatigue, and cognitive fatigue scales) comprises an additional 18 questions. The PedsQL was completed by both the participant and/or a parent/caregiver. Fatigue-specific module obtains information relating to items such as: "I feel too tired to do things that I like to do"; "I spend a lot of time in bed"; and "I have trouble remembering more than one thing at a time;" Each of the fatigue-specific module items was scored on a 5-point likert response scale from 0 (never a problem) to 4 (almost always a problem). Scores were transformed on a scale from 0 to 100 (0=100, 1=75, 2=50, 3=25, 4=0), with higher scores indicating less fatigue. Total score was the sum of all items over the number of items answered on all scales. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.Baseline, Week 48Parent/Caregiver-Reported Treatment Satisfaction Questionnaire for Medication (TSQM) ScoreTSQM consisted of 14 questions about treatment satisfaction with drug in 4 domains: Effectiveness (Questions 1-3 scored as 1 \[extremely dissatisfied\] to 7 \[extremely satisfied\]), Side Effects (question 4 scored as 0 \[no\] or 1 \[yes\]; question 5 scored as 1 \[extremely bothersome\] to 5 \[not at all bothersome\]; questions 6 - 8 scored as 1 \[a great deal\] to 5 \[not at all\]), Convenience (questions 9 and 10 scored as 1 \[extremely difficult\] to 7 \[extremely easy\]; question 11 scored as 1 \[extremely inconvenient\] to 5 \[extremely convenient\]) and Global Satisfaction (question 12 scored as 1 \[not at all confident\] to 7 \[extremely confident\]; question 13 scored as 1 \[not at all certain\] to 5 \[extremely certain\]; question 14 scored as 1 \[extremely dissatisfied\] to 5 \[extremely satisfied\]). The scores of each of the domains were added together and an algorithm was used to create a score of 0 to 100, with higher scores indicating better treatment satisfaction.Week 48Change From Baseline in Participant/Caregiver-Reported Number of Daily Accidental Falls at Week 48Number of falls was determined by daily diary records maintained by participants and/or parent/caregivers.Baseline, Week 48Change From Baseline in Number of Digits Recalled Forwards and Backwards on Digit Span Task at Week 48Basic attention and working memory was measured using the digit span task. A series of digits (0-9) were presented to the child in an auditory format only. The task had 2 parts; in the forward condition, the child was requested to repeat back the digits in the order they were presented and in the backward condition, he was requested to reverse the order of presentation. A raw score of the total number of correct responses was converted to an age-scaled-score (z-score) by subtracting the corresponding mean and dividing by the corresponding standard deviation of a reference population for that age.Baseline, Week 48Change From Baseline in Heart Rate Before, During, and After Each 6MWT at Week 48, as Assessed by Heart Rate Monitoring With the Polar® RS400The heart rate was measured with a Polar RS400 heart rate monitor, which consists of a transmitter strap worn around the chest and a wristwatch receiver. The monitor produces a digital text file with 1 value per minute that represents the mean heart rate for that minute. Mean heart rates values were collected prior to, during, and after the 6MWT. The participant rested for 5 minutes in a sitting position prior to the 6MWT, and the mean heart rate for the last minute of this rest period was collected and documented as the resting heart rate. During the 6MWT, the mean heart rate was collected and documented as the active heart rate. After completing the 6MWT and resting for 3 minutes, the mean heart rate for 1 minute was collected and documented as the recovery heart rate.Baseline, Week 48Change From Baseline in Serum Concentration of Creatine Kinase (CK) at Week 48Blood samples collected for chemistry assays were used to quantify serum CK concentrations. Serum CK was assessed as a potential biomarker for muscle fragility, with a reduction in serum CK considered to be a positive outcome.Baseline, Week 48Percent Change From Pre-Treatment Visit (1 Week Prior to Baseline Visit) in Biceps Muscle Dystrophin Expression at Post-Treatment Visit (Week 36), as Determined by ImmunofluorescenceImmunofluorescence evidence of a change in dystrophin expression on biceps muscle biopsy was defined as an increase in the staining of the sarcolemmal membrane with an antibody to the C-terminal portion of the dystrophin protein (excluding revertant fibers) between the pre-treatment (1 week prior to Baseline visit) and post-treatment (Week 36) biopsies. The biceps muscle was biopsied from one arm for confirmation of the absence or reduced levels of dystrophin prior to treatment initiation and from the other arm to assess for production of dystrophin post-treatment.Pre-Treatment (1 week prior to baseline), post-treatment (Week 36)False5FalseFalseFalseFalse NCT01480245114349GlaxoSmithKlineINDUSTRYOpen Label Study of GSK2402968 in Subjects With Duchenne Muscular Dystrophy2017-03TERMINATEDThe purpose of this study is to explore long-term safety, tolerability and efficacy of GSK2402968 in DMD subjects who previously participated in either DMD114117 or DMD114044.INTERVENTIONALInclusion Criteria: * Previous participation in either DMD114117 or DMD114044 * Continued use of glucocorticoids * Willing and able to comply with all protocol requirements * Able to give informed consent * French subjects: Eligible for inclusion only if either affiliated to or a beneficiary of a social security category. Exclusion Criteria: * Subject experienced a serious adverse event or who met safety stopping criteria that remains unresolved from DMD114117 or DMD114044, which in opinion of the investigator could have been attributable to study medication and is ongoing, * Use of anticoagulants, antithrombotics or antiplatelet agents, previous treatment with investigational drugs,except GSK2402968, within 1 month of the first administration of study medication, * Current or anticipated participation in any investigational clinical studies, * History of significant medical disorder which may confound the interpretation of either efficacy or safety data e.g. current history of renal or liver disease/impairment, history of inflammatory disease.MALE2024-10-18T00:00:002011-11-232011-11-232017-03-212011-11-282017-03-232011-092014-032014-03falseThe purpose of this study is to explore long-term safety, tolerability and efficacy of GSK2402968 in DMD subjects who previously participated in either DMD114117 or DMD114044.Muscular DystrophiesPHASE3233Differences between the 6MWD at baseline and Week 104104 weeksTimed Function tests104 weeksMuscle strength104 weeksNorth Star Ambulatory Assessment Scores104 weeksCreatine kinase Serum concentrations104 weeksPulmonary Function104 weeksPediatric Quality of Life Neuromuscular module104weeksClinician Global Impression of Improvement104 weeksHealth Utilities Index104 weeksFrequency of accidental falls during 6 Minute Walk Distance test104 weeksFunctional Outcomes Assessment104 weeksTime to major disease milestones104 weeksFalse5FalseFalseFalseFalse NCT025309054045-101Sarepta Therapeutics, Inc.INDUSTRYDose-Titration and Open-label Extension Study of SRP-4045 in Advanced Stage Duchenne Muscular Dystrophy (DMD) Patients2021-04COMPLETEDThis is a first-in-human dose-titration and open-label extension study to assess safety, tolerability, and pharmacokinetics of SRP-4045 in advanced-stage Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 45 skipping.INTERVENTIONALInclusion Criteria: * Genotypically confirmed DMD (amenable to exon 45 skipping). * Stable cardiac and pulmonary function. * Limited or no ambulation. * On a stable dose of oral corticosteroids for at least 24 weeks OR has not received corticosteroids for at least 24 weeks. Exclusion Criteria: * Current or previous treatment with the experimental agents SMT C1100 (BMN-195) or PRO045. * Other experimental treatment in the past 12 weeks. * If on cardiac medication, must be on a stable dose for the past 12 weeks. * Major surgery within the past 3 months. Other inclusion/exclusion criteria apply.MALE2024-10-18T00:00:002015-08-102015-08-192021-04-232015-08-212021-05-172015-10-082018-10-032018-10-03trueTrueFalseThis is a first-in-human dose-titration and open-label extension study to assess safety, tolerability, and pharmacokinetics of SRP-4045 in advanced-stage Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 45 skipping.Duchenne Muscular DystrophyPHASE112Number of Participants With Treatment Emergent Adverse Events (TEAEs)Adverse event (AE) was any untoward medical occurrence in a clinical trial participant, which does not necessarily have a causal relationship with the investigational drug. AEs also included abnormal physical examination findings (Physical examination were conducted per protocol and any clinically significant abnormal findings were recorded in medical history if pre-existing or addressed as an AE if new or worsening). TEAEs was defined as AEs that started, worsened, or became serious on or after the start of first infusion through 148 weeks. Number of participants with TEAEs were reported.Baseline up to Week 148Number of Participants With Potentially Clinically Significant (PCS) Laboratory Abnormalities Reported as TEAEsLaboratory parameters included serum chemistry (hepatic chemistry and renal chemistry), hematology, coagulation, and urinalysis. Number of participants with potentially clinically significant abnormal finding were reported as TEAEs. The Investigator determined whether abnormal assessment results were potentially clinically significant or not. Potentially clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to Week 148Number of Participants With Potentially Clinically Significant Abnormalities in Vital Signs Reported as TEAEsVital sign parameters included systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and body temperature. Number of participants with at least one potentially clinically significant abnormal vital signs findings were reported as TEAEs. The Investigator determined whether abnormal assessment results were potentially clinically significant or not. Potential clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.Baseline up to Week 148Number of Participants With Potentially Clinically Significant Abnormalities in Electrocardiogram (ECG) Reported as TEAEsTwelve-lead ECGs were performed at a consistent time of day throughout the study. Electrocardiograms were performed only after the participant was in the supine position, resting, and quiet for a minimum of 15 minutes. The ECG was manually reviewed and interpreted by medically qualified personnel. Number of participants with potentially clinically significant abnormalities in ECG reported as TEAEs were presented here. The Investigator determined whether abnormal assessment results were potentially clinically significant or not.Baseline up to Week 148Number of Participants With Potentially Clinically Significant Abnormalities in Echocardiograms (ECHO)Standard, 2-dimensional ECHOs were performed at a consistent time of day throughout the study.The ECHO was reviewed and interpreted by medically qualified personnel. Number of participants with potentially clinically significant abnormalities in ECHO were reported.Baseline up to Week 148Maximum Plasma Concentration (Cmax) of CasimersenMaximum Concentration (Cmax) of casimersen in plasma was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPTime to Reach Maximum Plasma Concentration (Tmax) of CasimersenTime to reach maximum plasma concentration (Tmax) of casimersen was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPArea Under Concentration-time Curve From Time of Dosing to the Last Measurable Concentration (AUClast) of Casimersen in PlasmaArea under the concentration-time curve from time zero to the last quantifiable concentration of casimersen in plasma were evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPArea Under Concentration-Time Curve From Time Zero Pre-dose to Twenty-Four Hours Post-dose (AUC0-24) of Casimersen in PlasmaArea under concentration-time curve from time zero pre-dose to twenty-four hours post-dos of casimersen in plasma were evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPArea Under the Concentration-Time Curve From Time Zero Extrapolated to the Infinity (AUCinf) of Casimersen in PlasmaArea under the concentration-time curve from time zero extrapolated to the infinity of casimersen in plasma was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPApparent Volume of Distribution at Steady State (Vss) of CasimersenVolume of distribution was defined as the theoretical volume in which the total amount of drug would need to be uniformly distributed to produce the desired plasma concentration of a drug. Apparent volume of distribution at steady state of casimersen was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPElimination Half-life (T1/2) of CasimersenT1/2 is the time measured for the plasma concentration of drug to decrease by one half. T1/2 of casimersen was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPTotal Clearance (CL) of CasimersenDrug clearance is a quantitative measure of the rate at which a drug substance is removed from the blood. CL of casimersen was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPMean Residence Time Extrapolated to Infinity (MRTinf) of CasimersenMRTinf = AUMCinf/AUCinf - T/2, where T was the infusion duration, and AUMCinf was the area under the first moment curve from time 0 extrapolated to infinite time, calculated using the linear/log trapezoidal method. MRTinf of casimersen was evaluated.Pre-infusion, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16, and 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 (for 30 mg/kg arm) in DBP and Week 60 (for 30 mg/kg arm) in OLEPDouble-Blind Period: Renal Clearance (CLR) of CasimersenRenal clearance was calculated using the partial AUC0-24 from the non-compartmental analysis in plasma and AE0-24. AUC0-24 was defined as area under the plasma concentration-time curve, from time 0 to 24 hours after completion of dosing. AE0-24 was defined as total cumulative amount excreted from 0 to 24 hours. Summarized data of all urine collection intervals are reported.0 to 4, 4 to 8, 8 to 12, and 12 to 24 hours post-dose at Weeks 1 (for 4 mg/kg ), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm), 7 and 12 (for 30 mg/kg arm) in double-blind periodFalse721TrueTrueFalseTrue NCT01890798117402GlaxoSmithKlineINDUSTRYDrisapersen Duchenne Muscular Dystrophy (DMD) Treatment Protocol2014-03WITHDRAWNThis is a single arm, open-label continued access protocol of drisapersen for the treatment of male subjects with Duchenne muscular dystrophy (DMD) having dystrophin mutations correctable by drisapersen-induced DMD Exon 51 skipping. The purpose of this continued access protocol is to offer pre-approval access to drisapersen for the treatment of subjects with DMD who previously participated in eligible drisapersen studies. The protocol will collect safety data required to assure subject safety and periodic efficacy data on muscle function.INTERVENTIONALInclusion Criteria: * Prior DMD114876 subjects: Subjects who completed both the 24 week double-blind treatment and 24 week post-treatment phases in study DMD114876, OR Subjects who withdrew from the treatment portion of study DMD114876 due to meeting laboratory safety stopping criteria may be eligible to enroll in the extension study if: the laboratory parameters that led to stopping have resolved; benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the GSK Medical Lead. * Prior DMD115501 subjects: * Active subjects who entered into open-label extension study DMD115501. Subjects are required to be withdrawn from DMD115501 to participate. * Prior DMD114044 Subjects: US citizens who completed study DMD114044 in another country and who want to return to the US to participate, upon agreement by a physician conducting this protocol, OR Unites States citizens who participated in DMD114044 but who had to withdraw from the study due to meeting laboratory safety stopping criteria may be eligible to enroll if: the laboratory parameters that led to stopping have resolved; benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the GSK Medical Lead and upon agreement of physician conducting this protocol * Prior DMD114349 Subjects: US citizens who participated in and completed study DMD114044 in another country and who entered into the ongoing open-label extension study DMD114349 in a country outside the US who wish to withdraw from DMD114349 and return to the US to participate in this protocol, upon agreement by a physician conducting this protocol. Subjects are required to withdraw from DMD114349 to participate in this protocol. * Baseline platelets of 150 x 109/Liters (L) or greater and no history of thrombocytopenia. * Continued use of glucocorticosteroids for a minimum of 60 days prior to protocol entry with a reasonable expectation that the subject will remain on steroids for the duration of the protocol. Changes to or cessation of glucocorticosteroids will be at the discretion of the physician conducting this protocol in consultation with the subject/parent. The GSK Medical Lead must be notified in a timely manner. * Willing and able to comply with all protocol requirements and procedures (with the exception of those assessments requiring a subject to be ambulant, for those subjects who have lost ambulation). * Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations). Exclusion Criteria: * Subject had a serious adverse experience or who met safety stopping criteria that remains unresolved from protocol DMD114876, which in the opinion of the physician conducting this protocol could have been attributable to study medication, and which is ongoing. Once resolved, subject may be eligible to enroll following consultation with the GlaxoSmithKline (GSK) Medical Lead. * Use of anticoagulants, antithrombotics or antiplatelet agents, or previous treatment with investigational drugs, except for drisapersen, within 28 days of the first administration of drisapersen.MALE2024-10-18T00:00:002013-06-272013-06-272014-03-202013-07-022014-03-242014-012014-012015-07falseThis is a single arm, open-label continued access protocol of drisapersen for the treatment of male subjects with Duchenne muscular dystrophy (DMD) having dystrophin mutations correctable by drisapersen-induced DMD Exon 51 skipping. The purpose of this continued access protocol is to offer pre-approval access to drisapersen for the treatment of subjects with DMD who previously participated in eligible drisapersen studies. The protocol will collect safety data required to assure subject safety and periodic efficacy data on muscle function.Muscular DystrophiesPHASE30Safety as assessed by the collection of adverse events (AEs)AEs will be collected from the start of Study Treatment and until 5 days post last-dose (at follow up).Baseline to Week 48Safety as assessed by laboratory parametersAbsolute values and changes over time of hematology, clinical chemistry, and urinalysisBaseline to Week 48Safety as assesses by electrocardiogram (ECG) intervalsBaseline to Week 48False5FalseFalseFalseFalse NCT06485661MS180/2024Ain Shams UniversityOTHEREffect of Captopril on GLS in Duchenne Myodystrophy2024-06RECRUITINGTo outline the intermediate term effect of prescribing Captopril as an add on therapy on Left ventricular functions as measured by Global longitudinal strain in patients with Duchenne myodystrophy (DMD)INTERVENTIONALInclusion Criteria: * Genetically confirmed Duchenne myodystrophy (DMD) patients with abnormal GLS \< -18% with minimum age of 6 years old. Exclusion Criteria: * Any patient who refuses to sign an informed consent. * Contraindication to ACEI: hypersensitivity - renal impairment - bilateral renal artery stenosis - aortic valve stenosis - hyperkalemia - hypotension. * Reduced ejection fraction below 50%.MALE2024-10-18T00:00:002024-06-272024-06-272024-07-132024-07-032024-07-162024-01-012024-09-302024-09-30trueFalseFalseTo outline the intermediate term effect of prescribing Captopril as an add on therapy on Left ventricular functions as measured by Global longitudinal strain in patients with Duchenne myodystrophy (DMD)Effect of DrugEARLY_PHASE120The impaired global longitudinal strain will change in echo in the number of participants with duchenne myodystrophyImpaired Global longitudinal strain will be changed in echo after 6 months of treatment with Captopril in patients with duchenne myodystrophy6 monthsFalse6FalseFalseFalseFalse NCT018237838948University Hospital, MontpellierOTHEREndomysial Fibrosis, Muscular Inflammatory Response and Calcium Homeostasis Dysfunction in Duchenne Muscular Dystrophy2020-02UNKNOWNDuchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence. Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1). Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD. The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.INTERVENTIONALInclusion Criteria: * Boy between 2 to 15 years old. * Lack of any infectious disease in the last week before the study. * Consent form signed by parents. Inclusion Criteria for DMD infant * Clinical suspicion of Duchenne Muscular Dystrophy Inclusion Criteria for Control healthy Infant * Lack of any antecedent of congenital cardiac, pulmonary or muscular disease including DMD. Exclusion Criteria: * Subjects who are unable or unwilling to tolerate study constraints * Parents of the subject unable or unwilling to undergo informed consent * Subject with no rights from the national health insurance programmeALL2024-10-18T00:00:002013-03-222013-03-292020-02-062013-04-042020-02-072012-11-072021-012021-01falseDuchenne muscular dystrophy (DMD) is the most common and devastating form of muscular dystrophy, caused by an X-chromosome gene mutation resulting in the absence of the protein dystrophin. Gene therapy by exon skipping or stop codon read-through and cell therapy are at the stage of clinical assays with very promising results. Nevertheless, they will not allow a complete cure of DMD patients and they will concern only specific types of mutations. It is therefore crucial to develop other therapeutic strategies related to the natural history of the disease and targeted not on the dystrophin itself, but on the consequences of its absence. Another crucial pathophysiological pathway in DMD is muscle cell calcium homeostasis, particularly via the ryanodine recepteur (RyR1). Our study focus on the relationship between endomysial fibrosis, abnormal inflammation response and calcium homeostasis dysfunction which are not entirely established in DMD. The identification of the biological mechanisms that play a role in the severity of the phenotype, particularly endomysial fibrosis, should allow the development of targeted pharmacotherapy as a complementary strategy for the future treatment of DMD.Duchenne Muscular Distrophy (DMD)NA50Quantification of endomysial fibrosis1 day (biopsy day)quantification of the muscle inflammation* Measure of the protein (Immunofluorescence and western blot) and mRNA (qRT-PCR) expression of the following markers of muscular inflammation response * Presence and quantification of cellular partners of inflammation and muscle regeneration (M1 (CD68/KP1) and M2 (CD206) macrophages, quiescent and activated satellite cells (CD56/NCAM) and endothelial cells (CD31/PECAM-1)).1 day (biopsy day)True215FalseFalseFalseFalse NCT00720161ML3830Universitaire Ziekenhuizen KU LeuvenOTHERMetformin in Children With Motor Deficit2011-09COMPLETEDObesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an increasingly sedentary lifestyle, a decrease in physical fitness and an increase in body fat (1-3). Obesity, in turn, can be associated with a decrease in physical fitness and a further increase in body fat. In this study we want to evaluate the effect of an insulin-sensitizer, metformin, in a group of overweight/obese patients with neurological or neuromuscular diseases. Metformin is a well-established insulin sensitizer.INTERVENTIONALInclusion Criteria: * Patients with neurogenic or myogenic motor deficit, clinically obese or who had excessively gained weight over the last year. Exclusion Criteria: * Exclusion criteria were known type 1 or type 2 diabetes mellitus and contraindications to metformin therapy.ALL2024-10-18T00:00:002008-07-182008-07-212024-06-132008-07-222024-06-172006-112011-072011-07trueObesity with insulin resistance in the paediatric population provides an increasing challenge. Children with neurological or neuromuscular diseases are even more prone to obesity: their locomotor impairment leads to an increasingly sedentary lifestyle, a decrease in physical fitness and an increase in body fat (1-3). Obesity, in turn, can be associated with a decrease in physical fitness and a further increase in body fat. In this study we want to evaluate the effect of an insulin-sensitizer, metformin, in a group of overweight/obese patients with neurological or neuromuscular diseases. Metformin is a well-established insulin sensitizer.Spina Bifida;Neuromuscular DiseasesNA42insulin resistancechanges in insulin, fasting glucose and insulin resistance after 6 months Metformine versus 6 months placebo12 monthsfatchanges in cholesterol and triglycerides after 6 months Metformine versus 6 months placebo12 monthsFalse835FalseFalseFalseFalse NCT05524883DYNE251-DMD-201Dyne TherapeuticsINDUSTRYSafety, Tolerability, Pharmacodynamic, Efficacy, and Pharmacokinetic Study of DYNE-251 in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping2024-09RECRUITINGThe primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. The study consists of 3 periods: a multiple-ascending dose (MAD) / placebo-controlled period (24 weeks), an open-label period (24 weeks) and a long-term extension period (96 weeks).INTERVENTIONALInclusion Criteria: * Age 4 to 16 years inclusive, at the time of informed consent/assent. * Male with a confirmed diagnosis of DMD and with a mutation in the dystrophin gene characterized by exon deletion amenable to exon 51 skipping. * Upper extremity muscle group that is amenable to muscle biopsy. * Brooke Upper Extremity Scale score of 1 or 2. * Ambulatory or non-ambulatory. A non-ambulatory participant must have been non-ambulatory for \<2 years before enrolment. * Receiving a stable dosage of glucocorticoids for at least 12 weeks prior to the start of study drug administration, with the expectation of maintaining a stable dose during the Placebo-Controlled and Open-Label Periods of the study (unless dose adjustment is required by weight change). * Left ventricular ejection fraction of ≥50% by echocardiogram or ≥55% by cardiac magnetic resonance imaging (MRI). Exclusion Criteria: * Uncontrolled clinical symptoms and signs of congestive heart failure (CHF). * Any change in prophylaxis/treatment for CHF within 3 months prior to the start of study treatment. * History of major surgical procedure within 12 weeks prior to the start of study drug administration or an expectation of a major surgical procedure during the study. * Requirement of daytime ventilator assistance. * Percent predicted FVC \<40 % (applies only for participants who are age ≥7 years). * Receipt of eteplirsen, or alternative exon-skipping/dystrophin-modifying therapy, within 12 weeks of randomization. * Receipt of non-exon skipping investigational drug within 4 months before the start of study drug administration. * Receipt of gene therapy at any time. Other inclusion and exclusion criteria may apply.MALE2024-10-18T00:00:002022-08-302022-08-302024-09-032022-09-012024-09-192022-08-122026-112026-11falseTrueFalseThe primary purpose of this study is to evaluate the safety, tolerability, and dystrophin protein levels in muscle tissue following multiple intravenous (IV) doses of DYNE-251 in participants with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. The study consists of 3 periods: a multiple-ascending dose (MAD) / placebo-controlled period (24 weeks), an open-label period (24 weeks) and a long-term extension period (96 weeks).Duchenne Muscular Dystrophy (DMD)PHASE1PHASE288Number of Participants With Treatment-Emergent Adverse Events (TEAEs)Through study completion, up to Week 145Change From Baseline in Dystrophin Protein Levels in Muscle Tissue at Week 25Baseline, Week 25Change From Baseline in Muscle Tissue Exon 51 Skipping Levels at Week 25 For Participants Dosed at Q4W or Q8W Interval With a Second Biopsy Performed at Week 25Baseline, Week 25Change From Baseline in Muscle Tissue Percent Dystrophin-Positive Fiber (PDPF) at Week 25 For Participants Dosed at Q4W or Q8W Interval With a Second Biopsy Performed at Week 25Baseline, Week 25Change From Baseline in Blood Creatine Kinase (CK) Levels up to Week 145 For Participants Dosed at Q4W or Q8W Interval With a Second Biopsy Performed at Week 25Baseline, up to Week 145Change From Baseline in Dystrophin Protein Level in Muscle Tissue as Determined by Western Blot at Week 49 For Participants Dosed at Q8W Interval With a Second Biopsy Performed at Week 49Baseline, Week 49Change From Baseline in Muscle Tissue Exon 51 Skipping Levels at Week 49 For Participants Dosed at Q8W Interval With a Second Biopsy Performed at Week 49Baseline, Week 49Change From Baseline in Muscle Tissue PDPF at Week 49 For Participants Dosed at Q8W Interval With a Second Biopsy Performed at Week 49Baseline, Week 49Change From Baseline in Blood CK Levels up to Week 145 For Participants Dosed at Q8W Interval With a Second Biopsy Performed at Week 49Baseline, up to Week 145Change From Baseline in North Star Ambulatory Assessment (NSAA) Total Score in Ambulatory Participants up to Week 145The NSAA is a 17-item functional scale used to measure functional motor abilities in ambulant participants with DMD and monitor progression of the disease and treatment effects in each of the items. The items are graded on a 3-point scale: 0=unable to achieve independently, 1=modified method but achieves goal with no physical assistance, and 2=normal, no obvious modification of activity. Total score range is 0 to 34.Baseline, up to Week 145Change From Baseline in Time to Rise From Floor in Ambulatory Participants up to Week 145Baseline, up to Week 145Change From Baseline in 10-Meter Run/Walk (10MRW) Time in Ambulatory Participants up to Week 145Baseline, up to Week 145Change From Baseline in Performance Upper Limb (PUL) Scale Version 2.0 Score up to Week 145The PUL scale is a validated tool specifically designed for assessing upper limb function in ambulant and non-ambulant individuals with DMD. It includes an entry item to define the broad starting functional level and 22 items subdivided into 3 areas indicative of upper limb strength as, shoulder level, midlevel, and distal level. The global score is a combination of the 3 areas and ranges from 0 to 42. Lower scores indicate higher disability.Baseline, up to Week 145Change From Baseline in Percent Predicted Forced Vital Capacity (FVC) up to Week 145Baseline, up to Week 145Change From Baseline in Stride Velocity 95th Centile (SV95C) in Ambulatory Participants up to Week 145Baseline, up to Week 145Maximum Observed Plasma Drug Concentration of DYNE-251 (Cmax)Through study completion, up to Week 145Time to Maximum Observed Plasma Drug Concentration of DYNE-251 (tmax)Through study completion, up to Week 145Area Under the Plasma Drug Concentration-Time Curve From Time 0 to the Last Quantifiable Concentration of DYNE-251 in Plasma (AUC0-tlast)Through study completion, up to Week 145Area Under the Plasma Drug Concentration Versus Time Curve From Time 0 (Dosing) Extrapolated to Time Infinity of DYNE-251 (AUC∞)Through study completion, up to Week 145Apparent Terminal Phase Elimination Rate Constant of DYNE-251 in Plasma (λz)Through study completion, up to Week 145Apparent Terminal Elimination Half-Life of DYNE-251 in Plasma (t½)Through study completion, up to Week 145Total Body Clearance (CL) of DYNE-251Through study completion, up to Week 145Volume of Distribution at the Terminal Phase of DYNE-251 in Plasma (Vz)Through study completion, up to Week 145Volume of Distribution at Steady State of DYNE-251 in Plasma (Vss)Through study completion, up to Week 145Tissue Phosphorodiamidate Morpholino Oligomer (PMO) Concentration of DYNE-251 in Muscle TissueThrough study completion, up to Week 145Percentage of Participants With Antidrug Antibodies (ADAs)Through study completion, up to Week 145False416FalseFalseTrueTrue NCT03642145PTCEMF-GD-003PTC TherapeuticsINDUSTRYA Study of Deflazacort (Emflaza®) in Participants With Duchenne Muscular Dystrophy (DMD)2019-05WITHDRAWNThe primary objective of this study is to evaluate the safety of a 0.9 milligrams per kilogram (mg/kg) and 0.45 mg/kg daily dose of deflazacort with a comparable natural history control group after 52 weeks of treatment in males with DMD aged greater than or equal to (\>=) 2 to lesser than (\<) 5 years. The study will comprise of 2 periods (Period 1: 52-week safety and pharmacokinetics \[PK\], and Period 2: 52-week extension). Participants will be randomized in a 1:1 ratio to one of 2 treatment arms: 0.9 mg/kg deflazacort, and 0.45 mg/kg of deflazacort. A historic control group (which should match the study population as closely as possible) will be used as a comparator to characterize the safety and tolerability of deflazacort.INTERVENTIONALInclusion Criteria: * In the opinion of the Investigator, the participant and parent(s)/caregiver are capable of complying with protocol requirements. * The participant's legally acceptable representative signs and dates a written informed consent form and any required privacy authorization prior to the initiation of any study procedures. * The participant must have a diagnosis of DMD defined by genetic or biopsy confirmation of DMD or have documented, increased serum creatine kinase more than 40 times the upper limit of normal (ULN) and shown phenotypic signs of DMD. * The participant weighs between 11 kilograms (kg) and 50 kg at screening visit. * Ability to comply with scheduled visits, oral drug administration, and study procedures. * The participant is current on childhood vaccinations according to the Center for Disease Control (CDC) recommended immunizations for children from birth through 6 years old. Note: The investigator should discuss timing of receipt of the varicella vaccine with the caregiver prior to initiation of chronic steroid treatment. Administration of live or live attenuated vaccines is not recommended in participants receiving immunosuppressive doses of corticosteroids. Participants whose caregivers decline vaccinations as a matter of personal belief may be included. * Baseline health is judged to be stable based on medical history, physical examination, laboratory profiles, and vital signs at screening, as deemed by the Investigator. * The participant is able to ingest the oral tablets either whole or crushed. Exclusion Criteria: * The participant has received 4 weeks or more of continuous corticosteroid therapy within 3 months of study screening visit. * The participant has, in the judgment of the Investigator, clinically significant abnormal clinical laboratory parameters at screening or baseline that may affect safety. * The participant has, in the judgment of the Investigator, a history or current medical condition that could affect safety including, but not limited to: 1. Major renal or hepatic impairment 2. Immunosuppression or other contraindications for corticosteroid treatment 3. History of chronic systemic fungal or viral infections 4. Diabetes mellitus or significant glucose intolerance 5. Idiopathic hypercalciuria 6. Symptomatic cardiomyopathy Note: Elective surgeries can be discussed with medical monitor. * The participant has a history of hypersensitivity or allergic reaction to steroids or their formulations including, but not limited to lactose, sucrose, etc. * The participant has received any drug, including prescription and non-prescription medications, and herbal remedies known to be significant inhibitors and/or inducers of cytochrome P3A4 (CYP3A4) enzymes and/or P glycoprotein (P-gp) 14 days prior to the first dose of study drug. * The participant has an indication that requires long-term use of strong CYP3A4 inhibitors and/or inducers that would interfere with the pharmacokinetics of deflazacort. * The participant has received any investigational compound and/or has participated in another clinical study within 30 days prior to study treatment with the exception of observational cohort studies or non-interventional studies.MALE2024-10-18T00:00:002018-07-102018-08-202019-06-202018-08-222019-06-212018-10-312021-07-312021-07-31falseTrueFalseThe primary objective of this study is to evaluate the safety of a 0.9 milligrams per kilogram (mg/kg) and 0.45 mg/kg daily dose of deflazacort with a comparable natural history control group after 52 weeks of treatment in males with DMD aged greater than or equal to (\>=) 2 to lesser than (\<) 5 years. The study will comprise of 2 periods (Period 1: 52-week safety and pharmacokinetics \[PK\], and Period 2: 52-week extension). Participants will be randomized in a 1:1 ratio to one of 2 treatment arms: 0.9 mg/kg deflazacort, and 0.45 mg/kg of deflazacort. A historic control group (which should match the study population as closely as possible) will be used as a comparator to characterize the safety and tolerability of deflazacort.Duchenne Muscular DystrophyPHASE30Period 1 and 2: Number of Participants With Treatment Emergent Adverse Events (TEAEs)52 weeksPeriod 1 and 2: Change From Baseline in Vital Signs and Electrocardiogram (ECG) at Week 52Baseline, Week 52Period 1 and 2: Change From Baseline in the Child Behavior Checklist Score at Week 52Baseline, Week 52Period 1 and 2: Change From Baseline in the Normalized Measure of Bone Density Change (Z-score) for the Dual Energy X-ray Absorptiometry (DEXA) at Week 52Baseline, Week 52Period 1 and 2: Mean Change From Baseline in Height at Week 52Baseline, Week 52Period 1 and 2: Mean Change From Baseline in Body Weight at Week 52Baseline, Week 52Period 1 and 2: Mean Change From Baseline in Height Percentile for Age at Week 52Baseline, Week 52Period 1 and 2: Number of Participants With Clinically Significant Laboratory Tests52 weeksPeriod 1: Peak Plasma Concentration (Cmax) of DeflazacortPre-dose, 0.25, 2, 4, and 6 hours post-dose at Baseline (Week 1) and Week 13Period 1: Area Under the Curve (AUC) of DeflazacortPre-dose, 0.25, 2, 4, and 6 hours post-dose at Baseline (Week 1) and Week 13Period 1: Volume of Distribution (Vd) of DeflazacortPre-dose, 0.25, 2, 4, and 6 hours post-dose at Baseline (Week 1) and Week 13Period 1: Clearance (CL) of DeflazacortPre-dose, 0.25, 2, 4, and 6 hours post-dose at Baseline (Week 1) and Week 13False24TrueFalseFalseFalse NCT0300229816796513.1.0000.0065University of Sao PauloOTHERVirtual Reality in Individuals With Duchenne Muscular Dystrophy2017-04COMPLETEDWith the growing accessibility of computer-assisted technology, one option for rehabilitation programs for individuals with Duchenne muscular dystrophy (DMD) is the use of virtual reality environments to enhance motor practice. Thus, it is important to examine whether performance improvements in the virtual environment generalize to the natural environment. To examine this issue, we had 64 individuals, 32 of which were individuals with DMD and 32 were typically developing individuals. The groups practiced two coincidence timing tasks. In the more tangible button-press task, the individuals were required to 'intercept' a falling virtual object at the moment it reached the interception point by pressing a key on the computer. In the more abstract task, they were instructed to 'intercept' the virtual object by making a hand movement in a virtual environment using a webcam.INTERVENTIONALInclusion Criteria: * medical diagnosis of Duchenne Muscular Dystrophy confirmed by molecular method and/or protein expression in skeletal muscle; * signing of an informed consent form from the individual or person legally responsible. Exclusion Criteria: * presence of associated comorbidities; * inability in comprehension of the task.MALE2024-10-18T00:00:002016-12-192016-12-202017-04-082016-12-232017-04-112016-012016-082016-10falseWith the growing accessibility of computer-assisted technology, one option for rehabilitation programs for individuals with Duchenne muscular dystrophy (DMD) is the use of virtual reality environments to enhance motor practice. Thus, it is important to examine whether performance improvements in the virtual environment generalize to the natural environment. To examine this issue, we had 64 individuals, 32 of which were individuals with DMD and 32 were typically developing individuals. The groups practiced two coincidence timing tasks. In the more tangible button-press task, the individuals were required to 'intercept' a falling virtual object at the moment it reached the interception point by pressing a key on the computer. In the more abstract task, they were instructed to 'intercept' the virtual object by making a hand movement in a virtual environment using a webcam.Duchenne Muscular DystrophyNA64Motor Learning test by using a timing coincident task in virtual reality1 dayTrue1232FalseFalseFalseFalse NCT01645098IRB11-00532Nationwide Children's HospitalOTHERSedation During Muscle Biopsy in Patients With Duchenne Muscular Dystrophy2015-02COMPLETEDThis is an interventional study on Duchenne muscular dystrophy patients who will be receiving sedation for a muscle biopsy as part of another study.INTERVENTIONALInclusion Criteria: * Patients undergoing a muscle biopsy for IRB11-00203.MALE2024-10-18T00:00:002012-06-082012-07-192015-02-252012-07-202015-02-262011-082013-042013-06falseThis is an interventional study on Duchenne muscular dystrophy patients who will be receiving sedation for a muscle biopsy as part of another study.Duchenne Muscular DystrophyNA53Time to Sedation Score of 3-4The depth of sedation was judged using the University of Michigan Sedation Scale (UMSS). The score ranges from zero, awake and alert, to four, unarousable. A score of three, deeply sedated, or more was considered to be an appropriate level of sedation for the procedure.Immediately prior to incisionHeart Rate Change After Dexmedetomidine Loading DoseDifference in heart rate from baseline to immediately following infusion of dexmedetomidine loading dose.Baseline to immediately post dexmedetomidine infusion.Mean Arterial Pressure (MAP) Change After Dexmedetomidine Loading DoseChange in MAP from baseline measurement to immediately post dexmedetomidine infusion measured via blood pressure cuff.Baseline to immediately post dexmedetomidine infusion.Oxygen Saturation Change After Dexmedetomidine Loading DoseChange in oxygen saturation from baseline measurement to immediately post dexmedetomidine infusion.Baseline to immediately post dexmedetomidine infusion.EtCO2 Change After Dexmedetomidine Loading DoseChange in end-tidal carbon dioxide from baseline measurement to immediately post dexmedetomidine infusion.Baseline to immediately post dexmedetomidine infusion.FalseFalseFalseFalseFalse NCT05641805GO-22/1011Muş Alparlan UniversityOTHERPhysical Activity Level and Cognitive Functions in Children With Duchenne Muscular Dystrophy2023-02RECRUITINGAlthough there are studies showing that the effect on motor performance over time in children with DMD is associated with a decrease in the level of physical activity, no publication has been found that directly examines the relationship between cognitive functions and physical activity level. Therefore, the aim of our study is to investigate the relationship between physical activity level and cognitive functions in children with DMD.OBSERVATIONALInclusion Criteria: * Children who diagnosed with Duchenne Muscular Dystrophy (DMD), between the ages of 8-14, to have cognitive functions at a level to understand and apply test directives, Level 1-5 according to Brooke lower extremity functional classification will be included. Exclusion Criteria: * Children who have any chronic or systemic disease in addition to DMD, being above level 5 according to the Brooke lower extremity functional classification, have a cooperation problem, have had any lower/upper extremity injury and/or surgery in the last 6 months and children who did not give consent will be excluded.ALL2024-10-18T00:00:002022-11-292022-11-292023-02-082022-12-082023-02-092022-11-292023-06-012023-11-01falseFalseFalseAlthough there are studies showing that the effect on motor performance over time in children with DMD is associated with a decrease in the level of physical activity, no publication has been found that directly examines the relationship between cognitive functions and physical activity level. Therefore, the aim of our study is to investigate the relationship between physical activity level and cognitive functions in children with DMD.Duchenne Muscular Dystrophy40PAQ-CPhysical activity level10 to 15 minutesMoCACognitive function10 to 15 minutesModified Mini Mental State ExaminationCognitive function10 to 15 minutesPBSBalance responses of participants10 to 15 minutesBMIBody mass index to evaluate weight status of participants1 minuteFalse814FalseFalseFalseFalse NCT02034305PRO11100704University of PittsburghOTHERPeak Cough Flow and Cough Clearance in Patients With Muscular Dystrophy2021-01COMPLETEDThis study is to determine whether physiologic measures (peak cough flow, measures of respiratory muscle strength including MIP, MEP ,SNIP, and spirometry) can predict spontaneous cough clearance (as measured by a nuclear medicine study) in children with neuromuscular disease. It will also determine whether airway clearance is augmented by high frequency chest wall oscillation.OBSERVATIONALInclusion Criteria: * Age 6-21; able to cooperate with study procedures * Duchenne Muscular Dystrophy OR Becker Muscular Dystrophy Exclusion Criteria: * Need for mechanical ventilation during the day * Recent (within 2 weeks) lower respiratory tract infectionMALE2024-10-18T00:00:002014-01-092014-01-102024-02-022014-01-132024-02-052014-012021-01-012021-01-01trueThis study is to determine whether physiologic measures (peak cough flow, measures of respiratory muscle strength including MIP, MEP ,SNIP, and spirometry) can predict spontaneous cough clearance (as measured by a nuclear medicine study) in children with neuromuscular disease. It will also determine whether airway clearance is augmented by high frequency chest wall oscillation.Duchenne Muscular Dystrophy7Spontaneous cough clearanceAssessed at multiple time points over 30 minutesFalse621FalseFalseFalseFalse NCT025712052015-003195-68Newcastle-upon-Tyne Hospitals NHS TrustOTHERTestosterone Therapy for Pubertal Delay in Duchenne Muscular Dystrophy2021-04COMPLETED"Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne Muscular Dystrophy" is a single centre observational study that aims to follow the progress of 20 adolescents with Duchenne Muscular Dystrophy (DMD) and delayed puberty who are treated by the Newcastle muscle team, as they are treated with testosterone to induce puberty. The participants will all be treated with the standard stepwise regimen of testosterone injections every 4 weeks and data will be collected to help determine the effectiveness and tolerability of the current treatment regimen. The investigators will use the data to explore the effect of testosterone on pubertal development, growth, muscle strength and function, bone mineral density and body composition and characterise any side effects. Semi-structured interviews will also be carried out to learn the boys' views on the tolerability of the regimen. The study will last up to a maximum of 27 months in total for each participant, but may be less if they are happy with pubertal development before this time. It is important to do this study because from the investigator's limited experience in this group, testosterone treatment seems to be well liked and tolerated but the best treatment regimen to use remains unknown and there is no current consensus. It is not currently part of the standard of care in DMD but it would be important to include it if this study can show that it is an effective treatment for pubertal delay.OBSERVATIONALInclusion Criteria: * A molecular diagnosis of Duchenne Muscular Dystrophy. * Males aged between 12 and 17 years of age at time of first dosing * Prepubertal (Tanner stage 1, testicular volume \<4 mls, initial testosterone level of \<2.0 nmol/l) * Subjects are receiving the standard of care for DMD as recommended by the NorthStar UK and TREAT-NMD guidelines * Patients are capable of sitting upright in a wheelchair for at least an hour * Patients have stable respiratory function. Artificial ventilation with either Bipap/continuous positive airways pressure (CPAP) or tracheostomy is not a contraindication to the study. * Informed consent/assent signed by the patient (or parent/guardian if under 16 years of age) Exclusion Criteria: * Severe learning difficulties that would preclude them from cooperating with examination. * Anticipated surgery during the study period. * Symptomatic cardiac failure. * Participants/families who may have emotional or psychological problems if recruited to a study * Hypersensitivity to the active substance or to any of the excipients, including arachis oil or derivatives (including hypersensitivity and allergy to peanuts or soya.) * Any contra-indication to receiving an intramuscular injection * Any additional chronic disease that affects androgen production * Anti-coagulant therapy * If participation in the study is not recommended in the opinion of the investigatorsMALE2024-10-18T00:00:002015-08-242015-10-072021-04-122015-10-082021-04-132015-112019-022019-03true"Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne Muscular Dystrophy" is a single centre observational study that aims to follow the progress of 20 adolescents with Duchenne Muscular Dystrophy (DMD) and delayed puberty who are treated by the Newcastle muscle team, as they are treated with testosterone to induce puberty. The participants will all be treated with the standard stepwise regimen of testosterone injections every 4 weeks and data will be collected to help determine the effectiveness and tolerability of the current treatment regimen. The investigators will use the data to explore the effect of testosterone on pubertal development, growth, muscle strength and function, bone mineral density and body composition and characterise any side effects. Semi-structured interviews will also be carried out to learn the boys' views on the tolerability of the regimen. The study will last up to a maximum of 27 months in total for each participant, but may be less if they are happy with pubertal development before this time. It is important to do this study because from the investigator's limited experience in this group, testosterone treatment seems to be well liked and tolerated but the best treatment regimen to use remains unknown and there is no current consensus. It is not currently part of the standard of care in DMD but it would be important to include it if this study can show that it is an effective treatment for pubertal delay.Duchenne Muscular Dystrophy15Total score in the Treatment Satisfaction Questionnaire for Medication (TSQM)2 yearsSubject's reported effectiveness of testosterone therapy as assessed by semi-structured interviews pre and post treatment2 yearsTotal score in Northstar Ambulatory Assessment or Performance of the Upper Limb if non-ambulant2 yearsZ-score from Bone mineral adjusted density of the lumbar spine and total body (minus head) using Dual Xray Absorptiometry (DXA)2 yearsPercentage of body mass assessed by DXA2 yearsOsteocalcin level, measured by blood test2 yearsP1NP level, measured by blood test2 yearsPercentage fat fraction as assessed by muscle Magnetic Resonance Imaging (MRI) of upper and lower limbs2 yearsPubertal staging assessed using Tanner staging and testicular volume2 yearsBone age as assessed by wrist and hand X-Ray2 yearsHormonal assessment of pubertal staging using testosterone level2 yearsForced vital capacity, measured by spirometry2 yearsCardiac function, assessed by Electrocardiogram (ECG) and echo2 yearsFalse1217FalseFalseFalseFalse NCT02851797EPYDIS (DSC/14/2357/48)ItalfarmacoINDUSTRYClinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy2023-01COMPLETEDPrimary Objective The primary objective of the study was to establish the effects of givinostat versus placebo administered chronically over 18 months to slow disease progression in ambulant DMD subjects. Secondary Objectives The secondary objectives of this study were: * To assess the safety and tolerability of givinostat versus placebo administered chronically in DMD subjects * To evaluate the PK profile of givinostat administered chronically in DMD subjects * To evaluate the impact on quality of life (QoL) and activities of daily living of givinostat versus placebo administered chronically.INTERVENTIONALInclusion Criteria: 1. Are an ambulant male aged ≥6 years at randomisation with DMD characteristic clinical symptoms or signs (e.g., proximal muscle weakness, Gowers' maneuver, elevated serum creatinine kinase level) already present at screening; 2. Have DMD diagnosis confirmed by genetic testing; 3. Are able to give informed assent and/or consent in writing signed by the subject and/or parent/legal guardian (according to local regulations); 4. Are able to complete 2 Four Stairs Climb test (4SC) screening assessments; the results of these tests must be within ±1 second of each other; 5. Have the mean of 2 screening 4SC assessments ≤8 seconds; 6. Have time to rise from floor between ≥3 and \<10 seconds at screening 7. Have manual muscle testing (MMT) of quadriceps at screening Grade ≥- 3; 8. Have used systemic corticosteroids for a minimum of 6 months immediately prior to the start of study treatment, with no significant change in corticosteroids type or dosage or dosing regimen (excluding changes related to body weight change) for a minimum of 6 months immediately prior to start of study treatment and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study. 9. Subjects must be willing to use adequate contraception. Exclusion Criteria: 1. Have exposure to another investigational drug within 3 months prior to the start of study treatment; 2. Have exposure to idebenone within 3 months prior to the start of study treatment; 3. Have exposure to any dystrophin restoration product (e.g., Ataluren, Exon skipping) within 6 months prior to the start of study treatment; 4. Use of any pharmacologic treatment, other than corticosteroids, that might have had an effect on muscle strength or function within 3 months prior to the start of study treatment (e.g., growth hormone); Vitamin D, calcium, and any other supplements will be allowed as long as their intake has been stable for 3 months prior to the start of study treatment; Testosterone will also be allowed if it is used as a replacement therapy for the treatment of delayed puberty, and testosterone dose and regimen have been stable for at least 6 months and circulating testosterone levels are within the normal ranges for the subject's age; 5. Have surgery that might have an effect on muscle strength or function within 3 months before study entry or planned surgery at any time during the study; 6. Loss of ≥30 degrees of plantar flexion from the normal range of movement at the ankle joint due to contracture (i.e. fixed loss of more than 10 degrees of plantar flexion from plantigrade, assuming normal range of dorsiflexion of 20 degrees; 7. Change in contracture treatment such as serial casting, contracture control devices, night splints, stretching exercises (passive, active, self) within 3 months prior to enrollment, or expected need for such intervention during the study; 8. Have presence of other clinically significant disease, which, in the Investigator's opinion, could adversely affect the safety of the subject, making it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results; 9. Have a diagnosis of other uncontrolled neurological diseases or presence of relevant uncontrolled somatic disorders that are not related to DMD; 10. Have platelets count at screening \< Lower Limit of Normal (LLN); 11. Have symptomatic cardiomyopathy or heart failure (New York Heart Association Class III or IV) or left ventricular ejection fraction \<50% at screening; 12. Have a current or history of liver disease or impairment; 13. Have inadequate renal function, as defined by serum Cystatin C \>2 x the upper limit of normal (ULN); 14. Have Triglycerides \> 300 mg/dL (3.42 mmol/L) in fasting condition at screening visit; 15. Have a positive test for hepatitis B surface antigen, hepatitis C antibody, or human immunodeficiency virus at screening15. 16. Have a baseline QTcF \>450 msec, or history of additional risk factors for torsades de pointes (e.g., heart failure, hypokalemia, or family history of long QT syndrome); 17. Have a psychiatric illness/social situations rendering the potential subject unable to understand and comply with the muscle function tests and/or with the study protocol procedures; 18. Have any hypersensitivity to the components of study medication; 19. Have a sorbitol intolerance or sorbitol malabsorption, or have the hereditary form of fructose intolerance. 20. Have contraindications to MRI or MRS (e.g., claustrophobia, metal implants, or seizure disorder). At the discretion of the Investigator, subjects not meeting inclusion/exclusion criteria may be re-screened twice with an interval of at least 3 months between assessments.MALE2024-10-18T00:00:002016-07-272016-07-282023-01-092016-08-022023-02-022017-06-062022-02-222022-02-22trueTrueFalsePrimary Objective The primary objective of the study was to establish the effects of givinostat versus placebo administered chronically over 18 months to slow disease progression in ambulant DMD subjects. Secondary Objectives The secondary objectives of this study were: * To assess the safety and tolerability of givinostat versus placebo administered chronically in DMD subjects * To evaluate the PK profile of givinostat administered chronically in DMD subjects * To evaluate the impact on quality of life (QoL) and activities of daily living of givinostat versus placebo administered chronically.Duchenne Muscular DystrophyPHASE3179Mean Change From Baseline in 4 Standard Stairs (4SC) Climb After 18 Months of TreatmentThe time (in seconds) to climb 4 standard-sized stairs is a TFT that represents stair-climbing ability. The test was evaluated by qualified functional evaluators (ie, physiotherapists) who were different from the site personnel who reviewed subjects' safety results. The test was performed in a standardised manner described in a specific site manual. Baseline 4SC was the measurement taken at the randomization assessment, unless this was missing, in which case baseline was taken as the last non missing value recorded prior to or on the date of first study treatment. The shorter the time, the better the outcome.Baseline and 18 monthsMean Change From Baseline in Time to Rise From Floor After 18 Months of TreatmentAn analysis of time (in seconds) to rise from the floor by change from baseline at 18 months is presented for the Target Population in the ITT analysis set. The shorter the time, the better the outcome.Baseline and 18 monthsMean Change From Baseline in the Six-minute Walking Test (6MWT) After 18 Months of TreatmentThis test measures the distance that a patient can quickly walk on a flat, hard surface in a period of 6 minutes. The 6-Minute Walk Test is a useful measure of functional capacity targeted at people with at least moderately severe impairment. A modified version of the 6MWT recommended by American Thoracic Society (2002) for use in adults was performed. The longer the walked distance the better the outcome.Baseline and 18 monthsMean Change From Baseline in Total North Star Ambulatory Assessment (NSAA) Score After 18 Months of TreatmentThe total North Star Ambulatory Assessment (NSAA) is a 17-item rating scale that is used to measure functional motor abilities in ambulant children with Duchenne Muscular Dystrophy (DMD). It is usually used to monitor the progression of the disease and treatment effects. The 17 items of the NSAA, ranging from standing to running 10 meters, were graded using the standard score card with each assessment rated as 0 - unable to achieve independently, 1 - modified method but achieves goal independent of physical assistance from another, or 2 - normal with no obvious modification of activity. This scale is ordinal with 0 as the minimum score (indicating full disfunctionality, i.e. the worst outcome) and with 34 as the maximum score indicating fully-independent function (the best outcome).Baseline and 18 monthsCumulative Loss of Function on the NSAASubject cumulative number of failures across all postbaseline visits was the endpoint of interest for analysis. For each subject at each postbaseline visit, failure to perform each of the 17 items of the NSAA was assessed, where "failure" was defined as a score transition from 2 or 1 at baseline to 0 at the respective visit. The total number of failed items for the visit was calculated (maximum of 17 failed items per visit per subject). The subject's cumulative number of failures across all visits was the sum of the total failures at each postbaseline visit.over 18 monthsMean Change From Baseline of Muscle Strength Normalized OvertimeThe mean change of muscle strength normalized was evaluated by knee extension and elbow flexion normalized by subject weight, both measured by hand-held myometry (HHM).Baseline and 18 monthsMean Change From Baseline in Vastus Lateralis Muscle Fat Fraction (VL MFF) at 18 MonthsVastus lateralis muscle fat fraction (VL MFF) was expressed as fat infiltration in this muscle. Fat infiltration was assessed by Magnetic Resonance (MRS).Baseline and 18 monthsNumber of Subjects Experiencing Treatment-emergent AEs (TEAEs), Serious AEs (SAEs), Mild TEAE Moderate TEAE, Severe TEAEAdverse Events are unfavorable changes in health, including abnormal laboratory findings, that occur in trial participants during the clinical trial or within a specified period following the trial. Serious Adverse Events include adverse events that result in death, require either inpatient hospitalization or the prolongation of hospitalization, are life-threatening, result in a persistent or significant disability/incapacity or result in a congenital anomaly/birth defect. Other important medical events, based upon appropriate medical judgment, may also be considered Serious Adverse Events if a trial participant's health is at risk and intervention is required to prevent an outcome mentioned.Baseline through end of study, that is the end of 18° monthEvaluation of Acceptability/Palatability of the Oral SuspensionAcceptability and palatability of the oral suspension over time are presented. More in details, child perception of the medicine at the three timepoints hereunder specified; parent perception of the medicine based on the child's reaction at the same three timepoints; and parent problems administering the medication at the same timepoints are reported.Week 4, EOS, early withdrawalFalse617FalseFalseTrueFalse NCT00819845Uildm RomeCatholic University, ItalyOTHERRamipril Versus Carvedilol in Duchenne and Becker Patients2009-01UNKNOWNData on preventive therapy in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affected individuals without cardiac involvement are very limited and currently lacking regard both ACE-inhibitors and Beta-Blockers in Becker Muscular Dystrophy and for the latter even in Duchenne Muscular Dystrophy patients. Thus, the study aim is to compare the efficacy of carvedilol vs ramipril on myocardial tissue properties and heart function, performing CMR and myocardial Ultrasound Tissue Characterisation analysis.INTERVENTIONALInclusion Criteria: 1. Immunohystochemical and molecular diagnosis of Duchenne and Becker muscular dystrophy. 2. Not evidence of clinical cardiomyopathy,normal 2D-echocardiography with normal systolic,WMSI = 1) and diastolic function. 3. DMD patients treated with steroid therapy. 4. All DMD and BMD patients are not treated with cardiological therapy (ACE-inhibitors, ARBs or Beta-Blockers). 5. Written informed consent to study participation (with serial visit, CMR and echocardiographic study) is required from all patients themselves, as well as their parent or guardian and healthy-control subjects. Exclusion Criteria: 1. Failure to obtain informed consent from patients, parents or guardians. 2. Any controindications to carvedilol or ramipril treatment (bronchial asthma, diabetes, any degree of renal failure (all patients are required to have a normal creatinine level and clearance). 3. in BMD patients ECG changes suggestive of ischemic heart disease, left bundle-branch block, atrial flutter/fibrillation, ventricular arrhythmias, any degree of atrioventricular block and left ventricular (LV) hypertrophy. Aspecific ST changes will be not considered as electrocardiographic exclusion criteria both in DMD and BMD patients. 4. In BMD patients exclusion criteria will be also hypertension and valvular heart disease other than trivial. 5. DMD and BMD patients requiring ventilatory (non-invasive or invasive) assistance. 6. Presence of systolic and/or diastolic dysfunction detected by 2D-Echocardiography. 7. Presence of any contraindications to CMR (including any history of claustrophobia). 8. Patients under the age of 2 years. 9. Renal failure, even mild. 10. Patient unable or unwilling to attend the follow-up and tests, in the opinion of local study principal investigator, (children not willing to perform CMR will not be enrolled).MALE2024-10-18T00:00:002009-01-082009-01-082016-01-272009-01-092016-01-282008-122009-062016-12falseData on preventive therapy in Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affected individuals without cardiac involvement are very limited and currently lacking regard both ACE-inhibitors and Beta-Blockers in Becker Muscular Dystrophy and for the latter even in Duchenne Muscular Dystrophy patients. Thus, the study aim is to compare the efficacy of carvedilol vs ramipril on myocardial tissue properties and heart function, performing CMR and myocardial Ultrasound Tissue Characterisation analysis.Duchenne Muscular Dystrophy;Becker Muscular DystrophyPHASE4194Left ventricular Ejection Fraction, systolic and diastolic left ventricular volumes and LGE (as a quantitative measure) detected by MRI and myocardial Ultrasound Tissue Characterisation data by Echocardiography.1 yearPrevalence of LGE in DMD and BMD patients,the effects of pharmacological therapy both on LGE evolution and myocardial UTC analysis.1 yearTrue245FalseFalseFalseFalse NCT06054971NSAA-RWE-001Red Nucleus Enterprise Solutions, LLCINDUSTRYNSAA NON-Interventional Study Protocol2023-11RECRUITINGThe purpose of this non-interventional study is to evaluate the feasibility of remotely administering the North Star Ambulatory Assessment (NSAA) to participants with Duchenne muscular dystrophy (DMD). The iTakeControl (iTC) software platform will be utilized to remotely administer and score the NSAAs.OBSERVATIONALInclusion Criteria: 1. Evidence of a signed and dated informed consent document indicating that the participant's legally authorized representative (LAR) has been informed of all pertinent aspects of the study, along with evidence of age-appropriate child assent. 2. Confirmed diagnosis of DMD 3. Participant with DMD aged 4 to12 (inclusive) at t Enrollment date 4. Participant with DMD is ambulatory without assistive devices, braces, or aids throughout the study 5. Caregiver has access to and/or willingness to learn use of a smart phone and the iTC study mobile application 6. Participant and caregiver are based in the US throughout study 7. Participant and caregiver are fluent in the English language (verbally and in writing) Exclusion Criteria: 1. Non-ambulatory DMD participant at any study timepoint 2. Caregiver/participant unwilling or unable to administer/perform the NSAA 3. Anticipated deterioration of participant's ambulatory status during the studyALL2024-10-18T00:00:002023-09-122023-09-192023-11-202023-09-262023-11-222023-10-022024-052024-05FalseFalseThe purpose of this non-interventional study is to evaluate the feasibility of remotely administering the North Star Ambulatory Assessment (NSAA) to participants with Duchenne muscular dystrophy (DMD). The iTakeControl (iTC) software platform will be utilized to remotely administer and score the NSAAs.Duchenne Muscular Dystrophy30Comparison of performance and ratings of the NSAA using three methods: 1) Live Telemedicine scores 2) Subsequent Recorded Telemedicine scores 3) Caregiver Asynchronous Video scores6 MonthsFalse412FalseFalseFalseFalse NCT023543522014H0387Ohio State UniversityOTHERTherapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy2019-09COMPLETEDThe study is to demonstrate non-inferiority of spironolactone vs. eplerenone in preserving cardiac and pulmonary function in patients with preserved LV ejection fraction. Males with Duchenne muscular dystrophy (DMD) confirmed clinically and by mutation analysis will be enrolled. Subjects will be randomized to either eplerenone or spironolactone. Subjects will use a drug diary to record daily compliance of taking the study medication as well as any concerns they may have during the study period. Subjects will undergo cardiac magnetic resonance imaging (CMR) and pulmonary function tests (PFT) at baseline and then again at 12 months post enrollment. Subjects will also complete a quality of life questionnaire at baseline and 12 months. Degree of elbow contracture will be measured using a goniometer at baseline and 12 months.INTERVENTIONALInclusion Criteria: * Boys age ≥7 years with DMD confirmed clinically and by mutation analysis able to undergo cardiac magnetic resonance (CMR) without sedation * LV EF ≥45% (+/-5%) by clinically-acquired echocardiography, nuclear scan or cardiac MRI done within 2 weeks of enrollment Exclusion Criteria: * Non-MR compatible implants * Severe claustrophobia * Gadolinium contrast allergy * Kidney disease * Prior use of or allergy to aldosterone antagonist * Use of other investigational therapy.MALE2024-10-18T00:00:002015-01-272015-02-022019-09-232015-02-032019-10-072015-03-202018-052018-05trueThe study is to demonstrate non-inferiority of spironolactone vs. eplerenone in preserving cardiac and pulmonary function in patients with preserved LV ejection fraction. Males with Duchenne muscular dystrophy (DMD) confirmed clinically and by mutation analysis will be enrolled. Subjects will be randomized to either eplerenone or spironolactone. Subjects will use a drug diary to record daily compliance of taking the study medication as well as any concerns they may have during the study period. Subjects will undergo cardiac magnetic resonance imaging (CMR) and pulmonary function tests (PFT) at baseline and then again at 12 months post enrollment. Subjects will also complete a quality of life questionnaire at baseline and 12 months. Degree of elbow contracture will be measured using a goniometer at baseline and 12 months.Duchenne Muscular DystrophyPHASE352Left Ventricular Straina sensitive measure of heart muscle function12 monthsFalse7FalseFalseFalseFalse NCT00468832UCD0305Cooperative International Neuromuscular Research GroupNETWORKLongitudinal Study of the Natural History of Duchenne Muscular Dystrophy (DMD)2016-04UNKNOWNThe purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for a minimum of eight years) at DMD participant's physical abilities, the medical problems they experience, and how they use health care services. Physical abilities will be compared to a group of healthy controls. The second purpose of this study is to find out whether small, normal differences in the genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect how their disease progresses and relates to muscle strength/size and steroid response. The third purpose of this study is to study genetic variations associated with DMD. The final purpose of this study is to determine whether certain biomarkers are present in people with DMD and not in healthy controls.OBSERVATIONALDMD Subject Inclusion Criteria * Affected subjects must be male and between the ages of 2 and 30 * Affected subjects between the ages of 2 and 4 must have a diagnosis of DMD confirmed by at least one the following OR have an older male sibling that meet at least one of the following criteria: * Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical Duchenne dystrophy OR * Gene deletion test positive (missing one or more exons) in the central rod domain exons 25-60) of dystrophin, where reading frame can be predicted as 'out-of-frame',and clinical picture consistent with typical Duchenne dystrophy. * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein(i.e. nonsense mutation, deletion/duplication leading to a downstream stop codon),with a typical clinical picture of DMD. * Affected subjects between the ages of 5 and 30 must either fulfill the above criteria OR show evidence of a dystrophinopathy and clinical picture consistent with Duchenne Muscular Dystrophy * Participants who have documented clinical symptoms referable to a dystrophinopathy and direct support of the diagnosis by either (1) a positive DNA analysis for dystrophin mutation, (2) a muscle biopsy demonstrating abnormal dystrophin, or (3) an elevated CK (\>5X normal), and X-linked pedigree and an affected family member who meets either criterion (1) or (2) as described above. NOTE: Determination of the appropriate clinical symptoms consistent with DMD will generally be the responsibility of the clinician. At a minimum this will include progressive loss of function, with additional consideration for other clinical features such as a characteristic gait, a positive Gower sign and calf pseudohypertrophy. When immunostaining of muscle biopsy is used to determining case definition, the clinical reviewer (site PI) should confirm that appropriate testing has ruled out a secondary deficiency of dystrophin. Affected subjects that do not exhibit the above symptoms consistent with DMD should be excluded. o Muscle weakness prevalent by 5 years of age - Non-affected adult subjects must be Parent(s) or legal guardian(s) of an eligible affected subject. DMD Serum Biomarker Inclusion Criteria * Participants must meet eligibility criteria for the DMD phenotyping portion of this study * For the GC-treatment response cohort, participants must initiate GC treatment within the first year of study participation (i.e. between their first study visit and their one year follow-up visit) DMD Subject Exclusion Criteria For those subjects that confirm DMD diagnosis through a clinical picture consistent with DMD * Steroid-naïve subjects ambulating past the 13th birthday * Steroid users ambulating past the 16th birthday * Subjects/families who are unwilling or unable to comply with the protocol study procedures or visits Controls Subject Inclusion Criteria * Male sex * Age 6-30 years * Able to comply with functional testing instructions Control Serum Biomarker Inclusion criteria * Participants must be male * Participants must be free of DMD, other neuromuscular disease, or other significant concomitant illness * Participant must be free of glucocorticoid therapy Control Subject Exclusion Criteria * Musculoskeletal disease * Musculoskeletal injury within 6 months of enrollment * Other concomitant illness that precludes functional testing in the judgment of the investigator or clinical evaluator * Completion of enrollment for age cohortMALE2024-10-18T00:00:002007-05-012007-05-012016-04-192007-05-032016-04-212005-122019-122019-12trueThe purpose of this study is to establish the largest long-term assessment of people with Duchenne muscular dystrophy (DMD). In this study, the investigators associated with the Cooperative International Neuromuscular Research Group CINRG) will take a detailed look (for a minimum of eight years) at DMD participant's physical abilities, the medical problems they experience, and how they use health care services. Physical abilities will be compared to a group of healthy controls. The second purpose of this study is to find out whether small, normal differences in the genetic makeup of people with DMD (called "single nucleotide polymorphisms" or "SNPs") affect how their disease progresses and relates to muscle strength/size and steroid response. The third purpose of this study is to study genetic variations associated with DMD. The final purpose of this study is to determine whether certain biomarkers are present in people with DMD and not in healthy controls.Duchenne Muscular Dystrophy551Strength and functionThese assessments include: * Quantitative muscle testing * Manual muscle testing * Pulmonary function testing * Functional evaluations (nine hole peg, six minute walk, North Star ambulatory assessment, Brooke and Vignos scales, Egen Klassification (EK) scale, and range of motion).Collected at yearly visitsQuality of lifeThese questionnaires include: * Pediatric Quality of Life Inventory (PedsQL) * Pediatric Orthopaedic Functional Health Questionnaire of the Pediatric Orthopaedic Society of North America (POSNA) * World Health Organization Quality of Life Assessment - Brief (WHO QOL Brief) * Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL) * Review of SystemsCollected at yearly visitsMedical history assessmentOutcomes on ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests.Collected at yearly visitsBiomarkers and genetic modifiersGenotyping and Serum Biomarkers include blood/saliva collection for: * Blood collection for Genome Wide Association Study (GWAS) analysis (one time sample, any visit) * Blood or saliva collection for SNP sample (one time sample, any visit) * Blood collection for biomarker analysis (collected at each visit)Collected either once at any visit or each visitTrue230FalseFalseFalseFalse NCT06579352IND 16561 - Serial 0017MED Institute Inc.INDUSTRYExpanded Access Study of UC-MSC in DMD Patients2024-08AVAILABLEThe primary objective of this study is to provide UC-MSC treatment to patients with DMD. Secondary objectives will be to further evaluate treatment-related adverse events as well as changes in DMD-related functional testing/assessments, blood laboratories, and inflammation related biomarker levels over time.EXPANDED_ACCESSInclusion Criteria: 1. Male sex by birth with a genetically confirmed diagnosis of Duchenne Muscular Dystrophy (DMD). 2. Age is greater than or equal to 5 and less than or equal to 10 years. 3. Has a North Star Ambulatory Assessment (NSAA) score greater than 13 and less than 30. 4. Demonstrates the ability to perform the "time to rise" test in under 10 seconds. 5. Is up-to-date on immunizations. 6. Is on a stable dose of glucocorticoids for at least 12 weeks prior to study participation, except for weight-based or toxicity-related adjustments. 7. Is on a stable dose of supplements for at least 12 weeks prior to study participation. 8. Has the ability to comply with the requirements of the study and the ability to understand and provide written informed assent and a guardian's consent. 9. Patient must be either a non-responder to or a poor candidate for treatment with another established therapy. Exclusion Criteria: 1. Active cancer or prior diagnosis of cancer within the past year (patients with basal and squamous cell cancer of the skin will not be excluded). 2. BMI \> 45 kg/m². 3. Any other condition (including concomitant treatment) that, in the judgment of the Investigator or Sponsor, would be a contraindication to enrollment, study product administration (e.g., known hypersensitivity to dimethyl sulfoxide (DMSO), Human Serum Albumin (HSA), or PlasmaLyte), or follow-up. 4. Treatment with an exon skipping therapy within 3 months of study start. 5. Cognitive delay or impairment that can confound motor development in the opinion of the investigator. 6. Major surgery within 3 months prior to Day 0 or planned surgery or procedures that could affect the conduct of the study.MALE2024-10-18T00:00:002024-08-272024-08-272024-08-272024-08-302024-08-30The primary objective of this study is to provide UC-MSC treatment to patients with DMD. Secondary objectives will be to further evaluate treatment-related adverse events as well as changes in DMD-related functional testing/assessments, blood laboratories, and inflammation related biomarker levels over time.Duchenne Muscular DystrophyFalseFalseFalseFalse NCT01712152DIGDMDCentre d'Investigation Clinique et Technologique 805OTHERDigestive Events in Duchenne Muscular Dystrophy Patients2020-05COMPLETEDRelation between clinical and genetic features and acute digestive events in Duchenne muscular dystrophy patientsOBSERVATIONALInclusion Criteria: * all Duchenne muscular dystrophy patients in our center Exclusion Criteria: * noneMALE2024-10-18T00:00:002019-07-192020-05-112020-05-112020-05-122020-05-122007-012018-122019-04falseFalseFalseRelation between clinical and genetic features and acute digestive events in Duchenne muscular dystrophy patientsDuchenne Muscular Dystrophy200Incidence of digestive eventsClinical parameters (yes or no): gastrostomy, bowel occlusion, acute gastric paresia, biliary complication11 yearsPrevalence of digestive eventsClinical parameters (yes or no) : gastrostomy, bowel occlusion, acute gastric paresia, biliary complication11 yearsRisk factors for digestive events (1)age (years)11 yearsRisk factors for digestive events (2)pulmonary functional tests (vital capacity in ml/kg)11 yearsRisk factors for digestive events (3)echocardiography parameters (LVEF: left ventricular ejection fraction in %)11 yearsRisk factors for digestive events (4)residual dystrophin level (Western blot and/or immunohistochemistry in muscle)11 yearsRisks factors for digestive events (5)genetic parameters (type of mutation, functional domain of altered dystrophin)11 yearsNutritional status (1)Weigh (kg) and height (in m) agregated in BMI (kg/m\^2)11 yearsNutritional status (2)albuminemia in g/L11 years15FalseFalseFalseFalse NCT0520908716969557-451Hacettepe UniversityOTHEREffects of Parental Influence on Physical Activity Level and Participation in Children With Duchenne Muscular Dystrophy2022-09COMPLETEDThis study was planned to investigate the parental influence on physical activity (PA) level and participation in ambulatory children with Duchenne muscular dystrophy (DMD). For this purpose, 30 children with DMD between the ages of 8-18, who were between Levels 1-4 according to the Brooke Lower Extremity Functional Classification (BLEFC), were included in the study. The demographic information of the participants and their detailed information about the disease were recorded. Parents' PA level was assessed via International Physical Activity Questionnaire-Short Form (IPAQ-SF); Children's PA level was assessed via Physical Activity Questionnaire for Children (PAQ-C) and pedometer, participation was assessed via Pediatric Outcomes Data Collection Instrument (PODCI), and parental influence was assessed via Children's Physical Activity Correlates (CPAC). Additionally, children's PA interest was assessed via Children's Attraction to Physical Activity (CAPA). SPSS 25 program was used in the statistical analysis of the evaluation results. The mean age of the individuals included in the study was found to be 8,70±0,84. Parental influence evaluations, positive and weak-moderate correlations were determined between CPAC Questionnaire "Parental Influence" sub-dimension with PAQ-C (r=0,582), CAPA (0,432) and PODCI (r=0,372) (p\<0,05). A positive, moderate correlation was found between the PA levels of mothers obtained from IPAQ-SF and PAQ-C (p\<0,01). The results of the study show that the parents, especially the mother who is the primary caregiver, can be an important factor to improve the PA levels, increase their attraction to PA and participation in children with DMD.OBSERVATIONALInclusion Criteria: * Participating in the study on a voluntary basis * The ages of 8 and 18 who have been diagnosed with Duchenne Muscular Dystrophy * Being in the first four levels according to the Brooke Lower Extremity Functional -Classification (BAEFS) (ambulatory children) * Not having difficulties in cooperation Exclusion Criteria: * Have undergone any musculoskeletal surgery in the last 6 months that may affect gait * Having compliance problems that cannot follow the physiotherapist's instructionsMALE2024-10-18T00:00:002022-01-132022-01-132022-09-062022-01-262022-09-092020-03-012022-06-152022-08-15falseFalseFalseThis study was planned to investigate the parental influence on physical activity (PA) level and participation in ambulatory children with Duchenne muscular dystrophy (DMD). For this purpose, 30 children with DMD between the ages of 8-18, who were between Levels 1-4 according to the Brooke Lower Extremity Functional Classification (BLEFC), were included in the study. The demographic information of the participants and their detailed information about the disease were recorded. Parents' PA level was assessed via International Physical Activity Questionnaire-Short Form (IPAQ-SF); Children's PA level was assessed via Physical Activity Questionnaire for Children (PAQ-C) and pedometer, participation was assessed via Pediatric Outcomes Data Collection Instrument (PODCI), and parental influence was assessed via Children's Physical Activity Correlates (CPAC). Additionally, children's PA interest was assessed via Children's Attraction to Physical Activity (CAPA). SPSS 25 program was used in the statistical analysis of the evaluation results. The mean age of the individuals included in the study was found to be 8,70±0,84. Parental influence evaluations, positive and weak-moderate correlations were determined between CPAC Questionnaire "Parental Influence" sub-dimension with PAQ-C (r=0,582), CAPA (0,432) and PODCI (r=0,372) (p\<0,05). A positive, moderate correlation was found between the PA levels of mothers obtained from IPAQ-SF and PAQ-C (p\<0,01). The results of the study show that the parents, especially the mother who is the primary caregiver, can be an important factor to improve the PA levels, increase their attraction to PA and participation in children with DMD.Muscular Dystrophy, Duchenne30International Physical Activity Questionnaire-Short Form-IPAQ-SFThe International Physical Activity Questionnaire-Short Form is used to determine the physical activity level of parents between the ages of 18-65. It contains 7 questions about the activities done in the last 7 days.BaselinePhysical Activity Questionnaire for Children-PAQ-CThe Physical Activity Questionnaire for Children is used to determine the physical activity level of children between the ages of 8-14. It contains 7 questions about the activities done in the last 7 days.BaselinePhysical Activity Questionnaire for Adolescents-PAQ-AThe Physical Activity Questionnaire for Adolescents is used to determine the physical activity level of children between the ages of 14-18. It contains 7 questions about the activities done in the last 7 days.BaselineSix Minute Walk Test-6MWTSix Minute Walk Test is used to measure walking function and physical capacity at the submaximal level in children with DMD. 6MWT is used as the gold standard in evaluating the functional capacity of patient with Duchenne Muscular Dystrophy.BaselineNorth Star Ambulatory Assessment-NSADNorth Star Ambulatory Assessment is a performance-based test developed to evaluate the ambulation level of children with DMD who can walk.BaselineChildren's Attraction to Physical Activity Scale-CAPAChildren's Attraction to Physical Activity Scale is a questionnaire that used to assess children's interest in physical activity. It consists of 15 questions. The questionnaire is filled by the researcher reading the questions aloud and the child responding.BaselineThe Pediatric Outcomes Data Collection Instrument (PODCI)The Pediatric Outcomes Data Collection Instrument is a questionnaire used to measure functional outcomes. Functional dimensions assessed include upper extremity functioning, transfers and basic mobility, sports and physical function, comfort/pain, global function and happiness with physical condition. This study uses PODCI to quantify the physical activity participation of a group of DMD patients.BaselinePedometerPedometers are measurement tools developed for counting steps that can measure and record vertical movements. This study used pedometer to determine the physical activity level of children.5 daysChildren's Physical Activity Correlates-CPACChildren's Physical Activity Correlates used to evaluate the factors affecting physical activity in children. It consists of 44 questions. The questionnaire is filled by the researcher reading the questions aloud and the child responding.BaselineFalse818FalseFalseTrueFalse NCT05967351SRP-9001-305Sarepta Therapeutics, Inc.INDUSTRYA Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study2024-09ENROLLING_BY_INVITATIONThe purpose of this study is to provide a single clinical study with a uniform approach to monitoring long-term safety and efficacy in participants who received delandistrogene moxeparvovec in a previous clinical study. No study drug will be administered as part of this study. Pre-infusion baseline will be defined as the timepoint just prior to infusion of delandistrogene moxeparvovec from a previous clinical study. Each participant will be followed for a minimum of 5 years post-infusion of delandistrogene moxeparvovec from a previous clinical study. The duration of participation in this study is dependent on the length of follow-up the participant completed post-infusion of delandistrogene moxeparvovec from a previous clinical study.INTERVENTIONALInclusion Criteria: * Received delandistrogene moxeparvovec for Duchenne muscular dystrophy in a previous clinical study. * Has (a) parent(s) or legal caregiver(s) or is ≥18 years of age and able to understand and comply with the study visit schedule and all other protocol requirements. Exclusion Criteria: * Participant or family does not want to disclose participation with general practitioner/primary care physician and other medical providers. Other inclusion/exclusion criteria may apply.MALE2024-10-18T00:00:002023-07-212023-07-212024-09-172023-08-012024-09-192023-09-272030-11-302030-11-30trueTrueFalseThe purpose of this study is to provide a single clinical study with a uniform approach to monitoring long-term safety and efficacy in participants who received delandistrogene moxeparvovec in a previous clinical study. No study drug will be administered as part of this study. Pre-infusion baseline will be defined as the timepoint just prior to infusion of delandistrogene moxeparvovec from a previous clinical study. Each participant will be followed for a minimum of 5 years post-infusion of delandistrogene moxeparvovec from a previous clinical study. The duration of participation in this study is dependent on the length of follow-up the participant completed post-infusion of delandistrogene moxeparvovec from a previous clinical study.Duchenne Muscular DystrophyPHASE3400Number of Participants with a Treatment-emergent Adverse Event (TEAE), Serious Adverse Event (SAE), and Adverse Event of Special Interest (AESI)Up to 5 years after dosingChange in the North Star Ambulatory Assessment (NSAA) Total Score From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Time to Rise From Floor From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in the Time of 10-meter Walk/Run (10MWR) From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Performance of Upper Limb (PUL) (Version 2.0) Total Scores From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in PUL (Version 2.0) Domain Specific Scores From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Forced Vital Capacity Percent (FVC%) Predicted From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Peak Expiratory Flow Percent (PEF%) Predicted From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Cardiac Magnetic Resonance Imaging (MRI) Findings From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsChange in Musculoskeletal MRI Findings From Pre-infusion Baseline to 5 Years Post-infusion of Delandistrogene MoxeparvovecBaseline, 5 yearsFalseFalseFalseFalseFalse NCT00102453CNMC0302Cooperative International Neuromuscular Research GroupNETWORKPentoxifylline in Duchenne Muscular Dystrophy2011-10COMPLETEDIn this study, the primary aim will be to estimate the magnitude and variability of strength change over time that may be expected for subjects on the study treatment. This estimate of effect will allow us to develop a rigorous statistical plan in the future randomized study. The specific estimation technique to be applied will use a linear random effects model to estimate average strength change during the 3-month lead-in period and then during the twelve-month treatment period, taking into account the quantitative muscle testing (QMT) measures for each subject. Accounting for the correlation between repeated measures from each subject by using a random effects model will yield an unbiased estimate of variability for the population average change in strength. We will use an analysis of pre- and post-treatment data to inform a best estimate of treatment effect. For example, the difference in QMT trends pre- and post-treatment would provide a straightforward measure of efficacy.INTERVENTIONALInclusion Criteria: 1. Male 2. Age 4 to 7 years 3. Ambulant independently. Subjects may use a wheelchair occasionally, but only for long distances 4. Diagnosis of DMD confirmed by at least one of the following: * Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD OR * Gene deletion test positive (missing one or more exons) in the central rod domain (exons 25-60) of dystrophin, where reading frame can be predicted as 'out-of-frame', * and clinical picture consistent with typical DMD. * Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, or other mutation resulting in a stop codon mutation) that can be definitely associated with DMD, with a typical clinical picture of DMD. 5. Positive family history of DMD confirmed by one of the criteria listed above in a sibling or maternal uncle, and clinical picture typical of DMD. 6. Glucocorticosteroid - naïve (i.e. has not been treated with prednisone or Deflazacort within 1 year before onset of the study) 7. Has not participated in other therapeutic research protocol within the last 6 months. 8. Evidence of muscle weakness by MRC score or clinical functional evaluation 9. Ability to provide reproducible repeat QMT bicep score of either the right or left arm within 15% of first assessment score. Exclusion Criteria: 1. Symptomatic DMD carrier 2. Use of any medication, nutritional supplement or herb for treatment of DMD within the last 3 months. 3. Symptomatic cardiomyopathy or ventricular arrhythmias 4. History of significant concomitant illness, impairment of blood clotting ability (as evidenced by increased PT/PTT or bleeding time over the upper limit of normal (ULN)), recent cerebral or retinal hemorrhage, bleeding diathesis, gastric ulcer, hypotension or significant impairment of renal or hepatic function (defined as serum creatinine and GGT respectively, greater than 1.5 times normal upper limit for age and gender).MALE2024-10-18T00:00:002005-01-292005-01-282011-10-262005-01-312011-10-272002-032006-072007-05trueIn this study, the primary aim will be to estimate the magnitude and variability of strength change over time that may be expected for subjects on the study treatment. This estimate of effect will allow us to develop a rigorous statistical plan in the future randomized study. The specific estimation technique to be applied will use a linear random effects model to estimate average strength change during the 3-month lead-in period and then during the twelve-month treatment period, taking into account the quantitative muscle testing (QMT) measures for each subject. Accounting for the correlation between repeated measures from each subject by using a random effects model will yield an unbiased estimate of variability for the population average change in strength. We will use an analysis of pre- and post-treatment data to inform a best estimate of treatment effect. For example, the difference in QMT trends pre- and post-treatment would provide a straightforward measure of efficacy.Muscular Dystrophy, DuchennePHASE1PHASE217QMT measurementsQuantitative muscle testing (QMT) is a technique utilized to assess muscle strength. Measurements of force are collected using a load cell while performing a maximum voluntary isometric contraction. This set-up is able to measure changes in strength of 0.25 lb which provides accurate and sensitive measurement of muscular strength. QMT is performed by a CINRG physical therapist.Each study visitChange in manual muscle test (MMT) at 12 monthsManual muscle testing (MMT), which is graded according to the modified Medical Research Council (MRC) scale, is a test of a participant's muscle strength, or ability of the muscle to move a part of the body against resistance. A CINRG physical therapist will perform MMT testing with each participant.Each study visitFalse47TrueFalseFalseFalse NCT02020954Becker-Heart-StudyInstitut de Myologie, FranceOTHERProspective Becker-Heart-Study2015-03UNKNOWNThe purpose of this study is to determine whether electrocardiogram, echocardiography, cardiac MRI, sera biomarkers can improve early detection of myocardial involvement and clinical outcome.OBSERVATIONALInclusion Criteria: * mutation in the DMD gene * Becker muscular dystrophy and/or dilated cardiomyopathy * age\>18 years * affiliation to the French medical insurance Exclusion Criteria: * Duchenne muscular dystrophy * Any other chronic disease that may be associated with heart diseaseMALE2024-10-18T00:00:002013-12-192013-12-192015-03-232013-12-252015-03-242013-012017-062017-06trueThe purpose of this study is to determine whether electrocardiogram, echocardiography, cardiac MRI, sera biomarkers can improve early detection of myocardial involvement and clinical outcome.Dilated Cardiomyopathy;Lef Ventricular Dysfunction;Heart Failure100Left ventricular ejection fraction3 yearsComposite endpoint: hospitalisation for heart failure, death due to heart failure3 yearsFalse1870FalseFalseFalseFalse NCT02653833Pro00041688Cedars-Sinai Medical CenterOTHERThe Study of Skeletal Muscle Blood Flow in Becker Muscular Dystrophy2019-06TERMINATEDThis pilot study tests the hypothesis that the medication nitric oxide extract from beetroot juice improves blood flow to the skeletal muscle during exercise. The investigators will use cutting edge technology with contrast enhanced ultrasound to visualize the microvascular blood supply to the forearm. Animal studies have shown reversal of muscle damage with improved delivery of blood to the exercising muscle. This research aims to understand the mechanism of action of this medication in a way it has never been studied before. The results may help benefit individuals with muscular Dystrophy in the future.INTERVENTIONALInclusion Criteria: * Healthy man, aged 18 to 45 years, currently taking no medication. OR * Clinical diagnosis of Becker Muscular Dystrophy (BMD), aged 18 to 45 years, and currently taking no medication. Exclusion Criteria: * Hypertension, diabetes, heart failure, liver disease * ECG evidence of prolonged QT intervalMALE2024-10-18T00:00:002015-12-142016-01-102020-01-102016-01-122020-01-142017-11-012018-09-012018-09-01falseTrueFalseThis pilot study tests the hypothesis that the medication nitric oxide extract from beetroot juice improves blood flow to the skeletal muscle during exercise. The investigators will use cutting edge technology with contrast enhanced ultrasound to visualize the microvascular blood supply to the forearm. Animal studies have shown reversal of muscle damage with improved delivery of blood to the exercising muscle. This research aims to understand the mechanism of action of this medication in a way it has never been studied before. The results may help benefit individuals with muscular Dystrophy in the future.Muscular DystrophyEARLY_PHASE16Change in Skeletal Muscle Blood FlowExercise induced skeletal muscle perfusion is measured by contrast-enhanced ultrasound (CEU) during graded voluntary contraction on a hand grip dynamometer.At baseline and within one hours after taking beetroot juice or TadalafilChange in Measured Functional SympatholysisFunctional sympatholysis (attenuation of exercise induced skeletal muscle vasoconstriction) is assessed using a lower body negative pressure chamber.At baseline, and within an hour after taking beetroot juice or TadalafilChange in Measured Flow Mediated Dilation (FMD)Endothelial function is assessed by measuring flow-mediated dilation (FMD) by Doppler ultrasound.At baseline, and within an hour after taking beetroot juice or TadalafilTrue1845FalseFalseFalseFalse NCT05066633NBK 154/1/2020Medical University of GdanskOTHERThe Efficacy and Safety of Metoprolol as add-on Treatment to Standard of Care in Preventing Cardiomyopathy in Patients With DMD2021-09RECRUITINGThe study includes 150 patients with DMD diagnosis confirmed by genetic testing, 8-16 years old (≥8 and \<17) at the study entry with a follow-up of up to 5 years. Random enrollment of a patient to one of two groups (intervention or control) takes place after pre-screening and screening stage starts the first phase of the trial. To be eligible for participation in the study, patients must receive standard of care cardiac therapy, which is an Angiotensin-converting-enzyme inhibitor (ACEi) for at least one-month prior to enrollment. A major part of the trial is equal for all patients - who will be receiving indistinguishable investigational medicinal products (IMPs), the drug metoprolol succinate or placebo. As a part of the clinical trial, diagnostic examinations evaluating progression of the disease, will be performed periodically. In addition, all patients will be monitored at home. Heart rate, blood pressure and patients' personal well-being will be controlled using telemedicine technologies. Additional visits in the research center will be provided if any adverse events occur. This model will be continued for 30 months from the enrollment of a first patient. After this period the first drug efficiency analysis will be performed. After that, the intervention may be continued or in case of negative impact of the intervention on patients' health and well-being, terminated with further patients monitoring.INTERVENTIONALInclusion Criteria: * Subject's parent(s) or legal guardian(s) has (have) provided written informed consent, where applicable, prior to any study-related procedures; participants will be asked to give written or verbal assent according to requirements (\>16 years old) * Stated willingness to comply with all study procedures and availability for the duration of the study * Ability to take oral medication and be willing to adhere to the study intervention regimen * Subject has confirmed diagnosis of DMD, as defined as clinical picture consistent with typical DMD and: i) Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, or ii) Identifiable mutation within the DMD gene (deletion/duplication of one or more exons), where reading frame can be predicted as 'out-of-frame' or, iii) Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein (i.e., nonsense mutation, deletion/duplication leading to a downstream stop codon) * Taking ACEi treatment at minimum required doses for at least 30 days Exclusion Criteria: * Current or previous permanent use of any beta-blocker medication * Treatment with another investigational drug or other intervention within 3 months prior to screening * Clinically significant bradycardia at rest or by Holter ECG, based on age and sex adjusted normal values, atrioventricular block higher than first degree at rest, or second degree Wenckebach at night, pauses longer than 2.5 seconds * Presence of pacemaker or ICD * Clinical signs or symptoms of heart failure * Left ventricular Ejection Fraction (LVEF) \<57% (assessed by Teichholtz echocardiography) * Inability to obtain adequate quality echocardiography images (necessary to monitor for primary endpoint and safety) * Known allergic reactions to components of the IMPsMALE2024-10-18T00:00:002021-09-232021-09-232021-09-232021-10-042021-10-042021-08-182023-06-302026-06-30trueFalseFalseThe study includes 150 patients with DMD diagnosis confirmed by genetic testing, 8-16 years old (≥8 and \<17) at the study entry with a follow-up of up to 5 years. Random enrollment of a patient to one of two groups (intervention or control) takes place after pre-screening and screening stage starts the first phase of the trial. To be eligible for participation in the study, patients must receive standard of care cardiac therapy, which is an Angiotensin-converting-enzyme inhibitor (ACEi) for at least one-month prior to enrollment. A major part of the trial is equal for all patients - who will be receiving indistinguishable investigational medicinal products (IMPs), the drug metoprolol succinate or placebo. As a part of the clinical trial, diagnostic examinations evaluating progression of the disease, will be performed periodically. In addition, all patients will be monitored at home. Heart rate, blood pressure and patients' personal well-being will be controlled using telemedicine technologies. Additional visits in the research center will be provided if any adverse events occur. This model will be continued for 30 months from the enrollment of a first patient. After this period the first drug efficiency analysis will be performed. After that, the intervention may be continued or in case of negative impact of the intervention on patients' health and well-being, terminated with further patients monitoring.Muscular Dystrophy, DuchennePHASE3150Change in left ventricular ejection fraction (LVEF %) by Teichholtz method (echocardiography), compared to baseline at Interim Analysis and Final Analysis.To evaluate whether metoprolol succinate in addition to standard of care treatment compared to placebo in children with DMD delays the progression of LV function loss.24 monthsDFS (the time to develop clinically evident heart failure)To evaluate whether metoprolol succinate in addition to standard of care treatment compared to placebo in children with DMD delays progression of cardiomyopathy and heart failure24 monthsPrevalence of patients with myocardial fibrosis assessed by LGE Cardiac magnetic resonance (CMR)To evaluate whether metoprolol succinate in addition to standard of care treatment compared to placebo in children with DMD delays progression of LGE in CMR24 monthsPrevalence of patients with sinus tachycardia based on resting HR (ECG) or defined as mean daily heart rate above 95th percentile for age and sexTo evaluate whether metoprolol succinate in addition to standard of care treatment compared to placebo in children with DMD prevents sinus tachycardia commonly seen in DMD patients24 monthsThe rate of AE and SAETo assess the safety and tolerability of metoprolol succinate in children with DMD24 monthsFalse817FalseFalseFalseFalse NCT0474055409942913.4.0000.5505University of Sao PauloOTHERHeart Rate Variability in Individuals With Duchenne Muscular Dystrophy2021-02COMPLETEDA cross-sectional study was carried out, in which 40 boys, aged 11 to 18 years, were evaluated. The recruitment of groups was carried out at the neuromuscular disease outpatient clinic of the Federal University of São Paulo (UNIFESP). The recruited individuals were divided into 4 groups, namely: DMD that used deflazacort (DMD-D); DMD that used Prednisone/Prednisolone (DMD-P); DMD Control with no corticoid use (DMD-C) and Controls with typical development (CTD). The protocol was applied during the evaluation that was carried out at outpatient follow-up visits. To assess the functionality of each patient, the Vignos scales were used to characterize the sample and the Motor Function Measure (MFM) for association with HRV indices. All heart rate records were performed using a cardiofrequencymeter (V800, Polar). After placing the brace and monitor, the individuals were placed in the supine position and remained at rest spontaneously breathing for 25 minutes. For HRV analysis, indexes obtained by linear methods, in the domain of time and frequency, and non-linear methods were used.OBSERVATIONALInclusion Criteria: * Individuals diagnosed with DMD confirmed by molecular method and / or by protein expression of skeletal muscle. * Individuals undergoing clinical follow-up at the outpatient clinic for neuromuscular diseases at the Federal University of São Paulo (UNIFESP) * Individuals who had authorization from their parents or guardians to participate in the study Exclusion Criteria: * Patients with cardiac arrhythmias. * Patients with atrioventricular block. * Patients with congenital anomalies such as congenital heart defects, pulmonary deformity. * Patients using drugs that interfere with ANS, such as antiarrhythmic agents and drugs for the treatment of diabetes mellitus, such as insulin.MALE2024-10-18T00:00:002021-02-012021-02-012021-02-012021-02-052021-02-052013-03-012014-09-012015-02-01falseFalseFalseA cross-sectional study was carried out, in which 40 boys, aged 11 to 18 years, were evaluated. The recruitment of groups was carried out at the neuromuscular disease outpatient clinic of the Federal University of São Paulo (UNIFESP). The recruited individuals were divided into 4 groups, namely: DMD that used deflazacort (DMD-D); DMD that used Prednisone/Prednisolone (DMD-P); DMD Control with no corticoid use (DMD-C) and Controls with typical development (CTD). The protocol was applied during the evaluation that was carried out at outpatient follow-up visits. To assess the functionality of each patient, the Vignos scales were used to characterize the sample and the Motor Function Measure (MFM) for association with HRV indices. All heart rate records were performed using a cardiofrequencymeter (V800, Polar). After placing the brace and monitor, the individuals were placed in the supine position and remained at rest spontaneously breathing for 25 minutes. For HRV analysis, indexes obtained by linear methods, in the domain of time and frequency, and non-linear methods were used.Duchenne Muscular Dystrophy40Heart Rate Variability in adolescents with Duchenne Muscular Dystrophy undergoing therapy with corticosteroidsHeart rate variability indices at rest in adolescents with duchenne muscular dystrophy will be analyzed, which will be divided into the following groups: Under the use of Deflazacort, Predinisone / Predinisolone and without the use of corticosteroids, in addition to the analysis of a control group with typical development.One dayTrue1118TrueFalseFalseFalse NCT01350154RHGLBMDRigshospitalet, DenmarkOTHEREffect of Modulating the nNOS System on Cardiac, Muscular and Cognitive Function in Becker Muscular Dystrophy Patients2013-04COMPLETEDThis study is done to evaluate whether treatment with the drug sildenafil (Revatio®) can improve muscular, cardiac, cerebrovascular or cognitive function in patients with Beckers muscular dystrophy when compared to placebo (inactive medication). The study is based on the recent findings of an improved cardiac function in a mouse model of muscular dystrophy (Adamo et al 2010) and the previous findings of changed cognitive function in people with Becker dystrophy. In muscular dystrophy, the cellular protein, dystrophin is affected. During normal conditions, the enzyme neuronal nitric oxide synthase (nNOS), which produce nitric oxide (NO), is attached to dystrophin. NO is important in normal vascular function in each of muscle, heart and brain by stimulating production of cyclic GMP. However, in muscular dystrophy with dystrophin deficiency, nNOS do not have the normal cellular anchor, resulting in decreased NO levels and subsequent reduced cyclic GMP production. Sildenafil inhibits degradation of cGMP thus prolonging and increasing a cGMP response. Such effects are the basis for use of sildenafil in pulmonary hypertension and erectile dysfunction. Current hypothesis: Sildenafil restores the cyclic GMP function affected in muscular dystrophy wit nNOS deficiency resulting in improved muscle, cardiac, cerebrovascular and cognitive function.INTERVENTIONALInclusion Criteria: * Muscular dystrophy with known deficiency in nNOS * Reduced cardiac function (\<50%) and/or reduced muscular function (MRC\<4+) * Stable dosing (\> 3 month)of cardiovascular medication * Signed informed consent Exclusion Criteria: * Recent (\< 6 month) cerebral or cardiac stroke * Use of nitrate containing compounds, alpha receptor blocking agents or potent CUP3A4 inhibitors. * Intolerance or allergy to sildenafil, or intake of drugs not compatible with sildenafil intake * Overuse of drugs or alcohol * inclusion in other trials of experimental medication within last 30 days * known epilepsy * reduced liver function (ASAT \>500U/l in 2 repeated measurements when corrected for increase in creatinkinase levels. * non-arteriitis anterior ischemic optic neuropathy (NAION) with reduced vision * contraindications for MRI scan (metal implants, claustrophobia) * hypotension (\<90 mmHg systolic at baseline) * conditions, medical or psychosocial which makes the subject inclusion inadvisableMALE2024-10-18T00:00:002011-05-042011-05-062013-04-092011-05-092013-04-102011-112013-042013-04trueThis study is done to evaluate whether treatment with the drug sildenafil (Revatio®) can improve muscular, cardiac, cerebrovascular or cognitive function in patients with Beckers muscular dystrophy when compared to placebo (inactive medication). The study is based on the recent findings of an improved cardiac function in a mouse model of muscular dystrophy (Adamo et al 2010) and the previous findings of changed cognitive function in people with Becker dystrophy. In muscular dystrophy, the cellular protein, dystrophin is affected. During normal conditions, the enzyme neuronal nitric oxide synthase (nNOS), which produce nitric oxide (NO), is attached to dystrophin. NO is important in normal vascular function in each of muscle, heart and brain by stimulating production of cyclic GMP. However, in muscular dystrophy with dystrophin deficiency, nNOS do not have the normal cellular anchor, resulting in decreased NO levels and subsequent reduced cyclic GMP production. Sildenafil inhibits degradation of cGMP thus prolonging and increasing a cGMP response. Such effects are the basis for use of sildenafil in pulmonary hypertension and erectile dysfunction. Current hypothesis: Sildenafil restores the cyclic GMP function affected in muscular dystrophy wit nNOS deficiency resulting in improved muscle, cardiac, cerebrovascular and cognitive function.Becker Muscular DystrophyPHASE217Difference in change from baseline to 4 week placebo/sildenafil treatment in handgrip test with concomitant ultrasound measurement of flow in the brachial arteryPrimary outcome for substudy 1Baseline and 4 weeks treatmentDifference in changes from baseline to 4 week placebo/sildenafil treatment in resting cardiac end-diastolic volume measured by MRIPrimary outcome for substudy 2Baseline and 4 week treatmentDifference in changes from baseline to 4 week placebo/sildenafil treatment in cerebrovascular reactivity to CO2 inhalation and finger stimulation measured by BOLD fMRIPrimary outcome for substudy 3Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in Cognitive function measured by Cambridge Neuropsychological Test Automated Battery (CANTAB)Primay outcome for substudy 3Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in 6 minutes walk testSubstudy 1Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in max test, measured by O2 uptake during maximal exercise on bikeSubstudy 1Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in Quality of life by SF36Substudy 1Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in resting cardiac function measured by cardiac MRISubstudy 2. Evaluation of resting cardiac ejection fraction and end-systolic volume.Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in cardiac function during hand grip exercise measured by cardiac MRISubstudy 2. Cardiac volumes and ejection fraction during 1 minute repeated maximal force hand exercise will be measured.Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in cerebrovascular reactivity and blood flowSubstudy 3. fMRI BOLD evaluation of visual stimulation, MRI angiography for arterial diameter, arterial spin labeling for evaluation of cerebral blood flow and blood volumen.Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in basic activity and metabolites of the brainSubstudy 3.Resting state network by fMRI and metabolites in brain regions by MRI spectroskopy.Baseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks placebo/sildenafil treatment in cognitive function measured by paper and pen test batterySubstudy 3. A paper and pen cognitive test battery will be applied, including Trail making A and B, Addenbrooke's Cognitive Examination, Symbol DIgital MOdality testsBaseline and 4 weeks treatmentDifference in changes from baseline to 4 weeks treatment placebo/sildenafil in plasma levels of signalling moleculesSubstudy 3. From blood samples taken at baseline, 4 and 10 weeks, analysis of several signalling molecules relevant for cardiac and cerebrovascular function will be performed.Baseline and 4 weeks treatmentFalse1880FalseFalseFalseFalse NCT022869474658-204Sarepta Therapeutics, Inc.INDUSTRYSafety Study of Eteplirsen to Treat Advanced Stage Duchenne Muscular Dystrophy2020-03COMPLETEDThe primary objective of this study is to explore safety and tolerability of eteplirsen in participants with advanced stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.INTERVENTIONALInclusion Criteria: * Male 7 - 21 years of age * Diagnosis of DMD with a mutation that is amenable to exon 51 skipping, confirmed by a genetic report * Stable dose of oral corticosteroids for at least 24 weeks or has not received corticosteroids for at least 24 weeks * Non-ambulatory, or incapable of walking ≥300 meters on the 6-Minute Walk Test (6MWT). * Score of ≤4 on the Brooke Score for Arms and Shoulders. * Stable cardiac and pulmonary function * Use of contraceptives for sexually active males throughout the study * Willing to provide consent and comply with the study Exclusion Criteria: * Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks that may have an effect on muscle strength or function (e.g., growth hormone, anabolic steroids). * Previous treatment with SMT C1100/BMN 195 at any time. * Previous treatment with drisapersen (PRO051) within the last 6 months. * Participation in any other DMD interventional clinical study within 12 weeks * Major change in physiotherapy regimen within the past 3 months * Major surgery within 3 months * Presence of other clinically significant illness * Use of an aminoglycoside antibiotic within 12 weeks or the need for this antibiotic or statin during study * Forced vital capacity % predicted \[FVC % predicted\] \<40%, or requiring daytime ventilation. * Require antiarrhythmic and/or antidiuretic therapy for heart failure. * Have a left ventricular ejection fraction (LVEF) of \<40%. * Prior or ongoing medical condition that could adversely affect the safety of the patient, make it unlikely that the course of treatment would be completed, or impair the assessment of study results.MALE2024-10-18T00:00:002014-10-302014-11-052020-03-262014-11-102020-03-302014-112017-04-212018-03-23falseTrueFalseThe primary objective of this study is to explore safety and tolerability of eteplirsen in participants with advanced stage Duchenne muscular dystrophy (DMD) who are amenable to exon 51 skipping.Muscular Dystrophy, DuchennePHASE224Number of Participants With Treatment Emergent Adverse EventsAn adverse event (AE) was any untoward medical occurrence in a participant that did not necessarily have a causal relationship with the study drug. A serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; Required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. Treatment-emergent AEs were events that developed or worsened during the on-treatment period (defined as time from first dose of study drug and up to 28 days after last dose of study drug (up to 100 weeks) that were absent before treatment or that worsened relative to pretreatment state. AEs included both serious and non-serious adverse events.From first dose of drug up to 100 weeksNumber of Participants With Potentially Clinically Significant Laboratory AbnormalitiesLaboratory parameters included hematology, clinical chemistry, urinalysis and coagulation. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal findings. Incr=increase; LLN=lower limit of normal; ULN=upper limit of normal; GGT=gamma glutamyl transferaseBaseline up to 100 weeksNumber of Participants With Potentially Clinically Significant Abnormalities in Vital SignsVital sign parameters included systolic blood pressure (SBP), diastolic blood pressure (DBP), heart rate (HR), and body temperature. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal vital sign findings.Baseline up to 100 weeksNumber of Participants With at Least One Potentially Clinically Significant Abnormalities in Physical ExaminationsPhysical examinations, full and brief, were performed by the Investigator, a physician Sub-Investigator, or a Nurse Practitioner (if licensed in the state or province to perform physical examinations). Full physical examinations included examination of general appearance; head, ears, eyes, nose, and throat; heart; lungs; chest; abdomen; skin; lymph nodes; and musculoskeletal and neurological systems. Brief physical examinations included examination of general appearance; head, ears, eyes, nose, and throat; heart; lungs; chest; abdomen; and skin.Baseline up to 100 weeksNumber of Participants With Abnormalities in Electrocardiograms (ECGs)Twelve-lead ECGs and Holter ECGs were performed at a consistent time of day throughout the study. Electrocardiograms were performed only after the patient was in the supine position, resting, and quiet for a minimum of 15 minutes. The ECG was manually reviewed and interpreted by medically qualified personnel using a central vendor according to prespecified criteria. The Investigator reviewed the results of the centrally read ECG report and determined if the findings were clinically significant. Data is only reported for parameters in which at least 1 participant had potentially clinically significant abnormal ECG findings. msec=milliseconds; QTcF=QT interval corrected with Fridericia's methodBaseline up to 100 weeksNumber of Participants With Abnormalities in Echocardiograms (ECHO)Standard, 2-dimensional ECHOs were performed at a consistent time of day throughout the study. The ECHO was reviewed and interpreted by medically qualified personnel using a central vendor according to prespecified criteria. Ejection fraction was noted. The Investigator reviewed the results of the ECHO report and determined if the findings were clinically significant. LEVF=left ventricular ejection fractionBaseline up to 100 weeksFalse721TrueTrueFalseTrue NCT058336333791Fondazione Policlinico Universitario Agostino Gemelli IRCCSOTHERStudy of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations2023-05RECRUITINGImproved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production.OBSERVATIONALInclusion Criteria: - DMD diagnosis confirming a small mutation genotype. Exclusion Criteria: * DMD patient enrolled in other clinical trials using genetic approach * impossibility to perform MRI without sedation * presence of severe cognitive or behavioral problemsMALE2024-10-18T00:00:002023-03-062023-04-172023-05-102023-04-272023-05-152022-03-182023-04-172024-06-30FalseFalseImproved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production.Muscular Dystrophy, Duchenne25Longitudinal Motor changes in 15 DMD boys with different types of small mutations (Group 1)To found in a cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in motor functional assessments including the six minute walking test and the Performance of the Upper Limb.1 yearLongitudinal respiratory changes in 15 DMD boys with different types of small mutations (Group 1)To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in respiratory data using the Peak Expiratory Flow percentage predicted. ,1 yearLongitudinal Muscle MRI changes in 15 DMD boys with different types of small mutations (Group 1)To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in muscle MRI scores1 yearLongitudinal genetic changes in 15 DMD boys with different types of small mutations (Group 1)To found in the same cohort of 15 patients (prospective cohort) with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in genetic test (urinary stem cells for MiRNA study). Genomic DNA exploring the 5 SNPs associated to the LOA will be collected at T0 only1 yearFalse430FalseFalseFalseFalse NCT00839033P080406Assistance Publique - Hôpitaux de ParisOTHEREvaluation of a Mechanical Device During Acute Respiratory Failure in Patients With Neuromuscular Disorders2015-05TERMINATEDThe hypothesis is that a mechanical insufflation-exsufflation (MI-E) is associated with a decrease in the number of intubations and more rapid clinical improvement in children and adults with neuromuscular disease who are admitted for an acute respiratory exacerbation.In this prospective, randomised, multicenter study, 55 patients will be treated with standard treatment and a MI-E, and 55 patients with standard treatment and standard respiratory physiotherapy. The primary objective is the reduction of the number of patients requiring invasive ventilatory support (endotracheal intubation or tracheotomy) in the group treated with MI-E (MI-E group). The main secondary objectives are a reduction in hospital stay and an improvement in clinical condition, dyspnea and respiratory muscle function.INTERVENTIONALInclusion Criteria: Pediatric or adult patients with chronic neuromuscular disorders, such as spinal muscular atrophy, Duchenne muscular dystrophy, other congenital myopathy, or amyotrophic lateral sclerosis (ALS), hospitalized for acute respiratory failure, as defined by: * Persistent bronchial encumbrance (\> 2 days) despite regular treatment in the homecare setting, associated with-Oxygen desaturation on room air, defined by a pulse oximetry (SaO2) \<95%) or * In patients not receiving long-term NPPV: the need to institute NPPV-In patients receiving long-term NPPV: the need to increase the daily length of NPPV by at least 25%. Exclusion Criteria: * Need for immediate intubation (alteration in consciousness, coma, hemodynamic disorders) * Multiple organ failure (e.g., associated cardiac failure) * In adults: respiratory rate \>30/min, pH \< 7.35, PaCO2 \> 50 mm Hg * Facial deformity or anomaly which prevents the use of a mouthpiece or mask * Patients who signed a refusal to be intubated regardless of the progression of their disease * Patients on long-term oxygen therapy * Tracheotomized patients * Patients requiring the use of an intrapulmonary percussive ventilation device during hospitalization * Acute neuromuscular disorder of known or unknown etiology * Associated lung disease such as chronic obstructive pulmonary disease (COPD) * Refusal of patient consent and/or parental consent in the case of a minor * Uncooperative patients * Patients \< 4 years oldALL2024-10-18T00:00:002009-02-062009-02-062015-05-272009-02-092015-05-282009-062011-022011-12falseThe hypothesis is that a mechanical insufflation-exsufflation (MI-E) is associated with a decrease in the number of intubations and more rapid clinical improvement in children and adults with neuromuscular disease who are admitted for an acute respiratory exacerbation.In this prospective, randomised, multicenter study, 55 patients will be treated with standard treatment and a MI-E, and 55 patients with standard treatment and standard respiratory physiotherapy. The primary objective is the reduction of the number of patients requiring invasive ventilatory support (endotracheal intubation or tracheotomy) in the group treated with MI-E (MI-E group). The main secondary objectives are a reduction in hospital stay and an improvement in clinical condition, dyspnea and respiratory muscle function.Duchenne Muscular Dystrophy;Amyotrophic Lateral Sclerosis;Neuromuscular DiseasesPHASE314Reduction of the number of patients requiring invasive ventilatory support in the group treated with MI-E (MI-E group) compared to the group treated with traditional chest physiotherapy without MI-E (Control group).During the treatment phaseDecrease in the length of hospitalization in the intensive care unit (ICU) (if necessary)During the treatment phaseDecrease in the total length of hospitalizationDuring the treatment phaseDecrease in the incidence of bronchoscopy-assisted aspirationDuring the treatment phaseDecrease in the duration of oxygen therapyDuring the treatment phaseDecrease in the daily length of noninvasive positive pressure ventilation (NPPV)During the treatment phaseImprovement in blood gases on room air during hospitalization and improvement of the peak cough flow (PCF)During the treatment phaseImprovement of the vital capacity (VC), maximal inspiratory (PImax) and expiratory (PEmax) pressures, sniff nasal inspiratory pressure (SNIP), peak expiratory flow (PEF) and dyspnea during hospitalizationDuring the treatment phaseDecrease in the number of secondary tracheotomies (for weaning of ventilatory support)During the treatment phaseFalse4FalseFalseFalseFalse