{"help": "https://repository.duchennedatafoundation.org/it/api/3/action/help_show?name=datastore_search", "success": true, "result": {"include_total": true, "limit": 100, "records_format": "objects", "resource_id": "d5215962-0a4f-48f4-a56a-b80c089bc3b6", "total_estimation_threshold": null, "records": [{"_id":1,"NCTID":"NCT02614820","Title":null,"Organization Study ID":null,"Organization Full Name":"General Hospital of Chinese Armed Police Forces","Organization Class":"OTHER","Brief Title":"The Safety, Efficacy and Tolerability of Remote Ischemic Preconditioning as a Therapy to DMD","Status Verified Date":"2015-11-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Background: Duchenne muscular dystrophy (DMD) is an X chromosome recessive hereditary disease and mainly characterized by progressive muscle weakness and atrophy. Glucocorticoid is the only proven effective medicine,while side effects limit its use. Recent studies have shown that the vascular density in the DMD patients' muscle is decreased,so muscle are in ischemic and anoxic. Remote ischemic preconditioning(RIPC) can improve the capable of resistanting ischemia and hypoxia and maybe a potential therapy for DMD patients.\n\nMethods: 100 patients (aged 2 to 6 years)will be divided into two groups(treatment and control groups) randomly. Treatment group will receive an RIPC stimulus (inflation of a blood pressure cuff on the bilateral thighs to 150 mm Hg for four 5-minute intervals) while control group will receive a similar stimulus (inflation of a blood pressure cuff on the bilateral thighs to 40 mm Hg for four 5-minute intervals). Serum kinase level ,Blood levels of myoglobin, Evaluation of motor function(Four steps test;6-minute walking test) and MRI of lower limbs）at 0 days, 3 days, 3months ,6months.\n\nPurpose：\n\n1. To evaluate the safety and tolerability of remote ischemic preconditioning for DMD patients\n2. To identify the effectiveness of remote ischemic preconditioning for DMD patients.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:Genetic analysis of DMD; from 2 to 6 years old ;without other diseases .\n\n\\-\n\nExclusion Criteria: other congenital diseases;upper respiratory infection, gastroenteritis, vaccination, trauma.\n\n\\-","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2015-11-17","Study First Submit QC Date":"2015-11-22","Last Update Submit Date":"2015-11-22","Study First Post Date":"2015-11-25","Last Update Post Date":"2015-11-25","Start Date":"2015-11-01","Primary Completion Date":"2016-07-01","Completion Date":"2016-12-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Background: Duchenne muscular dystrophy (DMD) is an X chromosome recessive hereditary disease and mainly characterized by progressive muscle weakness and atrophy. Glucocorticoid is the only proven effective medicine,while side effects limit its use. Recent studies have shown that the vascular density in the DMD patients' muscle is decreased,so muscle are in ischemic and anoxic. Remote ischemic preconditioning(RIPC) can improve the capable of resistanting ischemia and hypoxia and maybe a potential therapy for DMD patients.\n\nMethods: 100 patients (aged 2 to 6 years)will be divided into two groups(treatment and control groups) randomly. Treatment group will receive an RIPC stimulus (inflation of a blood pressure cuff on the bilateral thighs to 150 mm Hg for four 5-minute intervals) while control group will receive a similar stimulus (inflation of a blood pressure cuff on the bilateral thighs to 40 mm Hg for four 5-minute intervals). Serum kinase level ,Blood levels of myoglobin, Evaluation of motor function(Four steps test;6-minute walking test) and MRI of lower limbs）at 0 days, 3 days, 3months ,6months.\n\nPurpose：\n\n1. To evaluate the safety and tolerability of remote ischemic preconditioning for DMD patients\n2. To identify the effectiveness of remote ischemic preconditioning for DMD patients.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["NA"],"Enrollment Count":100,"Primary Outcome Measure":[{"measure": "Serum CK value", "timeFrame": "0 day"}, {"measure": "Serum CK value", "timeFrame": "3 days"}, {"measure": "Serum CK value", "timeFrame": "3 months"}, {"measure": "Serum CK value", "timeFrame": "6 months"}, {"measure": "Serum myoglobin values", "timeFrame": "0 day"}, {"measure": "Serum myoglobin values", "timeFrame": "3 days"}],"Secondary Outcome Measure":[{"measure": "Serum myoglobin values", "timeFrame": "3 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":6,"Interventions":[{"type": "PROCEDURE", "name": "Remote Ischemic Preconditioning Training Apparatus", "armGroupLabels": ["control group", "treatment group"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":2,"NCTID":"NCT07423026","Title":"TODDLER Study: Transforming Outcomes in Duchenne Muscular Dystrophy Using DigitaL Endpoints Remotely","Organization Study ID":null,"Organization Full Name":"University of Oxford","Organization Class":"OTHER","Brief Title":"A Remote Study Using Technology to Assess Outcomes in DMD","Status Verified Date":"2025-12-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin. They become weaker as they get older and lose the ability to walk as teenagers. This is a life-limiting condition. There is no cure, but medicines are being made that could help these boys make dystrophin. These medicines are most likely to work best in toddlers, before their muscles become damaged.\n\nThere is no way of testing these medicines in children under four. In older children, it is possible to measure how well and how quickly a child can do movements like sitting up, standing up, and running. Unfortunately, these tests are not suitable for toddlers as they often struggle to listen and do what they are asked to do. Tiredness and mood can also affect their scores. Luckily, there is a new way of testing how well children move. They can wear special watch-like devices on their ankles that record information about their steps as they go about their normal lives. This is a good way of testing how well a child walks. It is now used to test medicines in children over four years old. Our aim is to test whether this device works well in children under four.\n\nThis study will invite 30 boys with DMD (and their parent/caregiver) and 30 boys without DMD aged 1-3 years old from across the country to join the study. There are no hospital visits. Children will receive the watch-like devices to wear for three blocks of 28-days over six months during their normal daily activities. At the start and end of the study, a physiotherapist will visit the homes of boys with DMD. They will check their movements using other tests. The investigators will find out 1) if young boys are happy to wear the device, 2) how it compares to other tests, and 3) if it can detect changes in walking ability.\n\nThis study could give us a way to test medicines in younger children. Wearable devices could cut down the travel and stress of tests for boys and their families. Children with learning or behavioural difficulties, and children living far from research centres could now also take part in studies of new medicines. This study could bring us a step closer to treating this life-limiting disease.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nParticipant with DMD:\n\n* Male\n* Aged 1-3 years old\n* Ambulant (walking 10m independently)\n* Genetically confirmed diagnosis of DMD\n* Parent(s)/legal guardian(s) able and willing to provide written informed consent for the child to participate in the study\n* Parent(s)/legal guardian(s) able and willing to participate in the study\n\nParent/legal guardian of participant with DMD:\n\n* Aged 18 years or more\n* Legal carer of the patient diagnosed with DMD\n* Willingness to follow study procedures and assist with remote assessments, as assessed by the research team\n* Willingness to sign the consent form\n* Ability to understand all the information with regards to the study, as assessed by the research team\n\nHealthy Control participant:\n\n* Male\n* Aged 1-3 years old\n* Ambulant (walking 10m independently)\n* Parent(s)/legal guardian\n\nExclusion Criteria:\n\nParticipant with DMD:\n\n* Limb surgery/trauma (within 6 months)\n* Significant comorbid chronic or acute conditions affecting motor function (within 3 weeks)\n* Prematurity (born \\<37 weeks' gestation)\n* Oral corticosteroids to treat DMD (before enrolment)\n* Enrolment in therapeutic clinical trials\n* Any comorbidity which could limit their ability to complete the study assessments (according to the investigator's clinical judgement)\n\nHealthy Control participant:\n\n* Limb surgery/trauma (within 6 months)\n* Significant comorbid chronic condition affecting motor function\n* Significant acute condition affecting motor function (within 3weeks of enrolment)\n* Prematurity (born \\<37 weeks' gestation)\n* Neurodevelopmental concerns or delay in acquisition of WHO developmental milestones.\n* Any comorbidity which could limit their ability to complete the study assessments (according to the investigator's clinical judgement).","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-01-05","Study First Submit QC Date":"2026-02-12","Last Update Submit Date":"2026-06-09","Study First Post Date":"2026-02-20","Last Update Post Date":"2026-06-10","Start Date":"2026-06-24","Primary Completion Date":"2027-10-01","Completion Date":"2028-07-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin. They become weaker as they get older and lose the ability to walk as teenagers. This is a life-limiting condition. There is no cure, but medicines are being made that could help these boys make dystrophin. These medicines are most likely to work best in toddlers, before their muscles become damaged.\n\nThere is no way of testing these medicines in children under four. In older children, it is possible to measure how well and how quickly a child can do movements like sitting up, standing up, and running. Unfortunately, these tests are not suitable for toddlers as they often struggle to listen and do what they are asked to do. Tiredness and mood can also affect their scores. Luckily, there is a new way of testing how well children move. They can wear special watch-like devices on their ankles that record information about their steps as they go about their normal lives. This is a good way of testing how well a child walks. It is now used to test medicines in children over four years old. Our aim is to test whether this device works well in children under four.\n\nThis study will invite 30 boys with DMD (and their parent/caregiver) and 30 boys without DMD aged 1-3 years old from across the country to join the study. There are no hospital visits. Children will receive the watch-like devices to wear for three blocks of 28-days over six months during their normal daily activities. At the start and end of the study, a physiotherapist will visit the homes of boys with DMD. They will check their movements using other tests. The investigators will find out 1) if young boys are happy to wear the device, 2) how it compares to other tests, and 3) if it can detect changes in walking ability.\n\nThis study could give us a way to test medicines in younger children. Wearable devices could cut down the travel and stress of tests for boys and their families. Children with learning or behavioural difficulties, and children living far from research centres could now also take part in studies of new medicines. This study could bring us a step closer to treating this life-limiting disease.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":60,"Primary Outcome Measure":[{"measure": "To assess the within-patient variability in SV95C using the Syde device to remotely assess motor function in boys with DMD under the age of four.", "description": "Within-patient variability in SV95C will be measured over 2 periods of 28 days using the Syde device on both ankles.", "timeFrame": "Syde recording periods of 28 days at baseline, 1 month and 6 months."}, {"measure": "To assess the test-retest reliability of the Syde device to remotely assess motor function in boys with DMD under the age of four.", "description": "Test-retest reliability will be measured using intra-class correlation coefficient (ICC) of consecutive measurements of SV95C.", "timeFrame": "Two consecutive 28-day Syde recording periods at baseline and 1 month."}, {"measure": "To assess compliance with the Syde device in boys with DMD under the age of four.", "description": "Compliance will be measured by percentage of participants completing minimum recording period of the Syde device.", "timeFrame": "Syde recording periods of 28 days at baseline, 1 month and 6 months."}, {"measure": "To assess the acceptability of using the Syde device in boys with DMD under the age of four.", "description": "Acceptability will be measured using the device acceptability questionnaire for Syde device.", "timeFrame": "End of baseline and 6 month Syde recording periods."}],"Secondary Outcome Measure":[{"measure": "To investigate whether SV95C recordings from the Syde device can distinguish boys with DMD from controls.", "description": "Construct validity will be measured by the difference in SV95C between DMD and controls using the Syde device.", "timeFrame": "28-day Syde recording periods at baseline, 1 month and 6 months."}, {"measure": "To assess correlation between SV95C as measure by the Syde device and other motor assessment and parent-reported outcomes.", "description": "Convergent validity will by measure by correlation between SV95C, NSAA, gross motor domain of Bayley Scale of Infant Development-4, and parent-reported outcomes.", "timeFrame": "Month 1 and month 6 assessments."}, {"measure": "To assess impact of cognitive, behavioural, and language impairment on SV95C and other motor assessments.", "description": "Association between cognitive, behavioural, and language domains of Bayley Scale of Infant Development-4 and NSAA and SV95C.", "timeFrame": "Month 1 and Month 6 assessments."}, {"measure": "To determine the sensitivity of SV95C to change.", "description": "6-month change in SV95C in boys with DMD compared to controls.", "timeFrame": "Baseline and Month 6 Syde recording periods."}, {"measure": "To assess the validity of remote online functional motor assessment using NSAA.", "description": "Reproducibility between remote online and in-person home assessment of the North Star Ambulatory Assessment.", "timeFrame": "Remote and in-person NSAA assessments at 1 month and 6 months."}],"Healthy Volunteers":true,"Minimum Age (Years)":1,"Maximum Age (Years)":3,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":3,"NCTID":"NCT04281485","Title":"A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY","Organization Study ID":null,"Organization Full Name":"Pfizer","Organization Class":"INDUSTRY","Brief Title":"Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key inclusion criteria:\n\n1. Confirmed diagnosis of Duchenne muscular dystrophy by prior genetic testing\n2. 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\n3. Ambulatory, as assessed by protocol-specified criteria\n\nKey exclusion criteria:\n\n1. Positive test performed by Pfizer for neutralizing antibodies to AAV9\n2. Any treatment designed to increase dystrophin expression within 6 months prior to screening (e.g., Translarna™, EXONDYS 51™, VYONDYS 53™)\n3. Any prior treatment with gene therapy\n4. Any non-healed injury that may impact functional testing (eg NSAA)\n5. Abnormality in specified laboratory tests, including blood counts, liver and kidney function\n6. Any of the following genetic abnormalities in the dystrophin gene:\n\n   1. Any mutation (exon deletion, exon duplication, insertion, or point mutation) affecting any exon between exon 9 and exon 13, inclusive; OR\n   2. A deletion that affects both exon 29 and exon 30;OR\n   3. A deletion that affects any exons between 56-71, inclusive.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2020-02-11","Study First Submit QC Date":"2020-02-20","Last Update Submit Date":"2026-02-16","Study First Post Date":"2020-02-24","Last Update Post Date":"2026-03-02","Start Date":"2020-11-05","Primary Completion Date":"2024-05-15","Completion Date":"2039-04-15","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":114,"Primary Outcome Measure":[{"measure": "Change From Baseline in North Star Ambulatory Assessment (NSAA) Total Score at Week 52", "description": "The NSAA was a 17-item test that graded performance of various functional skills using the following scale: 0 (unable to achieve independently), 1 (modified method but achieves goal independent of physical assistance from another), and 2 (\"normal\"- no obvious modification of activity). Total score was calculated as the sum of all 17 individual item responses and ranged from 0 (worst) to 34 (fully independent function) with higher scores indicating better function. Baseline NSAA total score is defined as the last non-missing NSAA total score collected prior to Year 1 drug administration.", "timeFrame": "Baseline, Week 52"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in Percent Normal Dystrophin Expression Level in Muscle Biopsies by Liquid Chromatography Mass Spectrometry (LC-MS) Based on LLQV Peptide at Week 52", "description": "The LC-MS assay measured the LLQVAVEDR (LLQV) peptide that detected full-length endogenous dystrophin as well as the mini-dystrophin transgene protein.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Percent of Muscle Fibers Expressing Mini-Dystrophin in Muscle Biopsies by Immunofluorescence at Week 52", "description": "Muscle fibers expressing mini-dystrophin transgene protein were evaluated by immunofluorescent staining using the mini-dystrophin specific antibody which only recognized the mini-dystrophin transgene protein.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Serum Creatine Kinase (CK) Concentration at Week 52", "description": "The CK results were analyzed by the central laboratory.", "timeFrame": "Baseline, Week 52"}, {"measure": "Least Square Mean of Proportion of Skills Gained Based on the Individual Items of the NSAA at Week 52", "description": "Proportion of skills gained at Week 52 were expressed as a proportion of the number of skills at Baseline that could be gained (numerator was number of items on NSAA gained at Week 52, with response 1 or 2 and denominator was number of items on NSAA with score 0 at baseline). The NSAA was a 17-item test that graded performance of various functional skills using the following scale: 0 (unable to achieve independently), 1 (modified method but achieves goal independent of physical assistance from another), and 2 (\"normal\"- no obvious modification of activity). Total score was calculated as the sum of all 17 individual item responses and ranged from 0 (worst) to 34 (fully independent function) with higher scores indicating better function.", "timeFrame": "Baseline, Week 52"}, {"measure": "Least Square Mean of Proportion of Skills Either Improved or Maintained Based on the Individual Items of the NSAA at Week 52", "description": "Proportion of skills either improved or maintained at Week 52 was expressed as a proportion of the number of items at Baseline that could be improved or maintained (numerator was the number of items on NSAA improved or maintained at Week 52 and denominator is number of items on NSAA which is 17). The NSAA was a 17-item test that graded performance of various functional skills using the following scale: 0 (unable to achieve independently), 1 (modified method but achieves goal independent of physical assistance from another), and 2 (\"normal\"- no obvious modification of activity). Total score was calculated as the sum of all 17 individual item responses and ranged from 0 (worst) to 34 (fully independent function) with higher scores indicating better function.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in 10 Meter Run/Walk Velocity at Week 52", "description": "Velocity was calculated based on the time it took to complete the 10-meter run/walk test.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Week 52", "description": "Velocity was calculated based on the time it took to rise from floor.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Modified Pediatric Outcome Data Collection Instrument (PODCI)- Transfer and Basic Mobility Core Scale at Week 52", "description": "Modified PODCI- transfer and basic mobility core scale (parent of pediatric participant) consisted of 11 items that assessed how caregivers of participants evaluated a participant's ability to walk, stand, and perform activities of daily living. The scale produced an independent, standardized score ranging from 0-100, with lower scores representing lower levels of function.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Modified PODCI- Sports and Physical Functioning Core Scale at Week 52", "description": "Modified PODCI- sports and physical functioning core scale (parent of pediatric participant) consisted of 21 items that assessed how caregivers of participants evaluated a participant's ability to perform recreational activities. The scale produced an independent, standardized score ranging from 0-100, with lower scores representing lower levels of function.", "timeFrame": "Baseline, Week 52"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":7,"Interventions":[{"type": "GENETIC", "name": "PF-06939926", "description": "PF-06939926 will be administered as a single IV infusion at Year 1 for Cohort 1.", "armGroupLabels": ["Cohort 1"]}, {"type": "OTHER", "name": "Placebo", "description": "Placebo will be administered as a single IV infusion at Year 1 for Cohort 2.", "armGroupLabels": ["Cohort 2"]}, {"type": "OTHER", "name": "Placebo", "description": "Placebo will be administered as a single IV infusion at Year 2 for Cohort 1.", "armGroupLabels": ["Cohort 1"]}, {"type": "GENETIC", "name": "PF-06939926", "description": "PF-06939926 will be administered as a single IV infusion at Year 2 for Cohort 2", "armGroupLabels": ["Cohort 2"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[9, 10, 11, 12, 13, 29, 30, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71],"Exons Eligible":[],"Exons Non Eligible":[9, 10, 11, 12, 13, 29, 30, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71],"Exons to be skipped":[],"PubMed IDs":["41722591"],"See Also Links":["https://pmiform.com/clinical-trial-info-request?StudyID=C3391003"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Gene Replacement Therapy"},{"_id":4,"NCTID":"NCT03882827","Title":"A Prospective, Interventional, Baseline Study In Young Male Subjects Aged From 4 to 9 Years","Organization Study ID":null,"Organization Full Name":"Genethon","Organization Class":"OTHER","Brief Title":"Natural History of Duchenne Muscular Dystrophy","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"Baseline 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 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Male\n2. 4 to 9 years old inclusive\n3. Body-weight ≤ 95th percentile or the BMI scale ≤ 95th percentile (according to validated scale in force in country site).\n\n   Related to the DMD disease:\n4. Diagnosis of DMD based upon documented gene testing with detailed genotyping\n5. Able to achieve at inclusion and screening visits:\n\n   1. NSAA (North Star Ambulatory Assessment) scale \\> 18 or ≥ 16 if participant is between 4 and \\< 5 years old at screening and:\n   2. Gowers test \\< or = 7 sec and/or\n   3. 6-Minute Walk Test (6MWT): a distance ≥ 350 meters at inclusion visit (M0)\n6. Ongoing corticosteroid therapy or initiation of corticosteroid therapy according to standard of care prior to Screening visit\n\n   Related to the study protocol and ICH/GCP (Good Clinical Practice) requirements:\n7. Signed informed consent by at least one parent or both parents or legal guardian representative(s), when applicable and according to the country regulation\n8. Affiliated to or a beneficiary of a Health Care scheme (according to country regulation)\n\n   Exclusion Criteria:\n\n   Subject will be excluded from enrolment into the study for any of the following reasons:\n\n   Related to the DMD disease severity:\n9. Cardiomyopathy based on physical/cardiological examination and echocardiography with Left Ventricular Simpson biplane Ejection Fraction (LVEF) below 55%\n10. Respiratory Assistance: need for either a diurnal and/or a nocturnal ventilation\n11. 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\n\n    Related to specific assessments:\n12. Muscle testing: inability to cooperate with\n13. MRI: metal implants in regions of interest for the study\n\n    Related to the study protocol and ICH/GCP requirements:\n14. Unwilling and/or unable to comply with all the study protocol requirements and/or procedures\n15. Previous inclusion to another clinical trial with an Investigational Medicinal Product (IMP), within the 3 months or IMP washout period (whichever is longer) prior to the screening visit of the study\n16. Previously treated with a gene therapy drug for DMD, such as:\n\n    * any AAV mediated gene transfer products or any gene editing products in a clinical trial or in a clinical setting,\n    * if exons skipping drug was used, the last dose of exon skipping drug within 5 half-lives prior to the screening visit\n17. Concomitant participation to any other interventional clinical trial","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-03-18","Study First Submit QC Date":"2019-03-19","Last Update Submit Date":"2026-02-10","Study First Post Date":"2019-03-20","Last Update Post Date":"2026-02-12","Start Date":"2019-12-19","Primary Completion Date":"2029-05-30","Completion Date":"2029-09-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Baseline 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 4 to 9 Years over a period of 6 to 36 months using disease appropriate evaluations.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":220,"Primary Outcome Measure":[{"measure": "NSAA scale", "description": "NSAA scale (age appropriate modified North Star Ambulatory Assessment)", "timeFrame": "Screening 36 months"}, {"measure": "10 Meter Walk/ Run test (10MW/RT)", "description": "Time function Test", "timeFrame": "Screening 36 months"}, {"measure": "Raise from floor (RFF)", "description": "Time function test", "timeFrame": "Screening - 36 months"}, {"measure": "6 Minutes Walk Test (6 MWT)", "description": "Motor Function Measurement", "timeFrame": "Inclusion 36 months"}, {"measure": "Myoset : Myo-grip, -pinch", "description": "Motor Function Measurement", "timeFrame": "Inclusion 36 months"}, {"measure": "Stride velocity 95th centile (SV95c)", "description": "Motor Function Measurement with wearable device (SYDE)", "timeFrame": "Inclusion 36 months"}, {"measure": "Muscle Imaging Nuclear Magnetic Resonance Imaging (NMRI)", "description": "Muscle Imaging", "timeFrame": "Inclusion 36 months"}, {"measure": "Pulmonary Function Test (PFT)", "description": "Respiratory Function Assessment", "timeFrame": "Inclusion 36 months"}, {"measure": "ECG - Echocardiography", "description": "Cardiac Function Assessment", "timeFrame": "Inclusion 36 months"}, {"measure": "ACTIVLIM", "description": "Patient Reported Outcome", "timeFrame": "Inclusion 36 months"}, {"measure": "EQ-5D", "description": "Questionnaire of Life", "timeFrame": "Inclusion 36 months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":9,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":5,"NCTID":"NCT05249361","Title":"Correlation Between Functional Capacity and Functional Capability in Patients With Duchenne Muscular Dystrophy-A Longitudinal Study","Organization Study ID":null,"Organization Full Name":"Samsung Medical Center","Organization Class":"OTHER","Brief Title":"Correlation Between Functional Capacity and Functional Capability in Duchenne Muscular Dystrophy","Status Verified Date":"2023-11-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This study investigates the correlation between assessments measuring functional capacity and functional capability in patients with Duchenne muscular dystrophy.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Children aged 5 to 18 years diagnosed with Duchenne muscular dystrophy through genetic testing\n2. Children who understand the contents of this research and can properly conduct the research\n\nExclusion Criteria:\n\n1. Requiring daytime ventilator assistance or using invasive mechanical ventilation through tracheostomy (Non-invasive mechanical ventilation such as positive pressure ventilation at night is allowed)\n2. History of peripheral nerve damage\n3. History of major surgery within 12 weeks or if major surgery is expected during the test period\n4. History of central nervous system disorders (eg, cerebral infarction, spinal cord injury)\n5. Having difficulties in conducting this study due to cognitive decline.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-02-10","Study First Submit QC Date":"2022-02-10","Last Update Submit Date":"2023-11-23","Study First Post Date":"2022-02-21","Last Update Post Date":"2023-11-29","Start Date":"2023-05-01","Primary Completion Date":"2025-04-01","Completion Date":"2025-10-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study investigates the correlation between assessments measuring functional capacity and functional capability in patients with Duchenne muscular dystrophy.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":48,"Primary Outcome Measure":[{"measure": "Correlation between physical activity(VM) and muscle quantitative index", "description": "We 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.\n\nThe 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.", "timeFrame": "Baseline up to Week 48"}],"Secondary Outcome Measure":[{"measure": "Correlation between physical activity and Vignos scale", "description": "We 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-bound", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and Brooke scale", "description": "We 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and 6MWT(6-minute walking test)", "description": "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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and NSAA(The North Star Ambulatory Assessment)", "description": "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.\n\nEach 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.\n\nA 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and PUL(Performance of Upper Limb module for DMD)", "description": "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.\n\nThe 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and PEDI-CAT(the Pediatric Evaluation of Disability Inventory-Computer Adaptive Test)", "description": "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.\n\nTe 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and EQ-5D(EuroQol-5D)", "description": "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.\n\nEuroQol 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and CHQ-PF50(Child Health Questionnaire - Parent form 50 )", "description": "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.\n\nThe 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and quantitative muscle ultrasonography", "description": "We 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).", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and DMD upper limb PROM", "description": "We 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.", "timeFrame": "Baseline up to Week 48"}, {"measure": "Correlation between physical activity and Pulmonary function test", "description": "We 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).", "timeFrame": "Baseline up to Week 48"}],"Healthy Volunteers":null,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "no intervention", "description": "no intervention", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["40671379"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":6,"NCTID":"NCT00451074","Title":"A Six Month Randomized, Clinical Trial of Gentamicin in Duchenne Muscular Dystrophy Subjects With Stop Codon Mutations","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"Six Month Study of Gentamicin in Duchenne Muscular Dystrophy With Stop Codons","Status Verified Date":"2012-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Age 5-20 years\n* Duchenne muscular dystrophy documented by written report of stop codon mutation analysis of the dystrophin gene.\n* Subject is capable of cooperating for efficacy and safety testing\n* Absent dystrophin on muscle biopsy\n* Subjects may be untreated, taking prednisone or comparable corticosteroids\n* Subjects taking corticosteroids must be on the same dose for at least 3 months (90 days) prior to the start of the study.\n\nExclusion Criteria:\n\n* Known allergy to any aminoglycoside or sulfate compounds\n* Current use of potential nephrotoxic or ototoxic drug\n* Current use of corticosteroids has not been stable for 3 months (90) days\n* 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.\n* Inability to hear within the range of 0 to 25 dB in any hearing frequency by pure tone audiometry\n* Cystatin C equal to or \\> 1.4mg/L\n* Other medical condition that would impede the conduct of study (e.g., congestive heart failure)","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2007-03-21","Study First Submit QC Date":"2007-03-21","Last Update Submit Date":"2012-03-22","Study First Post Date":"2007-03-23","Last Update Post Date":"2012-03-23","Start Date":"2007-03-01","Primary Completion Date":"2009-07-01","Completion Date":"2009-07-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "In 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.", "timeFrame": "6 months"}],"Secondary Outcome Measure":[{"measure": "Determine if gentamicin given over six months improves muscle strength.", "timeFrame": "6 months"}, {"measure": "Determine if gentamicin given over six months increases dystrophin binding at the muscle membrane.", "timeFrame": "6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":20,"Interventions":[{"type": "DRUG", "name": "Gentamicin infusions twice a week for six months", "description": "Gentamicin infusions twice a week"}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["21179598", "20517938"],"See Also Links":["http://www.nationwidechildrens.org/center-for-gene-therapy"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":7,"NCTID":"NCT06539169","Title":"FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases","Organization Study ID":null,"Organization Full Name":"xCures","Organization Class":"INDUSTRY","Brief Title":"FLOWER: Following Longitudinal Outcomes With Epidemiology for Rare Diseases","Status Verified Date":"2024-08-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"FLOWER 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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:\n\nAlpha- 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)\n\n\\- 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\n\nExclusion Criteria:\n\n* Patient or LAR is unable to provide informed consent.\n* Patient resides in a country other than the United States and is unable to provide access to medical records.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-08-01","Study First Submit QC Date":"2024-08-01","Last Update Submit Date":"2024-11-12","Study First Post Date":"2024-08-06","Last Update Post Date":"2024-11-14","Start Date":"2024-06-10","Primary Completion Date":"2026-06-10","Completion Date":"2026-06-10","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"FLOWER 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.","Conditions":"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 Diseases","Phases":null,"Enrollment Count":1000,"Primary Outcome Measure":[{"measure": "Overall Survival (OS)", "timeFrame": "5 Years"}, {"measure": "Safety/tolerability of medications", "timeFrame": "5 years"}, {"measure": "Changes in normal development milestones", "timeFrame": "5 years"}, {"measure": "Changes in functional status", "timeFrame": "5 years"}, {"measure": "Changes in motor function", "timeFrame": "5 years"}, {"measure": "Changes in symptoms or clinical status", "timeFrame": "5 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":8,"NCTID":"NCT04004065","Title":"A Phase 2, Two-Part, Multiple-Ascending-Dose Study of SRP-5051 for Dose Determination, Then Dose Expansion, in Patients With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Two-Part Study for Dose Determination of Vesleteplirsen (SRP-5051) (Part A), Then Dose Expansion (Part B) in Participants With Duchenne Muscular Dystrophy Amenable to Exon 51-Skipping Treatment","Status Verified Date":"2025-03-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria for participants previously treated with Vesleteplirsen:\n\n\\- Has received prior Vesleteplirsen treatment in Part A of this study or in Study 5051-102.\n\nExclusion Criteria for participants previously treated with Vesleteplirsen and new participants enrolling into Part B:\n\n\\- 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.\n\nInclusion Criteria for treatment-naïve participants enrolling into Part B:\n\n* 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.\n* 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.\n* Has stable pulmonary function (forced vital capacity \\[FVC\\] ≥40% of predicted and no requirement for nocturnal ventilation).\n\nExclusion Criteria for treatment-naive participants enrolling into Part B:\n\n* History of hypomagnesemia within 12 weeks prior to Screening.\n* 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.\n* 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.\n* 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.\n* 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.\n\nOther inclusion/exclusion criteria apply.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-06-27","Study First Submit QC Date":"2019-06-27","Last Update Submit Date":"2025-03-06","Study First Post Date":"2019-07-01","Last Update Post Date":"2025-03-10","Start Date":"2019-06-26","Primary Completion Date":"2023-10-30","Completion Date":"2025-02-07","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":62,"Primary Outcome Measure":[{"measure": "Part A: Incidence of Adverse Events (AEs)", "timeFrame": "Part A: Baseline up to 75 weeks"}, {"measure": "Part B: Change From Baseline in Dystrophin Protein Level at Week 28", "timeFrame": "Part B: Baseline, Week 28"}],"Secondary Outcome Measure":[{"measure": "Part A: Pharmacokinetics (PK): Plasma Concentration of Vesleteplirsen", "timeFrame": "Pre-dose and at multiple time points (up to 32 hours) after end of infusion"}, {"measure": "Part A: PK: Urine Concentration of Vesleteplirsen", "timeFrame": "Pre-dose and at multiple time periods (up to 48 hours) after end of infusion"}, {"measure": "Part B: Change From Baseline in Exon-Skipping Levels at Week 28", "timeFrame": "Part B: Baseline, Week 28"}, {"measure": "Part B: Incidence of Adverse Events (AEs)", "timeFrame": "Part B: Baseline up to Week 304"}, {"measure": "Part B: PK: Plasma Concentration of Vesleteplirsen", "timeFrame": "Part B predose and at multiple timepoints (up to 48 hours) after end of infusion"}, {"measure": "Part B: PK: Urine Concentration of Vesleteplirsen", "timeFrame": "Part B predose and at multiple timepoints (up to 48 hours) after end of infusion"}, {"measure": "Part B: Change from Baseline in Percent Dystrophin-Positive Fibers (PDPF) and Mean Intensity, as Measured by Immunofluorescence Assay at Week 28", "timeFrame": "Part B: Baseline, Week 28"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":21,"Interventions":[{"type": "DRUG", "name": "Vesleteplirsen", "description": "Vesleteplirsen injection, for IV use", "armGroupLabels": ["Part A: Vesleteplirsen", "Part B: Vesleteplirsen"], "otherNames": ["SRP-5051"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[51],"Exons Eligible":[51],"Exons Non Eligible":[],"Exons to be skipped":[51],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":9,"NCTID":"NCT02847975","Title":"Sodium Nitrate to Improve Blood Flow","Organization Study ID":null,"Organization Full Name":"Cedars-Sinai Medical Center","Organization Class":"OTHER","Brief Title":"Sodium Nitrate to Improve Blood Flow","Status Verified Date":"2018-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Investigators 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Becker muscular dystrophy\n* age 15-55 years of age\n* ambulatory\n\nExclusion Criteria:\n\n* hypertension, diabetes, or heart failure by standard clinical criteria\n* elevated brain natriuretic peptide level (\\>100 pg/ml)\n* Left ventricular ejection fraction \\< 50%\n* cardiac rhythm disorder, specifically: rhythm other than sinus, supraventricular tachycardia, atrial fibrillation, ventricular tachycardia, heart block\n* continuous ventilatory support\n* liver disease\n* renal impairment\n* history of asthma or bronchospasm\n* use of any medications other than common supplements\n* unable to perform handgrip exercise","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-04-30","Study First Submit QC Date":"2016-07-25","Last Update Submit Date":"2018-08-02","Study First Post Date":"2016-07-28","Last Update Post Date":"2018-08-06","Start Date":"2013-10-01","Primary Completion Date":"2014-12-01","Completion Date":"2014-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Investigators 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.","Conditions":"Becker Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":11,"Primary Outcome Measure":[{"measure": "change in muscle tissue oxygenation", "description": "The pre-specified primary outcome is the pre vs. post treatment change in functional sympatholysis measured by muscle oxygenation.", "timeFrame": "change from baseline to post treatment (3-4 hours)"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":15,"Maximum Age (Years)":55,"Interventions":[{"type": "DIETARY_SUPPLEMENT", "name": "Sodium nitrate", "description": "Sodium nitrate will be ingested orally", "armGroupLabels": ["Sodium nitrate"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["23197572"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":10,"NCTID":"NCT07515235","Title":"Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study","Organization Study ID":null,"Organization Full Name":"Aristotle University Of Thessaloniki","Organization Class":"OTHER","Brief Title":"DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male sex\n* Age between 2 and 24 years at the time of enrollment\n* Genetically confirmed dystrophinopathy with a pathogenic or likely pathogenic variant in the DMD gene\n* Genetic confirmation based on at least one validated method, including MLPA, NGS, Sanger sequencing, array-CGH, or qPCR\n* Written informed consent from parents or legal guardians and, where applicable, consent from the participant\n\nExclusion Criteria:\n\n* Absence of a genetically confirmed diagnosis of dystrophinopathy, including:\n* diagnosis based solely on muscle biopsy without molecular confirmation of a pathogenic or likely pathogenic DMD gene variant\n* absence of a confirmed pathogenic variant in the DMD gene, even if maternal carrier status has been identified, unless repeat genetic testing confirms a pathogenic variant in the participant\n* Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy\n* Presence of other neuromuscular disorders\n* Female carriers, including both manifesting and asymptomatic carriers\n* Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-03-20","Study First Submit QC Date":"2026-03-31","Last Update Submit Date":"2026-03-31","Study First Post Date":"2026-04-07","Last Update Post Date":"2026-04-07","Start Date":"2026-01-26","Primary Completion Date":"2028-01-01","Completion Date":"2028-02-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).","Conditions":"Duchenne Muscular Dystrophy (DMD);Becker Muscular Dystrophy;Cardiomyopathy","Phases":null,"Enrollment Count":65,"Primary Outcome Measure":[{"measure": "Correlation between pathogenic DMD gene variants and left ventricular ejection fraction (EF)", "description": "Correlation between the type, location, and extent of pathogenic variants in the DMD gene and left ventricular ejection fraction (%), measured using the Simpson's biplane method by transthoracic echocardiography.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Correlation between pathogenic DMD gene variants and global longitudinal strain (GLS)", "description": "Correlation between the type, location, and extent of pathogenic variants in the DMD gene and global longitudinal strain (%), derived from speckle-tracking echocardiography and measured offline from recorded echocardiographic images.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Correlation between pathogenic DMD gene variants and blood levels of high-sensitivity troponin T (hs-TnT)", "description": "Correlation between the type, location, and extent of pathogenic variants in the DMD gene and blood levels of high-sensitivity troponin T (pg/mL), measured from venous blood samples.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Correlation between pathogenic DMD gene variants and blood levels of N-terminal pro-brain natriuretic peptide (NT-proBNP)", "description": "Correlation between the type, location, and extent of pathogenic variants in the DMD gene and blood levels of N-terminal pro-brain natriuretic peptide (pg/mL), measured from venous blood samples.", "timeFrame": "On the day of the baseline assessment"}],"Secondary Outcome Measure":[{"measure": "Frequency of electrocardiographic abnormalities in participants with and without cardiac dysfunction", "description": "Frequency (%) of electrocardiographic abnormalities, including rhythm disturbances, conduction abnormalities, and repolarization changes, compared between participants with and without cardiac dysfunction, as assessed by electrocardiography.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Blood levels of high-sensitivity troponin T in participants with and without cardiac dysfunction", "description": "Blood levels of high-sensitivity troponin T (hs-TnT), measured in pg/mL from venous blood samples, compared between participants with and without cardiac dysfunction.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Blood levels of NT-proBNP in participants with and without cardiac dysfunction", "description": "Blood levels of N-terminal pro-brain natriuretic peptide (NT-proBNP), measured in pg/mL from venous blood samples, compared between participants with and without cardiac dysfunction.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Correlation between age and the presence of cardiac dysfunction", "description": "Correlation between age (years) and the presence of cardiac dysfunction, based on echocardiographic criteria.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Ongoing pharmacological treatment in participants with and without cardiac dysfunction", "description": "Proportion (%) of participants receiving ongoing pharmacological treatment, compared between participants with and without cardiac dysfunction.", "timeFrame": "On the day of the baseline assessment"}, {"measure": "Non-HDL cholesterol levels in participants with and without cardiac dysfunction", "description": "Non-HDL cholesterol levels (mg/dL) compared between participants with and without cardiac dysfunction.", "timeFrame": "On the day of the baseline assessment"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":24,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":11,"NCTID":"NCT06540365","Title":"Feasibility and Effectiveness of the Pathways and Resources for Engagement and Participation Protocol Among Youth and Young Adults With Duchenne and Becker Muscle Dystrophies- A Pilot Study","Organization Study ID":null,"Organization Full Name":"University of Haifa","Organization Class":"OTHER","Brief Title":"Applying the Pathways and Resources for Engagement and Participation Protocol Among People With Muscles Dystrophies","Status Verified Date":"2024-08-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"Taking 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.\n\nThis 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.\n\nThey 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* diagnosed with DBMD\n* aged 14-30 years\n* from any sector of Israeli society.\n\nExclusion Criteria:\n\n* have previously received the PREP intervention","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-08-01","Study First Submit QC Date":"2024-08-05","Last Update Submit Date":"2024-08-05","Study First Post Date":"2024-08-06","Last Update Post Date":"2024-08-06","Start Date":"2024-08-01","Primary Completion Date":"2025-02-01","Completion Date":"2025-02-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Taking 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.\n\nThis 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.\n\nThey 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.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":["NA"],"Enrollment Count":6,"Primary Outcome Measure":[{"measure": "Canadian Occupational Performance Measure", "description": "A gold-standard 10-point scale that measures activity performance and satisfaction. The score ranges from 1 (unable to perform) to 10 (performs extremely well)", "timeFrame": "Up to 18 weeks (once a week, during base-line and intervention phase)"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":14,"Maximum Age (Years)":30,"Interventions":[{"type": "BEHAVIORAL", "name": "Pathways and Resources for Engagement and Participation (PREP)", "description": "Each participant will work individually with an occupational therapist (OT) to pursue one leisure-oriented, community-based activity chosen by the young person. The participant will choose the community program using the PREP 5 steps (Make goals; Map out a plan; Make it happen; Measure the process and outcomes; Move forward). The OT will then search for the appropriate program, identify and remove potential environmental barriers to participation in that activity (e.g., accessibility, equipment), and educate program instructors regarding the person's specific needs. This process will include an expected 8 sessions lasting 12 to 18 weeks (depending on the assigned baseline length).", "armGroupLabels": ["Community-Based activity program"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":12,"NCTID":"NCT03513367","Title":"The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory (PedsQLTM) 3.0 Duchenne Muscular Dystrophy Module.","Organization Study ID":null,"Organization Full Name":"University Hospital, Toulouse","Organization Class":"OTHER","Brief Title":"The Validation Process for Confirmation of the French Version of the Pediatric Quality of Life Inventory :PedsQLTM.","Status Verified Date":"2019-04-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"There 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Boys aged 7 to 18, with genomic Duchenne muscular dystrophy whose parents (mother and / or father) or direct grandparents do not oppose.\n\nExclusion Criteria:\n\n* Inability for the child to understand the issues\n* Absence of direct parents or grandparents\n* Child receiving antidepressant treatment\n* Non French speaking child\n* Duchenne Muscular Dystrophy girls","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-04-19","Study First Submit QC Date":"2018-04-19","Last Update Submit Date":"2019-04-16","Study First Post Date":"2018-05-01","Last Update Post Date":"2019-04-18","Start Date":"2018-09-19","Primary Completion Date":"2019-09-19","Completion Date":"2019-09-19","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"There 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":210,"Primary Outcome Measure":[{"measure": "Evaluate the validity of the French version of the DMD module of the PedsQLTM 3.0 scale", "description": "The validation process is confirmatory, the scale being widely used in English 201/5000 The internal consistency of the 4 dimensions of the PedsQL \u2122 DMD module will be evaluated by measuring the Cronbach Alpha. In terms of data availability to children (activity report).\n\nthe validation of the DMD module will focus on the validity of constructs, internal structure validity, discriminant validity and reliability", "timeFrame": "12 months"}, {"measure": "Evaluate the reliability of the French version of the DMD module of the PedsQLTM 3.0 scale", "description": "PedsQLTM is a model for measuring quality of life in children with acute or chronic pathology. Pathology-specific PedsQL \u2122 provides a better assessment of the quality of life of this population", "timeFrame": "12 months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "Duchenne Muscular Dystrophy of the PedsQL \u2122 3.0 scale", "description": "Scaling in multidisciplinary consultations in the form of a self-administered questionnaire with the help of a third party (psychologist). The child and his / her parent complete the questionnaire independently. The result of the questionnaire will then be scored.\n\nTo validate the French translation of the pediatric module of Duchenne Muscular Dystrophy of the PedsQL \u2122 3.0 scale. The validation process is confirmatory, the scale being widely used in English. The scale will measure the quality of life of the child using two independent assessments : children and their parents.", "armGroupLabels": ["Boys with Muscular Duchenne Dystrophy", "Parents of boys with Muscular Duchenne Dystrophy"]}, {"type": "OTHER", "name": "The following data of motor function", "description": "In parallel, the following data are collected on the day of the consultation: assessment of motor function (MFM, use of a wheelchair, age of loss of walking); assessment of respiratory function (EFR, FVC, respiratory assistance, type of respiratory aid); evaluation of cardiac function (FE); assessment of nutritional status (weight, height, BMI, nutritional support by gastrostomy), school status; ongoing drug treatments (corticosteroids, IEC).", "armGroupLabels": ["Boys with Muscular Duchenne Dystrophy"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":13,"NCTID":"NCT06054971","Title":"Use of Telemedicine and At-Home Video for Remote Administration of the North Star Ambulatory Assessment (NSAA): a Feasibility Study","Organization Study ID":null,"Organization Full Name":"Red Nucleus Enterprise Solutions, LLC","Organization Class":"INDUSTRY","Brief Title":"NSAA NON-Interventional Study Protocol","Status Verified Date":"2024-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 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.\n2. Confirmed diagnosis of DMD\n3. Participant with DMD aged 4 to12 (inclusive) at t Enrollment date\n4. Participant with DMD is ambulatory without assistive devices, braces, or aids throughout the study\n5. Caregiver has access to and/or willingness to learn use of a smart phone and the iTC study mobile application\n6. Participant and caregiver are based in the US throughout study\n7. Participant and caregiver are fluent in the English language (verbally and in writing)\n\nExclusion Criteria:\n\n1. Non-ambulatory DMD participant at any study timepoint\n2. Caregiver/participant unwilling or unable to administer/perform the NSAA\n3. Anticipated deterioration of participant's ambulatory status during the study","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-09-12","Study First Submit QC Date":"2023-09-19","Last Update Submit Date":"2025-03-18","Study First Post Date":"2023-09-26","Last Update Post Date":"2025-03-21","Start Date":"2023-10-02","Primary Completion Date":"2025-02-03","Completion Date":"2025-03-13","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":31,"Primary Outcome Measure":[{"measure": "Comparison of performance and ratings of the NSAA using three methods: 1) Live Telemedicine scores 2) Subsequent Recorded Telemedicine scores 3) Caregiver Asynchronous Video scores", "timeFrame": "6 Months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Remote Administration of NSAA", "description": "Remote Administration of NSAA", "armGroupLabels": ["Group A", "Group B"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":14,"NCTID":"NCT04054375","Title":"Open Label Safety and Efficacy of Once Weekly Steroid in Patients With LGMD and Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Northwestern University","Organization Class":"OTHER","Brief Title":"Weekly Steroids in Muscular Dystrophy","Status Verified Date":"2023-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.\n\nThe 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 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\n2. Ages 18-65 years\n3. EKG without evidence of prior infarct or atrial fibrillation done within 2 months of study initiation.\n4. Echocardiogram with LVEF \\>25% done within 6 months of study initiation.\n5. Stable medications (same medication and dose) for the previous 3 months\n6. Stable pulmonary status for the previous 6 months (No change in FVC by more than 20% in the past 6-months)\n\nExclusion Criteria:\n\n1. Diabetes\n2. BMI\\>35 kg/m2\n3. Cardiac transplantation\n4. Myocardia Infarct in the past 2-years from screening\n5. Any history of tuberculosis\n6. Untreated or uncontrolled (medication and/or dose change in previous month from screening) hypertension\n7. A diagnosis of congestive heart failure\n8. A diagnosis of chronic kidney disease\n9. A diagnosis of untreated hypothyroidism\n10. The patient is believed to be at high risk of osteoporosis by the primary investigator\n11. Inability to provide consent\n12. Full time ventilator dependency\n13. Heart failure symptoms or LVEF \\<25%\n14. Orthopedic surgery within the prior year or upcoming elective orthopedic surgery within the 6-months from Day 0.\n15. Inability to complete MRI (claustrophobia, metal implants)\n16. 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.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-08-07","Study First Submit QC Date":"2019-08-12","Last Update Submit Date":"2023-09-19","Study First Post Date":"2019-08-13","Last Update Post Date":"2023-09-21","Start Date":"2019-07-01","Primary Completion Date":"2020-06-01","Completion Date":"2022-03-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.\n\nThe 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.","Conditions":"Limb-girdle Muscular Dystrophy;Becker Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Fasting Glucose", "description": "mg/dL, 0-unlimited, higher score indicates worse outcome", "timeFrame": "Baseline and 6 months (Final Visit)"}, {"measure": "HbgA1c", "description": "% , 0-100, higher score indicates worse outcome", "timeFrame": "Baseline and 6 months (Final Visit)"}, {"measure": "Fasting Lipid Profile", "description": "cholesterol levels - mg/dL, higher levels indicate worse outcomes", "timeFrame": "Baseline and 6 months (Final Visit)"}, {"measure": "Creatine Kinase", "description": "units/L, 0-unlimited, higher scores indicate worse outcome", "timeFrame": "Baseline and 6 months (Final Visit)"}, {"measure": "Respiratory Changes", "description": "Force Vital Capacity (% of predicted value), decrease in FVC indicates declining respiratory function.", "timeFrame": "Baseline, 6 months"}],"Secondary Outcome Measure":[{"measure": "Functional Assessments - NSAD Change", "description": "Northstar Assessment for Dysferlinopathy\n\n\\- score out of 58, range from 0 to 58, higher score indicates greater functional ability.", "timeFrame": "Baseline, Month 6"}, {"measure": "6 Minute Walk Test", "description": "number of meters walked in 6 minute period. Higher values indicate more motor function.", "timeFrame": "Baseline, Month 6"}, {"measure": "10 Meter Run Timed", "description": "time in seconds to walk/run 10 meters , less time to run indicates greater motor function", "timeFrame": "Baseline, Month 6"}, {"measure": "Brooke Scale Score", "description": "upper extremity assessment, scoring between 1- 6, lower score indicates more upper extremity function", "timeFrame": "Baseline, Month 6"}, {"measure": "Vignos Scale Score", "description": "Lower extremity assessment, score from 1-10, lower score indicates more function.", "timeFrame": "Baseline, Month 6"}, {"measure": "Muscle Imaging", "description": "MRI 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.", "timeFrame": "Baseline, 6 months"}, {"measure": "Bone Density", "description": "whole dexa body scan to assess bone density with Z scores (more negative z score indicates increased risk for fractures).\n\nZ-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.", "timeFrame": "Baseline, 6 months"}, {"measure": "Lean Mass %", "description": "whole body dexa scans to assess lean mass % (0- 100 %). Increase lean mass % is the desired outcome.", "timeFrame": "Baseline, 6 months"}, {"measure": "Functional Assessments - Upper Limb Strength", "description": "Grip strength of the total force (Newtons) in both hands.\n\nParticipants attempted 3 trials in the right hand that was then averaged to create a right-hand average force score.\n\nThen, the participants attempted 3 trials in the left hand that was then averaged to create a left-hand average force score.\n\nThe right-hand average force score was added to the left-hand average force score to create a total grip strength score.", "timeFrame": "Baseline and 6 months"}, {"measure": "Muscle Strength Test", "description": "Manual motor testing of the right knee flexion muscle group.", "timeFrame": "baseline, 6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":65,"Interventions":[{"type": "DRUG", "name": "Prednisone", "description": "Subjects will be asked to take weekly GC oral prednisone dosed based on weight (1mg/kg for patients who weigh less than or equal to 70 kg and 0.75 mg/kg for patients who weigh more than 70 kg). Subjects will also be instructed to take their weekly prednisone on Mondays after their last meal between 7 and 9 PM", "armGroupLabels": ["Weekly Steroid"], "otherNames": ["Prednisolone"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[2],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["29395989", "21753160", "26833937", "28481224", "28823869", "23406536"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":15,"NCTID":"NCT05029232","Title":"Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital","Organization Study ID":null,"Organization Full Name":"Sohag University","Organization Class":"OTHER","Brief Title":"Comprehensive Study of Duchenne Muscular Dystrophy at Sohag University Hospital","Status Verified Date":"2021-08-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Muscular 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. age of onset between 3- and 18-year-old\n2. typical clinical manifestation of Duchenne muscular dystrophy\n3. 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.\n\nExclusion Criteria:\n\n1. children with another congenital muscular dystrophy\n2. children with other types of myopathies\n3. presence of CNS disorders such as brain insult \\& spinal muscular atrophy\n4. female gender","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2021-07-14","Study First Submit QC Date":"2021-08-29","Last Update Submit Date":"2021-08-29","Study First Post Date":"2021-08-31","Last Update Post Date":"2021-08-31","Start Date":"2021-10-01","Primary Completion Date":"2022-02-01","Completion Date":"2023-08-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Muscular 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":50,"Primary Outcome Measure":[{"measure": "change in dystrophine gene mutation", "description": "MLPA test", "timeFrame": "within six months"}, {"measure": "change in MRI findings in DMX patient from normal", "description": "by MRI brain", "timeFrame": "within six months"}, {"measure": "change in cardiac function in DMD patient", "description": "by Echocardiography to detect EF, FS", "timeFrame": "within six months"}, {"measure": "change in thyroid function in DMD patient", "description": "by thyroid function test", "timeFrame": "within six months"}, {"measure": "change in cognitive function in DMD patients", "description": "by Stanford IQ test", "timeFrame": "within six months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":3,"Maximum Age (Years)":18,"Interventions":[{"type": "DIAGNOSTIC_TEST", "name": "MLPA for duchenne", "description": "MLPA test for genetic testing to detect gene affection in DMD , and other tests for confirmation and follow up", "armGroupLabels": ["ambulant patient with DMD", "non ambulant patient with DMD"], "otherNames": ["muscle enzymes", "thyroid function", "EMG , nerve conduction for limbs", "echocardiography , MRI brain , IQ test"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["29395989", "29395990", "24135430"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":16,"NCTID":"NCT04173234","Title":"The Effect on Muscle Architecture Properties and Motor Functions of Aerobic Training in Children With Duchenne Muscle Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Aerobic Exercise in Duchenne Muscular Dystrophy","Status Verified Date":"2021-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion criteria:\n\n* Children had diagnosis of DMD confirmed by genetic analysis,\n* Children had functional level of Grade 1 and 2 according to Vignos Scale.\n\nExclusion criteria:\n\n* Children had undergone any surgery or suffered injury of the lower limbs,\n* Children had comorbid disease\n* Children were applied regular aerobic training in last 6 months.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-05-28","Study First Submit QC Date":"2019-11-19","Last Update Submit Date":"2021-09-29","Study First Post Date":"2019-11-21","Last Update Post Date":"2021-09-30","Start Date":"2019-04-11","Primary Completion Date":"2020-08-15","Completion Date":"2020-12-15","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":19,"Primary Outcome Measure":[{"measure": "Evaluation of Muscle Thickness, Fascicle Length, Pennation Angle with Ultrasonography", "description": "Bilateral 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.", "timeFrame": "10 minutes"}],"Secondary Outcome Measure":[{"measure": "Assessment of Motor Function by Motor Function Measure (MFM)", "description": "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.)", "timeFrame": "30 minutes"}, {"measure": "Evaluation Motor Performance with Timed Functional Test and Six minute walk test", "description": "Timed 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.", "timeFrame": "20 minutes"}, {"measure": "Shortening assessment of trunk and lower extremity muscles with goniometric measurement and tape", "description": "Assessment 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\u00b0 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.", "timeFrame": "20 minutes"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Aerobic Training", "description": "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 to children in treatment group.", "armGroupLabels": ["Treatment Group"]}, {"type": "OTHER", "name": "Home exercise program", "description": "Children will be given a home program including stretching, breathing, normal joint movement, body weight and mildly resistant exercises, and children will be asked to do these for 3 to 5 days a week.", "armGroupLabels": ["Control Group", "Treatment Group"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":17,"NCTID":"NCT07609394","Title":"Duchenne Outcomes Research Interchange Data Enrichment Through EHR Extraction","Organization Study ID":null,"Organization Full Name":"The Duchenne Registry","Organization Class":"OTHER","Brief Title":"Duchenne Electronic Health Record Study","Status Verified Date":"2026-05-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer. At select clinics across the United States, electronic health record (EHR) data from consented patients will be pushed into PPMD's Duchenne Outcomes Research Interchange (the Interchange), where the EHR data can be combined with patient-reported data from The Duchenne Registry. By combining this data in a central hub, we will gain a more complete picture of Duchenne and Becker muscular dystrophy, allowing researchers and clinicians to develop treatments faster and to improve and refine the standards of care for Duchenne and Becker. The ultimate goal is to optimize function, quality of life, and survival of Duchenne and Becker patients.\n\nEHR data collected will be fully identifiable retrospective data for core clinical data elements going back ten years (as available) from the date of consent; going back one year for retrospective clinical notes from the date of consent; and prospectively collecting both core clinical data elements and clinical notes. Information collected will align with the FHIR U.S. core data elements, also known as the Common Clinical Data Set.\n\nPPMD partnered with Prometheus Research (an IQVIA company), an industry leader in health data informatics, to launch both the EHR Study and the Interchange. All data is stored securely and in accordance with strict industry standards and patient privacy laws. Participation in the EHR data extraction is voluntary, and a patient can withdraw consent at any time.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Duchenne or Becker muscular dystrophy or female carrier\n* Must be a patient at an institution that has an established EHR integration set up with PPMD's Interchange\n* Must provide consent to have their EHR data pushed to the Interchange and linked to existing Registry data, if applicable\n\nExclusion Criteria:\n\n* Individuals with other forms of muscular dystrophy\n* Individuals who do not provide consent\n\nIndividuals with Duchenne/Becker who have severe mobility/strength issues need to provide consent and participate with assistance from a caregiver. Adults with communication impairments and/or intellectual disabilities (considered the \"decisionally impaired\" group for purposes of this study) will be able to consent with the assistance of the adults who are designated Legally Authorized Representative (LAR). Without assistance, this group will be excluded from participation because the consent process.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-03-19","Study First Submit QC Date":"2026-05-21","Last Update Submit Date":"2026-05-21","Study First Post Date":"2026-05-27","Last Update Post Date":"2026-05-27","Start Date":"2022-12-01","Primary Completion Date":"2035-12-01","Completion Date":"2072-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer. At select clinics across the United States, electronic health record (EHR) data from consented patients will be pushed into PPMD's Duchenne Outcomes Research Interchange (the Interchange), where the EHR data can be combined with patient-reported data from The Duchenne Registry. By combining this data in a central hub, we will gain a more complete picture of Duchenne and Becker muscular dystrophy, allowing researchers and clinicians to develop treatments faster and to improve and refine the standards of care for Duchenne and Becker. The ultimate goal is to optimize function, quality of life, and survival of Duchenne and Becker patients.\n\nEHR data collected will be fully identifiable retrospective data for core clinical data elements going back ten years (as available) from the date of consent; going back one year for retrospective clinical notes from the date of consent; and prospectively collecting both core clinical data elements and clinical notes. Information collected will align with the FHIR U.S. core data elements, also known as the Common Clinical Data Set.\n\nPPMD partnered with Prometheus Research (an IQVIA company), an industry leader in health data informatics, to launch both the EHR Study and the Interchange. All data is stored securely and in accordance with strict industry standards and patient privacy laws. Participation in the EHR data extraction is voluntary, and a patient can withdraw consent at any time.","Conditions":"Duchenne Muscular Dystrophy (DMD);Becker Muscular Dystrophy;Dystrophinopathy;Dystrophinopathy Symptomatic Female Carrier","Phases":null,"Enrollment Count":2500,"Primary Outcome Measure":[{"measure": "Progressive Muscle Weakness", "description": "Characterize progressive muscle weakness in dystrophinopathy patients over time by measuring 1) age at start of corticosteroids (age at first prescription); 2) corticosteroid use including name, dose, regimen; and 3) dependence on wheelchair or age at fulltime wheelchair use (date of wheelchair/DME order).", "timeFrame": "Date of initiation of corticosteroids and date of first wheelchair/DME order; Steroid use recorded at baseline (day 1) and each annual follow-up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years."}, {"measure": "Cardiac Function", "description": "Characterize cardiac standard of care and cardiac function in dystrophinopathy patients by measuring 1) age at first echocardiogram, cardiac MRI, and EKG; 2) age at first ACE inhibitor or ARB prescription; and 3) recording LVEF on echocardiogram and cardiac MRI throughout study.", "timeFrame": "Date of first echo, cardiac MRI, and EKG and all follow-up scans recorded at each annual visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years; Date of first ACE inhibitor or ARB prescription."}, {"measure": "Pulmonary Function", "description": "Characterize pulmonary standard of care and pulmonary function in dystrophinopathy patients by measuring spirometry results including 1) forced vital capacity (FVC), % predicted; and 2) peak cough flow (PCF) in L/min.", "timeFrame": "FVC and PCF recorded at baseline (day 1) and at each annual follow-up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years."}, {"measure": "Bone Health", "description": "Characterize orthopedic standard of care and bone health in dystrophinopathy patients by measuring 1) date of first Xray of spine and DEXA scan; 2) age at first bisphosphonates prescription; and 3) recording BMI throughout study.", "timeFrame": "BMI, Xray of spine and DEXA scan recorded at baseline (day 1) and at each annual follow up visit (until patient is no longer seen at institution or withdraws consent), anticipated average of 20 years; Date of first bisphosphonates prescription."}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "Observational study with patients who may be treated with various disease-modifying therapies", "description": "Patients may be on any combination of therapies to participate, including FDA-approved therapies (corticosteroids, exon skipping therapy, gene therapy) or therapies in clinical trial."}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://www.duchenneregistry.org/ehr-study-faqs/", "https://www.parentprojectmd.org/ppmd-announces-the-first-patient-consented-into-ehr-study/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":18,"NCTID":"NCT03354039","Title":"Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial","Organization Study ID":null,"Organization Full Name":"University Hospital, Basel, Switzerland","Organization Class":"OTHER","Brief Title":"Tamoxifen in Duchenne Muscular Dystrophy","Status Verified Date":"2022-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"A 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.\n\nAn 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nGroup A (ambulant patients)\n\n* 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\n* Stable treatment with glucocorticoids \\>6 months (no significant change in dosage (\\>0.2mg/kg)) at screening; dosing adaptations according to weight change are allowed\n* Male gender\n* 6.5 to 12 years of age at time of screening\n* weight \\>20kg\n* ambulant patients\n* able to walk at least 350 meters in 6 minute walking distance test without assistance at screening\n* MFM D1 subdomain of the MFM scale \\>40% at screening\n* Ability to provide informed consent and to comply with study requirements\n* 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\n\nGroup B (non-ambulant patients)\n\n* 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\n* Not using glucocorticoids for \\>6 months\n* Male gender\n* Non-ambulant patients (walking distance less than 10 meters)\n* 10 to 16 years of age at time of screening\n* Ability to provide informed consent and to comply with study requirements\n\nOpen label extension\n\n\\- Recent participation and completion of TAMDMD study\n\nExclusion Criteria:\n\n* Known individual hypersensitivity or allergy to tamoxifen or other ingredients/excipients of IMP\n* Female gender\n* Use of tamoxifen or testosterone within the last 3 months\n* Known or suspected malignancy\n* Other chronic disease or clinically relevant limitation of renal, liver or heart function\n* Known or suspected non-compliance\n* Any injury which may impact functional testing, e.g. upper or lower limb fracture\n* 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.\n* 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)\n* Concomitant participation in any other interventional trial (and up to 3 months prior to screening)\n* Use of CYP2D6 inhibitors or of CYP3A4 inducers (apart from glucocorticoids), platelet aggregation inhibitors and coumarin-type anti-coagulants\n* Use of drugs metabolized by CYP2C9, such as phenprocoumon, phenytoin, warfarin, celecoxib, fluvastatin, ginko biloba, St. John's wort and sulfamethoxazol\n* Galactosemia (lack of galactose-1-phosphat-uridylyltransferase or UDP-galactose-4-epimerase or galactokinase; Fanconi-Bickel-syndrome); congenital lack of lactase; glucose-galactose malabsorption\n* Presence of one or more of the following eye disorders: cataract, retinopathia, optic neuropathy, alteration of the cornea\n* Presence of one or more of the following laboratory abnormalities: anaemia, thrombocytopenia, leukopenia, neutropenia or agranulocytosis\n\nGroup A:\n\n* Glucocorticoid naïve patients\n* Start of glucocorticoid treatment or change in dosage \\<6 month prior to screening (dosing adaptations according to weight change are allowed)\n\nGroup B:\n\n* Glucocorticoid treated patients or patients that stopped glucocorticoid treatment \\<6 month prior to screening\n* Assisted ventilation of any kind necessary","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2017-10-10","Study First Submit QC Date":"2017-11-21","Last Update Submit Date":"2022-12-19","Study First Post Date":"2017-11-27","Last Update Post Date":"2022-12-20","Start Date":"2018-06-12","Primary Completion Date":"2022-07-25","Completion Date":"2022-10-18","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"A 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.\n\nAn 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":93,"Primary Outcome Measure":[{"measure": "Reduction of disease progression", "description": "To 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).", "timeFrame": "Baseline to week 48"}],"Secondary Outcome Measure":[{"measure": "Muscle function measured by D2 MFM subscore", "description": "D2 MFM subscore from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by D3 MFM subscore", "description": "D3 MFM subscore from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by North Star Ambulatory Assessment", "description": "North Star Ambulatory Assessment from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by proximal upper limb function", "description": "Proximal upper limb function from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by 6 minute walking distance in meter", "description": "6 minute walking distance in meter from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by 10 meter walking time in seconds", "description": "10 meter walking time in seconds from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle function measured by time to rise from lying on the floor / supine up in seconds", "description": "time to rise from lying on the floor / supine up in seconds from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle force measured by quantitative muscle testing (using Myogrip)", "description": "Quantitative muscle testing (using Myogrip) from baseline to week 48 under TAM treatment compared to placebo.", "timeFrame": "Baseline to week 48"}, {"measure": "Muscle Degeneration measured by MRI", "description": "Quantitative 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.", "timeFrame": "Baseline to week 48"}],"Healthy Volunteers":false,"Minimum Age (Years)":78,"Maximum Age (Years)":16,"Interventions":[{"type": "DRUG", "name": "Tamoxifen", "description": "DMD patients randomised to verum will receive 20 mg (0.6mg/kg) of Tamoxifen daily. Treatment will be given for the total period of 48 weeks.", "armGroupLabels": ["Tamoxifen 20 mg once daily"]}, {"type": "DRUG", "name": "Matching placebo", "description": "Patients randomised to placebo will be administered matching placebo. Treatment will be given for the total period of 48 weeks.", "armGroupLabels": ["Matching placebo once daily"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["41691937", "39879732", "37739572", "31752977"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":19,"NCTID":"NCT04287582","Title":"The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"The Evaluation of Muscle Activation in Climbing up Stairs Activity in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2020-02-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Children 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.\n\nSurface 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.\n\nOur 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.\n\nHypothesis originating from the investigation:\n\nH0: 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.\n\nH1: 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.\n\nH2: 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.\n\nH3: 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nChildren with DMD:\n\n* Having been diagnosed with Duchenne Muscular Dystrophy by a pediatric neurologist,\n* Volunteering to participate in the study,\n* Being in the 5-12 age range\n* 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),\n* To be able to cooperate with the instructions of the physiotherapist\n\nHealthy Group:\n\n* Not having a known acute or chronic illness\n* The children with DMD included in the study have similar demographic characteristics (age, height, weight, body mass index),\n* The physiotherapist should cooperate with the instructions.\n\nExclusion Criteria:\n\nChildren with DMD:\n\n* Have undergone any lower limb injuries and / or surgery,\n* Started steroid treatment in the last 6 months,\n* Having any systemic disease other than DMD,\n* Not having permission from his family and himself.\n\nHealthy Group:\n\n* Having had any injury and / or surgery ,\n* Children with DMD have relatives,\n* Not having permission from his family and himself","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2020-02-23","Study First Submit QC Date":"2020-02-25","Last Update Submit Date":"2020-02-25","Study First Post Date":"2020-02-27","Last Update Post Date":"2020-02-27","Start Date":"2019-04-03","Primary Completion Date":"2020-03-07","Completion Date":"2020-04-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Children 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.\n\nSurface 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.\n\nOur 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.\n\nHypothesis originating from the investigation:\n\nH0: 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.\n\nH1: 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.\n\nH2: 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.\n\nH3: 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Surface Electromyographic Measurement", "description": "Muscle Activation Measurement It is an 8-channel system for measuring signals come from muscles (Delsys)", "timeFrame": "40 minutes"}],"Secondary Outcome Measure":[{"measure": "Muscle Strength Measurement", "description": "A quantitative and objective method for assessment of muscular strength using a portable hand held dynamometer. Muscle strength measurement included lower limb and trunk muscles.", "timeFrame": "15 minutes"}, {"measure": "Timed Performance Test", "description": "Timed 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.", "timeFrame": "20 minutes"}, {"measure": "Muscle shortness assessment", "description": "Shortening assessment of trunk and lower extremity muscles measurement included back extensors, hamstring, hip flexors, quadriceps and gastrocnemius muscles.", "timeFrame": "10 minutes"}, {"measure": "Six minute walk test", "description": "Children were asked to walk during 6 minutes as fast as possible at a 25 meter corridor.", "timeFrame": "6 minutes"}],"Healthy Volunteers":true,"Minimum Age (Years)":5,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Electromyographic device", "description": "An 8-channel surface EMG system (DELSYS Trigno Wireless System) will be used to measure signals from muscles during stair climbing activity by surface electromyography measurements.Surface EMG measurements will be carried out during stair climbing activity without any intervention in the body. Surface EMG electrodes will be placed bilaterally in the vastus lateralis, biceps femoris, tibialis anterior and gastrocnemius medialis muscles.", "armGroupLabels": ["Healthy Group", "Level 1 DMD", "Level 2-3 DMD"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["15209455", "12447089", "15102501", "27622734", "11018445", "34608577"],"See Also Links":["http://www.seniam.org/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":20,"NCTID":"NCT05938023","Title":"A Multicentre, Randomised, Double-blind, Placebo-controlled and Open Label Extension Study to Assess the Efficacy, Safety, and Pharmacokinetic Profile of of ATL1102 in Non-ambulatory Participants With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Percheron Therapeutics","Organization Class":"INDUSTRY","Brief Title":"A Study of ATL1102 or Placebo in Participants With Non-ambulatory Duchenne Muscular Dystrophy","Status Verified Date":"2025-01-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This 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).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria:\n\n* Has a clinical diagnosis of DMD confirmed by validated genetic testing\n* Is considered to be non-ambulatory, defined as unable to walk 10 meters without assistance or help at Screening.\n* Male aged 10 to less than 18 years, at the time of Screening.\n* Body weight of at least 25 kg at Screening.\n* 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\n* Participant has a Performance of Upper Limb Module for DMD 2.0 (PUL 2.0) Entry Item A score ≥2.\n* Able to perform spirometry and has sufficient Respiratory function defined as reproducible percent predicted FVC ≥50%.\n* 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)\n* Participant and their parent/guardian/carer are willing and able to comply with scheduled visits, study medication administration and study procedures.\n\nKey Exclusion Criteria:\n\n* 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.\n* Exposure to more than 3 investigational products within the 12 months prior to Day 1.\n* History of clinically significant bleeding or coagulation abnormalities or clinically significant abnormal coagulation parameters.\n* Currently receiving antiplatelet or anticoagulant therapy or has taken medication with an antiplatelet or anticoagulant effect within 4 weeks prior Day 1\n* 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).\n* Known history of or a positive test for hepatitis B surface antigen (HBsAg), hepatitis C (HCV) antibodies, human immunodeficiency virus (HIV) antibodies at Screening.\n* Evidence of renal impairment and/or cystatin C \\>1.4 mg/L.\n* Received a live vaccine (including intranasal influenza vaccine) within 4 weeks prior to Day 1 or planned live vaccination during the study period.\n* 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.\n* Requires day-time assisted mechanical or non-invasive ventilation (NIV) (night time NIV is permitted).\n* 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).\n* 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.\n* Has an increased risk for opportunistic infections or systemic medical conditions resulting in significantly compromised immune system function","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-06-05","Study First Submit QC Date":"2023-06-29","Last Update Submit Date":"2025-01-30","Study First Post Date":"2023-07-10","Last Update Post Date":"2025-02-03","Start Date":"2023-05-18","Primary Completion Date":"2024-11-19","Completion Date":"2025-01-15","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":48,"Primary Outcome Measure":[{"measure": "Change in the Performance of Upper Limb (PUL) 2.0 score from baseline to Week 25 (blinded treatment period).", "description": "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 42", "timeFrame": "25 weeks"}, {"measure": "Change in the Performance of Upper Limb (PUL) 2.0 score from Week 25 to Week 49 (open label treatment period).", "description": "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 42", "timeFrame": "49 weeks"}, {"measure": "Change in the Performance of Upper Limb (PUL) 2.0 score from baseline to Week 49 (combined treatment period).", "description": "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 42", "timeFrame": "49 weeks"}, {"measure": "Safety measured by the incidence and frequency of adverse events, serious adverse events and suspected unexpected adverse events from baseline to Week 65", "description": "An Adverse Event is any untoward medical occurrence in a participant and does not necessarily have to have a causal relationship with the intervention.", "timeFrame": "65 weeks"}],"Secondary Outcome Measure":[{"measure": "Change in the grip strength of the hand from baseline to Week 25 using a handheld dynamometer tool (MyoGrip) (blinded treatment period).", "description": "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.", "timeFrame": "25 weeks"}, {"measure": "Change in the pinch strength of the fingers from baseline to Week 25 using handheld dynamometer tool (MyoPinch) (blinded treatment period).", "description": "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.", "timeFrame": "25 weeks"}, {"measure": "Change in the respiratory function assessed by Forced Vital Capacity (FVC) from baseline to Week 25 (blinded treatment period).", "description": "The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "25 weeks"}, {"measure": "Change in the respiratory function assessed by peak expiratory flow (PEF) from baseline to Week 25 (blinded treatment period).", "description": "The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "25 weeks"}, {"measure": "Change in the Paediatric Quality of Life (PedsQL\u2122) questionnaire Duchenne Muscular Dystrophy (DMD) Module from baseline to Week 25 (blinded treatment period).", "description": "Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL\u2122) 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.", "timeFrame": "25 weeks"}, {"measure": "Safety 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).", "description": "An Adverse Event is any untoward medical occurrence in a participant and does not necessarily have to have a causal relationship with the intervention.", "timeFrame": "25 weeks"}, {"measure": "Maximum and minimum plasma concentration (Cmax and Cmin) for ATL1102 over multiple timepoints", "description": "Pharmacokinetic evaluation to evaluate dose response", "timeFrame": "65 weeks"}, {"measure": "Area under the plasma concentration time curve (AUC) for ATL1102 over multiple timepoints", "description": "Pharmacokinetic evaluation to evaluate dose concentration over time", "timeFrame": "65 weeks"}, {"measure": "Time to Cmax and Cmin for ATL1102 over multiple timepoints", "description": "Pharmacokinetic evaluation to evaluate concentration of ATL1102", "timeFrame": "65 weeks"}, {"measure": "The terminal half life for ATL1102", "description": "Pharmacokinetic evaluation to evaluate the time for the ATL1102 concentration to reduce by half", "timeFrame": "65 weeks"}, {"measure": "Change in the grip strength of the hand from Week 25 to Week 49 using a handheld dynamometer tool (MyoGrip) (open label treatment period).", "description": "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.", "timeFrame": "49 weeks"}, {"measure": "Change in the pinch strength of the fingers from Week 25 to Week 49 using handheld dynamometer tool (MyoPinch) (open label treatment period).", "description": "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.", "timeFrame": "49 weeks"}, {"measure": "Change in the respiratory function assessed by Forced Vital Capacity (FVC) from Week 25 to Week 49 (open label treatment period).", "description": "The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "49 weeks"}, {"measure": "Change in the respiratory function assessed by peak expiratory flow (PEF) from Week 25 to Week 49 (open label treatment period).", "description": "The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "49 weeks"}, {"measure": "Change in the Paediatric Quality of Life (PedsQL) questionnaire Duchenne Muscular Dystrophy (DMD) Module from Week 25 to Week 49 (open label treatment period).", "description": "Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL\u2122) 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.", "timeFrame": "49 weeks"}, {"measure": "Change in the grip strength of the hand from baseline to Week 49 using a handheld dynamometer tool (MyoGrip) (combined treatment period).", "description": "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.", "timeFrame": "49 weeks"}, {"measure": "Change in the pinch strength of the fingers from Baseline to Week 49 using handheld dynamometer tool (MyoPinch) (combined treatment period).", "description": "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.", "timeFrame": "49 weeks"}, {"measure": "Change in the respiratory function assessed by Forced Vital Capacity (FVC) from Baseline to Week 49 (combined treatment period).", "description": "The percent predicted for Forced Vital Capacity (FVC%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "49 weeks"}, {"measure": "Change in the respiratory function assessed by peak expiratory flow (PEF) from baseline to Week 49 (combined treatment period).", "description": "The percent predicted for peak expiratory flow (PEF%p) will be calculated at multiple timepoints after respiratory function is assessed using spirometry tests", "timeFrame": "49 weeks"}, {"measure": "Change in the Paediatric Quality of Life (PedsQL) questionnaire Duchenne Muscular Dystrophy (DMD) Module from Baseline to Week 49 (combined treatment period).", "description": "Health related quality of life is assessed by percentage of change in the score collected in the Paediatric Quality of Life (PedsQL\u2122) 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.", "timeFrame": "49 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":10,"Maximum Age (Years)":17,"Interventions":[{"type": "DRUG", "name": "ATL1102 25mg", "description": "Dose and scheduled as specified in the Arm description", "armGroupLabels": ["ATL1102 25mg"]}, {"type": "DRUG", "name": "ATL1102 50mg", "description": "Dose and scheduled as specified in the Arm description", "armGroupLabels": ["ATL1102 50mg"]}, {"type": "DRUG", "name": "Placebo", "description": "Dose and scheduled as specified in the Arm description", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":21,"NCTID":"NCT06565208","Title":"Phase 1, Randomized, Double-blind, Placebo-controlled, Staggered, Parallel, Single and Multiple Ascending Dose and Food Effect Study to Evaluate the Safety and PK of Oral SAT-3247 in Healthy Volunteers and Participants With DMD","Organization Study ID":null,"Organization Full Name":"Satellos Bioscience, Inc.","Organization Class":"INDUSTRY","Brief Title":"First in Human SAD/MAD Safety and PK Study With Adult DMD Safety and PK Cohort","Status Verified Date":"2025-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Parts A-C enroll healthy volunteers; only entry criteria for Part D are described below.\n\nPart D Inclusion Criteria:\n\n* 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.\n* 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.\n* 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.\n* Non-smoker and must not have used any tobacco or cannabis products within 2 months prior to Screening.\n* Has a definitive diagnosis of DMD based on documented clinical findings and prior genetic testing with a confirmed mutation in the DMD gene.\n* BMI ≥ 18.0 kg/m2 and ≤ 32.0 kg/m2 and weight ≥ 50 kg at Screening.\n* 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.\n* Agree to abstain from donating blood or blood products during the study and for up to 3 months after the administration of the IP.\n\nPart D Exclusion Criteria:\n\n* 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.\n* 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.\n* 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.\n* Any surgical procedures (eg, stomach bypass) or medical condition that might affect absorption of medicines.\n* 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.\n* Fever (body temperature \\>38°C) or symptomatic viral or bacterial infection within 2 weeks prior to Screening.\n* Poor pill swallowing ability as determined by PI.\n* Presence or history of severe allergic or anaphylactic reactions, or sensitivity to the IP or its constituents.\n* History of relevant atopy including any confirmed significant allergic reactions against any drug, or multiple drug allergies (non-active hay fever is acceptable).\n* 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.\n* Abnormal ECG findings at Screening and or Day -1 that are considered by the PI or designee to be clinically significant.\n* QT value, measured at Screening visit, greater than 450 msecs (male) on 12-lead ECG, using Fridericia's formula (QTcF) for correction.\n* 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.\n* History or presence of a condition associated with significant immunosuppression.\n* History of life-threatening infection (eg, meningitis).\n* Infections requiring parenteral antibiotics within 6 months prior to Screening.\n* Positive test for hepatitis C antibody (HCV), hepatitis B surface antigen (HBsAg), human immunodeficiency virus (HIV) antibody.\n* Vaccination with a vaccine within 28 days prior to the first administration of IP.\n* Creatine kinase \\> ULN or ALP, AST, bilirubin, and/or ALT \\>1.5 × ULN at Screening.\n* Anticipated change to prescription medication, over the counter medications, vitamins, supplements, and/or herbal remedies during the course of the trial.\n* 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.\n* An employee, consultant, and/or immediate family member (ie, first degree relative, spouse, adoptees, or legal dependents) of the site, Sponsor, or the CRO.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-08-19","Study First Submit QC Date":"2024-08-19","Last Update Submit Date":"2025-05-12","Study First Post Date":"2024-08-21","Last Update Post Date":"2025-05-15","Start Date":"2024-08-21","Primary Completion Date":"2025-04-28","Completion Date":"2025-04-28","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["EARLY_PHASE1"],"Enrollment Count":77,"Primary Outcome Measure":[{"measure": "Incidence and severity of treatment emergent adverse events", "description": "Safety and tolerability of SAT-3247 as compared to placebo", "timeFrame": "Part A: Day 1-3; Part B: Day 1-8; Part C: Day 1-3; Part D: Day 1-28"}],"Secondary Outcome Measure":[{"measure": "Serum plasma Pharmacokinetics of SAT-3247", "description": "Plasma PK parameters including Cmax, Tmax, AUC, terminal half-life, CL/F, Vz/F, and ratios of Cmax and AUC", "timeFrame": "Part A: Day 1-3; Part B: Day 1-8; Part C: Day 1-3; Part D: Day 1-28"}],"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":40,"Interventions":[{"type": "DRUG", "name": "SAT-3247", "description": "SAT-3247 is an oral tablet that is a potent, muscle penetrant, small molecule inhibitor of AAK1; inhibition of AAK1 rescues perturbed asymmetric division of satellite stem cells, resulting in increased muscle regeneration in animal models of DMD. In vitro and in vivo animal pharmacology studies have demonstrated the efficacy of SAT-3247 in improving muscle strength and the necessary target coverage to maximize functional muscle improvement.", "armGroupLabels": ["SAT-3247"], "otherNames": ["SAT3247", "AAK1 inhibitor"]}, {"type": "DRUG", "name": "matched placebo", "description": "matched placebo", "armGroupLabels": ["Placebo"], "otherNames": ["placebo"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":22,"NCTID":"NCT05436210","Title":"The Impact of Postural and Anthropometric Properties of Foot and Ankle on Physical Performance and Ambulation of Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Postural and Anthropometric Properties of Foot and Ankle of Patients With DMD","Status Verified Date":"2023-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Introduction: 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.\n\nObjective: The aim of this study is to examine the relationship between foot posture, performance and ambulation in patients with DMD.\n\nMethod: 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1.5 to 18 years old 2. Not to have lost his ambulation 3. Agreeing to participate in the research voluntarily\n\nExclusion Criteria:\n\n1. Having serious mental and psychological problems,\n2. Having lost his ambulation\n3. Inability to cooperate adequately with the physiotherapist who made the evaluations,\n4. Any injury and/or surgery to the lower extremities in the last 6 months.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-06-23","Study First Submit QC Date":"2022-06-23","Last Update Submit Date":"2023-01-03","Study First Post Date":"2022-06-29","Last Update Post Date":"2023-01-04","Start Date":"2022-06-23","Primary Completion Date":"2022-10-20","Completion Date":"2022-11-23","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Introduction: 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.\n\nObjective: The aim of this study is to examine the relationship between foot posture, performance and ambulation in patients with DMD.\n\nMethod: 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.","Conditions":"Duchenne Muscular Dystrophy;Ambulation Difficulty;Posture Disorders in Children;Ambulation Disorder, Neurologic","Phases":null,"Enrollment Count":48,"Primary Outcome Measure":[{"measure": "foot posture index - 6", "description": "The 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.", "timeFrame": "10 minutes"}, {"measure": "6 min walk test (6MWT)", "description": "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.", "timeFrame": "6 minutes"}, {"measure": "north star ambulation assessment", "description": "Patients' 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 status", "timeFrame": "10 minutes"}, {"measure": "timed performance test", "description": "Ascending-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.", "timeFrame": "ten minutes"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "foot posture index, north star ambulation assessment, timed performance tests, 6 minute walk test", "description": "Patients will be evaluated only observationally without intervention by foot posture index, north star ambulation assessment, timed performance tests, 6 minute walk test"}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":23,"NCTID":"NCT00873782","Title":"Safety and Feasibility of Transvenous Limb Perfusion With Normal Saline in Human Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of North Carolina, Chapel Hill","Organization Class":"OTHER","Brief Title":"Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy","Status Verified Date":"2015-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Muscular 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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\n* 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\n* Older than 21 years of age and preferably younger 30 years of age\n* Able to stand, independently or with assistance\n* Able to communicate with pertinent staff\n* Able to understand and willingly comply with the requirements of the study\n\nExclusion Criteria:\n\n* Confirmed diagnosis of any other muscle disease\n* Previous compartment syndrome requiring surgical decompression\n* Previous venous or arterial thrombosis other than superficial venous thrombosis associated with intravenous catheter\n* Coagulopathy, including known diagnosis of bleeding diathesis, history of excessive bleeding on multiple occasions, or taking anticoagulant or platelet inhibitory medications\n* Systemic arterial or venous disease (e.g., Raynaud's, aortic coarctation or aneurysm)\n* Previous injury to selected limb with residual effect other than superficial scarring\n* Previous vascular surgery to selected limb\n* Previous compressive neuropathy (e.g., carpal tunnel syndrome in arm, peroneal palsy in leg)\n* Complex regional pain syndrome or other neurological cause of limb pain\n* Previous clinical diagnosis of congestive heart failure\n* Previous echocardiography showing ejection fraction less than 40% or ventricular dilation\n* Previous chest x-ray showing enlarged cardiac silhouette or pulmonary edema\n* History of rhabdomyolysis with worsening renal function\n* Creatinine greater than 1.7 mg/dL\n* Resting hypoxemia with SaO2 less than 90% on room air\n* Other significant heart, lung, or kidney disease that would compromise the body's capacity to handle a fluid load\n* Previous forced vital capacity less than 75% of age and height adjusted norm, in the absence of acute reversible pulmonary disease\n* Sickle cell disease (sickle cell anemia \\[SS\\] or sickle hemoglobin C disease \\[SC\\])\n* Pregnant\n* Non-English speaker","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2009-04-01","Study First Submit QC Date":"2009-04-01","Last Update Submit Date":"2015-02-27","Study First Post Date":"2009-04-02","Last Update Post Date":"2015-03-09","Start Date":"2009-03-01","Primary Completion Date":"2014-02-01","Completion Date":"2014-02-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Muscular 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.","Conditions":"Muscular Dystrophies;Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Limb-Girdle Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":16,"Primary Outcome Measure":[{"measure": "Muscle, Nerve, or Vascular Damage", "description": "Number of Participants with all of the following three:\n\n1. Unchanged Doppler ultrasound to assess venous and arterial damage pre-and post perfusion based on report\n2. 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\n3. Without clinically significant changes in Quantitative muscle testing (QMT) strength assessments pre-and post perfusion:\\< 85% baseline", "timeFrame": "Measured within 2 weeks after limb perfusion procedure"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":21,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "Retrograde high pressure transvenous perfusion with normal saline", "description": "Dose escalation of saline volume, infusion rate, and tourniquet pressure, as determined in a stepwise manner and by careful monitoring", "armGroupLabels": ["1"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":24,"NCTID":"NCT03769116","Title":"A Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial for Duchenne Muscular Dystrophy Using SRP-9001","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Randomized, Double-blind, Placebo-controlled Study of Delandistrogene Moxeparvovec (SRP-9001) for Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2024-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.\n\nIn 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).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Established clinical diagnosis of DMD and documented dystrophin gene mutation of DMD phenotype.\n* Indication of symptomatic muscular dystrophy by protocol-specified criteria.\n* Ability to cooperate with motor assessment testing.\n* Stable dose equivalent of oral corticosteroids for at least 12 weeks.\n* A frameshift mutation contained between exons 18 and 58 (inclusive).\n\nExclusion Criteria:\n\n* Impaired cardiovascular function on echocardiogram.\n* 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.\n* Exposure to another investigational drug or exon skipping medication within 6 months of screening.\n* Exposure to an investigational or commercial gene therapy product.\n* Abnormal liver or renal function by protocol-specified criteria.\n\nOther inclusion/exclusion criteria apply.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-12-06","Study First Submit QC Date":"2018-12-06","Last Update Submit Date":"2024-11-12","Study First Post Date":"2018-12-07","Last Update Post Date":"2024-11-14","Start Date":"2018-12-05","Primary Completion Date":"2020-12-08","Completion Date":"2023-08-16","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.\n\nIn 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).","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE1", "PHASE2"],"Enrollment Count":41,"Primary Outcome Measure":[{"measure": "Change From Baseline at Week 12 in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression as Measured by Western Blot Adjusted by Muscle Content", "description": "Baseline muscle biopsies with ultrasound guidance were performed pre-treatment and post-treatment (Week 12) on all participants. The change from baseline in delandistrogene moxeparvovec dystrophin expression in these muscle biopsy samples was determined by Western Blot. Dystrophin protein was 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.", "timeFrame": "Baseline, Week 12 (Part 1)"}, {"measure": "Change From Baseline at Week 48 in NSAA Total Score", "description": "The 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.", "timeFrame": "Baseline, Week 48 (Part 1)"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline at Week 48 in Time to Rise From the Floor", "description": "This functional assessment was performed as a part of the NSAA and measures the time taken to rise from supine to standing. All functional assessments were administered by a clinical evaluator. A decrease in time indicates an improvement in motor function.", "timeFrame": "Baseline, Week 48 (Part 1)"}, {"measure": "Change From Baseline at Week 48 in Time to Ascend 4 Steps", "description": "This functional assessment measures the time taken to climb 4 steps. All functional assessments were administered by a clinical evaluator. A decrease in time indicates an improvement in motor function.", "timeFrame": "Baseline, Week 48 (Part 1)"}, {"measure": "Change From Baseline at Week 48 in Time of 10-meter Timed Test", "description": "This functional assessment measures the time needed to move 10 meters. All functional assessments were administered by a clinical evaluator. A decrease in time indicates an improvement in motor function.", "timeFrame": "Baseline, Week 48 (Part 1)"}, {"measure": "Change From Baseline at Week 48 in Time of 100-meter Timed Test", "description": "This functional assessment measures the time needed to move 100 meters. All functional assessments were administered by a clinical evaluator. A decrease in time indicates an improvement in motor function.", "timeFrame": "Baseline, Week 48 (Part 1)"}, {"measure": "Change From Baseline at Week 12 in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression Measured by Immunofluorescence (IF) Fiber Intensity", "description": "Baseline muscle biopsies were performed pre-treatment and post-treatment (Week 12) on all participants. The change from baseline in delandistrogene moxeparvovec dystrophin expression in these muscle biopsy samples was determined using IF fiber intensity. Automated software was used to quantify the intensity of dystrophin expression post-treatment compared to pre-treatment and reviewed by trained evaluators. An increase in IF fiber intensity (percent control) indicates increased delandistrogene moxeparvovec dystrophin expression, relative to non-dystrophic muscle (the control).", "timeFrame": "Baseline, Week 12 (Part 1)"}, {"measure": "Change From Baseline at Week 12 in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression Measured by IF Percent Dystrophin Positive Fibers (PDPF)", "description": "Baseline muscle biopsies were performed pre-treatment and post-treatment (Week 12) 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. The number of muscle fibers expressing dystrophin was quantified by independent trained evaluators. An increase in IF PDPF indicates the number of muscle fibers with increased delandistrogene moxeparvovec dystrophin expression.", "timeFrame": "Baseline, Week 12 (Part 1)"}, {"measure": "Participants Experiencing Adverse Events (AEs) Since Treatment With Delandistrogene Moxeparvovec", "description": "Participants experiencing AEs are reported based upon the time to AE onset after delandistrogene moxeparvovec infusion. Each analysis set includes data from both arms and is based upon the Delandistrogene Moxeparvovec-treated Population: all participants who were treated with delandistrogene moxeparvovec in Part 1 or Part 2.\n\n'Delandistrogene Moxeparvovec switched over to Placebo' participants received delandistrogene moxeparvovec in Part 1, followed by placebo in Part 2. AEs experienced by participants during Parts 1, 2, and 3 of the study are reported.\n\n'Placebo switched over to Delandistrogene Moxeparvovec' participants received placebo in Part 1, followed by delandistrogene moxeparvovec in Part 2. AEs experienced by participants during Parts 2 and 3 of the study are reported.\n\nNo intervention was administered during Part 3. A summary of serious and all other non-serious AEs regardless of causality is located in the Reported Adverse Events module.", "timeFrame": "Day 1 through final study visit (approximately 4.6 years)"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":7,"Interventions":[{"type": "GENETIC", "name": "delandistrogene moxeparvovec", "description": "Single IV infusion of delandistrogene moxeparvovec", "armGroupLabels": ["Delandistrogene Moxeparvovec in Part 1 Followed by Placebo in Part 2", "Placebo in Part 1 Followed by Delandistrogene Moxeparvovec in Part 2"], "otherNames": ["SRP-9001", "delandistrogene moxeparvovec-rokl", "ELEVIDYS"]}, {"type": "GENETIC", "name": "placebo", "description": "Single IV infusion of matching placebo", "armGroupLabels": ["Delandistrogene Moxeparvovec in Part 1 Followed by Placebo in Part 2", "Placebo in Part 1 Followed by Delandistrogene Moxeparvovec in Part 2"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58],"Exons Eligible":[18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["37539981"],"See Also Links":["https://www.sarepta.com/sites/sarepta-corporate/files/2024-08/SRP-9001-102_English_PLSS_Final_23Aug2024.pdf"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Gene Replacement Therapy"},{"_id":25,"NCTID":"NCT06304064","Title":"Open-Label Extension of the Halt Cardiomyopathy Progression in Duchenne (HOPE-Duchenne) Trial (CAP-1002-DMD-03)","Organization Study ID":null,"Organization Full Name":"Capricor Inc.","Organization Class":"INDUSTRY","Brief Title":"Halt cardiomyOPathy progrEssion in Duchenne (HOPE-OLE)","Status Verified Date":"2024-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.\n\nThe trial will assess the safety and efficacy of two intravenous administrations of CAP-1002, each separated by three months.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Documented enrollment in the Usual Care Treatment Group of the HOPE-Duchenne trial and completion of trial follow-up through Month 12.\n2. 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.\n3. Adequate venous access for intravenous CAP-1002 infusions and routine blood collections in the judgement of the Investigator.\n4. Assessed by the Investigator as willing and able to comply with the requirements of the trial.\n\nExclusion Criteria:\n\n1. Left ventricular ejection fraction (LVEF) \\< 35 percent (%) within 6 months of screening.\n2. Planned or likely major surgery in the next 6 months after planned first infusion.\n3. 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.\n4. History of non DMD-related chronic respiratory disease including, but not limited to, asthma, bronchitis, and tuberculosis.\n5. Acute respiratory illness within 30 days prior to screening.\n6. Known hypersensitivity to dimethyl sulfoxide (DMSO) or bovine products.\n7. Treatment with investigational product \\<= 6 months prior to first infusion.\n8. History, or current use, of drugs or alcohol that could impair ability to comply with participation in the trial.\n9. Inability to comply with the investigational plan and follow-up visit schedule for any reason, in the judgment of the investigator.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-03-05","Study First Submit QC Date":"2024-03-05","Last Update Submit Date":"2024-03-29","Study First Post Date":"2024-03-12","Last Update Post Date":"2024-04-24","Start Date":"2018-06-21","Primary Completion Date":"2019-03-06","Completion Date":"2019-03-06","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This 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.\n\nThe trial will assess the safety and efficacy of two intravenous administrations of CAP-1002, each separated by three months.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":8,"Primary Outcome Measure":[{"measure": "Number of Participants Experiencing Acute Respiratory Decompensation", "description": "Acute 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.", "timeFrame": "2 hours post-dose on Day 1 and Month 3"}, {"measure": "Number of Participants With Hypersensitivity Reactions", "description": "Hypersensitivity 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.", "timeFrame": "From Day 1 up to Month 6"}, {"measure": "All-cause Mortality", "description": "Number of deaths due to any cause will be reported.", "timeFrame": "From Day 1 up to Month 6"}, {"measure": "Number of Treatment-emergent Adverse Events (TEAEs) Related to Investigational Product or Administration and Serious Adverse Events (SAEs)", "description": "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.", "timeFrame": "From Day 1 up to Month 6"}, {"measure": "Number of Participants With Immune Sensitization Syndrome", "description": "Immune 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.", "timeFrame": "From Day 1 up to Month 6"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":12,"Maximum Age (Years)":null,"Interventions":[{"type": "BIOLOGICAL", "name": "Allogeneic Cardiosphere-Derived Cells (CAP-1002)", "description": "Intravenous infusion delivery of Allogeneic Cardiosphere-Derived Cells (CAP-1002; 75 million CDCs)", "armGroupLabels": ["Allogeneic Cardiosphere-Derived Cells (CAP-1002)"], "otherNames": ["CAP-1002"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":26,"NCTID":"NCT01380964","Title":"Research of Biomarkers for Disease Diagnosis, Disease Monitoring and Therapeutic Treatment Response in Duchenne Muscular Dystrophy Patients","Organization Study ID":null,"Organization Full Name":"Genethon","Organization Class":"OTHER","Brief Title":"Research of Biomarkers in Duchenne Muscular Dystrophy Patients","Status Verified Date":"2016-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* FOR PATIENTS:\n* Diagnosis of DMD confirmed by genetic testing\n* Age over 3 years\n* Weight over 15 kg\n* Informed consent signed\n* FOR CONTROLS:\n* Age over 3 years\n* Male gender\n* Weight over 15 kg\n* Subjects with national health insurance coverage\n* Informed consent signed\n* Nonacute or chronic muscular, allergic, infectious, endocrine or inflammatory disorder in the 3 weeks preceding inclusion\n\nExclusion Criteria:\n\n* FOR PATIENTS:\n* Concomitant chronic or acute muscular, endocrine, infectious, allergic or inflammatory disorder in the three weeks preceding the blood test\n* 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\n* Mental retardation or autism\n* Vaccination or treatment with immunoglobulins within the three months preceding inclusion\n* FOR CONTROLS:\n* Concomitant chronic or acute muscular, neurological (including mental retardation and autism), infectious or inflammatory disorder in the three weeks preceding the blood test\n* Vaccination or treatment with immunoglobulins within the three months preceding inclusion","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2011-06-23","Study First Submit QC Date":"2011-06-23","Last Update Submit Date":"2016-08-16","Study First Post Date":"2011-06-27","Last Update Post Date":"2016-08-17","Start Date":"2011-06-01","Primary Completion Date":"2015-12-01","Completion Date":"2015-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":220,"Primary Outcome Measure":[{"measure": "IBiSD aims to identify and validate new and disease-specific biomarkers.", "description": "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).", "timeFrame": "End of study"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":3,"Maximum Age (Years)":20,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":27,"NCTID":"NCT05575648","Title":"Investigation of Dual Task Performance in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Dual Task in Duchenne Muscular Dystrophy","Status Verified Date":"2024-02-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Having been diagnosed with DMD by a pediatric neurologist,\n* Must be at least 6 years old and have the ability to walk 10 meters independently,\n* Being able to cooperate with the instructions given by the physiotherapist,\n* Not having undergone surgery in the last 6 months and not having any injuries,\n\nExclusion Criteria:\n\n* Failure to cooperate with the physiotherapist who made the evaluations,\n* Have had any injury and/or surgery in the last 6 months,\n* Children without consent will not be included.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-10-08","Study First Submit QC Date":"2022-10-08","Last Update Submit Date":"2024-02-26","Study First Post Date":"2022-10-12","Last Update Post Date":"2024-02-28","Start Date":"2022-09-06","Primary Completion Date":"2023-04-01","Completion Date":"2023-05-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":94,"Primary Outcome Measure":[{"measure": "Dual task performance- 10 meter walk test", "description": "The time is measured after 10 meter walk completed", "timeFrame": "only baseline"}, {"measure": "Dual task performance- 10 meter walk test with cognitive task", "description": "The time is measured after 10 meter walk with a cognitive (memory and mental) task completed", "timeFrame": "only baseline"}, {"measure": "Dual task performance- 10 meter walk test with motor task", "description": "The time is measured after 10 meter walk with a motor task completed", "timeFrame": "only baseline"}],"Secondary Outcome Measure":[{"measure": "Functional level- Brooke Lower Extremity Functional Classification", "description": "It 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).", "timeFrame": "only baseline"}, {"measure": "Ambulation level- North star ambulatory assessment", "description": "It 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.", "timeFrame": "only baseline"}, {"measure": "Performance- 6 minutes walk test", "description": "The 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.", "timeFrame": "only baseline"}, {"measure": "Balance - Pediatric berg balance scale", "description": "It 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.", "timeFrame": "only baseline"}, {"measure": "Balance - Four square step test", "description": "It 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.", "timeFrame": "only baseline"}, {"measure": "Fear of falling - Pediatric Fear of Falling Questionnaire", "description": "Its 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.", "timeFrame": "only baseline"}, {"measure": "Fall frequency", "description": "How many times children have fallen in the last week (fall frequency) will be recorded.", "timeFrame": "only baseline"}, {"measure": "Gait - Gait Evaluation Scale in Duchenne Muscular Dystrpohy", "description": "It 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).", "timeFrame": "only baseline"}, {"measure": "Gait - Gait Classification Scale in Duchenne Muscular Dystrpohy", "description": "It classifies gait with 5 levels, from Level 1 (Patient walks without compensation) to Level 5 (Patient cannot walk).", "timeFrame": "only baseline"}, {"measure": "Gait - Functional Evaluation Scale for Duchenne Muscular Dystrophy-Gait Domain", "description": "It 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.", "timeFrame": "only baseline"}, {"measure": "Cognitive level - Modified Mini Mental Test", "description": "The 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.", "timeFrame": "only baseline"}, {"measure": "Activity of daily living - The Functional Independence Measure for Children (WeeFIM)", "description": "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).", "timeFrame": "only baseline"}, {"measure": "Activity of daily living - ACTIVLIM", "description": "It 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.", "timeFrame": "only baseline"}, {"measure": "Quality of life - The Pediatric Quality of Life Inventory (PedsQL)-Neuromuscular Module Turkish version PedsQL-3.0", "description": "This 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.", "timeFrame": "only baseline"}],"Healthy Volunteers":true,"Minimum Age (Years)":6,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "10 meter walk test", "description": "To assess the dual task performance of children 10 meter walk test will be used.", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Healthy Subjects"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":28,"NCTID":"NCT03760029","Title":"A NATURAL HISTORY STUDY IN CHINESE MALE PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY","Organization Study ID":null,"Organization Full Name":"Pfizer","Organization Class":"INDUSTRY","Brief Title":"A Natural History Study In Chinese Male Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2024-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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:\n\n* Group 1, Ambulatory subjects aged \\<6 years, approximately 100 subjects;\n* Group 2, Ambulatory subjects aged \\>=6 years, approximately 180 subjects;\n* 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 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).\n2. 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.\n\nExclusion Criteria:\n\n1. 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.\n2. Presence or history of other musculoskeletal or neurologic disease or somatic disorder not related to DMD including pulmonary, cardiac, and cognitive diseases.\n3. Subjects \\>=4 years old who have not completed the varicella vaccination.\n4. 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.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-11-15","Study First Submit QC Date":"2018-11-28","Last Update Submit Date":"2024-09-09","Study First Post Date":"2018-11-30","Last Update Post Date":"2024-09-19","Start Date":"2019-07-24","Primary Completion Date":"2023-03-21","Completion Date":"2023-03-21","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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:\n\n* Group 1, Ambulatory subjects aged \\<6 years, approximately 100 subjects;\n* Group 2, Ambulatory subjects aged \\>=6 years, approximately 180 subjects;\n* 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":312,"Primary Outcome Measure":[{"measure": "Age of Participants When They Failed to Walk", "description": "Participant'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.", "timeFrame": "Up to Month 30"}, {"measure": "Age of Participants When They Failed to Stand", "description": "Participant'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.", "timeFrame": "Up to Month 30"}, {"measure": "Age of Participants When They Failed to Self-feed", "description": "Participant'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.", "timeFrame": "Up to Month 30"}, {"measure": "Change From Baseline in Northstar Ambulatory Assessment (NSAA) Total Score at Month 6: Ambulatory Participants Aged >=3 Years", "description": "NSAA 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in NSAA Total Score at Month 12: Ambulatory Participants Aged >=3 Years", "description": "NSAA 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in NSAA Total Score at Month 18: Ambulatory Participants Aged >=3 Years", "description": "NSAA 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in NSAA Total Score at Month 24: Ambulatory Participants Aged >=3 Years", "description": "NSAA 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in NSAA Total Score at Month 30: Ambulatory Participants Aged >=3 Years", "description": "NSAA 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Performance of Upper Limb (PUL) 2.0 Total Score at Month 6: Participants Aged >=10 Years", "description": "PUL 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in PUL 2.0 Total Score at Month 12: Participants Aged >=10 Years", "description": "PUL 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in PUL 2.0 Total Score at Month 18: Participants Aged >=10 Years", "description": "PUL 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in PUL 2.0 Total Score at Month 24: Participants Aged >=10 Years", "description": "PUL 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in PUL 2.0 Total Score at Month 30: Participants Aged >=10 Years", "description": "PUL 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Month 6: Ambulatory Participants Aged >=3 Years Only", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Month 12: Ambulatory Participants Aged >=3 Years Only", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Month 18: Ambulatory Participants Aged >=3 Years Only", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Month 24: Ambulatory Participants Aged >=3 Years Only", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Rise From Floor Velocity at Month 30: Ambulatory Participants Aged >=3 Years Only", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in 10 Meter Walk or Run Velocity at Month 6: Ambulatory Participants Aged >=3 Years", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in 10 Meter Walk or Run Velocity at Month 12: Ambulatory Participants Aged >=3 Years", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in 10 Meter Walk or Run Velocity at Month 18: Ambulatory Participants Aged >=3 Years", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in 10 Meter Walk or Run Velocity at Month 24: Ambulatory Participants Aged >=3 Years", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in 10 Meter Walk or Run Velocity at Month 30: Ambulatory Participants Aged >=3 Years", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Knee Extension of Muscle Strength at Month 6: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in Knee Extension of Muscle Strength at Month 12: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Knee Extension of Muscle Strength at Month 18: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in Knee Extension of Muscle Strength at Month 24: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Knee Extension of Muscle Strength at Month 30: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Elbow Flexion of Muscle Strength at Month 6: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in Elbow Flexion of Muscle Strength at Month 12: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Elbow Flexion of Muscle Strength at Month 18: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in Elbow Flexion of Muscle Strength at Month 24: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Elbow Flexion of Muscle Strength at Month 30: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Elbow Extension of Muscle Strength at Month 6: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in Elbow Extension Muscle Strength at Month 12: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Elbow Extension Muscle Strength at Month 18: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in Elbow Extension Muscle Strength at Month 24: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Elbow Extension Muscle Strength at Month 30: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Shoulder Abduction of Muscle Strength at Month 6: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in Shoulder Abduction of Muscle Strength at Month 12: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Shoulder Abduction of Muscle Strength at Month 18: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in Shoulder Abduction of Muscle Strength at Month 24: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Shoulder Abduction of Muscle Strength at Month 30: Participants Aged >=5 Years", "description": "Muscle 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Range of Motion (ROM) at Bilateral Ankles at Month 6", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in ROM at Bilateral Ankles at Month 12", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in ROM at Bilateral Ankles at Month 18", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in ROM at Bilateral Ankles at Month 24", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in ROM at Bilateral Ankles at Month 30", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in ROM at Bilateral Elbows at Month 6", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 6"}, {"measure": "Change From Baseline in ROM at Bilateral Elbows at Month 12", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in ROM at Bilateral Elbows at Month 18", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 18"}, {"measure": "Change From Baseline in ROM at Bilateral Elbows at Month 24", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in ROM at Bilateral Elbows at Month 30", "description": "Range 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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Percent Predicted Forced Vital Capacity (%pFVC) at Month 12: Participants Aged >=6 Years", "description": "Forced 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in %pFVC at Month 24: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in %pFVC at Month 30: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in %pFVC at Month 12: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in %pFVC at Month 24: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in %pFVC at Month 30: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Percent Predicted Forced Expiratory Volume in One Second (%pFEV1) at Month 12: Participants Aged >=6 Years", "description": "Forced 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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in %pFEV1 at Month 24: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in %pFEV1 at Month 30: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in %pFEV1 at Month 12: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in %pFEV1 at Month 24: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in %pFEV1 at Month 30: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Maximum Inspiratory Pressure at Month 12: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Maximum Inspiratory Pressure at Month 24: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Maximum Inspiratory Pressure at Month 30: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Maximum Expiratory Pressure at Month 12: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in SAP.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Maximum Expiratory Pressure at Month 24: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in SAP.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Maximum Expiratory Pressure at Month 30: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in SAP.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 12: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 24: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 30: Participants Aged >=6 Years", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 12: Participants Aged >=6 Years (Unplanned Analysis)", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 24: Participants Aged >=6 Years (Unplanned Analysis)", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Peak Cough Flow at Month 30: Participants Aged >=6 Years (Unplanned Analysis)", "description": "The pulmonary function assessments were performed only in participants \\>=6 years old as pre-specified in protocol. Incorrect data were addressed by unplanned analysis.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Left Ventricular Ejection Fraction (LVEF) at Month 12: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in LVEF at Month 24: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in LVEF at Month 30: Participants Aged >=6 Years", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in LVEF at Month 12: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in LVEF at Month 24: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in LVEF at Month 30: Participants Aged >=6 Years (Unplanned Analysis)", "description": "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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Wechsler Intelligence Scale for Children (WISC)-IV Score at Month 24: Ambulatory Participants >= 6 to <=16 Years", "description": "WISC-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.", "timeFrame": "Baseline (Day 1) and Month 24"}],"Secondary Outcome Measure":[{"measure": "Number of Participants With Type of DMD Mutation", "description": "Number 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.", "timeFrame": "Up to Month 30"}, {"measure": "Number of Participants With Each Affected Exon by Mutation Types", "description": "Number 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.", "timeFrame": "Up to Month 30"}, {"measure": "Number of Participants With DMD Mutations Affecting Any Exon Between Exon 9 and Exon 13 or Deletion That Affects Both Exon 29 and Exon 30", "description": "Number 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.", "timeFrame": "Up to Month 30"}, {"measure": "Change 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 30", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Months 6, 12, 18, 24 and 30"}, {"measure": "Change From Baseline in PODCI Global Functioning Scale and Each Core Scale Score (Adolescent Parent Report) at Months 6, 12, 18, 24 and 30", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Months 6, 12, 18, 24 and 30"}, {"measure": "Change From Baseline in PODCI Global Functioning Scale and Each Core Scale Score (Adolescent Self Report) at Months 6, 12, 18, 24 and 30", "description": "The 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.", "timeFrame": "Baseline (Day 1) and Months 6, 12, 18, 24 and 30"}, {"measure": "Number of Participants According to Response to Each European Quality of Life (EuroQoL) 5 Dimension 3 Level (EQ-5D-3L) 5 Dimensions at Month 12", "description": "EQ-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.", "timeFrame": "Months 12"}, {"measure": "Number of Participants According to Response to Each EQ-5D-3L 5 Dimensions at Month 24", "description": "EQ-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.", "timeFrame": "Month 24"}, {"measure": "Number of Participants According to Response to Each EQ-5D-3L 5 Dimensions at Month 30", "description": "EQ-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.", "timeFrame": "Month 30"}, {"measure": "Change From Baseline in EQ-5D-3L Visual Analogue Score (VAS) Assessment at Months 12, 24 and 30", "description": "EQ-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.", "timeFrame": "Baseline (Day 1) and Months 12, 24 and 30"}, {"measure": "Change From Baseline in EQ-5D-3L Index Score at Months 12, 24 and 30", "description": "EQ-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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Number of Participants According to Response to Each EuroQoL 5 Dimension Youth (EQ-5D-Y) 5 Dimensions at Month 12", "description": "EQ-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.", "timeFrame": "Month 12"}, {"measure": "Number of Participants According to Response to Each EQ-5D-Y 5 Dimensions at Month 24", "description": "EQ-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.", "timeFrame": "Month 24"}, {"measure": "Number of Participants According to Response to EQ-5D-Y 5 Dimensions at Month 30", "description": "EQ-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.", "timeFrame": "Month 30"}, {"measure": "Change From Baseline in EQ-5D-Y VAS Assessment at Months 12, 24, and 30", "description": "EQ-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).", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change From Baseline in EQ-5D-Y Index Score at Months 12, 24, and 30", "description": "EQ-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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change From Baseline in Healthcare Resource Utilization (HRU) Survey Responses: Visit to Primary Care Physician, Emergency Room and Office Visits at Months 12, 24, and 30", "description": "HRU 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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change From Baseline in HRU Survey Responses: Number of Nights in Hospital Due to Disease/Medication for Disease at Months 12, 24, and 30", "description": "HRU 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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change From Baseline in Out-of-Pocket Money of HRU Survey at Months 12, 24 and 30", "description": "Caregivers 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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change 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 30", "description": "WPAI: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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 12", "description": "WPAI: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.", "timeFrame": "Baseline (Day 1) and Month 12"}, {"measure": "Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 24", "description": "WPAI: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.", "timeFrame": "Baseline (Day 1) and Month 24"}, {"measure": "Change From Baseline in Percent Work Time Missed as Per WPAI: CG Caregiver Unchanged at Month 30", "description": "WPAI: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.", "timeFrame": "Baseline (Day 1) and Month 30"}, {"measure": "Change From Baseline in Percent Overall Work Impairment WPAI: CG Caregiver Unchanged at Months 12, 24, and 30", "description": "WPAI: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.", "timeFrame": "Baseline (Day 1) and Months 12, 24, and 30"}, {"measure": "Percent Activity Impairment Score as Per WPAI: CG at Months 12, 24, and 30", "description": "WPAI: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.", "timeFrame": "Months 12, 24, and 30"}, {"measure": "Percent Work Time Missed Score as Per WPAI: CG at Month 12", "description": "WPAI: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.", "timeFrame": "Month 12"}, {"measure": "Percent Work Time Missed Score as Per WPAI: CG at Month 24", "description": "WPAI: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.", "timeFrame": "Month 24"}, {"measure": "Percent Work Time Missed Score as Per WPAI: CG at Month 30", "description": "WPAI: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.", "timeFrame": "Month 30"}, {"measure": "Percent Overall Work Impairment Scores as Per WPAI: CG at Months 12, 24, and 30", "description": "WPAI: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.", "timeFrame": "Months 12, 24, and 30"}],"Healthy Volunteers":false,"Minimum Age (Years)":0,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "Visit frequency", "description": "All subjects need to visit sites more frequently than in routine clinical practice.", "armGroupLabels": ["Study arm"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["41926354", "38089167"],"See Also Links":["https://pmiform.com/clinical-trial-info-request?StudyID=C3391004"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":29,"NCTID":"NCT05601986","Title":"Investigation of the Effect of Motor Imagery on Gait and Balance Functions in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Halic University","Organization Class":"OTHER","Brief Title":"Motor Imagery on Children With DMD on Gait and Balance Functions","Status Verified Date":"2024-02-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Have a physician-prescribed diagnosis of Duchenne Muscular Dystrophy\n* Not having any injury or surgical operation in the last 6 months\n* Being between Levels 1-5 (children who continue to ambulate independently) according to - Brooke Lower Extremity Functional Classification Modified Mini-Mental Test score \\>27\n* Having the level of cooperation to follow the physiotherapist's instructions\n* Volunteering to participate in research\n\nExclusion Criteria:\n\n* Having severe contractures that interfere with functional activities\n* Level 6-10 (children not capable of independent ambulation) according to the Brooke Lower Extremity Functional Classification\n* To receive applications in addition to the physiotherapy and rehabilitation program or different from the physiotherapy and rehabilitation program","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-10-20","Study First Submit QC Date":"2022-10-31","Last Update Submit Date":"2024-02-28","Study First Post Date":"2022-11-01","Last Update Post Date":"2024-02-29","Start Date":"2022-12-16","Primary Completion Date":"2024-07-01","Completion Date":"2024-12-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":34,"Primary Outcome Measure":[{"measure": "gait analysis1", "description": "Change from Baseline Stride length in meters", "timeFrame": "one week before the intervention and one week after the intervention"}, {"measure": "gait analysis2", "description": "Change from Baseline stride width in meters", "timeFrame": "one week before the intervention and one week after the intervention"}, {"measure": "gait analysis3", "description": "Change from Baseline Systolic cadence", "timeFrame": "one week before the intervention and one week after the intervention"}, {"measure": "gait analysis4", "description": "Change from Baseline walking speed in meters/second", "timeFrame": "one week before the intervention and one week after the intervention"}, {"measure": "balance", "description": "Change from Baseline Pediatric Balance Scale in grades 0-56 points", "timeFrame": "one week before the intervention and one week after the intervention"}],"Secondary Outcome Measure":[{"measure": "muscle strength measurement", "description": "Strength measurements of lower extremity muscles", "timeFrame": "one week before the intervention and one week after the intervention"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Physiotherapy and Rehabilitation Program", "description": "The program will be held for 8 weeks, 2 days a week, with 40-minute sessions. Relaxation phase: Progressive relaxation. Stretching phase: Stretching exercises for the muscles of the gastrocnemius, hamstrings, hip flexors, hip adductors Strengthening phase: Isometric strengthening exercises for the tibialis anterior, quadriceps, hip extensors, and hip abductors muscles.\n\nBalance training phase: Two legs, one leg, balance with eyes open and eyes closed.\n\nWeight-bearing phase: Weight transfer to the front, back, and sides using the balance board.", "armGroupLabels": ["Additional Motor Imagery Training to Physiotherapy and Rehabilitation Program", "Physiotherapy and Rehabilitation Program"], "otherNames": ["Control group"]}, {"type": "OTHER", "name": "Additional Motor Imagery Training to Physiotherapy and Rehabilitation Program", "description": "The program will be held for 8 weeks, 2 days a week, with 40-minute sessions. Relaxation phase, Stretching phase, Strengthening phase,Balance training phase and Weight-bearing phase. Additional to the Physiotherapy and Rehabilitation Program, the Additional Motor Imagery Training program will be carried out for 8 weeks, 2 days a week, in addition to the 40-minute physiotherapy and rehabilitation program, accompanied by 25-30 minutes of supervision. It will be conducted by the researcher on two non-consecutive days of the week, by making appropriate appointments for the participants. During the program, participants will be asked to be in a quiet room. Sessions will consist of 4 consecutive phases: video watching, relaxation, motor imagery, and return to the environment.", "armGroupLabels": ["Additional Motor Imagery Training to Physiotherapy and Rehabilitation Program"], "otherNames": ["Intervention group"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":30,"NCTID":"NCT05280730","Title":"Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Virginia Commonwealth University","Organization Class":"OTHER","Brief Title":"Assessment of Neurodevelopmental Needs in Duchenne Muscular Dystrophy","Status Verified Date":"2025-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne 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.\n\nThe 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Boys with confirmed genetic mutation in the dystrophin gene\n* Boys with clinical features of DMD and in whom muscle biopsy showed absence of dystrophin\n* Boys with clinical features of DMD and in whom there is a family history of DMD\n* Symptomatic carrier girls with DMD\n* Ages 3 and above at time of study screening\n\nExclusion Criteria:\n\n* Care-giver unable to give consent\n* Any handicap that does not allow the ability to use an IPAD\n* For MRI, braces or any metal implants.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-03-04","Study First Submit QC Date":"2022-03-04","Last Update Submit Date":"2025-08-12","Study First Post Date":"2022-03-15","Last Update Post Date":"2025-08-14","Start Date":"2022-02-02","Primary Completion Date":"2024-09-30","Completion Date":"2024-09-30","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne 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.\n\nThe 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":50,"Primary Outcome Measure":[{"measure": "Change in NIHTB-CB Total Cognition Score over time", "timeFrame": "baseline and 18 months"}, {"measure": "Change in brain connectivity over time", "description": "Change in brain connectivity as measured by brain MRI", "timeFrame": "baseline and 12 months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":3,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "No intervention", "description": "There is no intervention", "armGroupLabels": ["Boys with DMD"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":31,"NCTID":"NCT03236662","Title":"UCD0115B: An Open-label Extension Study of Purified Epicatechin to Improve Mitochondrial Function, Strength and Skeletal Muscle Exercise Response in Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of California, Davis","Organization Class":"OTHER","Brief Title":"(-)- Epicatechin Becker Muscular Dystrophy","Status Verified Date":"2021-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Prior participation in UCD0113 BMD epicatechin pilot study\n* Male\n* Age 18 years to 70 years\n* Average to low daily physical activity\n* Ability to ambulate for 75 meters without assistive devices\n* Diagnosis of BMD confirmed by at least one the following:\n* Dystrophin immunofluorescence and/or immunoblot showing partial dystrophin deficiency, and clinical picture consistent with typical BMD, or\n* 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\n* 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\n* 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.\n* Hematology profile within normal range\n* Baseline laboratory safety chemistry profile within normal range\n* No plan to change exercise regimen during study participation\n* 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).\n\nExclusion Criteria:\n\n* Currently enrolled in another treatment clinical trial.\n* History of significant concomitant illness or significant impairment of renal or hepatic function.\n* Use of regular daily aspirin or other medication with antiplatelet effects within 3 weeks of first dose of study medication.\n* Regular participation in vigorous exercise.\n* Symptomatic heart failure with cardiac ejection fraction \\<25%","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2016-11-07","Study First Submit QC Date":"2017-07-28","Last Update Submit Date":"2021-11-22","Study First Post Date":"2017-08-02","Last Update Post Date":"2021-11-24","Start Date":"2016-11-01","Primary Completion Date":"2017-11-01","Completion Date":"2017-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This 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.","Conditions":"Becker Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":2,"Primary Outcome Measure":[{"measure": "Plasma Follistatin", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma Myostatin", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma Nitrates/ SNO", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma BNP", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma Creatine Kinase", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma MMP-9", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma TNF-Alpha", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma TGF-Beta", "description": "blood biomarker concentration", "timeFrame": "48 weeks"}, {"measure": "Plasma Follistatin:Myostain Ratio", "description": "Ratio of plasma follistatin to plasma myostatin", "timeFrame": "48 weeks"}],"Secondary Outcome Measure":[{"measure": "Graded Exercise Test Using a Recumbent Cycle Ergometer", "description": "blood lactate measured", "timeFrame": "baseline and at 2-minute intervals"}, {"measure": "6-minute Walk Test", "description": "Measurements recorded will include 25-meter split times and total distance traveled.", "timeFrame": "48 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":70,"Interventions":[{"type": "DRUG", "name": "(-)-Epicatechin", "armGroupLabels": ["Treatment"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":32,"NCTID":"NCT03655223","Title":"Early Check: A Collaborative Innovation to Facilitate Pre-Symptomatic Clinical Trials in Newborns","Organization Study ID":null,"Organization Full Name":"RTI International","Organization Class":"OTHER","Brief Title":"Early Check: Expanded Screening in Newborns","Status Verified Date":"2024-12-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"Early 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Newborn has newborn screening in North Carolina\n* Newborn lives in North Carolina or South Carolina\n* Newborn is less than 31 days old\n* Person giving consent must have legal custody of the newborn. When the mother retains custody, they must be the person to give consent.\n* Person giving consent must be able to interact with the online permission portal (available in English and Spanish) and give permission online\n\nExclusion Criteria:\n\n* A newborn screening (NBS) sample is unavailable for the newborn\n* Insufficient NBS sample remains to conduct the screening","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-08-16","Study First Submit QC Date":"2018-08-29","Last Update Submit Date":"2025-03-31","Study First Post Date":"2018-08-31","Last Update Post Date":"2025-04-04","Start Date":"2018-10-15","Primary Completion Date":"2025-11-30","Completion Date":"2025-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":true,"Detailed Description":"Early 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.","Conditions":"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 Disease","Phases":null,"Enrollment Count":30000,"Primary Outcome Measure":[{"measure": "Incidence Rates: Number of newborns who screen positive comparative to the whole sample", "description": "Incidence rates of infants who screen positive for conditions on the Early Check panel.", "timeFrame": "Every 6 months for approximately three years"}],"Secondary Outcome Measure":[{"measure": "Impact of Screening: Semi-structured parent interviews.", "description": "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.", "timeFrame": "Measured within 6 months of participant screening results"}],"Healthy Volunteers":true,"Minimum Age (Years)":1,"Maximum Age (Years)":31,"Interventions":[{"type": "DIAGNOSTIC_TEST", "name": "Confirmatory Testing", "description": "If a newborn's screening test is positive, an experienced genetic counselor will contact the infant's mother by phone to explain the positive screening result and arrange for confirmatory testing and a follow-up appointment. If the confirmatory test is positive, then the child receives a diagnosis of the disease. Children identified with a disorder are referred for treatment, their parents receive information and counseling on what a positive diagnosis means for their child, and they are offered participation in follow-up and registry activities for the disorder.", "armGroupLabels": ["Newborn infants born in North Carolina"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["23074686", "35142618", "31315600"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":33,"NCTID":"NCT07429240","Title":"A Phase 1/2a, Multi-center, Open-label Study to Evaluate the Safety, Tolerability, and Preliminary Efficacy of PBGENE-DMD in Participants With Duchenne Muscular Dystrophy (FUNCTION-DMD)","Organization Study ID":null,"Organization Full Name":"Precision BioSciences, Inc.","Organization Class":"INDUSTRY","Brief Title":"PBGENE-DMD Phase 1/2a Safety and Preliminary Efficacy Study in Duchenne Muscular Dystrophy (FUNCTION-DMD)","Status Verified Date":"2026-04-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55. Given the limitations of existing therapeutic strategies, PBGENE-DMD represents a novel, innovative approach with the potential for a one-time, durable correction of the underlying genetic defect in the largest molecular subset of patients with DMD.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Males, 2 to 7 years of age, inclusive, at the time of informed consent/assent\n2. Molecular confirmed DMD diagnosis (DMD mutation fully contained between exons 45 to 55 \\[inclusive\\])\n3. Clinical phenotype consistent with DMD in the opinion of the Investigator\n4. Ability to complete age-appropriate motor testing assessments requirements.\n\n   Participants aged 2 to \\< 4 years at the time of screening must:\n   1. Be able to walk at least 10 meters independently (without assistive devices).\n   2. Be able to rise from the floor without physical assistance (use of a Gowers' maneuver is acceptable).\n\n      Participants aged 4 to 7 years at the time of screening must:\n   3. Be able to walk at least 100 meters independently (without assistive devices).\n   4. Have an NSAA total score between 16 and 29, inclusive.\n5. Participant has received age-appropriate routine childhood immunizations per the local country's national immunization schedule.\n6. The participant's parent(s)/LAR(s) are willing and able to provide written informed consent prior to the initiation of any trial-specific procedures; where applicable, the participant must provide written or verbal assent in accordance with local regulations.\n7. The participant and their parent(s)/LAR(s) are willing to participate in a LTFU study after the completion of this trial.\n\nExclusion Criteria:\n\n1. Prior treatment with any gene therapy, gene editing therapy, or cell-based therapy at any time.\n2. Receipt of any investigational medication or experimental therapy within 6 months prior to Day 1.\n3. Prior or ongoing use of any product designed to increase dystrophin expression, investigational, or otherwise, including exon-skipping therapies, within 6 months of the scheduled Day 1 dose or inability or unwillingness to refrain from initiating or resuming these therapies for at least 5 years following gene therapy administration.\n4. Prior ongoing use of any product designed to increase dystrophin expression, investigational, or otherwise, including exon-skipping therapies, within 6 months of the scheduled Day 1 dose.\n5. Concurrent enrollment in another clinical trial, unless it is observational (non-interventional).\n6. A positive test for antibodies to AAV9\n7. A participant has any condition that would contraindicate treatment with immunosuppression.\n8. Participants with pathogenic mutations in exons 1-44 and/or exons 56-79.\n9. Evidence of cardiomyopathy or clinically significant left ventricular dysfunction, defined as LVEF \\<50% on screening echocardiogram.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-02-17","Study First Submit QC Date":"2026-02-17","Last Update Submit Date":"2026-04-29","Study First Post Date":"2026-02-24","Last Update Post Date":"2026-04-30","Start Date":"2026-04-24","Primary Completion Date":"2029-11-01","Completion Date":"2029-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The purpose of this Phase 1/2a trial is to evaluate the safety, tolerability, and preliminary efficacy of PBGENE-DMD in patients with DMD harboring mutations amenable to excision of exons 45-55. Given the limitations of existing therapeutic strategies, PBGENE-DMD represents a novel, innovative approach with the potential for a one-time, durable correction of the underlying genetic defect in the largest molecular subset of patients with DMD.","Conditions":"Duchenne Muscular Dystrophy With Mutations Amenable to PBGENE-DMD","Phases":["PHASE1", "PHASE2"],"Enrollment Count":18,"Primary Outcome Measure":[{"measure": "Incidence, severity, and causality of treatment-emergent adverse events and serious adverse events", "description": "Adverse events and serious adverse events that occur or worsen after initiation of the investigational treatment", "timeFrame": "From Dosing through Week 104"}],"Secondary Outcome Measure":[{"measure": "Dystrophin expression in skeletal muscle", "description": "Measurement of Biologic activity of PBGENE-DMD through dystrophin expression in skeletal muscle", "timeFrame": "Week 12, Week 52"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":7,"Interventions":[{"type": "BIOLOGICAL", "name": "PBGENE-DMD (IV)", "description": "Participants will receive a single dose of PBGENE-DMD", "armGroupLabels": ["Experimental- Part 1 (Initial Safety) & Part 2 (Expansion) cohort"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79],"Exons Eligible":[45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55],"Exons Non Eligible":[1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Gene Replacement Therapy"},{"_id":34,"NCTID":"NCT02851797","Title":"Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Italfarmaco","Organization Class":"INDUSTRY","Brief Title":"Clinical Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2023-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Primary Objective\n\nThe 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.\n\nSecondary Objectives\n\nThe secondary objectives of this study were:\n\n* To assess the safety and tolerability of givinostat versus placebo administered chronically in DMD subjects\n* To evaluate the PK profile of givinostat administered chronically in DMD subjects\n* To evaluate the impact on quality of life (QoL) and activities of daily living of givinostat versus placebo administered chronically.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 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;\n2. Have DMD diagnosis confirmed by genetic testing;\n3. Are able to give informed assent and/or consent in writing signed by the subject and/or parent/legal guardian (according to local regulations);\n4. 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;\n5. Have the mean of 2 screening 4SC assessments ≤8 seconds;\n6. Have time to rise from floor between ≥3 and \\<10 seconds at screening\n7. Have manual muscle testing (MMT) of quadriceps at screening Grade ≥- 3;\n8. 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.\n9. Subjects must be willing to use adequate contraception.\n\nExclusion Criteria:\n\n1. Have exposure to another investigational drug within 3 months prior to the start of study treatment;\n2. Have exposure to idebenone within 3 months prior to the start of study treatment;\n3. Have exposure to any dystrophin restoration product (e.g., Ataluren, Exon skipping) within 6 months prior to the start of study treatment;\n4. 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;\n5. 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;\n6. 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;\n7. 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;\n8. 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;\n9. Have a diagnosis of other uncontrolled neurological diseases or presence of relevant uncontrolled somatic disorders that are not related to DMD;\n10. Have platelets count at screening \\< Lower Limit of Normal (LLN);\n11. Have symptomatic cardiomyopathy or heart failure (New York Heart Association Class III or IV) or left ventricular ejection fraction \\<50% at screening;\n12. Have a current or history of liver disease or impairment;\n13. Have inadequate renal function, as defined by serum Cystatin C \\>2 x the upper limit of normal (ULN);\n14. Have Triglycerides \\> 300 mg/dL (3.42 mmol/L) in fasting condition at screening visit;\n15. Have a positive test for hepatitis B surface antigen, hepatitis C antibody, or human immunodeficiency virus at screening15.\n16. 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);\n17. 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;\n18. Have any hypersensitivity to the components of study medication;\n19. Have a sorbitol intolerance or sorbitol malabsorption, or have the hereditary form of fructose intolerance.\n20. Have contraindications to MRI or MRS (e.g., claustrophobia, metal implants, or seizure disorder).\n\nAt 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.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2016-07-27","Study First Submit QC Date":"2016-07-28","Last Update Submit Date":"2023-01-09","Study First Post Date":"2016-08-02","Last Update Post Date":"2023-02-02","Start Date":"2017-06-06","Primary Completion Date":"2022-02-22","Completion Date":"2022-02-22","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"Primary Objective\n\nThe 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.\n\nSecondary Objectives\n\nThe secondary objectives of this study were:\n\n* To assess the safety and tolerability of givinostat versus placebo administered chronically in DMD subjects\n* To evaluate the PK profile of givinostat administered chronically in DMD subjects\n* To evaluate the impact on quality of life (QoL) and activities of daily living of givinostat versus placebo administered chronically.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":179,"Primary Outcome Measure":[{"measure": "Mean Change From Baseline in 4 Standard Stairs (4SC) Climb After 18 Months of Treatment", "description": "The 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.", "timeFrame": "Baseline and 18 months"}],"Secondary Outcome Measure":[{"measure": "Mean Change From Baseline in Time to Rise From Floor After 18 Months of Treatment", "description": "An 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.", "timeFrame": "Baseline and 18 months"}, {"measure": "Mean Change From Baseline in the Six-minute Walking Test (6MWT) After 18 Months of Treatment", "description": "This test measures the distance that a patient can quickly walk on a flat, hard surface in a period of 6 minutes.\n\nThe 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.\n\nThe longer the walked distance the better the outcome.", "timeFrame": "Baseline and 18 months"}, {"measure": "Mean Change From Baseline in Total North Star Ambulatory Assessment (NSAA) Score After 18 Months of Treatment", "description": "The 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).", "timeFrame": "Baseline and 18 months"}, {"measure": "Cumulative Loss of Function on the NSAA", "description": "Subject cumulative number of failures across all postbaseline visits was the endpoint of interest for analysis.\n\nFor 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.", "timeFrame": "over 18 months"}, {"measure": "Mean Change From Baseline of Muscle Strength Normalized Overtime", "description": "The 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).", "timeFrame": "Baseline and 18 months"}, {"measure": "Mean Change From Baseline in Vastus Lateralis Muscle Fat Fraction (VL MFF) at 18 Months", "description": "Vastus lateralis muscle fat fraction (VL MFF) was expressed as fat infiltration in this muscle. Fat infiltration was assessed by Magnetic Resonance (MRS).", "timeFrame": "Baseline and 18 months"}, {"measure": "Number of Subjects Experiencing Treatment-emergent AEs (TEAEs), Serious AEs (SAEs), Mild TEAE Moderate TEAE, Severe TEAE", "description": "Adverse 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.\n\nSerious 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.", "timeFrame": "Baseline through end of study, that is the end of 18\u00b0 month"}, {"measure": "Evaluation of Acceptability/Palatability of the Oral Suspension", "description": "Acceptability 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.", "timeFrame": "Week 4, EOS, early withdrawal"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":17,"Interventions":[{"type": "DRUG", "name": "givinostat", "description": "The oral suspension of givinostat (10 mg/mL) was to be dosed in fed condition as described below:\n\nGivinostat or placebo starting dose\n\n* \\> or =10 and \\< 12.5 kg of weight: 13.3 mg bid = 1.3 ml oral suspension bid\n* \\> or =12.5 and \\< 20 kg: 16.7 mg bid =1.7 ml oral suspension bid\n* \\> or = 20 and \\< 25 kg: 20 mg bid = 2.0 ml oral suspension bid\n* \\> or = 25 and \\< 30 kg: 23.3 mg bid = 2.3 ml oral suspension bid\n* \\> or = 30 and \\< 40 kg: 26.7 mg bid = 2.7 ml oral suspension bid\n* \\> or = 40 and \\< 50 kg: 33.3 mg bid = 3.3 ml oral suspension bid\n* \\> or = 50 and \\< 60 kg: 36.7 mg bid = 3.7 ml oral suspension bid\n* \\> or = 60 and \\< 70 kg: 40 mg bid = 4 ml oral suspension bid\n* \\> or = 70 kg: 46.7 mg bid = 4.7 ml oral suspension bid", "armGroupLabels": ["givinostat"], "otherNames": ["ITF2357"]}, {"type": "DRUG", "name": "placebo", "description": "The oral suspension of placebo, manufactured to mimic givinostat, was to be dosed in fed condition as described for givinostat.", "armGroupLabels": ["placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["38508835"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":35,"NCTID":"NCT04335942","Title":"Characterization of the Postural Habits of Wheelchair Users in an Ecological Situation and Analysis of the Acceptability of International Recommendations in the Prevention of Pressure Sores Risk by Using a Connected Textile Sensor Integrating an Artificial Intelligence Algorithm","Organization Study ID":null,"Organization Full Name":"Assistance Publique - Hôpitaux de Paris","Organization Class":"OTHER","Brief Title":"Characterization 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 Sensor","Status Verified Date":"2023-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Spinal 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.\n\nThe 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Men or women over 18 years of age,\n* Daily user of a FR (more than 3 hours per day):\n\n  * Persons with Duchenne Muscular Dystrophy (DMD) or DMB using an FRE,\n  * People with Infant Spinal Muscular Atrophy (ISA) using an FRE,\n  * WB persons using an MRA with sensitivity disorders (ASIA A).\n* FRE allowing a switchover of at least:\n\n  * 25° of the seat and 120° of the backrest,\n  * 45° of sitting in one block,\n* Patient who has signed an informed and written consent,\n* Affiliation to a social security scheme (beneficiary or beneficiary).\n\nExclusion Criteria:\n\n* Refusal of the patient to participate in the study,\n* School level lower than cycle 3 not allowing to understand the use of the embedded device,\n* Severe incontinence,\n* BM without sensitivity disorders,\n* Participant in another study or therapeutic trial,\n* Patient under guardianship or curatorship,\n* Pregnant women.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-11-22","Study First Submit QC Date":"2020-04-02","Last Update Submit Date":"2023-08-30","Study First Post Date":"2020-04-07","Last Update Post Date":"2023-08-31","Start Date":"2021-09-30","Primary Completion Date":"2023-06-01","Completion Date":"2023-06-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Spinal 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.\n\nThe 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.","Conditions":"Duchenne Muscular Dystrophy;Spinal Muscular Atrophy","Phases":["NA"],"Enrollment Count":36,"Primary Outcome Measure":[{"measure": "Evaluate 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 situation", "description": "Primary 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.", "timeFrame": "14 days"}],"Secondary Outcome Measure":[{"measure": "the differences in occupational performance at the MCRO (Mesure canadienne du rendement occupationnel) score", "description": "Analyze the differences in occupational performance at the MCRO score. An improvement in MCRO score will mean an improvement of occupational performance in psychosocial dimensions.", "timeFrame": "14 days"}, {"measure": "the impact of visual biofeedback of the pressure print on chair", "description": "Quantify the impact of visual biofeedback of the pressure print on chair positioning by modification of the seat within 5 minutes following the visual cartography consultation", "timeFrame": "14 days"}, {"measure": "Feasibility study of integrating international recommendations to reduce the risk of pressure ulcers in a medical device", "description": "the 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 imprint", "timeFrame": "14 days"}, {"measure": "the study of the acceptability by the patient of alerts in relation with international recommendations", "description": "the 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 alerts", "timeFrame": "14 days"}, {"measure": "the study of the acceptability by the patient of alerts in relation with international recommendations", "description": "the 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 alerts", "timeFrame": "14 days"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "Alert \"AFNOR 3.6\".", "description": "This alert corresponds to the quantification of the percentage of weight on the slick distributed over a small area (55% on one to three zones totalling 30cm2),", "armGroupLabels": ["AFNOR 3.6 alerts"]}, {"type": "OTHER", "name": "Alertes \" AFNOR 3.6 \" et alertes \" Guidelines \".", "description": "By alertes Guidelines we mean the clinical recommendations of the Spinal Cord medicine association, i.e. weight relief every 15 to 30 minutes over a period of 1 minute 51 for spinal cord injuries. For patients who do not push up, a tilt of at least 25\u00b0 of seat and 120\u00b0 of backrest or a minimum of 45\u00b0 in one block.", "armGroupLabels": ["AFNOR 3.6 alerts and Guidelines"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["3894415", "17136445", "17385269"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":36,"NCTID":"NCT04371666","Title":"A Phase 3, Randomized, Double-Blind Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Subjects With Non-ambulatory Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"Kyntra Bio","Organization Class":"INDUSTRY","Brief Title":"Phase 3 Trial of Pamrevlumab or Placebo With Systemic Corticosteroids in Participants With Non-ambulatory Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2024-02-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"To 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).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Males at least 12 years of age, non-ambulatory at screening initiation\n2. Written consent by participant and/or legal guardian as per regional/ country and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements\n3. 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.\n4. Medical history includes diagnosis of DMD and confirmed Duchenne mutation using a validated genetic test\n5. Brooke Score for Arms and Shoulders ≤5\n6. Able to undergo MRI test for the upper arm extremities (Biceps Brachii muscle) and cardiac muscle\n7. Able to perform spirometry\n8. Average (of Screening and Day 0) percent predicted forced vital capacity (FVC) between 45 and 85, inclusive\n9. Left ventricular ejection fraction ≥50% as determined by local cardiac MRI read at screening or within 3 months prior to randomization (Day 0)\n10. 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.\n11. 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.\n12. Agreement to receive annual influenza vaccinations during the course of the study.\n13. Adequate renal function: cystatin C ≤1.4 mg/liter (L)\n14. Adequate hematology and electrolytes parameters:\n\n    1. Platelets \\>100,000/microliter (μL)\n    2. Hemoglobin \\>12 grams (g)/deciliter (dL)\n    3. Absolute neutrophil count \\>1500/μL\n    4. Serum calcium (Ca), potassium (K), sodium (Na), magnesium (Mg) and phosphorus (P) levels are within a clinically accepted range for DMD participants.\n15. Adequate hepatic function:\n\n    1. No history or evidence of liver disease\n    2. Gamma glutamyl transferase (GGT) ≤3x upper limit of normal (ULN)\n    3. Total bilirubin ≤1.5xULN\n\nExclusion Criteria:\n\n1. Previous exposure to pamrevlumab\n2. BMI ≥40 kg/square meter (m\\^2) or weight \\>117 kg\n3. History of:\n\n   1. allergic or anaphylactic reaction to human, humanized, chimeric or murine monoclonal antibodies\n   2. hypersensitivity to study drug or any component of study drug\n   3. hypersensitivity reaction to Gadolinium-based Contrast Agents (GBCA) required for MRI acquisition\n4. 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\n5. Severe uncontrolled heart failure (NYHA Classes III-IV), or renal dysfunction, including any of the following:\n\n   1. Need for intravenous diuretics or inotropic support within 8 weeks prior to screening\n   2. Hospitalization for a heart failure exacerbation or arrhythmia within 8 weeks prior to screening\n   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\n6. Arrhythmia requiring anti-arrhythmic therapy\n7. Requires ≥16 hours continuous ventilation\n8. Hospitalization due to respiratory failure within the 8 weeks prior to screening\n9. 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\n10. 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 conditions","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2020-04-29","Study First Submit QC Date":"2020-04-29","Last Update Submit Date":"2024-02-13","Study First Post Date":"2020-05-01","Last Update Post Date":"2024-03-12","Start Date":"2020-08-10","Primary Completion Date":"2023-02-13","Completion Date":"2023-08-17","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"To 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).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":98,"Primary Outcome Measure":[{"measure": "Change From Baseline in the Total Score of Performance of Upper Limb (PUL) 2.0 Version at Week 52", "description": "The 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.", "timeFrame": "Baseline, Week 52"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in Percent Predicted Forced Vital Capacity (ppFVC) at Week 52, Assessed by Spirometry", "description": "FVC 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.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in the Grip Strength of the Hands at Week 52, Assessed by Hand Held Myometry (HHM)", "description": "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).", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Left Ventricular Ejection Fraction Percentage (LVEF %) at Week 52, Assessed by Magnetic Resonance Imaging (MRI)", "description": "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.", "timeFrame": "Baseline, Week 52"}, {"measure": "Change From Baseline in Percent Predicted Peak Expiratory Flow (ppPEF) at Week 52, Assessed by Spirometry", "description": "The 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.", "timeFrame": "Baseline, Week 52"}],"Healthy Volunteers":false,"Minimum Age (Years)":12,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Pamrevlumab", "description": "Pamrevlumab per dose and schedule specified in the arm description", "armGroupLabels": ["Pamrevlumab"], "otherNames": ["FG-3019"]}, {"type": "DRUG", "name": "Placebo", "description": "Matching placebo per schedule specified in the arm description", "armGroupLabels": ["Placebo"]}, {"type": "DRUG", "name": "Corticosteroids", "description": "Systemic deflazacort or equivalent potency of corticosteroids administered orally", "armGroupLabels": ["Pamrevlumab", "Placebo"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[45, 51, 53],"Exons Eligible":[],"Exons Non Eligible":[45, 51, 53],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":37,"NCTID":"NCT06363357","Title":"The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder","Organization Study ID":null,"Organization Full Name":"Seoul National University Hospital","Organization Class":"OTHER","Brief Title":"The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder","Status Verified Date":"2025-07-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The 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 neuromuscular disorder.\n\nThe main questions it aims to answer are:\n\n* What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder?\n* Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not?\n\nParticipants will:\n\n* Receive education on how to wear and use the shoulder orthosis.\n* 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.\n\nResearchers will compare neuromuscular disorder 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria\n\n1. Patients with a confirmed diagnosis of a neuromuscular disease (NMD) by genetic testing, muscle biopsy, or electrodiagnostic studies, presenting with prominent upper limb muscle weakness. Examples include:\n\n   1. Muscular Dystrophies: Duchenne/Becker Muscular Dystrophy (DMD/BMD), Limb-Girdle Muscular Dystrophy (LGMD), Facioscapulohumeral Muscular Dystrophy (FSHD), etc.\n   2. Motor Neuron Diseases: Spinal Muscular Atrophy (SMA, Types 2 and 3), Amyotrophic Lateral Sclerosis (ALS, upper limb-dominant), etc.\n   3. Peripheral Neuropathies: Charcot-Marie-Tooth (CMT) disease, etc.\n   4. Other Neuromuscular Conditions: Including but not limited to cervical spinal cord injury.\n2. Aged over 10 years.\n3. A score of 2 to 5 on the Brooke Upper Extremity Functional Rating Scale.\n4. Manual Muscle Test (MMT) grade of less than 3 for shoulder abduction.\n5. Ability to provide written informed consent from the participant and/or their legal representative, indicating willingness to participate in the study.\n\nExclusion Criteria\n\n1. Unwillingness or inability to provide informed consent.\n2. A score of 1 or 6 on the Brooke Upper Extremity Functional Rating Scale.\n3. Cognitive impairment severe enough to interfere with the proper use of a shoulder orthosis.\n4. Any other condition which, in the opinion of the investigator, would make study participation inappropriate or unsafe for the patient.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-04-09","Study First Submit QC Date":"2024-04-09","Last Update Submit Date":"2025-11-25","Study First Post Date":"2024-04-12","Last Update Post Date":"2025-12-03","Start Date":"2024-04-20","Primary Completion Date":"2025-12-31","Completion Date":"2025-12-31","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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 neuromuscular disorder.\n\nThe main questions it aims to answer are:\n\n* What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder?\n* Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not?\n\nParticipants will:\n\n* Receive education on how to wear and use the shoulder orthosis.\n* 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.\n\nResearchers will compare neuromuscular disorder 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.","Conditions":"Muscular Dystrophy, Duchenne;Orthotic Devices;Upper Extremity;Neuromuscular Diseases (NMD);Fascioscapulohumeral Muscular Dystrophy;Spinal Muscular Atrophy (SMA);ALS (Amyotrophic Lateral Sclerosis);LGMD;SCI - Spinal Cord Injury","Phases":["NA"],"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Performance of the upper limb module 2.0 (PUL 2.0)", "description": "The Performance of the Upper Limb module (PUL) was specifically designed to assess upper limb function across the spectrum of function in patients with neuromuscular disorder, 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.", "timeFrame": "Before orthosis wear & After orthosis wear and operation"}, {"measure": "Active Range of motion", "description": "Measurement 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/extension and abduction/adduction of the humerus are each measured three times, with the average value used.", "timeFrame": "Before orthosis wear & After orthosis wear and operation"}, {"measure": "Functional workspace", "description": "Functional 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.", "timeFrame": "Before orthosis wear & After orthosis wear and operation"}, {"measure": "Goal Attainment Scale (GAS)", "description": "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.", "timeFrame": "Before orthosis wear & After orthosis wear and operation"}, {"measure": "Surface electromyography (sEMG)", "description": "\\- Measurement Tasks:\n\nThe following items are selected based on the examiner's judgment, with 3-5 items chosen for measurement:\n\ni. 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. Brushing teeth xi. Brushing front hair\n\nC. Sensor Attachment Sites:\n\n\\- Selected based on the measurement task: i. Anterior/Middle Deltoid (dominant) ii. Biceps Brachii (dominant) iii. Upper Trapezius (dominant) iv. Sternocleidomastoid (dominant) v. External/Internal Oblique Muscles (both sides) vi. Longissimus muscles (both sides)\n\nD. Sensor Signal Parameters:\n\n\\- EMG Parameters: Amplitude after Rectification (RMS), area, percentage ratio of amplitude to RVC during motion.", "timeFrame": "Before orthosis wear & After orthosis wear and operation"}, {"measure": "Heart rate", "description": "changes in heart rate", "timeFrame": "Baseline and immediately after completing the standard task with the orthosis (approximately 3-4 hour)"}, {"measure": "Blood pressure", "description": "changes in blood pressure in systolic and diastolic", "timeFrame": "Baseline and immediately after completing the standard task with the orthosis (approximately 3-4 hour)"}, {"measure": "Numeral Rating Scale for Pain", "description": "changes in pain score using Numeral Rating Scale", "timeFrame": "Baseline and immediately after completing the standard task with the orthosis (approximately 3-4 hour)"}, {"measure": "Box and block test", "description": "A wooden box with a partition will be used with wooden blocks placed in one side of the box.\n\nThe box is placed longitudinally on a table in front of the participant. The side of the box containing 150 blocks is positioned on the side of the hand being tested.\n\nThe participant is instructed to move as many blocks as possible, one at a time, from the starting compartment to the empty compartment by reaching over the central partition, within a specified time limit.\n\nThe researcher provides a clear demonstration of the task, emphasizing that blocks must clear the partition and enter the opposite side completely.\n\nA 15-second practice trial is administered first to ensure the participant understands the directions and task demands.\n\nA 60-second test trial is administered for each hand, starting with the dominant hand. The stopwatch starts when the participant's hand touches the first block and stops precisely at 60 seconds.", "timeFrame": "Baseline and immediately after completing the standard task with the orthosis (approximately 3-4 hour)"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":10,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "Shoulder orthosis", "description": "muscle-mimicking, fabric-type shoulder orthosis", "armGroupLabels": ["Neuromuscular disorder participants"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":38,"NCTID":"NCT02500381","Title":"A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Study of SRP-4045 (Casimersen) and SRP-4053 (Golodirsen) in Participants With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2025-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Genotypically confirmed DMD, with genetic deletion amenable to exon 45 or exon 53 skipping\n* 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).\n* Intact right and left biceps brachii muscles or 2 alternative upper arm muscle groups\n* Mean 6MWT ≥300 meters and ≤450 meters\n* Stable pulmonary function: forced vital capacity (FVC) ≥50% predicted\n\nExclusion Criteria:\n\n* Treatment with gene therapy at any time\n* 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\n* Current or previous treatment with any other experimental treatment within 12 weeks prior to Week 1\n* Major surgery within 3 months prior to Week 1\n* Presence of other clinically significant illness\n* Other inclusion/exclusion criteria may apply.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2015-07-14","Study First Submit QC Date":"2015-07-14","Last Update Submit Date":"2025-11-14","Study First Post Date":"2015-07-16","Last Update Post Date":"2025-11-18","Start Date":"2016-09-28","Primary Completion Date":"2024-11-12","Completion Date":"2025-10-16","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":228,"Primary Outcome Measure":[{"measure": "Change From Baseline in the 4-Step Ascend Velocity at Week 96", "timeFrame": "Baseline, Week 96"}],"Secondary Outcome Measure":[{"measure": "Change from Baseline in the Total Distance Walked During 6MWT at Week 96", "timeFrame": "Baseline, Week 96"}, {"measure": "Change from Baseline in Rise from Floor Velocity at Week 96", "timeFrame": "Baseline, Week 96"}, {"measure": "Change From Baseline in the 4-Step Ascend Velocity at Week 144", "timeFrame": "Baseline, Week 144"}, {"measure": "Change From Baseline in Total Distance Walked During the 10-meter walk/run (10-MWR) Velocity", "timeFrame": "Baseline, Week 96"}, {"measure": "Change From Baseline in the North Star Ambulatory Assessment (NSAA) Total Score at Week 96", "description": "The 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.", "timeFrame": "Baseline, Week 96"}, {"measure": "Change from Baseline in Dystrophin Protein Levels Determined by Western Blot at Weeks 48 or 96", "timeFrame": "Baseline, Week 48 or Week 96"}, {"measure": "Change from Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Weeks 48 or 96", "timeFrame": "Baseline, Week 48 or Week 96"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":13,"Interventions":[{"type": "DRUG", "name": "SRP-4045", "description": "SRP-4045 solution for IV infusion", "armGroupLabels": ["Placebo followed by SRP-4045 or SRP-4053", "SRP-4045"], "otherNames": ["Casimersen", "AMONDYS 45"]}, {"type": "DRUG", "name": "SRP-4053", "description": "SRP-4053 solution for IV infusion", "armGroupLabels": ["Placebo followed by SRP-4045 or SRP-4053", "SRP-4053"], "otherNames": ["Golodirsen", "VYONDYS 53"]}, {"type": "DRUG", "name": "Placebo", "description": "SRP-4045 or SRP-4053 placebo-matching solution for IV infusion", "armGroupLabels": ["Placebo followed by SRP-4045 or SRP-4053"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[45, 53],"Exons Eligible":[45, 53],"Exons Non Eligible":[],"Exons to be skipped":[45, 53],"PubMed IDs":["40098309", "34105177"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":39,"NCTID":"NCT06100887","Title":"A Phase 2 Study to Evaluate the Effect of EDG-5506 on Safety, Pharmacokinetics, and Biomarkers in Children and Adolescents With Duchenne Muscular Dystrophy Previously Treated With Gene Therapy","Organization Study ID":null,"Organization Full Name":"Edgewise Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Phase 2 Study of EDG-5506 in Children and Adolescents With Duchenne Muscular Dystrophy Previously Treated With Gene Therapy","Status Verified Date":"2025-11-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria:\n\n* Aged 6 to 17 with a documented mutation on the DMD gene and phenotype consistent with DMD.\n* Prior receipt of an AAV-based gene therapy (≥ 2 years after documented receipt of gene therapy administration or ≥ 3 years after randomization in a randomized study).\n* 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.\n* Body weight ≥ 15 kg at the Screening visit.\n* Treatment with a stable dose of corticosteroids for a minimum of 6 months prior to the Baseline visit.\n\nKey Exclusion Criteria:\n\n* 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.\n* Screening visit cardiac echocardiography showing left ventricular ejection fraction (LVEF) \\< 40%.\n* 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.\n* Receipt of an exon-skipping therapy within 6 months prior to the Screening visit.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-10-20","Study First Submit QC Date":"2023-10-20","Last Update Submit Date":"2025-11-05","Study First Post Date":"2023-10-25","Last Update Post Date":"2025-11-06","Start Date":"2024-03-22","Primary Completion Date":"2027-03-01","Completion Date":"2027-03-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":43,"Primary Outcome Measure":[{"measure": "Number of adverse events during treatment with sevasemten or placebo", "description": "All participants", "timeFrame": "36 months"}, {"measure": "Severity of adverse events during treatment with sevasemten or placebo", "description": "All participants", "timeFrame": "36 months"}],"Secondary Outcome Measure":[{"measure": "Incidence of laboratory test-related treatment emergent adverse events", "description": "All participants", "timeFrame": "36 months"}, {"measure": "Pharmacokinetics as measured by steady state plasma concentration", "description": "All participants", "timeFrame": "36 months"}, {"measure": "Change from Baseline in serum creatine kinase", "description": "All participants", "timeFrame": "12 weeks"}, {"measure": "Change from Baseline in fast skeletal muscle troponin I", "description": "All participants", "timeFrame": "12 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":17,"Interventions":[{"type": "DRUG", "name": "Sevasemten Dose 1", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Cohort 1"]}, {"type": "DRUG", "name": "Sevasemten Dose 2", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Cohort 2"]}, {"type": "DRUG", "name": "Sevasemten Dose 3", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Cohort 3"]}, {"type": "DRUG", "name": "Placebo", "description": "Placebo is administered orally once per day", "armGroupLabels": ["Cohort 1", "Cohort 2", "Cohort 3"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["http://edgewisetx.com"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":40,"NCTID":"NCT02246478","Title":"A Phase I Study of Single and Multiple Doses of TAS-205 in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Taiho Pharmaceutical Co., Ltd.","Organization Class":"INDUSTRY","Brief Title":"A Study of TAS-205 for Duchenne Muscular Dystrophy","Status Verified Date":"2021-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The objective of this study is to evaluate the safety and pharmacokinetic of TAS-205 in patients with Duchenne Muscular Dystrophy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Able to give an informed consent. If applicable, able to give an informed assent.\n* Male and \\>= 5 years and \\< 16 years of age.\n* Bodyweight of \\>= 15.0 kg and \\< 75.0 kg.\n* Phenotypic evidence of DMD.\n* Able to take tablets.\n* If taking oral glucocorticosteroids no significant change in total daily dosage or dosing regimen after enrollment.\n* Confirmed the urinary PD marker over its criteria.\n* Able to follow the study protocol.\n\nExclusion Criteria:\n\n* Current diagnosis or history of any drug allergy.\n* A forced vital capacity (FVC) \\< 50% of predicted value.\n* A left ventricular ejection fraction (EF) \\< 50% or fractional shortening (FS) \\< 25% based on echocardiogram (ECHO).\n* Ongoing immunosuppressive therapy (other than corticosteroids).\n* With severe disease such as hepatic disease, kidney disease and others.\n* With any systemic allergic disease or any chronic inflammatory disease.\n* Treated with any other investigational agents within 90 days.\n* Positive reaction in hepatitis B surface antigen (HbsAg), hepatitis C antibody test (HCV), or human immunodeficiency virus (HIV) test.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-09-09","Study First Submit QC Date":"2014-09-18","Last Update Submit Date":"2021-05-11","Study First Post Date":"2014-09-22","Last Update Post Date":"2021-06-04","Start Date":"2014-09-01","Primary Completion Date":"2015-06-01","Completion Date":"2015-09-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The objective of this study is to evaluate the safety and pharmacokinetic of TAS-205 in patients with Duchenne Muscular Dystrophy.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":23,"Primary Outcome Measure":[{"measure": "Incidence of Adverse Events", "description": "Source Vocabulary Name for Table Default: CTCAE (4.03)", "timeFrame": "From the first administration day to the end of the observation period (ie. single-dose phase: 8 days, multiple-doses phase: 14 days)"}],"Secondary Outcome Measure":[{"measure": "Peak Plasma Concentration (Cmax) of TAS-205", "description": "Due to inspection missing, some data were not analyzed.", "timeFrame": "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."}, {"measure": "Area Under the Plasma Concentration Versus Time Curve (AUC) of TAS-205", "description": "Due to inspection missing, some data were not analyzed.", "timeFrame": "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)"}, {"measure": "The Urinary Excretion of PD Marker", "description": "Ratio of prostaglandin E2 metabolite / creatinine Due to inspection missing, some data were not analyzed.", "timeFrame": "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."}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":15,"Interventions":[{"type": "DRUG", "name": "TAS-205", "description": "* Single-dose phase: 3 steps (low dose, middle dose or high dose group), 5 patients/step, single oral administration after meals\n* Multiple-dose phase: 3 steps (low dose, middle dose or high dose group), 5 patients/step (the same patients between single- and multiple-dose phases), repeated oral administration for 7 days, BID after meals", "armGroupLabels": ["TAS-205 high dose", "TAS-205 low dose", "TAS-205 middle dose"]}, {"type": "DRUG", "name": "Placebo", "description": "* Single-dose phase: 3steps (low dose, middle dose or high dose group), 2 patients/step, single oral administration after meals\n* Multiple-dose phase: 3 steps (low dose, middle dose or high dose group), 2 patients/step (the same patients between single- and multiple-dose phases), repeated oral administration for 7 days, BID after meals", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":41,"NCTID":"NCT03534349","Title":"Lower Limb Flexibility in Duchenne Muscular Dystrophy: Effects on Functional Performance","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Lower Limb Flexibility in Duchenne Muscular Dystrophy: Effects on Functional Performance","Status Verified Date":"2018-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Having a Duchenne Muscular Dystrophy diagnosis,\n* Being in the ambulatory period and climbing four steps independently,\n* To be able to cooperate the physiotherapist's directions,\n* Not having any severe contracture in the lower limbs which may prevent assessments,\n* Not having any injury or surgery involving the lower limbs during the last 6 months.\n\nExclusion Criteria:\n\nChildren who did not provide these criteria and did not will to participate the study were excluded.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-05-10","Study First Submit QC Date":"2018-05-12","Last Update Submit Date":"2018-05-22","Study First Post Date":"2018-05-23","Last Update Post Date":"2018-05-24","Start Date":"2017-01-01","Primary Completion Date":"2017-06-01","Completion Date":"2017-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The investigator investigated the effect of lower limb flexibility on functional performance of children with Duchenne Muscular Dystrophy.","Conditions":"Duchenne Muscular Dystrophy;Performance;Flexibility","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "6 Minute Walk Test", "description": "The 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 Dystrophy", "timeFrame": "6 Minute"}],"Secondary Outcome Measure":[{"measure": "Timed Performance Test", "description": "Timed 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.", "timeFrame": "3 minute"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":42,"NCTID":"NCT06450639","Title":"A Phase II Multicenter, Open-label Study to Evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Satralizumab in Pediatric Patients With Duchenne Muscular Dystrophy (SHIELD DMD)","Organization Study ID":null,"Organization Full Name":"Hoffmann-La Roche","Organization Class":"INDUSTRY","Brief Title":"A Study to Assess the Efficacy and Safety of Satralizumab in Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2026-05-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The 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 participants with DMD aged ≥ 8 to \\< 18 years old receiving corticosteroid therapy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria:\n\n* Signed Informed Consent Form (ICF) and signed Assent Form when appropriate\n* Male at birth\n* 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\n* Age ≥ 8 and \\< 18 years at the time of signing ICF\n* Group 1 participants are required to meet the following criteria: - Ambulatory (defined as able to walk independently without assistive devices) with a prior history of fractures: a) Prior history of low-trauma fracture defined as: evidence of at least one prevalent vertebral compression fracture of Genant Grade 1 or 2 (or radiographic signs of vertebral fractures \\[VF\\]) or history of at least one low-trauma long-bone fracture (upper or lower extremity) or b) Non-ambulatory, characterized as being non-ambulatory for a minimum of 6 months with onset of non-ambulatory status defined as participant- or caregiver-reported age of continuous wheelchair use, approximated to the nearest month, and an North Star Ambulatory Assessment (NSAA) walk score of \"0\" and inability to perform the 10-Meter Walk/Run (10 MWR) at the baseline visit, with or without fractures\n* Group 2 participants are required to meet the following criteria: - Be fracture-naïve, defined as: 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\n* Daily oral corticosteroids\n\nKey Exclusion Criteria:\n\n* 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\n* Presence of any clinically significant illness\n* Has serological evidence of current, chronic, or active human immunodeficiency virus (HIV), tuberculosis (TB), hepatitis C virus (HCV), or hepatitis B virus (HBV) infection\n* Has a symptomatic infection (e.g., upper respiratory tract infection, pneumonia, pyelonephritis, meningitis) within 4 weeks prior to baseline\n* Body weight at screening \\< 20 or \\> 100 kilograms (kg)\n* Evidence of a severe VF (defined as Grade 3), assessed by radiographic imaging at screening and quantified using the Genant semiquantitative method\n* Treatment with prohibited therapies as defined by the protocol\n* Has received a live or live attenuated virus vaccine within 6 weeks of the baseline visit or expects to receive a live or live attenuated virus vaccine during the study\n* Has abnormal laboratory values considered clinically significant as defined by the protocol\n* Any medical condition that might interfere with the evaluation of LS BMD, such as severe scoliosis or spinal fusion\n* 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\n* Participant has an allergy or hypersensitivity to the study medication or to any of its constituents. Other protocol defined inclusion and exclusion criteria may apply","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-06-05","Study First Submit QC Date":"2024-06-05","Last Update Submit Date":"2026-05-13","Study First Post Date":"2024-06-10","Last Update Post Date":"2026-05-15","Start Date":"2025-04-04","Primary Completion Date":"2026-08-26","Completion Date":"2026-11-18","Oversight Has DMC":"false","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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 participants with DMD aged ≥ 8 to \\< 18 years old receiving corticosteroid therapy.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Group 2: Change From Baseline to Week 24 in Lumbar Spine (LS) Bone Mineral Density (BMD) Z-score Measured by Dual-energy X-ray Absorptiometry (DEXA)", "description": "BMD of the LS is measured using DEXA.", "timeFrame": "Baseline up to Week 24"}],"Secondary Outcome Measure":[{"measure": "All Participants: Change From Baseline to Week 24 in LS BMD Z-score Measured by DEXA", "timeFrame": "Baseline up to Week 24"}, {"measure": "Group 2: Change From Baseline to Week 24 in Total Body Less Head (TBLH) BMD Z-score Measured by DEXA", "timeFrame": "Baseline up to Week 24"}, {"measure": "Group 2: Change From Baseline to Week 24 in Total Hip BMD Z-score Measured by DEXA", "timeFrame": "Baseline up to Week 24"}, {"measure": "Percentage of Participants With Treatment-emergent Adverse Events (TEAEs)", "description": "An adverse event (AE) is any untoward medical occurrence in a clinical study participant temporally associated with the use of a study treatment, whether or not considered related to the study treatment.", "timeFrame": "Up to 90 weeks"}, {"measure": "Percentage of Participants With Serious Adverse Events (SAEs)", "description": "An SAE 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; is medically significant.", "timeFrame": "Up to 90 weeks"}, {"measure": "Percentage of Participants With Adverse Events of Special Interest (AESIs)", "timeFrame": "Up to 90 weeks"}, {"measure": "Observed Serum Concentration of Satralizumab at Specified Trough Timepoints up to Study End", "timeFrame": "Up to 90 weeks"}, {"measure": "Apparent Clearance (CL) of Satralizumab", "description": "CL is a quantitative measure of the rate at which a drug substance is removed from the blood.", "timeFrame": "Up to 90 weeks"}, {"measure": "Apparent Volume of Distribution (Vd) of Satralizumab", "description": "Vd 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.", "timeFrame": "Up to 90 weeks"}, {"measure": "Area Under the Concentration-time Curve (AUC) of Satralizumab", "description": "AUC from time zero to the last quantifiable concentration of satralizumab in plasma.", "timeFrame": "Up to 90 weeks"}, {"measure": "Percentage of Participants With Anti-drug Antibodies (ADAs) to Satralizumab at Baseline and During the Study", "timeFrame": "Up to 90 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":8,"Maximum Age (Years)":17,"Interventions":[{"type": "DRUG", "name": "Satralizumab", "description": "Satralizumab will be administered as SC injection in the abdominal or femoral region on Day 1, Weeks 2 and 4 (loading doses) and then Q4W from Week 8 until study completion (maintenance doses).", "armGroupLabels": ["Satralizumab"], "otherNames": ["ENSPRYNG\u00ae; RO5333787"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":true,"Roche Website URL":"https://forpatients.roche.com/en/trials/muscle-and-peripheral-nerve-disease/dmd/an-open-label-study-to-assess-the-efficacy-and-safety-o-12382.html","Treatment Type":"Other"},{"_id":43,"NCTID":"NCT00016653","Title":"A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Cooperative International Neuromuscular Research Group","Organization Class":"NETWORK","Brief Title":"Creatine and Glutamine in Steroid-Naive Duchenne Muscular Dystrophy","Status Verified Date":"2011-10-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"INCLUSION CRITERIA\n\n* Aged 5 - 9 years old\n* Able to walk without assistance\n* Diagnosis of DMD confirmed by one of the following:\n* a) Positive X-linked family history; or\n* b) Dystrophin immunofluorescence and/or immunoblot, which shows complete dystrophin deficiency, and clinical picture consistent with DMD; or\n* 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.\n* 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\n* Forced Vital Capacity (a lung function test) \\> 50% of predicted value\n* Evidence of muscle weakness by MRC score or clinical functional evaluation\n* MRC (manual muscle test) score variability no greater than 10% between screening visits 1 and 2\n\nEXCLUSION CRITERIA\n\n* Failure to achieve any of the criteria listed above\n* Symptomatic DMD carrier\n* Symptomatic cardiomyopathy or ventricular arrhythmias\n* Previous (6 months or less) or current use of glutamine or creatine (for DMD or any other indication)\n* Use of carnitine, other amino acids, coenzyme Q10, or any herbal medicines within the last month\n* History of significant concomitant illness or significant impairment of renal or hepatic function\n* Evidence of allergy to chocolate or milk solids (substances will be delivered in a powdered hot cocoa mixture)","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2001-05-21","Study First Submit QC Date":"2001-05-22","Last Update Submit Date":"2011-10-26","Study First Post Date":"2001-05-23","Last Update Post Date":"2011-10-27","Start Date":"2000-06-01","Primary Completion Date":null,"Completion Date":"2006-12-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This 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.","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE2", "PHASE3"],"Enrollment Count":48,"Primary Outcome Measure":null,"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":9,"Interventions":[{"type": "DRUG", "name": "Creatine Monohydrate"}, {"type": "DRUG", "name": "Glutamine"}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60],"Exons Eligible":[25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["15984021"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":44,"NCTID":"NCT06124196","Title":"Wearable Technology to Evaluate Hyperglycemia and Heart Rate Variability in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Vanderbilt University Medical Center","Organization Class":"OTHER","Brief Title":"Wearable Technology to Evaluate Hyperglycemia and HRV in DMD","Status Verified Date":"2026-05-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"Duchenne 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.\n\nThe 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"CASE, DMD inclusion criteria:\n\n* Male\n* Age ≥10years\n* Clinical phenotype of DMD confirmed with muscle biopsy or genotype.\n* Informed consent for individuals ≥18 years\n* Parent/guardian informed consent and child assent for individuals \\< 18 years\n\nCASE, DMD exclusion criteria:\n\n* Refusal to participate.\n* Diagnosis of diabetes prior to the study and/or taking insulin or other anti-diabetic drug therapy in \\< 4 weeks prior to treatment\n* Use of a pacemaker, Implantable cardioverter-defibrillator (ICD), or other implanted device\n* Unable to comply with study procedures, in the opinion of the investigator.\n\nCONTROL inclusion criteria:\n\n* Male\n* Age ≥10years\n* Informed consent for individuals ≥18 years\n* Parent/guardian informed consent and child assent for individuals \\< 18 years\n* BMI matched by Centers for Disease Control and Prevention (CDC) category (underweight, normal, overweight, obese) to cases.\n* Self-reported race/ethnicity matched to cases.\n* No known evidence of diabetes, impaired fasting glucose, or impaired glucose tolerance:\n* 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.\n* 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).\n\nCONTROL, exclusion criteria:\n\n* Refusal to participate.\n* Diagnosis of diabetes prior to the study and/or taking insulin or other anti-diabetic drug therapy in \\< 4 weeks prior to treatment\n* Use of a pacemaker, Implantable cardioverter-defibrillator (ICD), or other implanted device\n* Unable to comply with study procedures, in the opinion of the investigator.\n* Diagnosis of DMD or Becker muscular dystrophy","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-11-03","Study First Submit QC Date":"2023-11-03","Last Update Submit Date":"2026-05-19","Study First Post Date":"2023-11-09","Last Update Post Date":"2026-05-22","Start Date":"2024-03-20","Primary Completion Date":"2030-02-01","Completion Date":"2031-02-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne 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.\n\nThe 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":80,"Primary Outcome Measure":[{"measure": "Rate of hyperglycemia", "description": "number of glucose measurements \u2265140mg/dL over total number of glucoses compared between individuals with and without DMD", "timeFrame": "once over 10 days"}, {"measure": "Standard deviation of the mean R-to-R segment (SDANN)", "description": "correlation of rate of hyperglycemia and SDANN, which reflects heart rate variability", "timeFrame": "once over 7 days"}],"Secondary Outcome Measure":[{"measure": "Coefficient of variation on CGM", "description": "variability of glucose levels on CGM measured by COV compared between individuals with and without DMD", "timeFrame": "once over 10 days"}, {"measure": "Rate of significant hyperglycemia", "description": "number of glucose measurements \u2265200mg/dL over total number of glucoses compared between individuals with and without DMD", "timeFrame": "once over 10 days"}, {"measure": "Activity level - measured by ActiGraph", "description": "Time 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).", "timeFrame": "once over 7 days"}, {"measure": "Standard deviation of normal R to R intervals (SDNN)", "description": "correlation of rate of hyperglycemia and SDNN", "timeFrame": "once over 7 days"}],"Healthy Volunteers":true,"Minimum Age (Years)":10,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "wearable technology", "description": "Three wearable devices", "armGroupLabels": ["Case - DMD", "Controls"], "otherNames": ["Continuous glucose monitor (CGM): The Dexcom G6 Pro Continuous Glucose Monitoring System (Dexcom G6 Pro System)", "Holter Monitor: Body Guardian Mini Remote Monitoring System", "Physical activity and sleep monitor: ActiGraph GT9X accelerometers"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":45,"NCTID":"NCT07338812","Title":"Efficacy of Virtual Reality and Whole Body Vibration on Muscle Strength and Balance in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Cairo University","Organization Class":"OTHER","Brief Title":"Virtual Reality and Whole Body Vibration on Muscle Strength and Balance in Children With DMD","Status Verified Date":"2026-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"we measure balance and quadriceps strength in Duchenne muscular dystrophy children after applying virtual reality and whole body vibration","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* children diagnosed with DMD\n* aged between 6 and 10 years\n* having lower extremities and trunk muscle strength of grade 3+\n* were able to move their upper and lower limbs normally and being able to walk unhindered at levels I and II of the Ambulation function classification system for DMD (AFCSD)\n\nExclusion Criteria:\n\n* cardiopulmonary dysfunction or skeletal abnormalities that are either congenital or acquired\n* had previously experienced lower limb surgical procedure\n* had neurological conditions that affected their balance and gait or had poor motor development\n* exhibited behavioural disorders preventing them from cooperating during the trial\n* being overweight (body mass index (BMI) \\>25 kg/ m2) because a lot of fat makes it hard for the ultrasound to measure thickness","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-01-04","Study First Submit QC Date":"2026-01-04","Last Update Submit Date":"2026-01-04","Study First Post Date":"2026-01-14","Last Update Post Date":"2026-01-14","Start Date":"2025-04-11","Primary Completion Date":"2025-05-20","Completion Date":"2025-10-12","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"we measure balance and quadriceps strength in Duchenne muscular dystrophy children after applying virtual reality and whole body vibration","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["NA"],"Enrollment Count":50,"Primary Outcome Measure":[{"measure": "balance", "description": "Biodex Balance System (BBS) (BSS; Biodex, Inc, Shirley, NY) was used to evaluate each child's dynamic balance. It is a multiaxial tool that records and evaluates a person's capacity to maintain joint stability under dynamic stress. The BBS uses a circular platform that can move concurrently in the anterior-posterior and medial-lateral axes, unlike force plate technologies.", "timeFrame": "12 weeks"}, {"measure": "quadriceps muscle strength", "description": "The Lafayette Manual Muscle Tester (MMT) Model Number 01163 combines accuracy and precision with contemporary ergonomic design to generate exact, impartial, and reliable results. The three replaceable, cushioned stirrups made it possible to employ established methods with assurance and effectiveness while preserving patient comfort", "timeFrame": "12 weeks"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":10,"Interventions":[{"type": "DEVICE", "name": "virtual reality", "description": "Group (A) had designed physical therapy in form of Warm up with gentle stretching movements to prevent injuries. The lower limb muscles on both sides were stretched for 20 seconds, followed by 20 seconds of relaxation, five times. The quadriceps, hamstrings, anterior tibial group, calf muscles, biceps, and triceps were also contracted isometrically. Every muscle contraction was held for 5 seconds, followed by 5 seconds of relaxation, and the process was repeated five times in addition to virtual reality inform of VR program. Nintendo Wii Fit Balance Board (Nintendo, Kyoto, Japan) was used to perform the exercises. In each session, VR was used for a total of 10 minutes three times per week for three consecutive months.", "armGroupLabels": ["virtual reality"]}, {"type": "DEVICE", "name": "whole body vibration", "description": "Group (B) had the same physical therapy program with WBV (Power Plate Pro 5) for a total of 10 minutes per session. The apparatus was set at 30 Hz frequency, 2 mm amplitude, and 5 minutes of operating time. The children were squatted down completely on a vibrating, side-alternating platform and were told to stay that way throughout the experience, communicating any pain they felt to the researchers. The vibration feature automatically shuts off after 5 minutes. After that, the children took a one-minute break. Then, with the same settings as those used in the squatting position, children stood on the vibration platform for 5 minutes. In each session, WBV was used for a total of 10 minutes three times per week for three consecutive months.", "armGroupLabels": ["whole-body vibration"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":46,"NCTID":"NCT03002298","Title":"Motor Learning From Virtual to Natural Environments in Individuals With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of Sao Paulo","Organization Class":"OTHER","Brief Title":"Virtual Reality in Individuals With Duchenne Muscular Dystrophy","Status Verified Date":"2017-04-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"With 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* medical diagnosis of Duchenne Muscular Dystrophy confirmed by molecular method and/or protein expression in skeletal muscle;\n* signing of an informed consent form from the individual or person legally responsible.\n\nExclusion Criteria:\n\n* presence of associated comorbidities;\n* inability in comprehension of the task.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2016-12-19","Study First Submit QC Date":"2016-12-20","Last Update Submit Date":"2017-04-08","Study First Post Date":"2016-12-23","Last Update Post Date":"2017-04-11","Start Date":"2016-01-01","Primary Completion Date":"2016-08-01","Completion Date":"2016-10-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"With 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":64,"Primary Outcome Measure":[{"measure": "Motor Learning test by using a timing coincident task in virtual reality", "timeFrame": "1 day"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":12,"Maximum Age (Years)":32,"Interventions":[{"type": "BEHAVIORAL", "name": "DMD gesture task", "description": "Timing coincident task in a virtual environment, using motor learning protocol in which a gesture in front of a webcam shoub be done to reach the task", "armGroupLabels": ["DMD gesture task"]}, {"type": "BEHAVIORAL", "name": "DMD button-press task", "description": "Timing coincident task in a virtual environment, using motor learning protocol in which the task shoub be done by pressing a button on the keyboard", "armGroupLabels": ["DMD button-press task"]}, {"type": "BEHAVIORAL", "name": "Control group gesture task", "description": "Timing coincident task in a virtual environment, using motor learning protocol in which a gesture in front of a webcam shoub be done to reach the task", "armGroupLabels": ["Control group gesture task"]}, {"type": "BEHAVIORAL", "name": "Control group button-press task", "description": "Timing coincident task in a virtual environment, using motor learning protocol in which the task shoub be done by pressing a button on the keyboard", "armGroupLabels": ["Control group button-press task"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":47,"NCTID":"NCT03680365","Title":"Your Voice; Impact of DMD. A Qualitative Assessment of the Impact of DMD on the Lives of Families","Organization Study ID":null,"Organization Full Name":"Jett Foundation, Inc.","Organization Class":"OTHER","Brief Title":"Your Voice; Impact of Duchenne Muscular Dystrophy (DMD) on the Lives of Families","Status Verified Date":"2019-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 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.\n2. Confirmed diagnosis of DMD with written proof of disease provided\n3. Resident of the U.S.\n4. Able to read, write and communicate in English\n5. Able to grant informed consent\n6. Willing to participate in a 45 minute telephone interview\n7. 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)\n\nExclusion Criteria:\n\n1\\. Inability to meet any of the inclusion criteria","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-09-06","Study First Submit QC Date":"2018-09-20","Last Update Submit Date":"2019-03-29","Study First Post Date":"2018-09-21","Last Update Post Date":"2019-04-01","Start Date":"2018-09-20","Primary Completion Date":"2019-03-15","Completion Date":"2019-03-15","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy;Burden, Dependency;Disability Physical;Disease Management;Impairment;Rare Diseases","Phases":null,"Enrollment Count":60,"Primary Outcome Measure":[{"measure": "Patient/Parent Interview Assessing Treatment Needs", "description": "In 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:\n\n1. Number of times each activity is mentioned\n2. Overall score for each activity\n3. Number of times each reason is mentioned\n4. Overall score for each reason", "timeFrame": "1 year"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":11,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["29395989", "29395990", "29398641"],"See Also Links":["https://www.jettfoundation.org/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":48,"NCTID":"NCT03319030","Title":"Evaluating the Impact of Aerobic Exercise in Boys With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"Ann & Robert H Lurie Children's Hospital of Chicago","Organization Class":"OTHER","Brief Title":"Aerobic Exercise in Boys With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2019-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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.\n\nExclusion Criteria:\n\n* Is less than two years old and does not have a confirmed diagnosis of DMD.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2017-10-09","Study First Submit QC Date":"2017-10-22","Last Update Submit Date":"2019-01-31","Study First Post Date":"2017-10-24","Last Update Post Date":"2019-02-04","Start Date":"2017-09-01","Primary Completion Date":"2018-04-30","Completion Date":"2018-09-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":43,"Primary Outcome Measure":[{"measure": "microRNA levels", "description": "Understanding if there are any differences in microRNA's in boys who are more active versus those who are not.", "timeFrame": "Baseline only"}],"Secondary Outcome Measure":[{"measure": "Physical therapy assessment - 10 meter run test", "description": "Time in seconds that it takes a participant to run 10 meters.", "timeFrame": "Baseline only"}, {"measure": "Physical therapy assessment - North Star Ambulatory Assessment", "description": "Comparing a standardized test for ambulatory boys with DMD that gives a score out of 34 total points and microRNA levels.", "timeFrame": "Baseline only"}, {"measure": "Physical therapy assessment - time to standing from supine", "description": "Time in seconds that it takes a participant to stand from a supine position.", "timeFrame": "Baseline only"}, {"measure": "Cardiac Assessments: Electrocardiogram (ECG)", "description": "Comparing heart rate (BPM), PR interval (msec), QRS (msec), and QT intervals (msec) to microRNA levels.", "timeFrame": "Baseline only"}, {"measure": "Cardiac Assessments: Echocardiogram (ECHO)", "description": "Comparing ejection fraction (%) and other Left Ventricle systolic and diastolic metrics (cm) and microRNA levels.", "timeFrame": "Baseline only"}, {"measure": "Questionnaire: Pediatric Quality of Life: Neuromuscular module", "description": "To 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.", "timeFrame": "Baseline only"}, {"measure": "Questionnaire: Physical Function Survey", "description": "To 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.", "timeFrame": "Baseline only"}],"Healthy Volunteers":null,"Minimum Age (Years)":2,"Maximum Age (Years)":17,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["26048046", "23440719", "25027324", "26942105", "21425469", "24436293", "31852847"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":49,"NCTID":"NCT02530905","Title":"A Randomized, Double-Blind, Placebo-Controlled, Dose-Titration, Safety, Tolerability, and Pharmacokinetics Study Followed by an Open-Label Safety and Efficacy Evaluation of SRP-4045 in Advanced-Stage Patients With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Dose-Titration and Open-label Extension Study of SRP-4045 in Advanced Stage Duchenne Muscular Dystrophy (DMD) Patients","Status Verified Date":"2021-04-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Genotypically confirmed DMD (amenable to exon 45 skipping).\n* Stable cardiac and pulmonary function.\n* Limited or no ambulation.\n* On a stable dose of oral corticosteroids for at least 24 weeks OR has not received corticosteroids for at least 24 weeks.\n\nExclusion Criteria:\n\n* Current or previous treatment with the experimental agents SMT C1100 (BMN-195) or PRO045.\n* Other experimental treatment in the past 12 weeks.\n* If on cardiac medication, must be on a stable dose for the past 12 weeks.\n* Major surgery within the past 3 months.\n\nOther inclusion/exclusion criteria apply.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2015-08-10","Study First Submit QC Date":"2015-08-19","Last Update Submit Date":"2021-04-23","Study First Post Date":"2015-08-21","Last Update Post Date":"2021-05-17","Start Date":"2015-10-08","Primary Completion Date":"2018-10-03","Completion Date":"2018-10-03","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs)", "description": "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.", "timeFrame": "Baseline up to Week 148"}, {"measure": "Number of Participants With Potentially Clinically Significant (PCS) Laboratory Abnormalities Reported as TEAEs", "description": "Laboratory 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.", "timeFrame": "Baseline up to Week 148"}, {"measure": "Number of Participants With Potentially Clinically Significant Abnormalities in Vital Signs Reported as TEAEs", "description": "Vital 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.", "timeFrame": "Baseline up to Week 148"}, {"measure": "Number of Participants With Potentially Clinically Significant Abnormalities in Electrocardiogram (ECG) Reported as TEAEs", "description": "Twelve-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.", "timeFrame": "Baseline up to Week 148"}, {"measure": "Number of Participants With Potentially Clinically Significant Abnormalities in Echocardiograms (ECHO)", "description": "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.", "timeFrame": "Baseline up to Week 148"}],"Secondary Outcome Measure":[{"measure": "Maximum Plasma Concentration (Cmax) of Casimersen", "description": "Maximum Concentration (Cmax) of casimersen in plasma was evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Time to Reach Maximum Plasma Concentration (Tmax) of Casimersen", "description": "Time to reach maximum plasma concentration (Tmax) of casimersen was evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Area Under Concentration-time Curve From Time of Dosing to the Last Measurable Concentration (AUClast) of Casimersen in Plasma", "description": "Area under the concentration-time curve from time zero to the last quantifiable concentration of casimersen in plasma were evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Area Under Concentration-Time Curve From Time Zero Pre-dose to Twenty-Four Hours Post-dose (AUC0-24) of Casimersen in Plasma", "description": "Area under concentration-time curve from time zero pre-dose to twenty-four hours post-dos of casimersen in plasma were evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Area Under the Concentration-Time Curve From Time Zero Extrapolated to the Infinity (AUCinf) of Casimersen in Plasma", "description": "Area under the concentration-time curve from time zero extrapolated to the infinity of casimersen in plasma was evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Apparent Volume of Distribution at Steady State (Vss) of Casimersen", "description": "Volume 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.", "timeFrame": "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 OLEP"}, {"measure": "Elimination Half-life (T1/2) of Casimersen", "description": "T1/2 is the time measured for the plasma concentration of drug to decrease by one half. T1/2 of casimersen was evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Total Clearance (CL) of Casimersen", "description": "Drug clearance is a quantitative measure of the rate at which a drug substance is removed from the blood. CL of casimersen was evaluated.", "timeFrame": "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 OLEP"}, {"measure": "Mean Residence Time Extrapolated to Infinity (MRTinf) of Casimersen", "description": "MRTinf = 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.", "timeFrame": "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 OLEP"}, {"measure": "Double-Blind Period: Renal Clearance (CLR) of Casimersen", "description": "Renal 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.", "timeFrame": "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 period"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":21,"Interventions":[{"type": "DRUG", "name": "SRP-4045", "description": "SRP-4045 solution for IV infusion.", "armGroupLabels": ["SRP-4045 (double-blind dose titration)", "SRP-4045 (open label extension period)"]}, {"type": "DRUG", "name": "Placebo", "description": "SRP-4045 placebo-matching solution for IV infusion.", "armGroupLabels": ["Placebo (double-blind dose titration)"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[45],"Exons Eligible":[45],"Exons Non Eligible":[],"Exons to be skipped":[45],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":50,"NCTID":"NCT01491555","Title":"Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Boston Children's Hospital","Organization Class":"OTHER","Brief Title":"Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy","Status Verified Date":"2016-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Researchers 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.\n\nChildren 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion criteria (DMD):\n\n1. Genetically or histologically established diagnosis of DMD\n2. Male, age 2 - 30\n\nInclusion criteria (Control):\n\n1\\. Male, age 2 - 30\n\nExclusion criteria (DMD):\n\n1. Presence of implanted pacemaker or other electrical device\n2. Presence of a superimposed neuromuscular or other medical condition that substantially impacts the individual's health\n\nExclusion criteria (control):\n\n1. Presence or past history of a neuromuscular disorder or other disease that substantially impacts health\n2. Presence of implanted pacemaker or other electrical device.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2011-12-05","Study First Submit QC Date":"2011-12-13","Last Update Submit Date":"2016-03-23","Study First Post Date":"2011-12-14","Last Update Post Date":"2016-03-24","Start Date":"2012-04-01","Primary Completion Date":"2015-09-01","Completion Date":"2015-09-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Researchers 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.\n\nChildren 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":73,"Primary Outcome Measure":[{"measure": "The rate of decline of DMD patients versus normal subjects as assessed by EIM and quantitative ultrasound", "description": "With 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.", "timeFrame": "up to 45 months"}],"Secondary Outcome Measure":[{"measure": "The rate of decline of DMD patients versus normal subjects as assessed by handheld dynamometry, 6-minute walk, and other functional tests.", "description": "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.", "timeFrame": "up to 45 months"}],"Healthy Volunteers":true,"Minimum Age (Years)":2,"Maximum Age (Years)":30,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":51,"NCTID":"NCT07347548","Title":"An Open-label, Single-center, 4-week Phase I Trial Evaluating the Safety, Tolerability, and Pharmacokinetics of Multiple Doses of GRT6019 in Healthy Male Participants","Organization Study ID":null,"Organization Full Name":"Grünenthal GmbH","Organization Class":"INDUSTRY","Brief Title":"A Trial to Investigate the Safety and Pharmacokinetics of GRT6019 in Healthy Male Participants","Status Verified Date":"2026-04-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The purpose of this trial is to assess the safety, tolerability, and PK of 3 doses of GRT6019 in healthy male participants.\n\nThis Phase I trial will be a multiple dose trial in healthy male participants with administration of GRT6019 in 3 cohorts.\n\nFor each participant, the trial consists of a Screening Period of up to 28 days, a 4 week Treatment Period (including a 2-week clinic stay and 2 weeks in an outpatient setting), and a 5 week Follow-up Period.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Main Inclusion Criteria:\n\n1. Participant must be male, 18 to 55 years of age (inclusive) at the time of signing the informed consent form and affiliated to the social security system.\n2. Participant must be capable of giving signed informed consent which includes compliance with the requirements and restrictions listed in the informed consent form (ICF) and in this protocol.\n3. Participant must sign the informed consent form before any trial-related assessments.\n4. The participant is in good health as determined by the medical history, physical examination, 12-lead ECG, vital signs (heart rate, respiratory rate, systolic and diastolic blood pressure \\[BP\\]), body temperature, and clinical laboratory parameters (clinical chemistry, hematology, coagulation, and urinalysis) without clinically relevant (per investigator judgement) deviations from reference ranges unless further specified in the exclusion criteria. The population of this clinical trial is healthy volunteer participants.\n\nMain Exclusion Criteria:\n\n1. Any disease, metabolic dysfunction, physical examination finding, or clinical laboratory finding that contraindicates the use of an investigational drug, comparator, rescue medication, or any ingredients therein, or may affect the interpretation of the results, or may render the participant at high risk from treatment complications/ participation in the study unsafe\n2. Major surgical procedure, within 3 months prior to ICF signing, or anticipation of need for a major surgical procedure during the trial\n3. Clinically significant history or evidence of cardiovascular, respiratory, hepatic, renal, gastrointestinal, endocrine, neurological, or immunological disorder(s)\n4. Regularly uses any medication, including herbal remedies or over-the-counter medication within 2 weeks before screening into this trial and anticipated use during the trial\n5. Concurrent enrollment in another clinical trial, unless it is an observational (non interventional) clinical trial or during the follow-up period of an interventional trial\n6. Recent participation in another clinical trial with an IMP administered within 30 days before Day 1 or within 5 times the elimination half-life of the IMP, whichever is longer","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-01-09","Study First Submit QC Date":"2026-01-09","Last Update Submit Date":"2026-04-08","Study First Post Date":"2026-01-16","Last Update Post Date":"2026-04-09","Start Date":"2026-01-06","Primary Completion Date":"2026-06-01","Completion Date":"2026-06-01","Oversight Has DMC":null,"Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The purpose of this trial is to assess the safety, tolerability, and PK of 3 doses of GRT6019 in healthy male participants.\n\nThis Phase I trial will be a multiple dose trial in healthy male participants with administration of GRT6019 in 3 cohorts.\n\nFor each participant, the trial consists of a Screening Period of up to 28 days, a 4 week Treatment Period (including a 2-week clinic stay and 2 weeks in an outpatient setting), and a 5 week Follow-up Period.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["PHASE1"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number of participants with Adverse Events (AEs)", "description": "Assessment of safety and tolerability of GRT6019 following 4 weeks of treatment", "timeFrame": "Through study completion, an average of 4 Weeks"}, {"measure": "Number of participants with Serious Adverse Events (SAEs)", "description": "Assessment of safety and tolerability of GRT6019 following 4 weeks of treatment", "timeFrame": "Through study completion, an average of 4 Weeks"}, {"measure": "Number of participants with AEs leading to discontinuation", "description": "Assessment of safety and tolerability of GRT6019 following 4 weeks of treatment", "timeFrame": "Through study completion, an average of 4 Weeks"}, {"measure": "Number of participants with AEs related to investigational medicinal product [IMP]", "description": "Assessment of safety and tolerability of GRT6019 following 4 weeks of treatment", "timeFrame": "Through study completion, an average of 4 Weeks"}],"Secondary Outcome Measure":[{"measure": "Area under the concentration-time curve over the dosing interval (AUCtau)", "description": "Assessment of the pharmacokinetics (PK) of GRT6019 following 4 weeks of treatment, including dose proportionality assessment and investigation of steady state attainment", "timeFrame": "Following the first dose (Day 1), then at Day 14, and after the last dose (Day 28)"}, {"measure": "Maximum observed concentration (Cmax)", "description": "Assessment of the pharmacokinetics (PK) of GRT6019 following 4 weeks of treatment, including dose proportionality assessment and investigation of steady state attainment", "timeFrame": "Following the first dose (Day 1), then at Day 14, and after the last dose (Day 28)"}],"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":55,"Interventions":[{"type": "DRUG", "name": "GRT6019", "description": "Multiple dose (MD)", "armGroupLabels": ["GRT6019: Cohort 1", "GRT6019: Cohort 2", "GRT6019: Cohort 3"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://www.grunenthal.com/en/science/clinical-trials"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":52,"NCTID":"NCT01099761","Title":"A Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of ACE-031 (ActRIIB-IgG1) in Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA","Organization Class":"INDUSTRY","Brief Title":"Study of ACE-031 in Subjects With Duchenne Muscular Dystrophy","Status Verified Date":"2022-09-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"The 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\\]","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of DMD confirmed\n* Ambulant\n* 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\n* Evidence of muscle weakness by clinical assessment\n\nExclusion Criteria:\n\n* Any previous treatment with another investigational product within 6 months prior to study day 1\n* 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\n* Inability to perform a whole body dual x-ray absorptiometry (DXA) scan","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2010-04-02","Study First Submit QC Date":"2010-04-06","Last Update Submit Date":"2022-09-14","Study First Post Date":"2010-04-08","Last Update Post Date":"2022-10-13","Start Date":"2010-04-01","Primary Completion Date":"2011-06-01","Completion Date":"2011-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The 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\\]","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number of Subjects With Adverse Reactions.", "description": "Number of subjects in each cohort with a treatment-emergent adverse event considered at least possibly related to study drug", "timeFrame": "From treatment initiation to End-of-Study Visit, approximately 24 weeks later"}, {"measure": "Number of Subjects With Clinical Laboratory Adverse Reactions.", "description": "Number of subjects in each cohort with treatment-emergent adverse laboratory values judged to be at least possibly related to study drug", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}],"Secondary Outcome Measure":[{"measure": "Percent Change in Total Lean Body Mass by DXA Scan.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Percent Change in Lumbar Spine Bone Mineral Density by DXA Scan.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Percent Change in Muscle Strength Score by Hand-held Myometry.", "description": "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.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in Distance Traveled in 6 Minutes (Standardized 6-Minute-Walk Test).", "description": "Change in distance traveled in 6 minutes (standardized 6-Minute-Walk Test); stratified by baseline age (\\<10 years vs. \\>=10 years)", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change From Baseline in Time to Travel 10 Meters (Standardized 10-Meter-Walk/Run Test).", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in Pulmonary Function Tests (FVC)", "description": "Forced Vital Capacity (FVC); 1 of 3 separate tests employed to assess pulmonary function in this study", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in Pulmonary Function Test (MIP)", "description": "Maximum Inspiratory Pressure (MIP); 2 of 3 separate tests employed to assess pulmonary function in this study", "timeFrame": "Baseline to End-of-Study Visit. approximately 24 weeks"}, {"measure": "Change in Pulmonary Function Test (MEP)", "description": "Maximum Expiratory Pressure (MEP); 3 of 3 separate tests employed to assess pulmonary function in this study", "timeFrame": "Baseline to End-of-Stuidy Visit, approximately 24 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":[{"type": "BIOLOGICAL", "name": "ACE-031 0.5 mg/kg q4wk", "description": "ACE-031 0.5 mg/kg subcutaneously once every 4 weeks for 12 weeks.", "armGroupLabels": ["ACE-031 0.5 mg/kg q4wk"]}, {"type": "BIOLOGICAL", "name": "ACE-031 1.0 mg/kg q2wk", "description": "ACE-031 1.0 mg/kg subcutaneously once every 2 weeks for 12 weeks.", "armGroupLabels": ["ACE-031 1.0 mg/kg q2wk"]}, {"type": "OTHER", "name": "Placebo", "description": "Matching volume placebo subcutaneously every 2 or 4 weeks for 12 weeks.", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":53,"NCTID":"NCT05412394","Title":"Phase-2 Trial of 5mg/kg/Week Prednisolone in Young Boys With DMD","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"Once Weekly Infant Corticosteroid Trial for DMD","Status Verified Date":"2025-02-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Subjects ages 1 month through 30 months\n* Weakness consistent with Duchenne on exam, creatine kinase ≥ 20 times the upper limit of normal, and genetic mutation known to be causative for DMD.\n\nExclusion Criteria:\n\n* Prior treatment with Glucocorticosteroids","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-02-02","Study First Submit QC Date":"2022-06-07","Last Update Submit Date":"2025-08-08","Study First Post Date":"2022-06-09","Last Update Post Date":"2025-08-13","Start Date":"2021-04-30","Primary Completion Date":"2026-08-01","Completion Date":"2026-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE4"],"Enrollment Count":26,"Primary Outcome Measure":[{"measure": "The change from baseline to 24 months for the Gross Motor Scaled Score.", "description": "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.", "timeFrame": "Baseline visit to 24 month visit"}],"Secondary Outcome Measure":[{"measure": "Language (expressive and receptive), Social and Fine Motor skills at 24 months as assessed by the Bayley-4 Scales of Infant and Toddler Development", "description": "The 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).", "timeFrame": "Baseline visit to 24 month visit"}, {"measure": "Linear growth", "description": "We 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.", "timeFrame": "Baseline visit to 24 month visit"}],"Healthy Volunteers":false,"Minimum Age (Years)":1,"Maximum Age (Years)":30,"Interventions":[{"type": "DRUG", "name": "Prednisolone", "description": "Liquid, 5mg/kg per week, for one year", "armGroupLabels": ["Experimental"], "otherNames": ["Corticosteroid"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":54,"NCTID":"NCT06109103","Title":"Investigation of the Effects of Telerehabilitation-based Motor Imagery Training on Motor Imagery Skills, Motor Function and Physical Performance in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Telerehabilitation-based Motor Imagery Training in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2023-10-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"When 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Confirmation of DMD diagnosis by clinical, diagnostic studies and molecular genetic studies,\n* According to Brooke Lower Extremity Functional Classification, it is at Circuit 1-2 levels (early period),\n* To be between the ages of 7-15,\n* 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,\n* Having a computer and an active internet connection at home\n\nExclusion Criteria:\n\n* Inability to communicate adequately with the physiotherapist,\n* 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\n* Having any additional neurological/orthopedic problems other than DMD","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-06-19","Study First Submit QC Date":"2023-10-27","Last Update Submit Date":"2023-10-27","Study First Post Date":"2023-10-31","Last Update Post Date":"2023-10-31","Start Date":"2023-12-15","Primary Completion Date":"2024-10-01","Completion Date":"2025-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"When 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":36,"Primary Outcome Measure":[{"measure": "Kinesthetic and Visual Imagery Questionnaire (KVIQ)-10", "description": "Kinesthetic 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.", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Movement Imagery Questionnaire for Children (MIQ-C)", "description": "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).", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Mental Chronometry Test", "description": "In 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.\n\nThe 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\".", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "6 minutes walk test", "description": "participants were instructed to travel as far and as fast as possible in six minutes on 25 meter-indoor course.", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Timed performance tests", "description": "Timed 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 stairs", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Four Square Step Test", "description": "Four 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.", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Motor Function Measurement (MFM)", "description": "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.", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "North Star Ambulation Assessment", "description": "Using 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.", "timeFrame": "Change from Baseline at 8 weeks"}],"Secondary Outcome Measure":[{"measure": "PedsQL Multidimensional Fatigue Scale", "description": "The 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.", "timeFrame": "Change from Baseline at 8 weeks"}, {"measure": "Pediatric Quality of Life Inventory-3.0 (PedsQL-3.0)-Neuromuscular Module", "description": "The 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 life", "timeFrame": "Change from Baseline at 8 weeks"}],"Healthy Volunteers":true,"Minimum Age (Years)":7,"Maximum Age (Years)":15,"Interventions":[{"type": "PROCEDURE", "name": "telerehabilitation-based motor imagery training", "description": "Motor imagery is defined as the mental thinking of a movement without actual movement being revealed. Many of the currently available physiotherapy and rehabilitation approaches are designed to stimulate damaged motor neural connections through neuroplasticity.\n\nbased on real movements. Studies have shown that similar brain regions are activated during motor imagery and real movement. By repeatedly visualizing the same movement, people can improve their motor activity skills such as lifting weights, playing the piano or performing surgery. These findings suggest that motor imagery provides motor learning by strengthening synaptic connections depending on activity.", "armGroupLabels": ["Group 1"]}, {"type": "PROCEDURE", "name": "telerehabilitation-based physiotheraphy training", "description": "The telerehabilitation application will be carried out by video conference method, one of the image-based telerehabilitation technologies. The telerehabilitation-based physiotherapy program will be administered to both Group 1 and Group 2 children by a physiotherapist experienced in the physiotherapy of neuromuscular diseases, excluding the researchers who performed the randomization and evaluations.", "armGroupLabels": ["Group 1", "Group 2"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["39648851"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":55,"NCTID":"NCT03433807","Title":"Expanded Access Protocol (EAP) of Idebenone in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Santhera Pharmaceuticals","Organization Class":"INDUSTRY","Brief Title":"Expanded Access Program for Idebenone in Participants With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2023-04-01T00:00:00","Overall Status":"NO_LONGER_AVAILABLE","Brief Summary":"The 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.","Study Type":"EXPANDED_ACCESS","Eligibility Criteria":"Inclusion Criteria:\n\n* 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.\n* Minimum 8 years old at Prescreening.\n* 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.\n* Able to understand program requirements and swallow program medication.\n* 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).\n\nExclusion Criteria:\n\n* Eligible for and able to participate in an ongoing clinical trial of idebenone.\n* Is at high-risk of a fatal outcome from lung infection and/or advanced cardiomyopathy in the opinion of the Treating physician.\n* Known moderate or severe impairment of hepatic function or severe impairment of renal function.\n* 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.\n* Abuse of drugs or alcohol, which in Treating physician's opinion would interfere with the compliance to treatment.\n* Known individual hypersensitivity to idebenone or to any of the ingredients/excipients of the program medication.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-02-08","Study First Submit QC Date":"2018-02-08","Last Update Submit Date":"2023-04-20","Study First Post Date":"2018-02-15","Last Update Post Date":"2023-04-21","Start Date":null,"Primary Completion Date":null,"Completion Date":null,"Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":null,"Primary Outcome Measure":null,"Secondary Outcome Measure":null,"Healthy Volunteers":null,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Idebenone", "description": "900 mg idebenone/day (2 tablets to be taken 3 times a day with meals)"}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":56,"NCTID":"NCT03951675","Title":"The Burden of Access in Duchenne Muscular Dystrophy in the US. A Qualitative Assessment of the Impact of Access on the Lives of Families Affected by DMD and Their Healthcare Providers.","Organization Study ID":null,"Organization Full Name":"University of Florida","Organization Class":"OTHER","Brief Title":"The Burden of Access in Duchenne Muscular Dystrophy in the US","Status Verified Date":"2020-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nPatient/Parent interviews\n\n* 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,\n* Have provide \"Proof of DMD\" to ensure that they are impacted by the disease,\n* Who have provided sufficient information in the RSVP process to determine their functional status; ambulatory, transitional or non-ambulatory,\n* State that they are the person who deals with insurance issues for the affected patient and,\n* Who are able to understand and consent to participation in the study\n\nHealthcare Provider survey\n\n* Healthcare providers (physicians, nurse practitioners, and physician assistants) currently involved in the care of patients with DMD\n* Are currently practicing in the US,\n* Who have provided sufficient information in the survey screening to determine that they currently care for DMD patients,\n* 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,\n* Who are able to understand and consent to participation in the study\n\nExclusion Criteria:\n\n* There are no stated exclusion criteria in this study. Study population must meet all inclusion criteria in order to be deemed eligible to participate.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-05-14","Study First Submit QC Date":"2019-05-14","Last Update Submit Date":"2020-08-04","Study First Post Date":"2019-05-15","Last Update Post Date":"2020-08-06","Start Date":"2019-06-18","Primary Completion Date":"2020-05-28","Completion Date":"2020-05-28","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":57,"Primary Outcome Measure":[{"measure": "Burden frequency by functional category", "description": "The 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.", "timeFrame": "Over 12 months"}],"Secondary Outcome Measure":[{"measure": "Burden frequency by type of insurance", "description": "The 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.", "timeFrame": "Over 12 months"}, {"measure": "Life impact frequency by functional category", "description": "The 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.", "timeFrame": "Over 12 months"}, {"measure": "Life impact frequency by type of insurance", "description": "The 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.", "timeFrame": "Over 12 months"}],"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":99,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":57,"NCTID":"NCT02241434","Title":"The Role of Autologous Bone Marrow Mononuclear Cell Therapy in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Neurogen Brain and Spine Institute","Organization Class":"OTHER","Brief Title":"Stem Cell Therapy in Duchenne Muscular Dystrophy","Status Verified Date":"2018-10-01T00:00:00","Overall Status":"WITHDRAWN","Brief Summary":"The purpose of this study was to study the effect of stem cell therapy in patients with Duchenne Muscular Dystrophy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* age group of 3-25 years\n* Duchenne muscular dystrophy diagnosed on the basis of clinical presentation\n\nExclusion Criteria:\n\n* presence of respiratory distress\n* presence of acute infections such as Human Immunodeficient Virus/Hepatitis B Virus/Hepatitis C Virus\n* malignancies\n* acute medical conditions such as respiratory infection, fever, hemoglobin less than 8, bleeding tendency, bone marrow disorder, left ventricular ejection fraction \\< 30%\n* pregnancy or breastfeeding","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-09-12","Study First Submit QC Date":"2014-09-12","Last Update Submit Date":"2018-10-23","Study First Post Date":"2014-09-16","Last Update Post Date":"2018-10-25","Start Date":"2009-01-01","Primary Completion Date":"2016-01-01","Completion Date":"2016-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this study was to study the effect of stem cell therapy in patients with Duchenne Muscular Dystrophy.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":0,"Primary Outcome Measure":[{"measure": "Manual Muscle Testing", "timeFrame": "1 year"}],"Secondary Outcome Measure":[{"measure": "Brooke and Vignos Scale", "timeFrame": "1 year"}],"Healthy Volunteers":false,"Minimum Age (Years)":3,"Maximum Age (Years)":25,"Interventions":[{"type": "BIOLOGICAL", "name": "Stem Cell", "description": "Intrathecal autologous bone marrow mononuclear cell transplantation", "armGroupLabels": ["Stem Cell"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":58,"NCTID":"NCT02286947","Title":"An Open-Label, Multi-Center Study to Evaluate the Safety and Tolerability of Eteplirsen in Patients With Advanced Stage Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Safety Study of Eteplirsen to Treat Advanced Stage Duchenne Muscular Dystrophy","Status Verified Date":"2020-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male 7 - 21 years of age\n* Diagnosis of DMD with a mutation that is amenable to exon 51 skipping, confirmed by a genetic report\n* Stable dose of oral corticosteroids for at least 24 weeks or has not received corticosteroids for at least 24 weeks\n* Non-ambulatory, or incapable of walking ≥300 meters on the 6-Minute Walk Test (6MWT).\n* Score of ≤4 on the Brooke Score for Arms and Shoulders.\n* Stable cardiac and pulmonary function\n* Use of contraceptives for sexually active males throughout the study\n* Willing to provide consent and comply with the study\n\nExclusion Criteria:\n\n* 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).\n* Previous treatment with SMT C1100/BMN 195 at any time.\n* Previous treatment with drisapersen (PRO051) within the last 6 months.\n* Participation in any other DMD interventional clinical study within 12 weeks\n* Major change in physiotherapy regimen within the past 3 months\n* Major surgery within 3 months\n* Presence of other clinically significant illness\n* Use of an aminoglycoside antibiotic within 12 weeks or the need for this antibiotic or statin during study\n* Forced vital capacity % predicted \\[FVC % predicted\\] \\<40%, or requiring daytime ventilation.\n* Require antiarrhythmic and/or antidiuretic therapy for heart failure.\n* Have a left ventricular ejection fraction (LVEF) of \\<40%.\n* 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.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-10-30","Study First Submit QC Date":"2014-11-05","Last Update Submit Date":"2020-03-26","Study First Post Date":"2014-11-10","Last Update Post Date":"2020-03-30","Start Date":"2014-11-01","Primary Completion Date":"2017-04-21","Completion Date":"2018-03-23","Oversight Has DMC":"false","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE2"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events", "description": "An 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.", "timeFrame": "From first dose of drug up to 100 weeks"}],"Secondary Outcome Measure":[{"measure": "Number of Participants With Potentially Clinically Significant Laboratory Abnormalities", "description": "Laboratory 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.\n\nIncr=increase; LLN=lower limit of normal; ULN=upper limit of normal; GGT=gamma glutamyl transferase", "timeFrame": "Baseline up to 100 weeks"}, {"measure": "Number of Participants With Potentially Clinically Significant Abnormalities in Vital Signs", "description": "Vital 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.", "timeFrame": "Baseline up to 100 weeks"}, {"measure": "Number of Participants With at Least One Potentially Clinically Significant Abnormalities in Physical Examinations", "description": "Physical 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.", "timeFrame": "Baseline up to 100 weeks"}, {"measure": "Number of Participants With Abnormalities in Electrocardiograms (ECGs)", "description": "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.\n\nmsec=milliseconds; QTcF=QT interval corrected with Fridericia's method", "timeFrame": "Baseline up to 100 weeks"}, {"measure": "Number of Participants With Abnormalities in Echocardiograms (ECHO)", "description": "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.\n\nLEVF=left ventricular ejection fraction", "timeFrame": "Baseline up to 100 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":21,"Interventions":[{"type": "DRUG", "name": "Eteplirsen", "description": "Eteplirsen solution for IV infusion", "armGroupLabels": ["Eteplirsen 30 mg/kg"], "otherNames": ["AVI-4658", "EXONDYS 51\u00ae"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[51],"Exons Eligible":[51],"Exons Non Eligible":[],"Exons to be skipped":[51],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":59,"NCTID":"NCT03372655","Title":"Prognstic Factors Affecting Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Assiut University","Organization Class":"OTHER","Brief Title":"Prognostic Factors Affecting Duchenne Muscular Dystrophy","Status Verified Date":"2017-12-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Determination of prognostic factors affecting ambulation of duchenne muscular dystrophy","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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\n\nExclusion Criteria:\n\n* female patient ' age below 10 yrs old or above 18 yrs old .patient with autoimmune disease or malignancy","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2017-12-06","Study First Submit QC Date":"2017-12-10","Last Update Submit Date":"2017-12-10","Study First Post Date":"2017-12-14","Last Update Post Date":"2017-12-14","Start Date":"2018-01-01","Primary Completion Date":"2019-01-01","Completion Date":"2019-03-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Determination of prognostic factors affecting ambulation of duchenne muscular dystrophy","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":82,"Primary Outcome Measure":[{"measure": "Ten meter walking test", "description": "Questionnaire", "timeFrame": "2018 - 2019"}],"Secondary Outcome Measure":[{"measure": "Muscle strenght", "description": "Questionnaire", "timeFrame": "2018- 2019"}],"Healthy Volunteers":null,"Minimum Age (Years)":10,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":60,"NCTID":"NCT02161835","Title":"Relations Between Fitness Status and the Severity of Myotonia in Patients With Congenital Myotonia","Organization Study ID":null,"Organization Full Name":"Rigshospitalet, Denmark","Organization Class":"OTHER","Brief Title":"Relations Between Myotonia and Fitness","Status Verified Date":"2015-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Investigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosed with either Myotonia congenita or Paramyotonia congenita.\n* Patients who have symptoms of myotonia while they are walking stairs.\n\nExclusion Criteria:\n\n* Pregnant or breastfeeding women.\n* Physical or mental condition, which prevent participating in the study protocol or which could influence the results.\n* Participating in other studies, which could influence the results.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-06-06","Study First Submit QC Date":"2014-06-10","Last Update Submit Date":"2015-05-13","Study First Post Date":"2014-06-12","Last Update Post Date":"2015-05-14","Start Date":"2014-04-01","Primary Completion Date":"2015-02-01","Completion Date":"2015-02-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Investigators aimed to investigate whether training can increase fitness levels in patients with myotonia, and thereby reduce the symptom of myotonia.","Conditions":"Congenital Myotonia","Phases":["NA"],"Enrollment Count":9,"Primary Outcome Measure":[{"measure": "Changes in myotonia", "description": "Changes 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.", "timeFrame": "Week 0 and week 10"}],"Secondary Outcome Measure":[{"measure": "Changes in fitness", "description": "An 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.", "timeFrame": "baseline and after week 10"}, {"measure": "Changes in creatine Kinase", "description": "Creatine Kinase (CK) is measure in plasma to follow muscle injury during the trial.", "timeFrame": "baseline, week 2, week 4, week 7 and week 10"}, {"measure": "Changes in other myotonia", "description": "Myotonia 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.\n\nThe outcome measure is changes between before and after training.", "timeFrame": "baseline and after week 10"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":75,"Interventions":[{"type": "OTHER", "name": "Training", "description": "30 minutes of home based pulse watch regulated cycle-ergometer exercise, three times a week at 75% of maximal oxygen consumption.", "armGroupLabels": ["Training"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["http://neuromuscular.dk"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":61,"NCTID":"NCT01712152","Title":null,"Organization Study ID":null,"Organization Full Name":"Hospital Rudolfstiftung","Organization Class":"OTHER","Brief Title":"Myocardial Involvement in Carriers of Duchenne Muscular Dystrophy: An MRI-study","Status Verified Date":"2016-10-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Carriers of Duchenne muscular dystrophy (DMD) often have no severe symptoms of the scelet muscles, but they may develop a poor heart function due to the involvement of the heart muscle. Ultrasound of the heart is recommended, but it can detect a cardiac affection only after the heart has already become weaker. Cardiac magnetic resonance tomography can detect myocardial fibrosis already at preserved heart function and may facilitate early therapy. In our study, diagnosed carriers of DMD will undergo examinations of the heart by blood tests, EKG, heart ultrasound and magnetic resonance at enrollment and after one year in order to assess the extent of cardiac affection and its association with the clinical development.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\ngenetic and/or histological identification as a carrier of DMD age above 18 years able and willing to conform to the requirements of the study provided written informed consent exclusion of pregnancy in women of childbearing potential\n\nExclusion Criteria:\n\nClaustrophobia Excessive obesity to an extent where CMR cannot be performed Chronic renal failure with a GFR \\<30 ml/min/1,73m² Implanted pacemakers/defibrillators Severe arrhythmia Inability to cooperate during the CMR Known intolerance to gadolinium Positive pregnancy test Unable or unwilling to conform to the study protocol","Sex":"FEMALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2012-10-19","Study First Submit QC Date":"2012-10-22","Last Update Submit Date":"2016-10-03","Study First Post Date":"2012-10-23","Last Update Post Date":"2016-10-04","Start Date":"2012-10-01","Primary Completion Date":"2014-04-01","Completion Date":"2015-09-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Carriers of Duchenne muscular dystrophy (DMD) often have no severe symptoms of the scelet muscles, but they may develop a poor heart function due to the involvement of the heart muscle. Ultrasound of the heart is recommended, but it can detect a cardiac affection only after the heart has already become weaker. Cardiac magnetic resonance tomography can detect myocardial fibrosis already at preserved heart function and may facilitate early therapy. In our study, diagnosed carriers of DMD will undergo examinations of the heart by blood tests, EKG, heart ultrasound and magnetic resonance at enrollment and after one year in order to assess the extent of cardiac affection and its association with the clinical development.","Conditions":"Carrier of Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "T1 mapping", "description": "T1 mapping by MOLLI sequences will be performed and compared between study entry and one year follow-up", "timeFrame": "1 year"}],"Secondary Outcome Measure":[{"measure": "left ventricular function", "description": "left ventricular function on MRI will be compared between study entry and one year follow-up", "timeFrame": "1 year"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["27660108"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":62,"NCTID":"NCT05110885","Title":"Public Awareness Level of SMA and DMD Muscle Disorders in Turkey, Attitudes Toward Screening of Newborn and Carrier and Physiotherapy Practice","Organization Study ID":null,"Organization Full Name":"Bahçeşehir University","Organization Class":"OTHER","Brief Title":"Public AttitudesTowards SMA and DMD Awareness, Newborn and Carrier Screening and Physiotherapy Practices","Status Verified Date":"2021-11-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial.\n\nIn 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.\n\nThus, this study aimed to determine the factors that affect people's views on this subject.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* All man and women 18-50 years old\n* Volunteering to participate in the study\n* Live in Turkey\n* Being able to read and understand survey questions\n\nExclusion Criteria:\n\n* Refusal to participate\n* Cognitive impairment preventing understanding of the questionnaire and self-reporting","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2021-10-08","Study First Submit QC Date":"2021-10-27","Last Update Submit Date":"2021-11-08","Study First Post Date":"2021-11-08","Last Update Post Date":"2021-11-10","Start Date":"2021-11-01","Primary Completion Date":"2022-01-01","Completion Date":"2022-01-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The addition of SMA and DMD muscle diseases to newborn screening and premarital carrier screening has been controversial.\n\nIn 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.\n\nThus, this study aimed to determine the factors that affect people's views on this subject.","Conditions":"Spinal Muscular Atrophy;Duchenne Muscular Dystrophy;Healthy Individuals","Phases":null,"Enrollment Count":200,"Primary Outcome Measure":[{"measure": "Awareness level of community on the SMA and DMD diseases.", "description": "Questionnaire", "timeFrame": "Day 1."}, {"measure": "Attitudes of community towards SMA/DMD newborn screening and carrier screening.", "description": "Questionnaire", "timeFrame": "Day 1."}, {"measure": "Public opinion towards the effectiveness of physiotherapy and rehabilitation on DMD/SMA.", "description": "Questionnaire", "timeFrame": "Day 1."}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":50,"Interventions":[{"type": "OTHER", "name": "Questionnaire", "description": "A questionnaire prepared by the researchers will be presented to the group.", "armGroupLabels": ["Individuals living in Turkey"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":63,"NCTID":"NCT06379906","Title":"The Association Between Upper Extremity Muscle Strength, Balance and Functional Skills in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Halic University","Organization Class":"OTHER","Brief Title":"Upper Extremity Muscle Strength, Balance and Functional Skills in DMD","Status Verified Date":"2024-04-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study aims to examine the relationship between upper extremity muscle strength, balance and functional skills of children with DMD.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* diagnosed with DMD by a child neurologist and confirmed by genetic test results,\n* were at Level 1-4 according to Brooke Lower Extremity Functional Classification (able to ambulate independently and get up from a chair)\n* had cooperation with the researchers\n\nExclusion Criteria:\n\n* had undergone a surgical operation in the last 6 months\n* had contractures that would affect functional activities","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-04-18","Study First Submit QC Date":"2024-04-18","Last Update Submit Date":"2024-04-24","Study First Post Date":"2024-04-23","Last Update Post Date":"2024-04-25","Start Date":"2023-11-10","Primary Completion Date":"2023-12-10","Completion Date":"2024-03-10","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study aims to examine the relationship between upper extremity muscle strength, balance and functional skills of children with DMD.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":32,"Primary Outcome Measure":[{"measure": "Upper Extremity Muscle Strength Measurements", "timeFrame": "one time (baseline)"}, {"measure": "Trunk Control Measurement Scale", "timeFrame": "one time (baseline)"}, {"measure": "Functional Reach Test", "timeFrame": "one time (baseline)"}, {"measure": "Timed Up & Go Test", "timeFrame": "one time (baseline)"}],"Secondary Outcome Measure":[{"measure": "Pediatric Evaluation of Disability Inventory", "timeFrame": "one time (baseline)"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Assessment", "description": "Baseline assessment"}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["41708510"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":64,"NCTID":"NCT07015632","Title":"Quantitative Analysis of Upper Extremity Functional Movement of the Upper Extremity in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Seoul National University Hospital","Organization Class":"OTHER","Brief Title":"ML-Based Multi-Sensor Fall Risk Screening in DMD","Status Verified Date":"2025-05-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"This prospective observational study aims to analyze changes in upper extremity functional movement over time in children with Duchenne Muscular Dystrophy (DMD). Thirty patients will be evaluated at three time points (baseline, 6 months, 12 months) using clinical assessments (PUL 2.0, Brooke Scale, grip strength), computer vision-based video analysis, and machine learning algorithms. The goal is to improve future upper limb evaluation methods for non-ambulatory DMD patients. The study includes safety monitoring and adheres to ethical standards, ensuring patient data confidentiality and providing compensation if adverse effects occur.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Individuals with a confirmed genetic diagnosis of Duchenne Muscular Dystrophy (DMD)\n2. Age over 10 and under 30 years\n3. Brooke Scale score between 2 and 5\n4. Manual muscle test grade below 3 for shoulder abduction muscles\n\nExclusion Criteria:\n\n1. Individuals who are unable or unwilling to provide informed consent\n2. Brooke Scale score of 1 or 6\n3. Individuals with cognitive impairments that significantly limit their ability to participate in assessments","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2025-06-03","Study First Submit QC Date":"2025-06-03","Last Update Submit Date":"2025-06-10","Study First Post Date":"2025-06-11","Last Update Post Date":"2025-06-13","Start Date":"2024-07-18","Primary Completion Date":"2025-07-30","Completion Date":"2026-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This prospective observational study aims to analyze changes in upper extremity functional movement over time in children with Duchenne Muscular Dystrophy (DMD). Thirty patients will be evaluated at three time points (baseline, 6 months, 12 months) using clinical assessments (PUL 2.0, Brooke Scale, grip strength), computer vision-based video analysis, and machine learning algorithms. The goal is to improve future upper limb evaluation methods for non-ambulatory DMD patients. The study includes safety monitoring and adheres to ethical standards, ensuring patient data confidentiality and providing compensation if adverse effects occur.","Conditions":"DMD","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Performance of the upper limb module 2.0", "description": "The Performance of the Upper Limb (PUL) Module 2.0 is a validated assessment tool designed to evaluate upper limb function in individuals with Duchenne Muscular Dystrophy. The PUL 2.0 consists of 22 items covering three domains: shoulder level, mid-level (elbow), and distal level (hand). Each item is scored based on task performance, and the total score ranges from 0 to 42, with higher scores indicating better upper limb function.", "timeFrame": "baseline - 6 months - 12 months"}],"Secondary Outcome Measure":[{"measure": "Brooke score", "description": "The Brooke Upper Extremity Functional Rating Scale is a 6-point scale used to evaluate upper limb functional ability, primarily in patients with neuromuscular disorders such as Duchenne Muscular Dystrophy. Scores range from 1 to 6, where:\n\n1 = Able to abduct arms in a full circle until they touch above the head 6 = Cannot raise hands to the mouth and has no useful function of the hands\n\nLower scores indicate better upper limb function.", "timeFrame": "baseline - 6 months - 12 months"}, {"measure": "grip strength", "description": "Grip strength will be measured using the Jamar Plus+ Digital Hand Dynamometer, a validated and widely used device for quantifying hand grip strength in kilograms (kg). Participants will be instructed to sit upright with the shoulder adducted and neutrally rotated, elbow flexed at 90 degrees, forearm in neutral position, and wrist in 0 to 30 degrees extension. The average of three consecutive trials will be recorded for each assessment. Higher values indicate greater grip strength.", "timeFrame": "baseline - 6 months - 12 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":10,"Maximum Age (Years)":30,"Interventions":[{"type": "OTHER", "name": "Performance of the Upper Limb, Brooke Scale, grip strength test", "description": "Thirty patients will be evaluated at three time points (baseline, 6 months, 12 months) using clinical assessments (PUL 2.0, Brooke Scale, grip strength), computer vision-based video analysis, and machine learning algorithms."}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":65,"NCTID":"NCT01540604","Title":"An Open-label, Un-controlled, Single-centre Trial Investigating the Efficacy and Safety of CRD007 in Children With Duchenne Muscular Dystrophy (DMD) or Becker Muscular Dystrophy (BMD) or Children Being Symptomatic Carriers for DMD or BMD","Organization Study ID":null,"Organization Full Name":"RSPR Pharma AB","Organization Class":"INDUSTRY","Brief Title":"CRD007 for the Treatment of Duchenne Muscular Dystrophy, Becker Muscular Dystrophy and Symptomatic Carriers","Status Verified Date":"2012-10-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is an investigation of the efficacy and safety of CRD007 in Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and symptomatic carriers.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Documented diagnosis of dystrophinopathy\n\nExclusion Criteria:\n\n* Severe functional impairment","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2012-02-23","Study First Submit QC Date":"2012-02-28","Last Update Submit Date":"2012-10-01","Study First Post Date":"2012-02-29","Last Update Post Date":"2012-10-02","Start Date":null,"Primary Completion Date":null,"Completion Date":null,"Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This is an investigation of the efficacy and safety of CRD007 in Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD) and symptomatic carriers.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":null,"Primary Outcome Measure":null,"Secondary Outcome Measure":null,"Healthy Volunteers":null,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "CRD007", "armGroupLabels": ["CRD007 10 mg tablet"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":66,"NCTID":"NCT05066633","Title":"The Efficacy and Safety of Metoprolol as add-on Treatment to Standard of Care in Preventing Cardiomyopathy in Patients With Duchenne Muscular Dystrophy Aged 8-16 Years. A Randomized, Double-blind, Placebo-controlled Study","Organization Study ID":null,"Organization Full Name":"Medical University of Gdansk","Organization Class":"OTHER","Brief Title":"The Efficacy and Safety of Metoprolol as add-on Treatment to Standard of Care in Preventing Cardiomyopathy in Patients With DMD","Status Verified Date":"2021-09-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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)\n* Stated willingness to comply with all study procedures and availability for the duration of the study\n* Ability to take oral medication and be willing to adhere to the study intervention regimen\n* 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)\n* Taking ACEi treatment at minimum required doses for at least 30 days\n\nExclusion Criteria:\n\n* Current or previous permanent use of any beta-blocker medication\n* Treatment with another investigational drug or other intervention within 3 months prior to screening\n* 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\n* Presence of pacemaker or ICD\n* Clinical signs or symptoms of heart failure\n* Left ventricular Ejection Fraction (LVEF) \\<57% (assessed by Teichholtz echocardiography)\n* Inability to obtain adequate quality echocardiography images (necessary to monitor for primary endpoint and safety)\n* Known allergic reactions to components of the IMPs","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2021-09-23","Study First Submit QC Date":"2021-09-23","Last Update Submit Date":"2021-09-23","Study First Post Date":"2021-10-04","Last Update Post Date":"2021-10-04","Start Date":"2021-08-18","Primary Completion Date":"2023-06-30","Completion Date":"2026-06-30","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE3"],"Enrollment Count":150,"Primary Outcome Measure":[{"measure": "Change in left ventricular ejection fraction (LVEF %) by Teichholtz method (echocardiography), compared to baseline at Interim Analysis and Final Analysis.", "description": "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.", "timeFrame": "24 months"}],"Secondary Outcome Measure":[{"measure": "DFS (the time to develop clinically evident heart failure)", "description": "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 failure", "timeFrame": "24 months"}, {"measure": "Prevalence of patients with myocardial fibrosis assessed by LGE Cardiac magnetic resonance (CMR)", "description": "To evaluate whether metoprolol succinate in addition to standard of care treatment compared to placebo in children with DMD delays progression of LGE in CMR", "timeFrame": "24 months"}, {"measure": "Prevalence of patients with sinus tachycardia based on resting HR (ECG) or defined as mean daily heart rate above 95th percentile for age and sex", "description": "To 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 patients", "timeFrame": "24 months"}, {"measure": "The rate of AE and SAE", "description": "To assess the safety and tolerability of metoprolol succinate in children with DMD", "timeFrame": "24 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":8,"Maximum Age (Years)":17,"Interventions":[{"type": "DRUG", "name": "Metoprolol Succinate", "description": "Metoprolol Succinate will be in the form of tablets and will be administered orally once daily. The dose will depend on the patient's weight category. Subject should take their treatment at a consistent time each day to promote compliance. IMP will be up titrated. Every two weeks the patients will be given the higher dose of metoprolol succinate or placebo accordingly to scheme.", "armGroupLabels": ["Treatment Group"]}, {"type": "DRUG", "name": "Placebo", "description": "Placebo will be in the form of identical tablets and will be administered orally once daily.", "armGroupLabels": ["Control Group"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://medmd.gumed.edu.pl/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":67,"NCTID":"NCT01239758","Title":"An Open-Label Extension Study to Evaluate the Safety, Tolerability, and Pharmacodynamics of ACE-031 (ActRIIB-IgG1) in Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Acceleron Pharma, Inc., a wholly-owned subsidiary of Merck & Co., Inc., Rahway, NJ USA","Organization Class":"INDUSTRY","Brief Title":"Extension Study of ACE-031 in Subjects With Duchenne Muscular Dystrophy","Status Verified Date":"2013-01-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"To 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.\\]","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Completion of participation in Study A031-03 and Investigator approval\n* Continuation of corticosteroid therapy at the same absolute dose and schedule as on Study A031-03\n\nExclusion Criteria:\n\n* Participation in any other therapeutic clinical trial\n* Plans to have surgery during the course of the study","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2010-11-01","Study First Submit QC Date":"2010-11-10","Last Update Submit Date":"2013-01-30","Study First Post Date":"2010-11-11","Last Update Post Date":"2013-02-01","Start Date":"2010-10-01","Primary Completion Date":"2011-05-01","Completion Date":"2011-05-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"To 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.\\]","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":11,"Primary Outcome Measure":[{"measure": "Number of patients with adverse events.", "timeFrame": "From treatment initiation to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in laboratory parameters and vital signs.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}],"Secondary Outcome Measure":[{"measure": "Percent change in total lean body mass by DXA scan.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Percent change in total body and lumbar spine bone mineral density by DXA scan.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Percent change in muscle strength score by hand-held myometry.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in distance traveled in 6 minutes (standardized 6-Minute-Walk Test).", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in time to travel 10 meters (standardized 10-Meter-Walk/Run test).", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}, {"measure": "Change in pulmonary function tests.", "timeFrame": "Baseline to End-of-Study Visit, approximately 24 weeks later."}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":[{"type": "BIOLOGICAL", "name": "ACE-031 (Extension of cohort 1 from core study, A031-03)", "description": "ACE-031 0.5 mg/kg subcutaneously once every 4 weeks for 24 weeks.", "armGroupLabels": ["ACE-031 (Extension of cohort 1 from core study, A031-03)"]}, {"type": "BIOLOGICAL", "name": "ACE-031 (Extension of cohort 2 from core study, A031-03)", "description": "Up to 1.0 mg/kg subcutaneously once every 2 weeks for 24 weeks.", "armGroupLabels": ["ACE-031 (Extension of cohort 2 from core study, A031-03)"]}, {"type": "BIOLOGICAL", "name": "ACE-031 (Extension of cohort 3 from core study, A031-03)", "description": "Up to 2.5 mg/kg subcutaneously once every 4 weeks for 24 weeks.", "armGroupLabels": ["ACE-031 (Extension of cohort 3 from core study, A031-03)"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":68,"NCTID":"NCT05257473","Title":"Defining Endpoints in Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Virginia Commonwealth University","Organization Class":"OTHER","Brief Title":"Defining Endpoints in Becker Muscular Dystrophy","Status Verified Date":"2026-06-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nFor ages 6-12\n\n1. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)\n2. Genetic confirmation of an in-frame dystrophin mutation\n3. Ambulatory\n4. Willing and able to give informed consent and follow all procedures and requirements\n\nFor ages 13 and older\n\n1. Clinically affected (defined as weakness on bedside evaluation in a pattern consistent with BMD)\n2. Genetic confirmation of a dystrophin mutation\n3. Willing and able to give informed consent and follow all procedures and requirements\n\nFor participants in the MRI substudy:\n\n1\\. Ambulatory, defined as able to walk 10 meters without assistive devices (orthotics allowed)\n\nExclusion Criteria:\n\nFor ages 6-12\n\n1. Out of frame dystrophin mutation\n2. Use of chronic corticosteroids at baseline, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population\n3. Non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)\n4. \\>16 hours of ventilatory support\n5. 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.\n6. Under the age of 6 at time of enrollment\n7. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)\n\nFor ages 13 and older\n\n1. Loss of ambulation prior to age 16\n2. Use of chronic corticosteroids, defined as greater than 6 months of chronic use, will be limited to 20% of the overall population\n3. Less than 30% of the overall population will be non-ambulatory, defined as the inability to walk 10 meters without assistive device (excluding orthotics)\n4. \\>16 hours of ventilatory support\n5. Subjects aged 13-16 only: time to rise \\>10 seconds\n6. For MR Cohort: Have contraindications to MRI or MRS (e.g., non-MR compatible implanted medical devices or severe claustrophobia)","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-01-25","Study First Submit QC Date":"2022-02-15","Last Update Submit Date":"2026-06-08","Study First Post Date":"2022-02-25","Last Update Post Date":"2026-06-10","Start Date":"2022-04-13","Primary Completion Date":"2026-08-01","Completion Date":"2026-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This is a 24-month, observational study of 50 participants with Becker muscular dystrophy (BMD)","Conditions":"Becker Muscular Dystrophy;Muscular Dystrophies;Muscular Dystrophy in Children;Muscular Dystrophy, Becker","Phases":null,"Enrollment Count":80,"Primary Outcome Measure":[{"measure": "To assess the natural history of measures of muscle function in BMD", "description": "North 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.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "4-Stair Climb", "description": "Participants will perform the 4-stair climb with instructions to ascend 4 steps as quickly and as safely possible, using handrails if needed.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "100-Meter Timed Test", "description": "The 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.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "PERFORMANCE OF UPPER LIMB 2.0 (PUL)", "description": "The PUL is a tool designed for assessing upper limb function in persons with neuromuscular disorders.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "HAND HELD DYNAMOMETRY (HHD) AND GRIP", "description": "Hand 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.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "TIMED UP-AND-GO (TUG)", "description": "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.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "Measures of Pulmonary Function (Seated and supine FVC)", "description": "Spirometry will be performed in a sitting and supine position using standardized equipment. Forced vital capacity (FVC) sitting and supine.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "Measures of Pulmonary Function (MEP and MIP)", "description": "Sitting maximal expiratory and inspiratory pressures (MEP and MIP) will be assessed.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "Measures of Pulmonary Function (other)", "description": "Use of nocturnal or daytime positive pressure ventilation (PPV) (e.g., BiPAP or CPAP) will be recorded.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "Measure of ejection fraction (ECHO)", "description": "A transthoracic echocardiogram (ECHO) will be performed. Measures of ejection fraction will be recorded.", "timeFrame": "Through study completion, an average of 2 years"}, {"measure": "Measure of systolic and diastolic function (ECHO)", "description": "A transthoracic echocardiogram (ECHO) will be performed. Measures of presence of systolic and diastolic function will be recorded.", "timeFrame": "Through study completion, an average of 2 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["37591308"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":69,"NCTID":"NCT00207857","Title":"Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Children's Healthcare of Atlanta","Organization Class":"OTHER","Brief Title":"Test-Retest Reliability of Pulmonary Function Tests in Patients With Duchenne's Muscular Dystrophy","Status Verified Date":"2015-02-01T00:00:00","Overall Status":"WITHDRAWN","Brief Summary":"Nearly 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male\n* Duchenne's Muscular Dystrophy with diagnosed confirmed by a neurologist\n* No longer able to ambulate for any meaningful amount of time\n* No previous spinal operation\n\nExclusion Criteria:\n\n* Any other type of muscular dystrophy or spinal muscular atrophy\n* Tracheotomy\n* Contractures of the upper extremities that would preclude using arm span as an estimation for height\n* Previous spinal surgery\n* Asthma, recurrent pneumonia, or other chronic lung disease","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2005-09-13","Study First Submit QC Date":"2005-09-13","Last Update Submit Date":"2015-02-02","Study First Post Date":"2005-09-21","Last Update Post Date":"2015-02-04","Start Date":"2004-03-01","Primary Completion Date":"2005-08-01","Completion Date":"2005-08-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Nearly 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.","Conditions":"Duchenne's Muscular Dystrophy;Scoliosis","Phases":null,"Enrollment Count":0,"Primary Outcome Measure":[{"measure": "PFT training", "timeFrame": "2 weeks"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":21,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":70,"NCTID":"NCT07565272","Title":"User Experience and Usability of a Disease-Specific Virtual Reality Rehabilitation Game Platform for Individuals With Duchenne Muscular Dystrophy: A Formative Evaluation","Organization Study ID":null,"Organization Full Name":"Istanbul University","Organization Class":"OTHER","Brief Title":"Usability and User Experience of a Virtual Reality Rehabilitation Game Platform in Individuals With Duchenne Muscular Dystrophy","Status Verified Date":"2026-04-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"This study aims to evaluate the usability, user experience, and tolerability of a virtual reality-based rehabilitation game platform specifically developed for individuals with Duchenne muscular dystrophy. Participants will complete a single-session gameplay experience using an immersive virtual reality headset with hand-tracking technology. Following the gameplay session, usability, enjoyment, and potential virtual reality-related discomfort will be assessed using standardized questionnaires and qualitative feedback. The study is exploratory and formative in nature and does not aim to evaluate clinical effectiveness.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Clinical diagnosis of Duchenne muscular dystrophy (DMD)\n* Aged 7 years and older\n* Brooke Upper Extremity Functional Classification level ≤ 4\n* Ability to understand and follow simple instructions\n* Ability to interact with the virtual reality system using upper extremities\n* Willingness to participate and provide informed consent (parental/guardian consent where applicable)\n\nExclusion Criteria:\n\n* Presence of neurological disorders other than DMD\n* Severe visual impairment that prevents interaction with the virtual reality system\n* Severe upper extremity contractures or deformities limiting participation\n* Cognitive, behavioral, or communication impairments interfering with study procedures\n* History of severe motion sickness or intolerance to virtual reality environments\n* Any medical condition that may pose a risk during participation, as determined by the investigator","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-04-27","Study First Submit QC Date":"2026-04-27","Last Update Submit Date":"2026-04-27","Study First Post Date":"2026-05-04","Last Update Post Date":"2026-05-04","Start Date":"2026-04-28","Primary Completion Date":"2026-05-28","Completion Date":"2026-06-28","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study aims to evaluate the usability, user experience, and tolerability of a virtual reality-based rehabilitation game platform specifically developed for individuals with Duchenne muscular dystrophy. Participants will complete a single-session gameplay experience using an immersive virtual reality headset with hand-tracking technology. Following the gameplay session, usability, enjoyment, and potential virtual reality-related discomfort will be assessed using standardized questionnaires and qualitative feedback. The study is exploratory and formative in nature and does not aim to evaluate clinical effectiveness.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":6,"Primary Outcome Measure":[{"measure": "Usability (System Usability Scale)", "description": "Usability will be assessed using the System Usability Scale (SUS), a 10-item questionnaire scored from 0 to 100, with higher scores indicating better perceived usability.", "timeFrame": "Immediately after the single-session gameplay"}, {"measure": "Virtual Reality-Related Discomfort (Virtual Reality Sickness Questionnaire)", "description": "Virtual reality-related discomfort will be assessed using the Virtual Reality Sickness Questionnaire (VRSQ), which evaluates symptoms associated with immersive virtual reality exposure.", "timeFrame": "Immediately after the single-session gameplay"}, {"measure": "Enjoyment (GUES - Game User Experience Satisfaction Scale - Enjoyment Subscale)", "description": "Enjoyment will be assessed using the enjoyment subscale of the Game User Experience Satisfaction Scale (GUES), with higher scores indicating greater perceived enjoyment during gameplay.", "timeFrame": "Immediately after the single-session gameplay"}],"Secondary Outcome Measure":[{"measure": "Qualitative User Feedback", "description": "Qualitative feedback will be collected using open-ended questions to explore participants' experiences, perceived difficulties, and suggestions for improvement.", "timeFrame": "Immediately after the single-session gameplay"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":null,"Interventions":[{"type": "OTHER", "name": "Virtual Reality Gameplay Session", "description": "Participants interact with a disease-specific virtual reality rehabilitation game platform using a fully immersive headset with hand-tracking technology during a single supervised session.", "armGroupLabels": ["DMD Participants"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":71,"NCTID":"NCT03218995","Title":"An Open-Label Safety, Tolerability, and Pharmacokinetics Study of Eteplirsen in Young Patients With Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Study of Eteplirsen in Young Participants With Duchenne Muscular Dystrophy (DMD) Amenable to Exon 51 Skipping","Status Verified Date":"2021-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male between 6 months to 48 months of age (inclusive)\n* Diagnosis of DMD with a deletion mutation amenable to exon 51 skipping\n* Parent(s) or legal guardian(s) who is willing to provide written informed consent\n\nExclusion Criteria:\n\n* Received treatment that might have an effect on muscle strength or function within 12 weeks prior to dosing\n* Received previous or current treatment with any experimental treatment\n* Clinically significant illness other than DMD\n* Clinically significant laboratory abnormality\n* Any other condition that could interfere with the participation in the study.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2017-07-09","Study First Submit QC Date":"2017-07-12","Last Update Submit Date":"2021-11-10","Study First Post Date":"2017-07-17","Last Update Post Date":"2021-12-09","Start Date":"2017-08-16","Primary Completion Date":"2021-03-10","Completion Date":"2021-03-10","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":15,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), and TEAEs Leading to Discontinuation From Study Drug", "description": "TEAEs 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.", "timeFrame": "Baseline up to Week 100"}, {"measure": "Number of Participants With at Least 1 Potentially Clinically Significant Clinical Safety Laboratory Abnormality", "description": "Clinical laboratory parameters that were evaluated included\n\n* Any Grade \u22652 (moderate) or serious event without an alternative etiology that the Investigator deemed was related to study drug\n* Two consecutive drug-related serum creatinine levels \u22652\\*upper limit of normal (ULN) without an alternative etiology\n* Creatine kinase (CK) levels \\>50,000 units/liter (U/L)\n* 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 etiology", "timeFrame": "Baseline up to Week 100"}, {"measure": "Number of Participants With at Least 1 Markedly Abnormal Vital Sign", "description": "The 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.", "timeFrame": "Baseline up to Week 100"}, {"measure": "Abnormal Changes From Baseline or Worsening of Physical Examination Findings", "description": "Data 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.", "timeFrame": "Baseline up to Week 100"}, {"measure": "Number of Participants With at Least 1 Markedly Abnormal Electrocardiogram (ECG) and Echocardiogram (ECHO)", "description": "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.", "timeFrame": "Weeks 8, 12, 24, 36, 48, 60, 72, 84, 96"}],"Secondary Outcome Measure":[{"measure": "Maximum Plasma Concentration (Cmax) of Eteplirsen", "timeFrame": "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)"}, {"measure": "Time to Reach Maximum Plasma Concentration (Tmax) of Eteplirsen", "timeFrame": "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)"}, {"measure": "Area Under Concentration-Time Curve From Time 0 to the Last Quantifiable Concentration (AUClast) of Eteplirsen in Plasma", "timeFrame": "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)"}, {"measure": "Amount of Drug Eliminated in Urine", "description": "Amount of unchanged drug excreted in urine from time 0 to 4 hours after completion of dosing is reported.", "timeFrame": "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)"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":48,"Interventions":[{"type": "DRUG", "name": "Eteplirsen", "description": "Infusion for intravenous use.", "armGroupLabels": ["Eteplirsen"], "otherNames": ["AVI-4658", "EXONDYS 51\u00ae"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[51],"Exons Eligible":[51],"Exons Non Eligible":[],"Exons to be skipped":[51],"PubMed IDs":["37207382"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":72,"NCTID":"NCT03507530","Title":"Investigating The Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Effects of Fear of Falling on Physical Performance and Quality of Life in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2018-04-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"For 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosed with Duchenne Muscular Dystrophy by a pediatric neurologist,\n* Being volunteer,\n* Being between 6 and 15 years old,\n* Being between levels 1-5 according to the Brooke Lower Extremity Functional Classification developed to classify lower extremity functions in children with DMD,\n* Being able to cooperate with the physiotherapist's directives.\n\nExclusion Criteria:\n\n* Being between levels 6-10 (children who do not have independent ambulatory ability) according to the Brooke Lower Extremity Functional Classification,\n* Not being able to cooperate with the physiotherapist's directives,\n* End of the volunteering.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-04-08","Study First Submit QC Date":"2018-04-15","Last Update Submit Date":"2018-04-25","Study First Post Date":"2018-04-25","Last Update Post Date":"2018-04-27","Start Date":"2018-04-01","Primary Completion Date":"2019-01-01","Completion Date":"2019-01-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"For 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.","Conditions":"Neuromuscular Diseases;Duchenne Muscular Dystrophy;Dystrophy;Dystrophy, Muscular","Phases":null,"Enrollment Count":40,"Primary Outcome Measure":[{"measure": "Fear of Falling", "description": "\"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.", "timeFrame": "15-30 minutes"}],"Secondary Outcome Measure":[{"measure": "History of Falls", "description": "Fall 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.", "timeFrame": "15-20 minutes"}, {"measure": "Posture Analysis", "description": "Posture analysis is made by using \"New York Posture Rating Scale\".", "timeFrame": "15-20 minutes"}, {"measure": "Performance Evaluation", "description": "6 minute walking test (6MWT) are used.", "timeFrame": "6 minutes"}, {"measure": "Evaluation of Energy Consumption", "description": "Physiological 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).", "timeFrame": "15-20 minutes"}, {"measure": "Fatigue", "description": "To 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.", "timeFrame": "15-20 minutes"}, {"measure": "Balance Assessment", "description": "The 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.", "timeFrame": "15-20 minutes"}, {"measure": "Functional Walking Assessment", "description": "Gillette 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.", "timeFrame": "5-10 minutes"}, {"measure": "Gait Analysis", "description": "Spatio-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.", "timeFrame": "15-20 minutes"}, {"measure": "Ambulation Assessment", "description": "The 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:\n\n2 - 'Normal' - no obvious modification of activity\n\n1 - Modified method but achieves goal independent of physical assistance from another 0 - Unable to achieve independently", "timeFrame": "15-20 minutes"}, {"measure": "Quality of Life", "description": "The 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.", "timeFrame": "15-20 minutes"}, {"measure": "Activity Limitation", "description": "ACTIVLIM 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.", "timeFrame": "5-10 minutes"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":15,"Interventions":[{"type": "OTHER", "name": "Assessments", "description": "Falls related assessments, functional physical performance evaluations and quality of life assessments."}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":73,"NCTID":"NCT05693142","Title":"A Phase 1/2/3 Open-label Study to Evaluate the Safety, Tolerability, Efficacy, Pharmacodynamics, and Pharmacokinetics of Intravenous RGX-202 Gene Therapy in Males With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"REGENXBIO Inc.","Organization Class":"INDUSTRY","Brief Title":"AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2025-12-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"RGX-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.\n\nThis 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.\n\nFor additional information on how to participate (or be considered for the study), please follow this link: https://mytomorro.ws/affinity-ct-gov","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Part 1 - Key Inclusion Criteria:\n\n* The participant's legal guardian(s) is (are) willing and able to provide written, signed informed consent prior to any study-related procedures; and, where applicable, the minor participant has provided written or verbal assent according to local requirements.\n* Is a male at least 4 years of age and less than 12 years of age at consent or 1 to \\<4 years of age at the time of dosing and ≥ 10 kg at the time of screening.\n* Must meet any of the following criteria:\n\n  * 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.\n  * 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.\n  * Participant is able to complete the TTSTAND per protocol-specific criteria.\n  * Participant has been on a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks. 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.\n  * 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.\n  * 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.\n  * Participant and parent(s)/legal guardian(s) are willing and able to comply with scheduled visits, study intervention administration plan, and study procedures.\n\nPart 2 and 3 Inclusion Criteria:\n\n* The participant's legal guardian(s) is (are) willing and able to provide written, signed informed consent prior to any study-related procedures; and, where applicable, the minor participant has provided written or verbal assent according to local requirements.\n* DMD gene mutation with any mutation except for those with deletions or point mutations in exons 8, 9 and/or 10.\n* Participant is able to complete the TTSTAND per protocol-specific criteria.\n* 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.\n* 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.\n* Participant and parent(s)/legal guardian(s) are willing and able to comply with scheduled visits, study intervention administration plan, and study procedures.\n* Is a male at least 1 year of age and ≥ 10 kg at the time of screening.\n* Participants 1 to \\<4 years of age must meet the following criteria:\n\n  * is able to walk 10 meters independently without assistive devices.\n  * must be consistently on or off a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks.\n* Participants 4 years and older must meet the following criteria:\n\n  * are able to walk 100 meters independently without assistive devices.\n  * have been on a stable dose of systemic glucocorticoids according to the standard of care for at least 12 weeks.\n  * have a NSAA total score ≥16.\n\nPart 1 Exclusion Criteria:\n\n* Participant has any condition that would contraindicate treatment with immunosuppression.\n* 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.\n* Participant has received any investigational or commercial gene therapy product over his lifetime.\n* 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 your corticosteroid is vamorolone, the participant will be asked to temporarily convert his daily dosing to prednisolone/prednisone during a short period of time around RGX-202 administration. He will be allowed to revert back to his baseline vamorolone regimen at the original per kilogram dose at which he entered the study and should remain on this for 24 months unless the investigator determines that this is not clinically indicated or possible.\n* Participant has impaired cardiac function defined as a left ventricular ejection fraction of \\< 55% on screening cardiac assessments (echocardiogram or MRI).\n* Participant is not a good candidate for the study, in the opinion of the investigator.\n\nPart 2 and 3 Exclusion Criteria:\n\n* Participant has any condition that would contraindicate treatment with immunosuppression.\n* Participant has received givinostat within 3 months of study entry or 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.\n* Participant has received any investigational or commercial gene therapy product over his lifetime.\n* 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 your corticosteroid is vamorolone, the participant will be asked to temporarily convert his daily dosing to prednisolone/prednisone during a short period of time around RGX-202 administration. He will be allowed to revert back to his baseline vamorolone regimen at the original per kilogram dose at which he entered the study and should remain on this for 24 months unless the investigator determines that this is not clinically indicated or possible.\n* Participant has detectable AAV8 total binding antibodies in serum.\n* Participant has impaired cardiac function defined as a left ventricular ejection fraction of \\< 55% on screening cardiac assessments echocardiogram or MRI).\n* Participant is not a good candidate for the study, in the opinion of the investigator.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2023-01-04","Study First Submit QC Date":"2023-01-12","Last Update Submit Date":"2025-12-12","Study First Post Date":"2023-01-20","Last Update Post Date":"2025-12-17","Start Date":"2023-01-04","Primary Completion Date":"2026-02-01","Completion Date":"2028-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"RGX-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.\n\nThis 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.\n\nFor additional information on how to participate (or be considered for the study), please follow this link: https://mytomorro.ws/affinity-ct-gov","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2", "PHASE3"],"Enrollment Count":65,"Primary Outcome Measure":[{"measure": "Part 1 Safety measured by incidence of Adverse Events and Serious Adverse Events", "description": "Evaluate incidences of AEs and SAEs", "timeFrame": "52 weeks"}, {"measure": "Part 2 and 3 Pharmacodynamic", "description": "Proportion of participants whose RGX-202 microdystrophin protein expression determined in their muscle biopsy is \u2265 10%", "timeFrame": "12 weeks"}],"Secondary Outcome Measure":[{"measure": "Time to Stand (TTSTAND)", "description": "Values will include time (seconds) and velocity (tasks/second)", "timeFrame": "52 Weeks (Part 1); 52 and 104 Weeks (Part 2 &3)"}, {"measure": "Time to Walk/Run 10 meters (TTWR)", "description": "Values will include time (seconds) and velocity (meters/second)", "timeFrame": "52 Weeks (Part 1) and 104 Weeks (Part 2 &3)"}, {"measure": "Time to Climb 4 Stairs (TTCLIMB)", "description": "Values will include time (seconds) and velocity (tasks/second)", "timeFrame": "52 Weeks (Part 1); 52 and 104 Weeks (Part 2 &3)"}, {"measure": "North Star Ambulatory Assessment (NSAA)", "description": "Performance-based assessment of muscle strength and function using a 17-item scale, with all items rated 0,1, or 2, with higher score indicating better performance. The NSAA total score is the sum of the 17 items, ranging from 0 to 34. NSAA linearized score ranges from 0 to 100.", "timeFrame": "52 Weeks (Part 1) and; 52 and 104 Weeks (Part 2 &3)"}, {"measure": "Peabody Developmental Motor Scale, Third Edition (PDMS-3); Body Control Subtest", "description": "The PDMS-3 is a norm-referenced developmental assessment that measures motor skills of young children. The Body Control subtest measures the child's ability to maintain balance and postural reactions in a variety of positions. Motor skills appropriate for the child's developmental level are administered and rated 0, 1, or 2, with higher score indicating better performance. Body Control subtest total raw scores range from 0 to 112. Age equivalent and scaled scores will also be generated. PDMS-3 Body Control subtests is included for participants age \\<4 at screening.", "timeFrame": "52 Weeks (Part 1); 52 and 104 Weeks (Part 2 &3)"}, {"measure": "Peabody Developmental Motor Scale, Third Edition (PDMS-3); Body Transport Subtest", "description": "The PDMS-3 is a norm-referenced developmental assessment that measures motor skills of young children. The Body Transport subtest measures the child's ability to move from one place to another, including walking, running, jumping forward, and skipping. Motor skills appropriate for the child's developmental level are administered and rated 0, 1, or 2, with higher score indicating better performance. Body Transport subtest total raw score ranges from 0 to 63. Age equivalent and scaled scores will also be generated. PDMS-3 Body Control subtests is included for participants age \\<4 at screening.", "timeFrame": "52 Weeks (Part 1); 52 and 104 Weeks (Part 2 &3)"}, {"measure": "Part 2 and 3: Stride velocity 95th centile", "description": "Assessment of peak ambulatory performance captured by wearable activity monitoring device. For velocity measures, higher values indicate greater function.", "timeFrame": "104 weeks"}, {"measure": "Part 1 Microdystrophin protein expression", "description": "RGX-202 microdystrophin protein levels determined in muscle biopsy.", "timeFrame": "12 weeks"}, {"measure": "Part 1 Pharmacokinetics (PK)", "description": "Vector genome concentrations as measured by polymerase chain reaction \\[PCR\\] to RGX-202 deoxyribonucleic acid \\[DNA\\] in muscle and serum.", "timeFrame": "12 weeks (muscle) and 52 weeks (serum)"}, {"measure": "Part 1 Vector Shedding", "description": "Vector genome concentrations as measured by polymerase chain reaction \\[PCR\\] to RGX-202 deoxyribonucleic acid \\[DNA\\] in urine.", "timeFrame": "52 weeks"}, {"measure": "Part 2 and 3 Microdystrophin protein expression", "description": "RGX-202 microdystrophin protein levels determined in muscle biopsy.", "timeFrame": "12 weeks"}, {"measure": "Part 2 and 3 Safety measured by incidence of Adverse Events and Serious Adverse Events", "description": "Evaluate incidences of AEs and SAEs", "timeFrame": "104 weeks"}, {"measure": "Part 2 and 3 Pharmacokinetics (PK)", "description": "Vector genome concentrations as measured by polymerase chain reaction \\[PCR\\] to RGX-202 deoxyribonucleic acid \\[DNA\\] in muscle and serum.", "timeFrame": "12 weeks (muscle) 52 weeks (serum)"}, {"measure": "Part 2 and 3 Vector Shedding", "description": "Vector genome concentrations as measured by polymerase chain reaction \\[PCR\\] to RGX-202 deoxyribonucleic acid \\[DNA\\] in urine, feces, and saliva.", "timeFrame": "52 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":1,"Maximum Age (Years)":null,"Interventions":[{"type": "GENETIC", "name": "RGX-202", "description": "RGX-202 is a recombinant AAV8 containing a transgene encoding a novel microdystrophin", "armGroupLabels": ["Part 1: Cohort 1 and 1b: RGX-202 Dose 1", "Part 1: Cohort 2, 2c;, and Part 2; and Part 3: RGX-202 Dose 2"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[8, 9, 10, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79],"Exons Eligible":[18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79],"Exons Non Eligible":[8, 9, 10],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://mytomorrows.com/trials/affinity-duchenne/en-us/?utm_source=ct-gov&utm_medium=referral", "http://www.regenxbiodmdtrials.com"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Gene Replacement Therapy"},{"_id":74,"NCTID":"NCT04934800","Title":"Oral CLADribine in Patients That Change From First-line Disease Modifying Treatments for Multiple Sclerosis: a pROspective effectivenesS and Safety Study (CLAD CROSS)","Organization Study ID":null,"Organization Full Name":"Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany","Organization Class":"INDUSTRY","Brief Title":"Prospective Effectiveness and Safety Study of Cladribine in Participants Who Change First-line DMD Treatments for Multiple Sclerosis (CLAD CROSS)","Status Verified Date":"2025-06-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The main aim was 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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\n* 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\n* 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)\n* Fulfilment of the criteria for treatment with Cladribine tablets per standard of care in accordance with the local Summary of Product Characteristics (SmPC)\n\nExclusion Criteria:\n\n* Contraindications to use of cladribine tablets according to the SmPC\n* Participants with history of alcohol or drug abuse that could potentially interfere with their participation in the study\n* Participants that have received Cladribine in the past\n* Concurrent participation in an investigational study in which participant assessment and/or treatment may be dictated by a protocol","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2021-06-17","Study First Submit QC Date":"2021-06-17","Last Update Submit Date":"2025-06-23","Study First Post Date":"2021-06-22","Last Update Post Date":"2025-06-24","Start Date":"2019-12-10","Primary Completion Date":"2024-05-20","Completion Date":"2024-05-20","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The main aim was 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.","Conditions":"Multiple Sclerosis","Phases":null,"Enrollment Count":256,"Primary Outcome Measure":[{"measure": "Change in Annualized Relapse Rate (ARR) Between the Pre-Baseline 12-Month Period (Baseline) and Over the 12 Months Period Before the End of Study Follow-Up (2 Years)", "description": "ARR defined as the number of relapses per year. A relapse was defined as the appearance of new symptoms or the exacerbation of pre-existing symptoms that were attributed to Multiple Sclerosis (MS) and occurred over a minimum of 24 hours and separated from a previous attack by at least 30 days, in the absence of fever or infection. Baseline ARR was defined as the total number of relapses reported in the last 12 months prior to Cladribine treatment. ARR 12-months prior to End Of Study was calculated as the sum of the number of MS relapses reported at Visit 3 and Visit 4 divided by the number of days between Visit 4 date and Visit 2 date and multiplied by 365.25. For a change from baseline, 95 percent (%) Confidence Interval (CI) for the difference were presented together with summary statistics. These CIs were included as a descriptive measure of effect.", "timeFrame": "12-months pre-baseline (Baseline) and 12 Months Prior to End of Study follow up (2 years)"}],"Secondary Outcome Measure":[{"measure": "Change in ARR Between the Pre-Baseline 12-Month Period (Baseline) and Over the 12 Months Period After the Start of Cladribine (1 Year)", "description": "ARR defined as the number of relapses per year. A relapse was defined as the appearance of new symptoms or the exacerbation of pre-existing symptoms that were attributed to MS and occurred over a minimum of 24 hours and separated from a previous attack by at least 30 days, in the absence of fever or infection. ARR 12-months after start of Cladribine was calculated as the sum of the number of MS relapses reported at Visit 1 and Visit 2 divided by the number of days between Visit 2 date and Cladribine start date and multiplied by 365.25.For a change from baseline, 95% CIs for the difference were presented together with summary statistics. These CIs were included as a descriptive measure of effect.", "timeFrame": "12-month pre-baseline period (baseline) and over the 12 months period after start of Cladribine treatment (1 year)"}, {"measure": "Percentage of Participants With 6-Month Disability Progression Measured With Expanded Disability Status Scale (EDSS)", "description": "EDSS assessed disability in 8 functional systems. It was a scale based on a standardized EDSS neurological examination, which comprised optic, brain stem, pyramidal, cerebellar, sensory, and cerebral functions, as well as walking ability. An overall score ranged from 0 (normal) to 10 (death due to MS) was calculated. Progression on EDSS was defined as at least a 1-point increase in the score or an increase of at least 1.5 points if the baseline EDSS score was 0.", "timeFrame": "At EOS (24 months follow-up)"}, {"measure": "Percentage of Participants With Overall 6-Month Disability Progression Measured With EDSS, Timed 25 Foot Walk (T25FW) or 9 Hole Peg Test (9HPT)", "description": "Disability progression was assessed if at least one assessment (EDSS, T25FW or 9HPT) was available. As per definition, disability progression was derived as \"Yes\" if at least one of the below cases occured: 1. Visit 4 EDSS is greater than (\\>=) equal to (\u2265) 1 point \\>= Visit 3 EDSS if Visit 3 EDSS is \\> 0; 2. Visit 4 EDSS is 1.5 or \\> when Visit 3 EDSS is 0; 3. 20% increase in the T25FW score (average of the two trials) from Visit 3 to Visit 4; 4. 20% increase in the 9HPT score (The two trials for each hand are averaged, converted to the reciprocals of the mean times for each hand and then the two reciprocals are averaged) from Visit 3 to Visit 4. If none of those cases occurred, disability progression will be set to \"No\". The percentage of participants with 6-month disability progression at the EOS was presented including associated 95% Clopper Pearson exact intervals.", "timeFrame": "At EOS (24 months follow-up)"}, {"measure": "Percentage of Participants With 6-Month Disability Improvement Measured With EDSS", "description": "EDSS assessed disability in 8 functional systems. It was a scale based on standardized neurological examination which comprised of optic, brain stem, pyramidal, cerebellar, sensory \\& cerebral functions, as well as walking ability. An overall score ranged from 0 (normal) to 10 (death due to MS) was calculated. Improvement on EDSS was defined as a decrease in EDSS by at least 1 point (1.5 points if baseline EDSS was 1.5).", "timeFrame": "At EOS (24 months follow-up)"}, {"measure": "Percentage of Participants With Overall 6-Month Disability Improvement Measured With EDSS, Timed 25 Foot Walk (T25FW) or 9 Hole Peg Test(9HPT)", "description": "Disability improvement was assessed if at least one assessment (EDSS, T25FW or 9HPT) was available. As per definition, disability improvement was derived as \"Yes\" if at least one of the below cases occur:1. Visit 4 EDSS is \u22651 point smaller than Visit 3 EDSS if Visit 3 EDSS is greater than 1.5;2. Visit 4 EDSS is 0 when Visit 3 EDSS is 1.5;3. 20% decrease in the T25FW score (average of the two trials) from Visit 3 to Visit 4;4. 20% decrease in the 9HPT score (The two trials for each hand are averaged, converted to the reciprocals of the mean times for each hand and then the two reciprocals are averaged) from Visit 3 to Visit 4. If none of those cases occurred, disability improvement was set to \"No\". The percentage of participants with 6-month disability improvement at the end of study was presented including associated 95% Clopper Pearson exact intervals.", "timeFrame": "At EOS (24 months follow-up)"}, {"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs) and Treatment Emergent Serious Adverse Events (TESAEs)", "description": "An AE was defined as any untoward medical occurrence in a participant administered a pharmaceutical product, regardless of causal relationship with this treatment. Therefore, an AE can be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease temporally associated with the use of a medicinal product, regardless if it is considered related to the medicinal product. Serious AE: AE that resulted in any of the following outcomes: death; life threatening; persistent/significant disability/incapacity; initial/prolonged inpatient hospitalization; congenital anomaly/birth defect. TEAEs are defined as AEs that were reported or worsened on or after start of study drug dosing through the Safety Follow-up Visit. TEAEs included both serious TEAEs and non-serious TEAEs.", "timeFrame": "From start of study up to 2 years"}, {"measure": "Quality of Life as Assessed by Multiple Sclerosis Impact Scale (MSIS-29) Score: Physical and Psychological Impact", "description": "MSIS-29 was a 29-item self-report measure with 20 items related to physical scale and 9 items with psychological scale. All items have 5 options:1-not at all to 5-extremely. Each of2 scales are scored by summing responses across items, converting to 0-100 scale where 100 indicates great impact of disease on daily function (worse health). Physical impact score computed by summing items 1-20 inclusive (observed score). This score was then transformed to a score on a scale of 0-100 using the formula:\\[100 multiplied by(observed score minus(-)20)\\] divided by(100-20). The psychological impact score was computed by summing items number21-29 inclusive(observed score). This score was then transformed to score on scale of 0-100 using the formula:\\[100 multiplied by(observed score minus 9)\\]divided by(45-9). Total score range ranges from 0-100, lower total score shows less psychological/physical-related impact while a higher total score indicated greater psychological/physical-related impact.", "timeFrame": "Baseline, Months 12 and 24"}, {"measure": "Quality of Life as Assessed by EuroQol Quality of Life Questionnaire 5 Dimensions 3 Levels (EQ-5D-3L)", "description": "Quality of Life was measured using the EQ-5D-3L questionnaire. The EQ-5D-3L asks participants to rate the following five dimensions: mobility, self-care, usual activities, pain/discomfort and anxiety/depression. EQ-5D-5L VAS was used to record a participants rating for his/her current health-related quality of life state and captured on a vertical VAS (0-100), where 0 =worst imaginable health state and 100 = best imaginable health state.", "timeFrame": "Baseline, Months 12 and 24"}, {"measure": "Treatment Satisfaction as Assessed by Treatment Satisfaction Questionnaire for Medication Version 1.4 (TSQM v1.4) Scale", "description": "TSQM version 1.4 was a global satisfaction scale used to assess the overall level of participant's satisfaction or dissatisfaction with their medications. It comprises of 14 items assessing the following 4 domains: effectiveness (questions: 1-3), side effects (questions: 4-8), convenience (questions: 9-11), global satisfaction (questions:12-14). Global Satisfaction- Question 12 scored as 1 (not at all confident) to 5 (extremely confident); question 13 scored as 1 (not at all certain) to 5 (extremely certain); and question 14 scored as 1 (extremely dissatisfied) to 7 (extremely satisfied). The scores of the domain were added together and an algorithm was used to create a score of 0 to 100. Higher scores indicated greater satisfaction.", "timeFrame": "Months 6, 12, 18 and 24"}, {"measure": "Number of Participants With Treatment Adherence", "description": "According to the World Health Organization (WHO), treatment adherence is defined as both compliance (taking the medication in the correct dose and according to the schedule prescribed) and persistency (maintenance of the drug regimen over the long-term). Adherence to treatment, calculated as 100 \u00d7 Taken tablets/Prescribed tablets", "timeFrame": "Up to Month 24"}],"Healthy Volunteers":false,"Minimum Age (Years)":18,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Cladribine", "description": "No intervention will be administered as a part of this study. Participants who had switched from first-line DMD treatments to treatment with cladribine tablets in routine clinical practice will be assessed for 2 years in this study.", "armGroupLabels": ["Cladribine"], "otherNames": ["MAVENCLAD \u00ae"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://clinicaltrials.emdgroup.com/en/trial-details/?id=MS700568_0070", "https://www.merckgroup.com/en/company/contact-us/medinfo-contact-map.html"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":75,"NCTID":"NCT03863119","Title":"An Open-Label, Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy Who Have Completed the Long-Term Extension (VBP15-LTE) or VBP15-004 or VBP15-006 Studies","Organization Study ID":null,"Organization Full Name":"Santhera Pharmaceuticals","Organization Class":"INDUSTRY","Brief Title":"Expanded Access Protocol for Boys With Duchenne Muscular Dystrophy","Status Verified Date":"2026-01-01T00:00:00","Overall Status":"AVAILABLE","Brief Summary":"The intent of this protocol is to provide continued access to vamorolone for subjects in the United States and Canada 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.","Study Type":"EXPANDED_ACCESS","Eligibility Criteria":"Inclusion Criteria:\n\n* Subject's parent or legal guardian has provided written informed consent/HIPAA authorization\n* 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\n* 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\n\nExclusion Criteria:\n\n* 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\n* 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-EAP","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-02-21","Study First Submit QC Date":"2019-03-04","Last Update Submit Date":"2026-01-16","Study First Post Date":"2019-03-05","Last Update Post Date":"2026-01-20","Start Date":null,"Primary Completion Date":null,"Completion Date":null,"Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The intent of this protocol is to provide continued access to vamorolone for subjects in the United States and Canada 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":null,"Primary Outcome Measure":null,"Secondary Outcome Measure":null,"Healthy Volunteers":null,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Vamorolone", "description": "2.0 mg/kg/day, 4.0 mg/kg/day, or 6.0 mg/kg/day at physician discretion"}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["42139656", "41774261"],"See Also Links":["http://www.ncbi.nlm.nih.gov/pubmed/30219580"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":76,"NCTID":"NCT05559710","Title":"Investigation of the Validity and Reliability of the Kinesthetic and Visual Imagery Questionnaire in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Motor Imagery in Duchenne Muscular Dystrophy","Status Verified Date":"2023-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Motor 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Having a diagnosis of DMD confirmed by a genetic test result,\n* Be between the ages of 7-18,\n* 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),\n* Ability to sit for at least 30 minutes with/without support,\n* Volunteering to participate in the study.\n\nExclusion Criteria:\n\n* Insufficient cooperation with the physiotherapist,\n* Any injury and/or surgery to the lower/upper extremities in the last 6 months\n* Having any additional neurological/orthopedic problems other than DMD.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-09-26","Study First Submit QC Date":"2022-09-26","Last Update Submit Date":"2023-11-29","Study First Post Date":"2022-09-29","Last Update Post Date":"2023-12-05","Start Date":"2022-06-20","Primary Completion Date":"2023-06-19","Completion Date":"2023-09-25","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Motor 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":58,"Primary Outcome Measure":[{"measure": "Kinesthetic and Visual Imagery Questionnaire (KVIQ)", "description": "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.", "timeFrame": "15 minutes"}],"Secondary Outcome Measure":[{"measure": "Movement Imagery Questionnaire-Children(MIQ-C)", "description": "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)", "timeFrame": "20 minutes"}, {"measure": "Modified Mini Mental Test (MMMT)", "description": "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 recorded", "timeFrame": "5 minutes"}, {"measure": "Mini Mental State Test", "description": "A 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.", "timeFrame": "5 minutes"}, {"measure": "Montreal Cognitive Assessment Scale (MoCA)", "description": "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.", "timeFrame": "10 minutes"}],"Healthy Volunteers":true,"Minimum Age (Years)":7,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["38917696"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":77,"NCTID":"NCT06594094","Title":"An Investigator-initiated Clinical Study Evaluating the CRISPR-hfCas12Max Gene Editing Therapy in the Treatment of Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"HuidaGene Therapeutics Co., Ltd.","Organization Class":"INDUSTRY","Brief Title":"An Open-label, Multidose Dose-escalation Study to Understand the Safety of CRISPR Gene-editing Therapy and Its Long-Lasting Effects in DMD Patients (MUSCLE)","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne 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.\n\nCurrently, 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.\n\nHG302 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Males ≥ 4 and ≤8 years at the time of signing informed consent, with clinical diagnosis of DMD;\n* DMD gene mutation types are deletions in exons 52, 52-61, or 52-63;\n* Able to walk at least 10 meters independently;\n* Willing to cooperate with muscle biopsy test;\n* Acceptable hematology, clinical chemistry, and urine laboratory parameters.\n\nExclusion Criteria:\n\n* Presence of active infection;\n* Presence of DMD-associated cardiomyopathy manifestations;\n* Respiratory insufficiency requiring invasive or non-invasive ventilation;\n* Serious infections such as pneumonia, pyelonephritis, or meningitis within 4 weeks prior to receiving trial drug infusion;\n* Prior central nervous system surgery within 6 months before enrolment;\n* Use of any investigational drug, or exon-skipping drug (whether investigational or not) 6 months prior to Screening;\n* Previous treatment with any gene therapy or cell therapy (e.g., stem cell transplantation);\n* 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.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-09-10","Study First Submit QC Date":"2024-09-10","Last Update Submit Date":"2026-02-13","Study First Post Date":"2024-09-19","Last Update Post Date":"2026-02-17","Start Date":"2024-11-06","Primary Completion Date":"2025-12-02","Completion Date":"2025-12-02","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne 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.\n\nCurrently, 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.\n\nHG302 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.","Conditions":"Duchenne Muscular Dystrophin (DMD)","Phases":["EARLY_PHASE1"],"Enrollment Count":4,"Primary Outcome Measure":[{"measure": "Incidence and severity of systemic adverse events", "description": "Number of adverse events (AEs), serious adverse events (SAEs), and dose-limiting toxicities (DLTs)", "timeFrame": "26 weeks"}],"Secondary Outcome Measure":[{"measure": "Change from baseline in percentage of dystrophin positive fiber", "description": "Test percentage of dystrophin positive fiber to detection of dystrophin expression", "timeFrame": "26 weeks"}, {"measure": "Change from baseline in dystrophin fiber intensity", "description": "Test dystrophin fiber intensity to detection of dystrophin expression", "timeFrame": "26 weeks"}, {"measure": "Change from baseline in North Star Ambulatory Assessment scale", "description": "North Star Ambulatory Assessment scale documents motor performance in children, with total score range from 0-34, the higher score means better motor performance", "timeFrame": "26 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":8,"Interventions":[{"type": "GENETIC", "name": "HG302", "description": "Once intravenous injection; The duration of the study is about 32 weeks for each subject, including a 6 weeks screening period, enrollment visit, treatment visit, and 26 weeks follow-up period.", "armGroupLabels": ["HG302"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63],"Exons Eligible":[52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"CRISPR/Cas9 Gene Editing"},{"_id":78,"NCTID":"NCT06244082","Title":"A Phase 2 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","Organization Study ID":null,"Organization Full Name":"Avidity Biosciences, Inc.","Organization Class":"INDUSTRY","Brief Title":"Ph2 Open-label Study of AOC 1044 in Duchenne Muscular Dystrophy Participants With Mutations Amenable to Exon44 Skipping","Status Verified Date":"2025-05-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"AOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria\n\nRollover Participants:\n\n* Satisfactorily completed AOC 1044-CS1 (EXPLORE44) as determined by the Investigator and Sponsor\n* No significant tolerability issues with AOC 1044\n\nDe novo Participants:\n\n* Aged 7 to 27 years, inclusive, at the time of informed consent\n* Clinical diagnosis of DMD or clear onset of DMD symptoms at or before the age of 6 years\n* Confirmation of DMD gene mutation amenable to exon 44 skipping\n* Weight ≥ 23 kg\n* Ambulatory or non-ambulatory\n\n  * Ambulatory participants: LVEF ≥50% and FVC≥50%\n  * Non-ambulatory participants: LVEF ≥45% and FVC≥40%\n* PUL 2.0 entry item A ≥3\n* If on corticosteroids, stable dose for 30 days before screening and throughout the study\n\nKey Exclusion Criteria\n\nRollover Participants:\n\n* 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\n\nDe novo Participants:\n\n* Serum hemoglobin \\&lt; lower limit of normal\n* Uncontrolled hypertension or diabetes\n* Prior treatment with any cell or gene therapy\n* Prior treatment with another exon 44 skipping agent within 6 months prior to informed consent\n* Recently treated with an investigational drug\n* History of multiple drug allergies","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-01-26","Study First Submit QC Date":"2024-02-02","Last Update Submit Date":"2025-05-12","Study First Post Date":"2024-02-06","Last Update Post Date":"2025-05-14","Start Date":"2024-01-22","Primary Completion Date":"2027-04-30","Completion Date":"2027-07-31","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"AOC 1044-CS2 (EXPLORE44-OLE) is an Open-label Study to Evaluate the Long-Term Safety and Tolerability of AOC 1044 Administered Intravenously to DMD Participants with Mutations Amenable to Exon 44 Skipping.","Conditions":"DMD;Duchenne Muscular Dystrophy;Duchenne;Exon 44","Phases":["PHASE2"],"Enrollment Count":39,"Primary Outcome Measure":[{"measure": "Incidence of Treatment Emergent Adverse Events (TEAEs)", "timeFrame": "Through study completion (approximately 2 years)"}],"Secondary Outcome Measure":[{"measure": "Change from baseline in serum creatine kinase concentration at Study Weeks 24, 48, and 102", "timeFrame": "Through study completion (approximately 2 years)"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":27,"Interventions":[{"type": "DRUG", "name": "AOC 1044", "description": "AOC 1044 will be administered via intravenous (IV) infusion", "armGroupLabels": ["AOC 1044 Multiple Dose Levels"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[44],"Exons Eligible":[44],"Exons Non Eligible":[],"Exons to be skipped":[44],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":79,"NCTID":"NCT01385917","Title":"Study of Clinical and Radiological Changes in Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping","Organization Study ID":null,"Organization Full Name":"Genethon","Organization Class":"OTHER","Brief Title":"Observational Study of Patients With Duchenne Muscular Dystrophy Theoretically Treatable With Exon 53 Skipping","Status Verified Date":"2016-03-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"PreU7-53 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of Duchenne muscular dystrophy confirmed by at least genetic testing, theoretically treatable by exon 53 skipping.\n* Age between ≥ 12 and \\<20 years old.\n* Non ambulant patients (i;e; inability to walk more than 10 meters without any of assistance).\n* Patients covered by a national health insurance scheme.\n* Signed informed consent.\n\nExclusion Criteria:\n\n* Patient incapable of sitting upright in a wheelchair for at least one hour.\n* Patients with severe intellectual impairment preventing them from fully understanding the exercises to be performed.\n* 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.\n* Known immune deficiency.\n* Contraindications to NMR exams","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2011-06-29","Study First Submit QC Date":"2011-06-29","Last Update Submit Date":"2016-04-11","Study First Post Date":"2011-06-30","Last Update Post Date":"2016-04-12","Start Date":"2011-10-01","Primary Completion Date":"2018-12-01","Completion Date":"2018-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"PreU7-53 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":45,"Primary Outcome Measure":[{"measure": "PreU7-53 is a natural history study", "description": "The 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.", "timeFrame": "Every year"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":12,"Maximum Age (Years)":20,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[53],"Exons Eligible":[53],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":80,"NCTID":"NCT06755138","Title":"Research on the Relationship Between Scoliosis, Pain, Quality of Life, and Trunk Muscle Compensation Patterns During Functional Upper Extremity Movements Among Patients with Duchenne Muscular Dystrophy Using Surface Electromyography and Computer Vision Analysis.","Organization Study ID":null,"Organization Full Name":"Seoul National University Hospital","Organization Class":"OTHER","Brief Title":"Research on the Relationship Between Scoliosis, Pain, Quality of Life, and Trunk Muscle Compensation Patterns Among Patients with Duchenne Muscular Dystrophy.","Status Verified Date":"2024-12-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"* Objective:\n\nThe objective of this observational study is to evaluate and quantify trunk muscle compensatory movement patterns in patients with Duchenne Muscular Dystrophy (DMD) using computer vision technology. Additionally, the study seeks to explore the relationship between these compensatory patterns and scoliosis, upper limb function, pain levels, and quality of life during functional upper limb movements.\n\n* Key Research Questions:\n\n  1\\) Can trunk compensatory movement patterns be accurately measured using computer vision analysis? 2) Are these compensatory patterns correlated with scoliosis, upper limb function levels, pain, and quality of life? 3) Do these patterns and their correlations change over time?\n* Methodology:\n\n  1. Participants: Patients diagnosed with Duchenne Muscular Dystrophy will be recruited for this study.\n  2. Assessments:\n* Scoliosis Evaluation:\n\n  1. Cobb angle measurement via X-ray imaging.\n  2. Upper Limb Function Assessment:\n  3. Performance of the Upper Limb Module 2.0 (PUL 2.0).\n  4. Brooke Upper Extremity Functional Classification Score.\n  5. Korean version of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (K-DMDSAT).\n* Pain Measurement:\n\n  1. Korean version of the PainDETECT Questionnaire (KPD-Q).\n  2. Short Form McGill Pain Questionnaire.\n  3. Quality of Life Assessment:\n* Duchenne Muscular Dystrophy Quality of Life Questionnaire (DMD-QoL).\n\n  1. Trunk Compensation Analysis:\n* Surface electromyography (sEMG) to measure muscle activation.\n* Video analysis using computer vision to quantify trunk compensatory movement patterns.\n* The following tasks will be evaluated using the dominant arm for sEMG and video analysis:\n\n  i. Pouring water into a cup. ii. Lifting a cup to drink water. iii. Grooming the front of the hair. iv. Moving small blocks within one minute (Box and Block Test). v. Reaching toward nearby objects in the front, left, and right directions.\n* Front: Directly in front of the participant's line of sight.\n* Left and right: Approximately 45 degrees to the left and right from the participant's front.\n* Nearby objects: A water bottle or cup weighing approximately 250g, placed at arm's length.\n\nvi. Reaching toward distant objects in the front, left, and right directions.\n\n* Distant objects: A water bottle or cup weighing approximately 250g, placed at 1.5 times the participant's arm length.\n* The sEMG attachment sites are as follows:\n\n  i. Muscles for assessing upper limb functional movements:\n  1. Deltoid\n  2. Pectoralis major\n  3. Trapezius\n  4. Biceps brachii ii. Muscles for assessing trunk compensatory actions:\n\n  <!-- -->\n\n  1. Sternocleidomastoid\n  2. Longissimus muscle\n  3. External oblique abdominal muscle","Study Type":"OBSERVATIONAL","Eligibility Criteria":"1. Inclusion Criteria (1) Duchenne Muscular Dystrophy (DMD) Group\n\n   * Individuals with a confirmed genetic diagnosis of Duchenne Muscular Dystrophy.\n   * Aged over 10 years but under 30 years.\n   * Brooke Scale score between 2 and 5.\n   * Shoulder abductor muscle strength below grade 3 on the Manual Muscle Test (MMT).\n\n     (2) Healthy Control Group\n   * Individuals with no history or current diagnosis of musculoskeletal or neuromuscular disorders.\n   * Aged over 10 years but under 30 years.\n   * Shoulder muscle strength of grade 4+ or higher on the Manual Muscle Test (MMT).\n   * Individuals capable of understanding a detailed explanation of the study procedures and voluntarily providing written informed consent.\n2. Exclusion Criteria (1) Duchenne Muscular Dystrophy (DMD) Group\n\n   * Individuals unable or unwilling to provide informed consent.\n   * Brooke Scale score of 1 or 6.\n   * Severe cognitive impairment preventing the performance of simple tasks. (2) Healthy Control Group\n   * Individuals unable or unwilling to provide informed consent.\n   * Shoulder muscle strength of grade 4 or lower on the Manual Muscle Test (MMT).","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-12-24","Study First Submit QC Date":"2024-12-24","Last Update Submit Date":"2024-12-24","Study First Post Date":"2025-01-01","Last Update Post Date":"2025-01-01","Start Date":"2024-12-24","Primary Completion Date":"2026-07-31","Completion Date":"2026-08-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"* Objective:\n\nThe objective of this observational study is to evaluate and quantify trunk muscle compensatory movement patterns in patients with Duchenne Muscular Dystrophy (DMD) using computer vision technology. Additionally, the study seeks to explore the relationship between these compensatory patterns and scoliosis, upper limb function, pain levels, and quality of life during functional upper limb movements.\n\n* Key Research Questions:\n\n  1\\) Can trunk compensatory movement patterns be accurately measured using computer vision analysis? 2) Are these compensatory patterns correlated with scoliosis, upper limb function levels, pain, and quality of life? 3) Do these patterns and their correlations change over time?\n* Methodology:\n\n  1. Participants: Patients diagnosed with Duchenne Muscular Dystrophy will be recruited for this study.\n  2. Assessments:\n* Scoliosis Evaluation:\n\n  1. Cobb angle measurement via X-ray imaging.\n  2. Upper Limb Function Assessment:\n  3. Performance of the Upper Limb Module 2.0 (PUL 2.0).\n  4. Brooke Upper Extremity Functional Classification Score.\n  5. Korean version of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (K-DMDSAT).\n* Pain Measurement:\n\n  1. Korean version of the PainDETECT Questionnaire (KPD-Q).\n  2. Short Form McGill Pain Questionnaire.\n  3. Quality of Life Assessment:\n* Duchenne Muscular Dystrophy Quality of Life Questionnaire (DMD-QoL).\n\n  1. Trunk Compensation Analysis:\n* Surface electromyography (sEMG) to measure muscle activation.\n* Video analysis using computer vision to quantify trunk compensatory movement patterns.\n* The following tasks will be evaluated using the dominant arm for sEMG and video analysis:\n\n  i. Pouring water into a cup. ii. Lifting a cup to drink water. iii. Grooming the front of the hair. iv. Moving small blocks within one minute (Box and Block Test). v. Reaching toward nearby objects in the front, left, and right directions.\n* Front: Directly in front of the participant's line of sight.\n* Left and right: Approximately 45 degrees to the left and right from the participant's front.\n* Nearby objects: A water bottle or cup weighing approximately 250g, placed at arm's length.\n\nvi. Reaching toward distant objects in the front, left, and right directions.\n\n* Distant objects: A water bottle or cup weighing approximately 250g, placed at 1.5 times the participant's arm length.\n* The sEMG attachment sites are as follows:\n\n  i. Muscles for assessing upper limb functional movements:\n  1. Deltoid\n  2. Pectoralis major\n  3. Trapezius\n  4. Biceps brachii ii. Muscles for assessing trunk compensatory actions:\n\n  <!-- -->\n\n  1. Sternocleidomastoid\n  2. Longissimus muscle\n  3. External oblique abdominal muscle","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Surface Electromyography (sEMG)", "description": "The purpose of using surface electromyography (sEMG) in this study is to measure and analyze the activation levels and patterns of trunk compensatory muscles during the performance of functional upper limb movements. This assessment aims to understand how trunk muscles compensate for upper limb movements, particularly in relation to task performance efficiency.", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Computer Vision-Based Video Analysis", "description": "Videos are recorded simultaneously with surface electromyography (sEMG) while participants perform functional upper limb movements. Recordings are taken from two perspectives: the front view and the dominant arm side view, with synchronized matching of the videos. Video recording is conducted using a video camera mounted on a fixed tripod.\n\nThe recorded videos are analyzed using a convolutional neural network (CNN)-based body part detection model, producing skeleton-based outputs for movement analysis. The relative trunk motion of the participant is extracted as positional coordinates over time, which are further processed to calculate velocity, acceleration, and jerk. These time-series signals are analyzed for smoothness and sample entropy. By matching the movement data with corresponding sEMG signals, biomechanical compensatory parameters are identified and key compensatory features are derived. Comparative analyses with healthy controls are performed to validate these parameters.", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}],"Secondary Outcome Measure":[{"measure": "Brooke Score", "description": "The Brooke Score is a functional assessment tool specifically designed to evaluate upper limb abilities in patients with Duchenne Muscular Dystrophy (DMD). An occupational therapist or physical therapist instructs participants to perform specific movements, and the assessment is based on the participant's ability to successfully complete these tasks.\n\nThe scale ranges from 1 to 6, with lower scores indicating better upper limb function", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Performance of the Upper Limb Module 2.0 (PUL 2.0)", "description": "A functional scale specifically designed to evaluate upper limb abilities in patients with Duchenne Muscular Dystrophy (DMD), assessed by an occupational or physical therapist. It consists of 22 items divided into three levels: shoulder level (6 items, maximum score 12), mid-level (9 items, maximum score 17), and distal level (7 items, maximum score 13), with a total possible score of 44. Each level is scored separately, and participants are instructed to perform specific tasks, with their performance evaluated accordingly.", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Korean version of the Duchenne Muscular Dystrophy Functional Ability Self-Assessment Tool (K-DMDSAT)", "description": "A patient-reported outcome measure designed to evaluate and describe the functional status of individuals with Duchenne Muscular Dystrophy (DMD) across the disease progression. It comprises four domains: arm function, walking, mobility, and respiratory support. Patients are asked to select the most difficult task they can still perform. The tool demonstrates excellent reliability, with inter-rater and test-retest reliability scores (ICC 0.958 and 0.987, respectively). Scoring ranges from 0-8 for arm function and walking, 0-10 for mobility, and 0-2 for respiratory support, with a total maximum score of 28.", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Korean version of the PainDETECT Questionnaire (KPD-Q)", "description": "A tool developed to assess neuropathic pain and is also applicable for evaluating other types of pain. It evaluates four domains: pain intensity, location, pattern, and radiating pain, with a total maximum score of 38. Based on the score, pain can be classified into nociceptive pain, unclear pain, or neuropathic pain categories", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Short Form McGill Pain Questionnaire (SF-MPQ) Korean version", "description": "a self-reported tool designed to assess both the quality and intensity of subjective pain. It includes 11 adjectives describing the sensory aspects of pain and 4 adjectives related to its emotional impact. Participants also rate their current pain intensity on a scale from 0 (no pain) to 5 (worst possible pain) and indicate the overall intensity of their pain on a 10 cm visual analog scale (VAS).", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}, {"measure": "Duchenne Muscular Dystrophy Quality of Life Questionnaire (DMD-QoL)", "description": "Specifically designed to reflect the unique needs and experiences of individuals with Duchenne Muscular Dystrophy (DMD). It comprises 14 items across key domains, including physical health, emotional well-being, social functioning, school and academics, pain and symptom management, and independence and autonomy. Participants respond using a Likert scale to indicate the degree of agreement or frequency for each item. While the questionnaire is intended to be self-reported, caregivers or guardians may complete it on behalf of the patient if age or cognitive function limits independent completion.", "timeFrame": "enrollment, 6 months after, and 12 months after since the enrollment"}],"Healthy Volunteers":true,"Minimum Age (Years)":11,"Maximum Age (Years)":30,"Interventions":[{"type": "OTHER", "name": "Observational Assessment", "description": "This study includes the use of surface electromyography (sEMG), video analysis, and questionnaires to assess trunk compensation patterns and their relationship with scoliosis, functional, quality-of-life, and pain parameters", "armGroupLabels": ["DMD group", "Healthy control group"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":81,"NCTID":"NCT07581743","Title":"Different Forms of Strengthening Exercises and Chemical Markers in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Cairo University","Organization Class":"OTHER","Brief Title":"How Can Different Forms of Strengthening Exercises Affect the Muscular Tissue and Its Chemical Markers in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2026-05-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"The treatment of patients diagnosed with DMD needs to be multidisciplinary, judicious, and always focused on the patient's well-being. Physiotherapy and occupational therapy are very often standard care. Physiotherapy is regarded as crucial for the success of treatment, since it has achieved good results in the short term, such as maintaining the autonomy of these individuals . Physical activity is another method that has been used to treat DMD. Studies have used physical exercise in individuals with DMD in order to decrease muscle deterioration, muscle contractures, and bone fractures, and to increase the time of functional independence","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* DD,\n* aging from 6 To 10\n\nExclusion Criteria:\n\n* able to understand order","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-05-06","Study First Submit QC Date":"2026-05-06","Last Update Submit Date":"2026-05-06","Study First Post Date":"2026-05-12","Last Update Post Date":"2026-05-12","Start Date":"2026-06-01","Primary Completion Date":"2026-08-15","Completion Date":"2026-09-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The treatment of patients diagnosed with DMD needs to be multidisciplinary, judicious, and always focused on the patient's well-being. Physiotherapy and occupational therapy are very often standard care. Physiotherapy is regarded as crucial for the success of treatment, since it has achieved good results in the short term, such as maintaining the autonomy of these individuals . Physical activity is another method that has been used to treat DMD. Studies have used physical exercise in individuals with DMD in order to decrease muscle deterioration, muscle contractures, and bone fractures, and to increase the time of functional independence","Conditions":"Duchene Muscular Dystrophy","Phases":["NA"],"Enrollment Count":45,"Primary Outcome Measure":[{"measure": "Creatine-kinase (CK)", "timeFrame": "8 weeks"}, {"measure": "Six-minute walk test", "timeFrame": "8 weeks"}, {"measure": "Muscle strength", "timeFrame": "8 weeks"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":10,"Interventions":[{"type": "OTHER", "name": "strengthening exercises", "description": "Concentric strengthening exercises: involves the muscle producing tension and shortening to move a load Isometric strengthening exercises: occurs when a muscle produces tension without a change in muscle length. Isometric contractions involve sarcomere shortening and increasing muscle tension, but do not move a load Eccentric strengthening exercises: occurs when the muscle tension produced is less than the load and a muscle lengthens while under tension", "armGroupLabels": ["Strengthening exercises"]}, {"type": "OTHER", "name": "Low-Intensity Exercise Protocol", "description": "The children were trained 3 times per week for 8 weeks on a treadmill without inclination, with speed and time programmed and adapted for this purpose. The length of each training activity was 30 min (Andersen et al. 2013; Markert et al. 2012). The children were acclimated to the treadmill for 7 days before the beginning of the training program, with a speed of 4 m/min, in order to minimize the stress caused by the different environment.", "armGroupLabels": ["Low-Intensity Exercise"]}, {"type": "OTHER", "name": "traditional physical therapy program", "description": "traditional physical therapy program to improve strength", "armGroupLabels": ["Control group"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":82,"NCTID":"NCT02078076","Title":"IRM Cardiaque en Respiration Libre Pour Des Patients Atteints de Dystrophinopathie sévère","Organization Study ID":null,"Organization Full Name":"Institut National de la Santé Et de la Recherche Médicale, France","Organization Class":"OTHER_GOV","Brief Title":"IRM Cardiaque en Respiration Libre Pour Des Patients Atteints de Dystrophinopathie sévère","Status Verified Date":"2016-02-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Clinical, 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Dystophinopathy (Duchenne or severe Becker)\n* \\>8yo\n* with social insurance\n* informed consent\n\nExclusion Criteria:\n\n* arythmia\n* impossibility to undergo an MRI (pacemaker, ....)","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2013-06-03","Study First Submit QC Date":"2014-03-03","Last Update Submit Date":"2025-08-26","Study First Post Date":"2014-03-05","Last Update Post Date":"2025-08-27","Start Date":"2013-06-01","Primary Completion Date":"2015-11-01","Completion Date":"2015-11-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Clinical, 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.","Conditions":"Duchenne or Severe Becker Myopathy","Phases":["NA"],"Enrollment Count":22,"Primary Outcome Measure":[{"measure": "Number of exams correctly acquired (feasabiliy of the exam)", "description": "Was it possible to acquire the whole examination for every patient ?", "timeFrame": "after the last inclusion"}, {"measure": "Number of exams allowing a qualitative assessment of images by the physician", "description": "The image quality allows a qualitative diagnosis ?", "timeFrame": "after the last MRI exam"}, {"measure": "Number of exams allowing a quantitative assessment of the diagnosis", "description": "Did the image quality allow a quantitative assessment of the diagnosis ?", "timeFrame": "after the last MRI examination"}],"Secondary Outcome Measure":[{"measure": "Number of anatomic cardiac segments with significant fibrosis according to the assessment methods (conventional LGE, qualitative detection with GRICS, and quantiative measure with GRICS)", "description": "correlation between fibrosis information (conventional LGE, qualitative detection with GRICS, and quantiative measure with GRICS)", "timeFrame": "after the last inclusion"}, {"measure": "Number of cardiac segments with fibrosis and/or regional dysfunction", "description": "Correlation between fibrosis and regional function for each cardiac segment", "timeFrame": "after the last inclusion"}],"Healthy Volunteers":false,"Minimum Age (Years)":8,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "Magnetic Resonance Cardiac Imaging (with Gadolinium)", "armGroupLabels": ["Magnetic Resonance Cardiac Imaging (with Gadolinium)"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["28971520"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":83,"NCTID":"NCT06711692","Title":"Natural History and Standards of Care in Duchenne Muscular Dystrophy - the U.K. NorthStar Clinical Network.","Organization Study ID":null,"Organization Full Name":"University College, London","Organization Class":"OTHER","Brief Title":"The U.K. NorthStar Clinical Network","Status Verified Date":"2024-11-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.\n\nThe primary objective of the study is to collect longitudinal data on motor and respiratory function in DMD patients from childhood to adulthood.\n\nThe secondary objectives of the study include collection of longitudinal data on other aspects of natural history on DMD, including respiratory, cardiac and endocrine complications, neurodiversity (cognitive impairment, neuro-behavioural disorders such as ADHD and autism), changes to bone density and occurrence of fractures, changes to puberty, incidence of scoliosis, unplanned hospital admissions, and quality of life. The study will also collect information on ethnicity.\n\nParticipants will attend an annual or bi-annual neuromuscular clinic, and will have a series of assessments and questionnaires with the study team. These include: key medical data, physiotherapy data, respiratory assessments, Quality of Life questionnaires, and DMD questionnaires. Following assessments and questionnaire completion, data is input into the study's tailor-made National Neuromuscular Database.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* All patients with genetically confirmed diagnosis of Duchenne Muscular Dystrophy in the United Kingdom. Recruitment will also be possible in cases in whom the DMD diagnosis is made after a muscle biopsy even if the dystrophin gene variant is still being investigated.\n\nExclusion Criteria:\n\n* Involvement in clinical trials is not an exclusion criterion nor having had surgical procedures, as this is an observational research study. The regular clinical data of patients in clinical trials will be acquired as part of the clinical follow up.\n* Patients based outside of the United Kingdom.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-11-08","Study First Submit QC Date":"2024-11-26","Last Update Submit Date":"2024-11-26","Study First Post Date":"2024-12-02","Last Update Post Date":"2024-12-02","Start Date":"2024-12-01","Primary Completion Date":"2025-04-30","Completion Date":"2025-06-30","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.\n\nThe primary objective of the study is to collect longitudinal data on motor and respiratory function in DMD patients from childhood to adulthood.\n\nThe secondary objectives of the study include collection of longitudinal data on other aspects of natural history on DMD, including respiratory, cardiac and endocrine complications, neurodiversity (cognitive impairment, neuro-behavioural disorders such as ADHD and autism), changes to bone density and occurrence of fractures, changes to puberty, incidence of scoliosis, unplanned hospital admissions, and quality of life. The study will also collect information on ethnicity.\n\nParticipants will attend an annual or bi-annual neuromuscular clinic, and will have a series of assessments and questionnaires with the study team. These include: key medical data, physiotherapy data, respiratory assessments, Quality of Life questionnaires, and DMD questionnaires. Following assessments and questionnaire completion, data is input into the study's tailor-made National Neuromuscular Database.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":300,"Primary Outcome Measure":[{"measure": "Longitudinal data on motor function in Duchenne Muscular Dystrophy (DMD) patients from the childhood to the adult phases of life", "description": "Measure: NorthStar Ambulatory Assessment (NSAA). a scale from 0 (unable), 1 (completes independently but with modifications), and 2 (completed without compensation). Total score 0 - 34 with a higher score denoting a higher level of function.", "timeFrame": "From enrolment to the end of the study, across 18 months"}],"Secondary Outcome Measure":[{"measure": "Longitudinal data on quality of life in childhood and adult patients.", "description": "Measure: Duchenne Muscular Dystrophy Quality of Life Measure (DMD-QoL). 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 quality of life \\[QoL\\], comprised of the 3 lower-order factors). Higher scores represent a more positive QoL (overall or within each subscale).", "timeFrame": "From enrolment to the end of the study, across 18 months"}, {"measure": "Longitudinal data on quality of life in childhood and adult patients.", "description": "Measure: The Quality of Life in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD). The QoL-gNMD domain is measured on a T score metric i.e. a normal distribution with a mean of 50 and a standard deviation of 10.\n\nHigh values represent good quality of life.", "timeFrame": "From enrolment to the end of the study, across 18 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":99,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["https://www.musculardystrophyuk.org/research/current-projects/northstar-programme/", "https://www.gosh.nhs.uk/wards-and-departments/departments/clinical-specialties/dubowitz-neuromuscular-centre-dnc-information-parents-and-visitors/dubowitz-neuromuscular-centre/northstar-project/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":84,"NCTID":"NCT07282652","Title":"An Investigator-Initiated Study to Evaluate the Safety/Tolerability, Pharmacokinetics, Pharmacodynamics, and Preliminary Efficacy of RAG-18 in Pediatric Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Peking Union Medical College Hospital","Organization Class":"OTHER","Brief Title":"A Study to Evaluate the Safety and Tolerability of RAG-18 in Pediatric Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2025-12-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"This is an open-label, single-arm, dose-escalation trial to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary efficacy of RAG-18 in pediatric patients with Duchenne Muscular Dystrophy (DMD).\n\nThe study will enroll approximately 12 subjects into four cohorts to assess the safety and tolerability of ascending intravenous doses. Secondary objectives include characterizing the pharmacokinetics (PK)/pharmacodynamics (PD) profile and assessing exploratory efficacy through changes in muscle biomarkers, muscle composition, cardiac/pulmonary function, and motor performance. The decision to escalate to the next dose level will be based on a comprehensive safety evaluation of the preceding cohort.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. In accordance with the International Council for Harmonisation of Technical Requirements for Pharmaceuticals for Human Use - Good Clinical Practice (ICH-GCP) guidelines and local/national and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements, the participant and/or their legal guardian has signed the written informed consent form.\n2. Aged 4-15 years old.\n3. Male patient with Duchenne Muscular Dystrophy (DMD), able to provide a written diagnosis from a specialist and a verifiable genetic test report.\n4. Able to undergo examinations required by the study protocol, such as muscle biopsy, Magnetic Resonance Imaging (MRI), and tests for motor and pulmonary function.\n5. Any disease-related concomitant medications must be in compliance with the study's requirements.\n\nExclusion Criteria:\n\n1. Prior treatment for Duchenne Muscular Dystrophy (DMD), regardless of whether the drug is marketed or not.\n2. Body Mass Index (BMI) \\> 22 kg/m² or body weight ≥ 50 kg.\n3. Unable to complete the motor function tests required by the protocol, including: North Star Ambulatory Assessment (NSAA), Time to Stand (TTSTAND), 4-Stair Climb (4SCV), and the 6-Minute Walk Test (6MWT).\n4. Cardiac function at screening within the following ranges:\n\n   * Left Ventricular Ejection Fraction (LVEF) \\< 55% as measured by Cardiac Magnetic Resonance (CMR).\n   * QT interval corrected using Fridericia's formula (QTcF) \\> 450 ms at screening, or has additional risk factors for Torsades de Pointes.\n5. Hematology and electrolyte parameters at screening within the following ranges:\n\n   * Platelets \\< 100,000/μL.\n   * Hemoglobin \\< 12 g/dL.\n   * Absolute Neutrophil Count \\< 1500/μL.\n   * Any serum calcium, potassium, sodium, magnesium, or phosphorus levels outside the clinically acceptable range for Duchenne Muscular Dystrophy (DMD) patients.\n   * International Normalized Ratio (INR), Prothrombin Time (PT), Partial Thromboplastin Time (PTT), Activated Partial Thromboplastin Time (aPTT), or Fibrinogen outside the normal range.\n6. History of medical conditions affecting liver function, with abnormal indicators within 28 days prior to the first dose.\n7. Presence of severe cardiac, renal, or respiratory dysfunction, or other severe complications.\n8. Allergy to the study drug or any of its components, or to Magnetic Resonance Imaging (MRI) contrast agents.\n9. Receipt of a live (attenuated) vaccine within 28 days prior to the first dose of the study drug.\n10. Use of any other investigational drug, whether for DMD or not, from 28 days prior to the first dose of the study drug until the end of the study.\n11. Any reason that, in the investigator's opinion, would prevent the participant from fully participating in and completing the study, including inability to comply with study procedures or treatment, and other relevant medical or mental health conditions.\n12. Presence of a severe concomitant condition or disease that, in the investigator's opinion, would place the participant at undue risk or interfere with the study, including but not limited to: known moderate or severe persistent asthma, a history of asthma in the past 2 years, or currently uncontrolled asthma of any classification (Note: participants with currently controlled intermittent asthma or controlled mild persistent asthma are permitted to enroll); requirement for oxygen therapy to maintain adequate blood oxygen saturation; history of Chronic Obstructive Pulmonary Disease (COPD) within 6 months prior to signing the Informed Consent Form (ICF).\n13. Participant has an unstable systemic disease as judged by the investigator, including but not limited to severe hepatic, renal, respiratory, or metabolic diseases requiring medication.\n14. Any other unspecified reason that, in the investigator's opinion, makes the participant unsuitable for enrollment.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2025-11-17","Study First Submit QC Date":"2025-12-01","Last Update Submit Date":"2026-01-14","Study First Post Date":"2025-12-15","Last Update Post Date":"2026-01-16","Start Date":"2025-12-12","Primary Completion Date":"2026-11-01","Completion Date":"2026-11-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This is an open-label, single-arm, dose-escalation trial to evaluate the safety, tolerability, pharmacokinetics (PK), pharmacodynamics (PD), and preliminary efficacy of RAG-18 in pediatric patients with Duchenne Muscular Dystrophy (DMD).\n\nThe study will enroll approximately 12 subjects into four cohorts to assess the safety and tolerability of ascending intravenous doses. Secondary objectives include characterizing the pharmacokinetics (PK)/pharmacodynamics (PD) profile and assessing exploratory efficacy through changes in muscle biomarkers, muscle composition, cardiac/pulmonary function, and motor performance. The decision to escalate to the next dose level will be based on a comprehensive safety evaluation of the preceding cohort.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["EARLY_PHASE1"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Incidence and Severity of Adverse Events (AEs) and Serious Adverse Events (SAEs)", "description": "To evaluate the safety profile of RAG-18 by recording the frequency, nature, and severity of all adverse events and serious adverse events observed during the study. The relationship of these events to the study drug will be assessed.", "timeFrame": "From Baseline up to the end of the study (Day 169)"}],"Secondary Outcome Measure":[{"measure": "Maximum Observed Plasma Concentration (Cmax) of RAG-18", "description": "To evaluate the pharmacokinetic profile of RAG-18 after intravenous infusion.", "timeFrame": "Day 1 and Day 85 (assessed at pre-dose, and multiple timepoints up to 168 hours post-dose)"}, {"measure": "Time to Maximum Observed Plasma Concentration (Tmax) of RAG-18", "description": "To determine the time to reach the maximum observed plasma concentration of RAG-18.", "timeFrame": "Day 1 and Day 85 (PK samples collected at pre-dose and multiple timepoints up to 168 hours post-dose)"}, {"measure": "Area Under the Plasma Concentration-Time Curve (AUC) of RAG-18", "description": "To determine the total drug exposure over time by calculating the Area Under the Plasma Concentration-Time Curve (AUC).", "timeFrame": "Day 1 and Day 85 (PK samples collected at pre-dose and multiple timepoints up to 168 hours post-dose)"}, {"measure": "Terminal Half-Life (t1/2) of RAG-18", "description": "To determine the terminal elimination half-life of RAG-18 in plasma.", "timeFrame": "Day 1 and Day 85 (PK samples collected at pre-dose and multiple timepoints up to 168 hours post-dose)"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":15,"Interventions":[{"type": "DRUG", "name": "RAG-18", "description": "RAG-18 is a therapeutic small activating RNA (saRNA) duplex molecule comprised of two partially chemically modified complementary oligonucleotide strands", "armGroupLabels": ["RAG-18"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[51],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":85,"NCTID":"NCT05982119","Title":"Gait Analysis Parameter, Stair Climbing and Upper Limb Evaluation in Patients With Muscular Pathology and in Control Subjects: The ActiLiège Next Study","Organization Study ID":null,"Organization Full Name":"Centre Hospitalier Universitaire de Liege","Organization Class":"OTHER","Brief Title":"Assessments in Patients With Muscular Pathology and in Control Subjects : The ActiLiège Next Study","Status Verified Date":"2025-05-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion criteria\n\n* For the patients:\n\n  * Genetically confirmed diagnosis of DMD, FSHD, DM1, CMT or FKRP mutations or confirmed CNM based on muscle biopsy.\n  * FSHD, DM1, CMT and CNM patients should be ambulant or in transition.\n  * DM1 and CMT patients should present sensori-motor signs on physical examination.\n  * 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.\n  * More than 2 years old for patients with FKRP mutations\n  * Non-ambulant DMD patients must be able to remain seated in an arm- or a wheelchair for at least one hour.\n  * Patients with DMD treated with corticosteroids for at least 6 months or initiated corticosteroid at V0 (except for patients under 4).\n  * Signed informed consent form by patient himself or, in case of minor patients, signed informed consent form by patient's parents or legal guardians.\n* For the control subjects:\n\n  * Ambulant boys and girls under 20 years old\n  * 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.\n\nExclusion Criteria:\n\n* For the patients:\n\n  * Patients with extreme cognitive disorders that limit their understanding of the exercises to be performed.\n  * 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).\n  * A concomitant chronic or acute neurological, endocrine, infectious, allergic, or inflammatory pathology within the 3-week period immediately prior to inclusion.\n  * Patients who are participating in an interventional clinical trial.\n  * DMD patients in transition who are not on corticosteroids.\n* For the control subjects:\n\n  * Patients who have undergone a surgical procedure or who have experienced recent trauma (within fewer than 6 months) affecting the upper or lower limbs.\n  * Elite athletes (at the national level).\n  * A chronic or acute muscular, neurological, infectious, or inflammatory pathology within the 3-week period immediately prior to inclusion.\n  * An orthopedic, neuromuscular, or neurological pathology that affects the quality of the subject's walking gait.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2021-07-20","Study First Submit QC Date":"2023-08-01","Last Update Submit Date":"2025-05-15","Study First Post Date":"2023-08-08","Last Update Post Date":"2025-05-20","Start Date":"2020-07-10","Primary Completion Date":"2026-03-01","Completion Date":"2026-03-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy;Fascioscapulohumeral Muscular Dystrophy;Myotonic Dystrophy 1;Charcot-Marie-Tooth;Centronuclear Myopathy;Congenital Muscular Dystrophy","Phases":["NA"],"Enrollment Count":300,"Primary Outcome Measure":[{"measure": "Stride velocity", "description": "Stride velocity obtained with a magneto-inertial sensor (Actimyo\u00b0) in real-life (meter per second).", "timeFrame": "through study completion (3 year)"}, {"measure": "Stride length", "description": "Stride length obtained with a magneto-inertial sensor (Actimyo\u00b0) in real-life (meter).", "timeFrame": "through study completion (3 year)"}, {"measure": "Stairs number", "description": "Total number of strides in stairs obtained with a magneto-inertial sensor (Actimyo\u00b0) in real-life", "timeFrame": "through study completion (3 year)"}, {"measure": "Stairs speed", "description": "Vertical speed during strides in stairs obtained with a magneto-inertial sensor (Actimyo\u00b0) in real-life", "timeFrame": "through study completion (3 year)"}, {"measure": "Stairs height", "description": "Height of the strides in stairs obtained with a magneto-inertial sensor (Actimyo\u00b0) in real-life", "timeFrame": "through study completion (3 year)"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":1,"Maximum Age (Years)":80,"Interventions":[{"type": "DEVICE", "name": "ActiMyo/Syde", "description": "The two \"watches\" can be worn as wristwatch or placed near the ankle and on the wheelchair.\n\n* Patients with DMD or FKRP mutation will wear the ActiMyo\u00b0/Syde\u00b0 during 3 months at baseline and then for one month every 3 months.\n* Patient with FSHD, DM1, CMT, CNM will wear the ActiMyo\u00b0/Syde\u00b0 will wear the ActiMyo/Syde\u00b0 during 3 months at baseline and then for one month every 6 months.\n* Control subjects \\>4years will wear the ActiMyo\u00b0/Syde\u00b0 during one month after inclusion and during one other month 11 months after inclusion.\n* Control subjects \\<4years will wear the ActiMyo\u00b0/Syde\u00b0 during one month after inclusion and during one other month every 6months after inclusion.", "armGroupLabels": ["Patients with DMD/FSHD/CMT/DM1/CNM/FKRPmutation or control subjects"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":86,"NCTID":"NCT07542314","Title":"Phase 4 Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Patients With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting (ENHANCE)","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Study to Evaluate the Safety and Effectiveness of ELEVIDYS in Participants With Duchenne Muscular Dystrophy Treated in a Post-Marketing Setting","Status Verified Date":"2026-05-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"The primary objective of this study is to evaluate acute liver injury (ALI) rates associated with ELEVIDYS with the addition of sirolimus as an adjunct prophylactic immunosuppression agent.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria:\n\n1. Cohort 1 only: Is male at birth, ambulatory, and ≥ 4 years of age at the time of dosing.\n2. Cohort 1 only: Is eligible for commercial ELEVIDYS.\n3. Cohort 2 only: Is male at birth and has previously received ELEVIDYS in a commercial setting after pre-treatment with sirolimus and corticosteroids.\n4. Cohort 1 only: Participants who are sexually active must agree to use, for the entire duration of the study, a condom and the female sexual partner must also use a medically acceptable form of birth control (eg, oral contraceptive).\n5. Has (a) parent(s) or legal guardian(s) who is (are) able to understand and comply with the study visit schedule and all other protocol requirements, or is ≥ 18 years of age and personally able to understand and comply with the protocol requirements.\n6. Either has a parent or legal guardian who is willing to provide informed consent, or is ≥ 18 years of age and able to provide informed consent independently.\n\nKey Exclusion Criteria:\n\n1. Cohort 1 only: Contraindicated to receive ELEVIDYS per the United States Package Insert (USPI).\n2. Cohort 1 only: Has serological evidence of current, chronic, or active human immunodeficiency virus, hepatitis C, or hepatitis B infection.\n3. Has a medical condition or confounding circumstances (eg, prior traumatic limitation for mobility or significant behavioral comorbidity) that, in the opinion of the Investigator, might compromise:\n\n   1. The participant's ability to comply with the protocol-required procedures, and/or\n   2. The participant's well-being or safety, and/or\n   3. The clinical interpretability of the data collected from the participant\n4. Cohort 1 only: Has a symptomatic infection (eg, upper respiratory tract infection, pneumonia, pyelonephritis, meningitis) within 4 weeks prior to Day 1.\n5. Cohort 1 only: Has received a live virus vaccine within 4 weeks or inactive vaccine within 2 weeks of the Day 1 visit or expects to receive a vaccination during the first 3 months after Day 1.\n6. Cohort 1 only: Any confounding factors that would prevent the use of oral sirolimus including a known hypersensitivity to sirolimus or any of its excipients.\n7. Cohort 1 only: Any wounds or recent injuries that, in the opinion of the Investigator, would be at risk of dehiscence or impaired healing in the setting of sirolimus administration.\n\nOther inclusion/exclusion criteria may apply, per protocol.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-04-02","Study First Submit QC Date":"2026-04-14","Last Update Submit Date":"2026-05-22","Study First Post Date":"2026-04-21","Last Update Post Date":"2026-05-26","Start Date":"2026-07-31","Primary Completion Date":"2027-03-31","Completion Date":"2027-03-31","Oversight Has DMC":"false","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The primary objective of this study is to evaluate acute liver injury (ALI) rates associated with ELEVIDYS with the addition of sirolimus as an adjunct prophylactic immunosuppression agent.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE4"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Cohort 1: Number of Participants with ALI", "timeFrame": "12 weeks"}],"Secondary Outcome Measure":[{"measure": "Cohort 1: Number of Participants with Treatment-emergent Adverse Events (TEAEs), Adverse Events of Special Interest (AESIs) and Serious Adverse Events (SAEs)", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Number of Participants with Infections, Edema, Wound-healing Complications, Hyperlipidemia, Angioedema, and Interstitial Lung Disease/Non-infectious Pneumonitis", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Number of Participants with Hepatic Adverse Events, Hepatic Biomarkers, and Laboratory Assessments Indicative of Either Acute Hepatocellular Injury or Acute Liver Dysfunction", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Number of Participants with Severe ALI", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Number of Participants with ALI", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Duration of ALI", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Amount of Steroid Use", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Duration of Steroid Use", "timeFrame": "Day 1 up to Week 24"}, {"measure": "Cohort 1: Quantity of ELEVIDYS Dystrophin Protein Expression as Measured by Western Blot", "timeFrame": "Week 12"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "ELEVIDYS", "description": "Administered via an intravenous infusion.", "armGroupLabels": ["Cohort 1: ELEVIDYS"], "otherNames": ["Delandistrogene moxeparvovec-rokl", "SRP-9001"]}, {"type": "DRUG", "name": "Sirolimus", "description": "Administered orally.", "armGroupLabels": ["Cohort 1: ELEVIDYS"]}, {"type": "DRUG", "name": "Glucocorticoids", "description": "Administered orally.", "armGroupLabels": ["Cohort 1: ELEVIDYS"]}, {"type": "DRUG", "name": "Antibiotics", "description": "Administered orally.", "armGroupLabels": ["Cohort 1: ELEVIDYS"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Gene Replacement Therapy"},{"_id":87,"NCTID":"NCT06756633","Title":"Evaluation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases","Organization Study ID":null,"Organization Full Name":"Lokman Hekim University","Organization Class":"OTHER_GOV","Brief Title":"Respiratory Functions, Thoracoabdominal Movements and Exercise Capacity in Neuromuscular Diseases","Status Verified Date":"2024-12-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The clinical trial titled \"Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases\" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise capacity in children with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) compared to healthy controls. The study will use spirometry, structured light plethysmography (SLP), the six-minute walk test, and the six-minute pegboard ring test to assess these functions. This trial will be conducted at the Lokman Hekim University Muscle and Nerve Diseases Application and Research Center from May 2024 to Dec 2025.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"1. Duchenne Muscular Dystrophy (DMD)\n\n   -Inclusion Criteria: Clinically diagnosed with Duchenne Muscular Dystrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.\n2. Spinal Muscular Atrophy (SMA)\n\n   -Inclusion Criteria: Clinically diagnosed with Spinal Muscular Atrophy. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n   -Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.\n3. Healthy Controls\n\n   * Inclusion Criteria:\n\nNo diagnosis of neuromuscular diseases. Age above 5 years. Able to breathe independently. Willing to participate in the study.\n\n-Exclusion Criteria: Presence of cognitive problems that affect the assessment results. History of pulmonary surgery. Advanced heart failure.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-05-28","Study First Submit QC Date":"2024-12-25","Last Update Submit Date":"2024-12-25","Study First Post Date":"2025-01-03","Last Update Post Date":"2025-01-03","Start Date":"2024-04-01","Primary Completion Date":"2025-12-01","Completion Date":"2025-12-28","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The clinical trial titled \"Investigation of Respiratory Functions, Thoracoabdominal Movements, and Exercise Capacity in Neuromuscular Diseases\" aims to evaluate the respiratory functions, thoracoabdominal movements, and exercise capacity in children with Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) compared to healthy controls. The study will use spirometry, structured light plethysmography (SLP), the six-minute walk test, and the six-minute pegboard ring test to assess these functions. This trial will be conducted at the Lokman Hekim University Muscle and Nerve Diseases Application and Research Center from May 2024 to Dec 2025.","Conditions":"Neuromuscular Diseases in Children;Respiratory Function Impaired;Respiratory Insufficiency;Duchenne Muscular Dystrophy;Spinal Muscular Atrophy;Plethysmography","Phases":null,"Enrollment Count":42,"Primary Outcome Measure":[{"measure": "Forced Vital Capacity (FVC)", "description": "Forced Vital Capacity (FVC) measures the maximum volume of air that a participant can exhale forcefully after taking a deep breath. This measure reflects lung capacity.", "timeFrame": "Baseline (Day 1)"}, {"measure": "Forced Expiratory Volume in 1 Second (FEV1)", "description": "Forced Expiratory Volume in 1 second (FEV1) represents the volume of air that can be forcefully exhaled in one second. This measure evaluates airway function and obstruction.", "timeFrame": "Baseline (Day 1)"}, {"measure": "Peak Expiratory Flow (PEF)", "description": "Peak Expiratory Flow (PEF) assesses the maximum speed of air expelled during expiration, indicating airway resistance.", "timeFrame": "Baseline (Day 1)"}, {"measure": "FEV1/FVC Ratio", "description": "The ratio of FEV1 to FVC, expressed as a percentage, evaluates airflow limitation severity.", "timeFrame": "Baseline (Day 1)"}, {"measure": "6-Minute Walk Test (6MWT)", "description": "The 6-Minute Walk Test (6MWT) assesses lower-limb functional capacity by measuring the total distance a participant can walk in six minutes at their own pace on a flat, 20-meter corridor. The test evaluates endurance and physical capacity. Heart rate, blood pressure, and oxygen saturation will be measured immediately before and after the test to assess physiological responses.", "timeFrame": "Baseline (Day 1)"}, {"measure": "Thoracoabdominal movement", "description": "Detection of thoracoabdominal asyncrony and analysis of the kinematics of breathing", "timeFrame": "8 min"}, {"measure": "Hand Grip Strength", "description": "Digital hand dynamometer", "timeFrame": "5 min"}, {"measure": "6-Minute Peg Board Ring Test (6PBRT)", "description": "The 6-Minute Peg Board Ring Test (6PBRT) evaluates upper-limb endurance and strength. Participants will move rings between pegs on a pegboard for six minutes, with the total number of rings successfully placed recorded as the outcome. This test is designed to assess upper-limb functional capacity and fatigue.", "timeFrame": "Baseline (Day 1)"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":5,"Maximum Age (Years)":15,"Interventions":[{"type": "OTHER", "name": "Respiratory Function Test", "description": "A spirometer (microQuark, COSMED) will be used to assess respiratory functions. During a forced expiratory maneuver after a deep, full inspiration, airway and lung volumes are measured. During the measurement, a deep inspiration followed by a strong, fast, and continuous expiration until unable to exhale anymore should be performed. The expiration time should be at least 6 seconds, and if necessary, extended up to 15 seconds. More than eight repetitions at one time are not recommended.", "armGroupLabels": ["Duchenne muscular dystrophy", "Healthy controls", "Spinal muscular atrophy"]}, {"type": "OTHER", "name": "Structured light plethysmography", "description": "Participants' thoracoabdominal movements will be assessed using the PneumoCare device that measures with the SLP technique. The evaluation begins with positioning participants wearing a white tank top, t-shirt, or with a bare chest. In our study, measurements will be taken with participants seated, supported by their backs, and their chest area exposed. The participant's age, height, and weight information are entered into the system. After the participant is positioned, the lights of the SLP measuring device are set up 90-100 cm away to encompass the chest area. The light field, which is in a checkerboard pattern, rectangular or square, should align its upper edge with the participant's clavicles and its lower edge with the anterior-superior iliac spine. During this measurement, the participant is asked to look straight ahead and breathe normally for five minutes. At the end of the measurement, the three-dimensional movements of the chest and respiratory parameters are recorded.", "armGroupLabels": ["Duchenne muscular dystrophy", "Healthy controls", "Spinal muscular atrophy"]}, {"type": "OTHER", "name": "6 Minute Walking Test", "description": "For Ambulatory Participants:\n\nExercise capacity will be assessed using the Six-Minute Walk Test (6MWT). The test will be performed according to ATS/ERS guidelines . The test involves walking for six minutes at a submaximal level in a 20-meter corridor. Blood pressure, heart rate, respiratory rate, oxygen saturation, and dyspnea, general fatigue, and leg fatigue according to the Modified BORG Scale (MBS) will be assessed before and after the test. Participants can stop and rest during the test. In such cases, the test duration is paused, and the rest time is recorded, then the test resumes from where it was left off. The distance walked in meters at the end of the test is recorded.", "armGroupLabels": ["Duchenne muscular dystrophy", "Healthy controls", "Spinal muscular atrophy"]}, {"type": "OTHER", "name": "6-Minute Peg Board Ring Test", "description": "For Non-Ambulatory Participants:\n\nThe 6-Minute Pegboard Ring Test will be used to assess upper extremity exercise capacity . Pre- and post-test evaluations of heart rate, blood pressure, respiratory rate, and MBS for dyspnea and fatigue will be made. The board used for the test has a total of 6 holes spaced 10 cm apart horizontally and another set of 6 holes 20 cm below aligned with the top row. There are four 20 cm long iron rods suitable for the holes. A total of 20 rings suitable for the iron rods will be used. The iron rods will be placed in the designated holes according to the patients' shoulder width. An adjustable chair will be used to suit the patients' heights, and the distance between the chair and the board will be adjusted according to arm length. Patients will be asked to place the rings from top to bottom and bottom to top with both hands simultaneously. The total number of rings placed in six minutes will be recorded in units.", "armGroupLabels": ["Duchenne muscular dystrophy", "Healthy controls", "Spinal muscular atrophy"]}, {"type": "OTHER", "name": "Hand Grip Strength", "description": "Hand grip strength will be measured using a digital hand dynamometer (CAMRY Digital Hand Dynamometer) . The device handle will be adjusted according to the participants' hand size. The test is conducted while seated, with the dominant upper extremity in 90 degrees of elbow flexion. Participants are asked to squeeze the dynamometer as strongly as possible. The value displayed on the dynamometer is recorded. The measurement is repeated three times, and the average of the three measurements is taken to determine the participant's hand grip strength. The measurement takes five minutes and does not need to be repeated.", "armGroupLabels": ["Duchenne muscular dystrophy", "Healthy controls", "Spinal muscular atrophy"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":88,"NCTID":"NCT02516085","Title":null,"Organization Study ID":null,"Organization Full Name":"University Hospital, Basel, Switzerland","Organization Class":"OTHER","Brief Title":"Improved Muscle Function in Duchenne Muscular Dystrophy Through L-Arginine and Metformin","Status Verified Date":"2015-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of the study is to show that the intake of L-arginine and metformin improves muscle function and delays disease progression in patients with Duchenne's muscular dystrophy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Molecular diagnosis of DMD\n* Patients 7 - 10 years of age at time of screening\n* Ambulant\n\nExclusion Criteria:\n\n* Previous (3 months or less) or concomitant participation in another therapeutic trial\n* Use of L-arginine, L-citrulline or metformin within the last 3 months\n* Known individual hypersensitivity to L-citrulline or metformin\n* Other chronic disease or clinical relevant limitation of renal, liver, heart function according to discretion of the investigator","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2015-08-03","Study First Submit QC Date":"2015-08-04","Last Update Submit Date":"2015-08-05","Study First Post Date":"2015-08-05","Last Update Post Date":"2015-08-07","Start Date":"2012-01-01","Primary Completion Date":"2012-10-01","Completion Date":"2012-10-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of the study is to show that the intake of L-arginine and metformin improves muscle function and delays disease progression in patients with Duchenne's muscular dystrophy.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":5,"Primary Outcome Measure":[{"measure": "Mean change of muscle metabolism", "description": "mitochondrial protein expression analysis in muscular biopsies", "timeFrame": "baseline to week 16"}],"Secondary Outcome Measure":[{"measure": "In vivo change of muscle metabolism", "description": "indirect calorimetry, Dual-Energy X-Ray Absorptiometry, quantitative thigh muscle MRI, clinical score of muscle performance", "timeFrame": "baseline to week 16"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":10,"Interventions":[{"type": "DRUG", "name": "Metformin", "armGroupLabels": ["L-arginine and metformin"]}, {"type": "DRUG", "name": "L-Arginine", "armGroupLabels": ["L-arginine and metformin"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["26799743"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":89,"NCTID":"NCT02195999","Title":"Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of Florida","Organization Class":"OTHER","Brief Title":"Assessment of Cardiopulmonary Function in Duchenne Muscular Dystrophy","Status Verified Date":"2019-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male\n* 5-15 years old at the time of enrollment\n* Diagnosed with DMD (as defined by parent project)\n* Written parental informed consent (and assent where appropriate) before any study procedures take place\n\nExclusion Criteria:\n\n* Contraindication to an MRI examination\n* 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\n* Participant is unable to comply with study requirements\n* Congenital structural abnormality of the heart, repaired or unrepaired\n* Clinically contraindicated participation","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2014-07-17","Study First Submit QC Date":"2014-07-17","Last Update Submit Date":"2019-07-03","Study First Post Date":"2014-07-21","Last Update Post Date":"2019-07-08","Start Date":"2013-12-01","Primary Completion Date":"2019-03-06","Completion Date":"2019-03-06","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Muscular Dystrophy, Duchenne","Phases":null,"Enrollment Count":9,"Primary Outcome Measure":[{"measure": "Magnetic Resonance (MRI) T2 and Magnetic Resonance Spectroscopy (MRS)", "description": "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.", "timeFrame": "up to 4 years"}],"Secondary Outcome Measure":[{"measure": "Pulmonary Function Testing (PFT)", "description": "Non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.", "timeFrame": "up to 4 years"}, {"measure": "Metabolic Exercise Testing (exercise capacity and MVO2)", "description": "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).", "timeFrame": "up to 4 years"}, {"measure": "Multiple-echo Dixon", "description": "The 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.", "timeFrame": "up to 4 years"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":15,"Interventions":[{"type": "OTHER", "name": "Magnetic Resonance Imaging (MRI)", "description": "It is a non-invasive method to determine ventricular size, volumes, mass, and ejection fraction.", "armGroupLabels": ["Individuals with DMD"]}, {"type": "OTHER", "name": "Pulmonary Function Testing (PFT)", "description": "It is non-invasive breathing tests that characterize respiratory muscle function, as well as lung compliance and physiology.", "armGroupLabels": ["Individuals with DMD"]}, {"type": "OTHER", "name": "Metabolic Exercise Testing using stationary bicycle", "description": "Metabolic exercise testing, including assessment of exercise capacity and MVO2, evaluates global cardiopulmonary functional status. This is performed with the use of a stationary bicycle.", "armGroupLabels": ["Individuals with DMD"]}, {"type": "OTHER", "name": "Echocardiogram", "description": "The echocardiogram performed with the multiple-echo Dixon method helps to assess participants cross-sectionally and longitudinally for variations and changes in myocardial structure.", "armGroupLabels": ["Individuals with DMD"], "otherNames": ["Multiple-echo Dixon"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":90,"NCTID":"NCT01207908","Title":"IGF-1 Therapy and Muscle Function in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Children's Hospital Medical Center, Cincinnati","Organization Class":"OTHER","Brief Title":"Safety and Efficacy Study of IGF-1 in Duchenne Muscular Dystrophy","Status Verified Date":"2020-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this study is to determine whether IGF-1 therapy improves or preserves muscle function in Duchenne Muscular Dystrophy (DMD).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* DMD diagnosed with mutational testing and/or complete absence of dystrophin on muscle biopsy\n* Proximal pelvic girdle weakness (Gower's maneuver, difficulty with arising from floor and going up steps)\n* Male\n* Age \\> 5 years of age\n* Bone maturation (assess by bone age x-ray): \\</= 11 years of age\n* Daily GC (prednisone or deflazacort) therapy for \\> 12 months\n* Ambulatory\n* Informed consent\n* Willingness and ability to comply with all protocol requirements and procedures\n\nExclusion Criteria:\n\n* Current or prior treatment with growth hormone or IGF-1 therapy\n* Non-ambulatory\n* Pubertal (based on clinical Tanner staging examination)\n* Congestive cardiac failure\n* History of intracranial hypertension\n* Daytime ventilatory dependence (non-invasive or tracheostomy)\n* 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\n* Patients enrolled in other clinical drug trials\n* Any physical or mental conditions which may, in the investigators'opinions, render the subject unable to complete the tasks of the study appropriately\n* There will be no selection by ethnicity","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2010-09-22","Study First Submit QC Date":"2010-09-22","Last Update Submit Date":"2020-12-28","Study First Post Date":"2010-09-23","Last Update Post Date":"2021-01-20","Start Date":"2010-11-01","Primary Completion Date":"2012-10-01","Completion Date":"2013-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this study is to determine whether IGF-1 therapy improves or preserves muscle function in Duchenne Muscular Dystrophy (DMD).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":44,"Primary Outcome Measure":[{"measure": "Difference in 6-Minute Walk Distance Between Groups (Control Minus IGF-1) for Change at 6 Months Versus Baseline", "description": "Outcome 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).", "timeFrame": "6 months"}],"Secondary Outcome Measure":[{"measure": "Difference in Height Velocity Between Groups (Control Minus IGF-1) for Change at 6 Months Versus Baseline", "description": "Outcome 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).", "timeFrame": "6 months"}, {"measure": "Difference in North Star Ambulatory Assessment (NSAA) Score Between Groups (Control Minus IGF-1) for Change at 6 Months Versus Baseline", "description": "Outcome 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).\n\nThe 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).\n\nThe range of NSAA score is from 0 to 34. The higher score indicates better motor function.", "timeFrame": "6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "IGF-1", "description": "IGF-1 will be administered once daily by subcutaneous injection every morning with breakfast. Duration 6 months.", "armGroupLabels": ["IGF-1"], "otherNames": ["Increlex (mecasermin [rDNA origin] injection)"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":["http://ghr.nlm.nih.gov/", "http://ghr.nlm.nih.gov/condition/duchenne-and-becker-muscular-dystrophy", "http://www.nlm.nih.gov/medlineplus/musculardystrophy.html", "http://www.nlm.nih.gov/medlineplus/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":91,"NCTID":"NCT07092540","Title":"The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of Rochester","Organization Class":"OTHER","Brief Title":"The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2026-04-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male child between birth and 3.0 years of age at time of enrollment.\n* A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene.\n* Ability of parent/guardian to understand and provide written informed consent (signing Parental Permission and Consent Form).\n* Willingness of parent/guardian to comply with the protocol Schedule of Activities, including all study site visits.\n\nExclusion Criteria:\n\n* Female\n* Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress.\n* Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD.\n* Inability/unwillingness of parent/guardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2025-07-22","Study First Submit QC Date":"2025-07-22","Last Update Submit Date":"2026-04-27","Study First Post Date":"2025-07-30","Last Update Post Date":"2026-05-04","Start Date":"2026-05-30","Primary Completion Date":"2029-08-31","Completion Date":"2029-08-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":105,"Primary Outcome Measure":[{"measure": "Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Gross Motor Standard Score", "description": "The Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4), Gross Motor domain measures age-appropriate motor abilities such as crawling, standing, and walking in children aged 1 to 42 months. The Gross Motor Standard Score is derived by converting raw scores to age-normed standard scores (mean = 100; standard deviation = 15). Higher scores indicate better gross motor development.", "timeFrame": "Baseline to 36 months"}],"Secondary Outcome Measure":[{"measure": "Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Cognitive Standard Score", "description": "The Bayley-4 Cognitive domain measures early cognitive development, including attention, memory, and problem-solving abilities. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores reflect better cognitive performance.", "timeFrame": "Baseline to 36 months"}, {"measure": "Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Fine Motor Standard Score", "description": "The Bayley-4 Fine Motor domain assesses hand and finger coordination tasks such as reaching and grasping. Standard scores range from 40 to 160 (mean = 100; standard deviation = 15). Higher scores indicate better fine motor development.", "timeFrame": "Baseline to 36 months"}, {"measure": "Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Expressive Language Standard Score", "description": "The Bayley-4 Expressive Language Standard Score is derived by converting raw scores to age-normed standard scores based on normative data for children ages 1 to 42 months. Standard scores range from 40 to 160, with a mean of 100 and a standard deviation of 15. Higher scores indicate more advanced expressive language abilities.", "timeFrame": "Baseline to 36 months"}, {"measure": "Mean Change in Bayley Scales of Infant and Toddler Development, Fourth Edition (Bayley-4) Receptive Language Standard Score", "description": "The Bayley-4 Receptive Language domain assesses a child's ability to understand spoken language. Scores range from 40 to 160 (mean = 100; SD = 15). Higher scores reflect better language comprehension.", "timeFrame": "Baseline to 36 months"}, {"measure": "Mean Change in World Health Organization Motor Milestone (WHOMM) Checklist Score", "description": "The WHO Motor Milestone (WHOMM) checklist records developmental attainment of 6 gross motor milestones, scored as achieved or not achieved. The score reflects the number of milestones achieved at each visit. Higher scores indicate greater motor milestone attainment for age.", "timeFrame": "Baseline to 36 months"}, {"measure": "Percentage of Participants Receiving Early Intervention Services", "description": "This outcome measures the proportion of participants who have initiated any early intervention service (e.g., physical, occupational, or speech therapy), based on caregiver report or medical record review.", "timeFrame": "Baseline to 36 months"}, {"measure": "Age at Initiation of Early Intervention Services", "description": "This outcome records the age (in months) at which participants first received early intervention services, based on caregiver report or documentation in the medical record.", "timeFrame": "Baseline to 36 months"}, {"measure": "Percentage of Participants Initiating Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment", "description": "This outcome measures the proportion of participants who began any DMD-targeted pharmacologic treatment (e.g., corticosteroids, exon-skipping therapies) during the study period, based on caregiver report or medical records.", "timeFrame": "Baseline to 36 months"}, {"measure": "Age at Initiation of Duchenne Muscular Dystrophy-Targeted Pharmacologic Treatment", "description": "This outcome records the age (in months) at which each participant initiated pharmacologic treatment for Duchenne Muscular Dystrophy, as reported by caregivers or documented in the medical record.", "timeFrame": "Baseline to 36 months"}, {"measure": "Percentage of Participants With a Neurobehavioral Diagnosis", "description": "This outcome reports the percentage of participants diagnosed with a neurobehavioral condition (e.g., autism spectrum disorder, ADHD) during the study, based on caregiver report or medical record review.", "timeFrame": "Baseline to 36 months"}, {"measure": "Age at First Neurobehavioral Diagnosis", "description": "This outcome records the age (in months) at which each participant received their first neurobehavioral diagnosis, as determined by caregiver report or medical record.", "timeFrame": "Baseline to 36 months"}, {"measure": "Mean Change in Duchenne Muscular Dystrophy Caregiver Reported Health Index Short Form (DMD-HI-SF) Score", "description": "The DMD Caregiver Reported Health Index Short Form (DMD-HI-SF) is a caregiver-reported questionnaire assessing burden related to the child's health. Total score is derived by summing item responses and converting to a standardized T-score. Higher scores indicate greater symptom burden.", "timeFrame": "Baseline to 36 months"}, {"measure": "Baseline North Star Ambulatory Assessment (NSAA) Total Score at Age 3 Years", "description": "The NSAA is a 17-item clinician-rated motor function scale validated for ambulant children with DMD. Each item is scored from 0 (unable) to 2 (normal), for a total score range of 0 to 34. A single NSAA total score will be recorded at the time of the participant's first assessment at age 3 years.", "timeFrame": "Baseline to 36 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":0,"Maximum Age (Years)":3,"Interventions":null,"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":92,"NCTID":"NCT05558813","Title":"Prospective Cardiac Magnetic Resonance Imaging Study in Duchenne Muscular Dystrophy (DMD-CMP)","Organization Study ID":null,"Organization Full Name":"Assistance Publique - Hôpitaux de Paris","Organization Class":"OTHER","Brief Title":"Natural History of Duchenne Muscular Dystrophy Cardiomyopathy (DMD-CMP)","Status Verified Date":"2025-09-01T00:00:00","Overall Status":"WITHDRAWN","Brief Summary":"The 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria :\n\n* Age \\>= 6 years\n* Genetically proven Duchenne muscular dystrophy\n* Affiliation to French medical insurance\n* Informed consent provided\n\nExclusion Criteria :\n\n* Age \\<6 years\n* Left ventricular ejection fraction \\<30%\n* Tracheostomy of hospitalisation for acute respiratory failure \\<1 year\n* Contraindication to MRI: claustrophobia, Gadolinum allergy","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2022-04-15","Study First Submit QC Date":"2022-09-26","Last Update Submit Date":"2025-11-17","Study First Post Date":"2022-09-28","Last Update Post Date":"2025-11-20","Start Date":"2024-11-01","Primary Completion Date":"2029-02-01","Completion Date":"2029-04-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":0,"Primary Outcome Measure":[{"measure": "Late gadolinium enhancement burden on cardiac MRI", "timeFrame": "2 years"}],"Secondary Outcome Measure":[{"measure": "Global T1 on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Global T2 on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Global extracellular volume on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Left ventricular ejection fraction on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Left ventricular systolic circumferentiel strain ejection fraction on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Left ventricular systolic radial strain ejection fraction on cardiac MRI", "timeFrame": "2 years"}, {"measure": "Left ventricular systolic longitudinal strain on cardiac MRI", "timeFrame": "2 years"}, {"measure": "NTproBNP assay in the blood", "timeFrame": "2 years"}, {"measure": "Troponin I assay in the blood", "timeFrame": "2 years"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":null,"Interventions":[{"type": "DIAGNOSTIC_TEST", "name": "Cardiac MRI", "description": "two cardiac MRIs with Gadolinum injection at 2-year intervals", "armGroupLabels": ["DMD-CMP cohort"]}, {"type": "BIOLOGICAL", "name": "Blood assays", "description": "blood samples for the determination of blood biomarkers of heart failure (BNP, NTproBNP) and for the constitution of a biological collection", "armGroupLabels": ["DMD-CMP cohort"], "otherNames": ["Blood biobanking"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":93,"NCTID":"NCT03531788","Title":"Use of Dynamic Arm Support Devices for Upper Limb Function in Non-Ambulatory Men With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"University of Pittsburgh","Organization Class":"OTHER","Brief Title":"Use of Dynamic Arm Supports to Promote Activities of Daily Living in Individuals With DMD","Status Verified Date":"2022-01-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. 14 years of age or older\n2. Self-report diagnosis of Duchenne muscular dystrophy (DMD)\n3. Use a wheelchair for mobility\n4. Score 3-5 on the Brooke Upper Extremity (UE) Scale\n5. 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\n6. Able to follow instructions\n7. Informed consent provided by self (18 and over) or by parent or legal guardian (if under the age of 18)\n\nExclusion Criteria:\n\n1. 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)\n2. The assigned dynamic arm support is unable to be mounted to wheelchair (mounts will vary based on manufacturer/model of wheelchair)","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-04-02","Study First Submit QC Date":"2018-05-08","Last Update Submit Date":"2022-01-27","Study First Post Date":"2018-05-22","Last Update Post Date":"2022-02-18","Start Date":"2018-08-30","Primary Completion Date":"2020-12-31","Completion Date":"2020-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":true,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":18,"Primary Outcome Measure":[{"measure": "Change in Upper Extremity Activity Counts (Movement) Through Actigraphy", "description": "Measured 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.", "timeFrame": "Collection of activity counts through the ActiGraph GT9x occurred during testing phase with and without the upper extremity arm device."}, {"measure": "Change in Upper Extremity Position Through Actigraphy", "description": "Measured 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.", "timeFrame": "Collection of activity counts through the ActiGraph GT9x occurs from baseline through the end of the 4-week device trial."}],"Secondary Outcome Measure":[{"measure": "Goal Attainment Scale (GAS)", "description": "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).", "timeFrame": "The GAS is completed and scored at baseline and at the end of the 4 week trial with and without the device."}],"Healthy Volunteers":false,"Minimum Age (Years)":14,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "Armon Ayura (Kinova)", "description": "Actively assisted mechanical arm support (electric powered to balance arm)", "armGroupLabels": ["Armon Ayura (Kinova)"], "otherNames": ["Kinova"]}, {"type": "DEVICE", "name": "JAECO Wrex", "description": "Passive mechanical arm support (elastic bands to balance arm)", "armGroupLabels": ["JAECO WREX"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":94,"NCTID":"NCT06392724","Title":"A Single-arm, Open-label, Single-center Study to Evaluate the Safety and Tolerability of Intravenous GEN6050X Gene Therapy in Ambulatory Boys With Duchenne Muscular Dystrophy (DMD).","Organization Study ID":null,"Organization Full Name":"Peking Union Medical College Hospital","Organization Class":"OTHER","Brief Title":"A Study to Evaluate the Safety and Tolerability of GEN6050X in Duchenne Muscular Dystrophy.","Status Verified Date":"2024-07-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Subject age: 4-10 years old (including 10 years old)\n2. Gender: Male\n3. 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.\n4. The participant is able to walk independently and completes the 10-meter walk test without assistance.\n5. Participant is able to complete time to stand from supine independently in less than 30s.\n6. The participant is able to cooperate with motor assessment testing.\n7. Receipt of glucocorticoids for 6 months and a stable daily dose for at least 12 weeks prior to study entry\n8. Ability to tolerate muscle biopsies under anesthesia with no contraindications to these procedures.\n\nExclusion Criteria:\n\n1. 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).\n2. 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.\n3. Serological tests found HIV, Hepatitis B Virus(HBV), hepatitis C virus(HCV), and syphilis infection.\n4. Severe infection (e.g., pneumonia, pyelonephritis, or meningitis) within 4 weeks prior to receiving gene therapy.\n5. With clear symptoms of cardiomyopathy, echocardiography shows that the left ventricular ejection fraction is less than 40%.\n6. Need for continuous or intermittent assisted support from a ventilator.\n7. Diagnosed with autoimmune disease or receiving related treatment for autoimmune disease.\n8. The following indicators are abnormal in laboratory biochemical testing:\n\n   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.\n9. The titer of AAV9 neutralizing antibody determined by cell suppression assay \\> 1:50.\n10. 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.\n11. Participant has any contraindication to immunosuppressive therapy.\n12. Has a medical condition or extenuating circumstance that, in the opinion of the principal investigator, is unsuitable for participation in the clinical trial.\n13. The family does not wish to disclose the patient's study participation to the attending physician and other medical providers.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2024-04-26","Study First Submit QC Date":"2024-04-29","Last Update Submit Date":"2025-07-24","Study First Post Date":"2024-04-30","Last Update Post Date":"2025-07-29","Start Date":"2024-07-05","Primary Completion Date":"2025-12-01","Completion Date":"2027-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The study will evaluate the safety and tolerability of GEN6050X gene therapy in Duchenne muscular dystrophy (DMD) patients amenable to exon 50 skipping.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["EARLY_PHASE1"],"Enrollment Count":3,"Primary Outcome Measure":[{"measure": "Safety and tolerability of GEN6050X measured by incidence of adverse events (AEs).", "description": "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.", "timeFrame": "through 1 year post-treatment"}],"Secondary Outcome Measure":[{"measure": "Physical Therapy Assessment North Star Ambulatory Assessment (NSAA\uff09", "description": "The NSAA measures the quality of ambulation in young boys with Duchenne Muscular Dystrophy.", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessment Time to run/walk 10 meters(TTRW)", "description": "Change in Time to Run/Walk 10 Meters Test (TTRW)", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessment 6MWT", "description": "Change in Six-minutes Walk Test (6MWT)", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessments Change in Time to Stand (TTSTAND)", "description": "Change in Time to Stand (TTSTAND)", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessments Ascend and Descend of 4 steps", "description": "Change in Time to Climb 4 Steps Test", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessments Hand-held dynamometer", "description": "The 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.", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessments upper limb function", "description": "Change score in Performance of Upper Limb (PUL) 2.0", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Physical Therapy Assessments Pulmonary function", "description": "Change in pulmonary function test", "timeFrame": "Screening, 6 months-3 Years"}, {"measure": "Dystrophin protein expression", "description": "Dystrophin protein recovery level in muscle biopsy.", "timeFrame": "24 weeks post-treatment"}, {"measure": "Serum creatine kinase(CK)", "description": "Decrease in CK levels in circulating blood", "timeFrame": "through 1 year post-treatment"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":10,"Interventions":[{"type": "GENETIC", "name": "GEN6050X intravenous injection", "description": "GEN6050X is an intravenously administered human DMD exon 50 skipping base editing drug.", "armGroupLabels": ["GEN6050X"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[8, 20, 22, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 57, 59, 60, 67, 69, 75, 78],"Exons Eligible":[50],"Exons Non Eligible":[],"Exons to be skipped":[50],"PubMed IDs":["30293782"],"See Also Links":["https://pubmed.ncbi.nlm.nih.gov/30293782/"],"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":95,"NCTID":"NCT00844597","Title":"Clinical Study to Assess the Safety fo AVI-4658 in Subjects With Duchenne Muscular Dystrophy Due to a Frame-shift Mutation Amenable to Correction by Skipping Exon 51.","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Dose-Ranging Study of AVI-4658 to Induce Dystrophin Expression in Selected Duchenne Muscular Dystrophy (DMD) Patients","Status Verified Date":"2015-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The 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).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Has provided written informed assent (as required by EC) and parents/guardians have provided written informed consent.\n2. Has an out-of-frame deletion(s) that could be corrected by skipping exon 51 based on DNA sequencing data from the candidate.\n3. Is male and between the ages of ≥ 5 years and ≤ 15 years.\n4. Has a muscle biopsy analysis showing \\< 5% revertant fibres present at baseline.\n5. 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.\n6. Intact right and left bicep muscles or alternative arm muscle group.\n7. Is able to walk independently at least 25 meters.\n8. Has a forced vital capacity (FVC) ≥ 50% of predicted and does not require ventilatory support or supplemental oxygen.\n9. Receives the standard of care for DMD as recommended by the DMD care recommendations from the North Star UK and TREAT-NMD.\n10. The parent(s) or legal guardian and Subject have undergone counselling about the expectations of this protocol and agree to participate.\n11. The parent(s) or legal guardian and Subject intend to comply with all study evaluations and return for all study activities.\n\nExclusion Criteria:\n\n1. A DNA polymorphism within exon 51 that may compromise PMO duplex formation.\n2. Known antibodies to dystrophin.\n3. Lacks intact right and left bicep muscles or alternative arm muscle group.\n4. A calculated creatinine clearance less than 70% of predicted normal for age based on the Cockcroft and Gault Formula.\n5. A left ventricular ejection fraction (EF) of \\< 35% and/or fractional shortening of \\<25% based on echocardiography (ECHO)during screening.\n6. A history of respiratory insufficiency as defined by need for intermittent or continuous supplemental oxygen.\n7. A severe cognitive dysfunction rendering the potential subject unable to understand and comply with the study protocol.\n8. Any known immune deficiency or autoimmune disease.\n9. A known bleeding disorder or has received chronic anticoagulant treatment within three months of study entry.\n10. 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).\n11. Surgery within 3 months of study entry or planned for anytime during the duration of the study.\n12. Another clinically significant illness at time of study entry.\n13. 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.\n14. 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.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2008-12-24","Study First Submit QC Date":"2009-02-12","Last Update Submit Date":"2015-09-03","Study First Post Date":"2009-02-16","Last Update Post Date":"2015-10-06","Start Date":"2009-01-01","Primary Completion Date":"2010-06-01","Completion Date":"2010-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The 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).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":19,"Primary Outcome Measure":[{"measure": "Safety and Tolerability", "description": "Number of subjects with 1 or more Treatment Emergent Adverse Event that are possibly related to the investigational drug", "timeFrame": "Baseline to 6 months"}, {"measure": "Treatment Emergent Adverse Events", "description": "Number of Patients with Treatment Emergent Adverse Events", "timeFrame": "from Baseline to Follow up (27 weeks)"}],"Secondary Outcome Measure":[{"measure": "Pharmacokinetics - Mean Peak Plasma Concentration of AVI-4658 After Administration", "description": "Standard Pharmacokinetic parameters estimated using non-compartmental modeling of plasma concentration data.", "timeFrame": "Samples were taken: 30 minutes pre dose; and at 5 (\u00b11), 15 (\u00b12), 30 (\u00b15), 60 (\u00b15), and 90 (\u00b15) minutes; and 2, 4, 6, 8, 12, and 24 hours (all \u00b1 15 minutes) post dose at Weeks 1, 6, and 12"}, {"measure": "Efficacy of Eteplirsen Over 12 Weeks of Dosing", "description": "Efficacy 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.", "timeFrame": "Biopsies were taken at Baseline and Week 14"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":15,"Interventions":[{"type": "DRUG", "name": "AVI-4658 for Injection", "description": "AVI-4658 for Injection, is packaged as 100 mg/mL in phosphate buffered saline with 1 mL per vial. Study dosages will be infused over a 1 hour period with Normal saline in 6 dose cohorts.", "armGroupLabels": ["Cohort 1 - 0.5 mg/kg/wk", "Cohort 2 - 1.0 mg/kg/wk", "Cohort 3 - 2.0 mg/kg/wk", "Cohort 4 - 4.0 mg/kg/wk", "Cohort 5 - 10.0 mg/kg/wk", "Cohort 6 - 20.0 mg/kg/wk"], "otherNames": ["Eteplirsen"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[51],"Exons Eligible":[51],"Exons Non Eligible":[51],"Exons to be skipped":[51],"PubMed IDs":["21784508"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":96,"NCTID":"NCT02835079","Title":"Treatment Effect of Tamoxifen on Patients With DMD","Organization Study ID":null,"Organization Full Name":"Hadassah Medical Organization","Organization Class":"OTHER","Brief Title":"Treatment Effect of Tamoxifen on Patients With DMD","Status Verified Date":"2022-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne 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.\n\nIn 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.\n\nTamoxifen is being tested in this study, as a therapy for DMD, for the following reasons:\n\n(i) it was shown to have anti-fibrotic effect in multiple in-vivo systems; (ii) it assists in the repair of damaged muscles.\n\nIn 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ambulatory\n\nExclusion Criteria:\n\n* Non Ambulatory","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2016-06-22","Study First Submit QC Date":"2016-07-13","Last Update Submit Date":"2022-07-21","Study First Post Date":"2016-07-15","Last Update Post Date":"2022-07-25","Start Date":"2016-11-01","Primary Completion Date":"2020-11-01","Completion Date":"2020-11-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne 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.\n\nIn 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.\n\nTamoxifen is being tested in this study, as a therapy for DMD, for the following reasons:\n\n(i) it was shown to have anti-fibrotic effect in multiple in-vivo systems; (ii) it assists in the repair of damaged muscles.\n\nIn 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":19,"Primary Outcome Measure":[{"measure": "6-minute walk distance (6MWD)", "description": "PT evaluation", "timeFrame": "The 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."}],"Secondary Outcome Measure":[{"measure": "North Star assesment(NSAA)", "description": "PT evaluation", "timeFrame": "The 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."}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":16,"Interventions":[{"type": "DRUG", "name": "Tamoxifen", "armGroupLabels": ["open label study"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":["34304968"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":97,"NCTID":"NCT07475754","Title":"A Single-arm, Non-blind, Single-center Study to Evaluate the Safety and Tolerability of Rituximab Down-regulating Immunoglobulin (Ig) Treatment in Children With Duchenne Muscular Dystrophy (DMD) Who Can Walk","Organization Study ID":null,"Organization Full Name":"Peking Union Medical College Hospital","Organization Class":"OTHER","Brief Title":"A Study to Evaluate the Safety and Tolerability of Rituxan in Duchenne Muscular Dystrophy","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"1. Study population:It is applicable to male participants with genetically confirmed and clinically confirmed Duchenne muscular dystrophy (DMD), aged between 6 and 10 years.\n2. Research period:The main research period of this clinical study is one year. Participants were tested during the baseline period and were followed up on days 0, 7, 14, 21, 60, 120, 200, and 360.\n3. Exploratory indicators：MR Of both thighs, quantitatively calculating the muscle fat replacement indicators of the buttocks and proximal thighs；Patient Self-Rating Scale, Caregiver Self-Rating Scale.\n4. Safety assessment：The safety assessment population will include all participants who have received the drug dose and have at least one post-drug safety assessment. Adverse events (AE) collected from the participants signed informed consent, all the way to the main study period at the end of the last follow-up. Safety laboratory evaluation, laboratory safety monitoring, including hematology, blood biochemistry, urine analysis (including troponin I, CK and CK - MB) and blood coagulation function, as well as complement. All common medication will be recorded. All adverse events, including abnormal complete blood cell count results, will be continuously tracked until they are resolved or stabilized. Only treatment-related adverse events (TEAE) will be summarized. AEs will be based on MedDRA and organ systems are recorded and archived. The classification and terminology related to AEs will be described according to the version of CTCAE v6.0.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Participant age: 6-10 years old (including 10 years old).\n2. Gender: male.\n3. Gene diagnosis of DMD gene type, conform to the DMD phenotypes and clinical manifestations.\n4. There has been a muscle weakness, symptoms of motor function decline.\n5. Patients could walk independently, able to complete 10 meters walk test. Lie on your back up,\n6. patients can complete independently and got up time is less than 30 seconds.\n7. Participants cognitive assessment and mental state can cooperate movement.\n8. Never accept oral hormone therapy or stop using hormone therapy more than six months.\n9. Willing to accept and be able to cooperate with more than one muscle biopsies.\n\nExclusion Criteria:\n\n1. The participants are in active virus infection or other pathogen infection, including but not limited to, the TORCH virus, Epstein - Barr virus, the new crown virus, bacteria, fungi, etc.\n2. Having received a live attenuated vaccine or systemic antiviral, anti-infective and/or interferon therapy within 3 months prior to the treatment with investigational product.\n3. Serological tests revealed infections of HIV, HBV, HCV and syphilis.\n4. Severe infections (such as pneumonia, pyelonephritis or meningitis) occurred within 8 weeks before the start of treatment with investigational product.\n5. There are clear symptoms of cardiomyopathy, and echocardiography shows that the left ventricular ejection fraction is less than 50%.\n6. Continuous or intermittent assistance support from a ventilator is required.\n7. Laboratory biochemical tests the following indices abnormal: gamma GGTP (gamma glutamyl transpeptidase) 2 times higher than upper limit (GGT), total bilirubin is higher than 1.5 times the upper limit of the elf inhibition C (cystatin C) \\> 1.27 mg/L, hemoglobin (Hgb) \\< 100 g/L or \\> 200 g/L; White blood cell (WBC) \\<4×109/L or \\>18.5×109/L or platelet ≤125×109/L.\n8. The patient has received any type of gene therapy (such as AAV gene therapy), cell therapy (such as stem cell transplantation), in vivo editing or in vitro editing reinfusion gene editing therapy (such as CRISPR-Cas9, TALEN), or other experimental drug treatments in the past.\n9. Participants have any taboos on immunosuppressive therapy.\n10. Other comorbid diseases or conditions that the principal investigators considered unsuitable for participation in clinical trials.\n11. The families of the participants do not wish to publicly disclose the patients' research participation to the attending physician and other medical providers.","Sex":"FEMALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2026-03-02","Study First Submit QC Date":"2026-03-12","Last Update Submit Date":"2026-03-12","Study First Post Date":"2026-03-16","Last Update Post Date":"2026-03-16","Start Date":"2026-03-23","Primary Completion Date":"2026-05-30","Completion Date":"2027-04-23","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"1. Study population:It is applicable to male participants with genetically confirmed and clinically confirmed Duchenne muscular dystrophy (DMD), aged between 6 and 10 years.\n2. Research period:The main research period of this clinical study is one year. Participants were tested during the baseline period and were followed up on days 0, 7, 14, 21, 60, 120, 200, and 360.\n3. Exploratory indicators：MR Of both thighs, quantitatively calculating the muscle fat replacement indicators of the buttocks and proximal thighs；Patient Self-Rating Scale, Caregiver Self-Rating Scale.\n4. Safety assessment：The safety assessment population will include all participants who have received the drug dose and have at least one post-drug safety assessment. Adverse events (AE) collected from the participants signed informed consent, all the way to the main study period at the end of the last follow-up. Safety laboratory evaluation, laboratory safety monitoring, including hematology, blood biochemistry, urine analysis (including troponin I, CK and CK - MB) and blood coagulation function, as well as complement. All common medication will be recorded. All adverse events, including abnormal complete blood cell count results, will be continuously tracked until they are resolved or stabilized. Only treatment-related adverse events (TEAE) will be summarized. AEs will be based on MedDRA and organ systems are recorded and archived. The classification and terminology related to AEs will be described according to the version of CTCAE v6.0.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["NA"],"Enrollment Count":5,"Primary Outcome Measure":[{"measure": "The incidence of adverse events (AEs)\uff1b", "description": "The incidence of adverse events (AEs) will be classified according to version 6.0 of the General Terminology Standard for Adverse Events (CTCAE)\uff1b", "timeFrame": "1 year,"}],"Secondary Outcome Measure":[{"measure": "motor function assessment after using IP 200-day and 360-day", "description": "10-meter Run/Walk Time Test (TTRW) measured in meter;", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}, {"measure": "motor function assessment after using IP 200-day and 360-day", "description": "6-minute walk distance test (6MWT) measured in meter;", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}, {"measure": "motor function assessment after using IP 200-day and 360-day", "description": "Time to get up from a supine position measured in second;", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}, {"measure": "motor function assessment after using IP 200-day and 360-day", "description": "Time Test for Climbing Four Flights of Stairs (TTCLIMB) measured in second", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}, {"measure": "motor function assessment after using IP 200-day and 360-day", "description": "Measure muscle strength (elbow extension, elbow flexion, knee extension and knee flexion) with a handheld dynamometer measured in Newton;", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}, {"measure": "motor function assessment after using IP 200-day and 360-day", "description": "Upper limb Function Test (PUL2.0 Scale) measured in Newton;", "timeFrame": "From enrollment to the end of trial at one year\uff1b"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":10,"Interventions":[{"type": "DRUG", "name": "Rituxan treatment", "description": "Rituxan treatment", "armGroupLabels": ["Rituxan treatment in Duchenne Muscular Dystrophy"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":98,"NCTID":"NCT03963453","Title":"To Train -or Not to Train? the Role of Physical Exercise As Part of Management in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Haukeland University Hospital","Organization Class":"OTHER","Brief Title":"Regular Physical Exercise in Duchenne Muscular Dystrophy","Status Verified Date":"2021-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study examine whether an evidence-based individual user-preferred exercise program will increase the physical activity level in boys with Duchenne muscular Dystrophy (DMD).","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Patients with conclusive DMD diagnosis\n* Written consent\n* Able to perform physical exercise and answer questions\n\nExclusion Criteria:\n\n* Lack of consent\n* Cognitive disabled unable to answer questionnaire, understand instructions, and able to know what they participate in.\n* Language difficulties","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-05-09","Study First Submit QC Date":"2019-05-22","Last Update Submit Date":"2025-03-03","Study First Post Date":"2019-05-24","Last Update Post Date":"2025-03-05","Start Date":"2021-02-01","Primary Completion Date":"2022-03-30","Completion Date":"2022-04-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study examine whether an evidence-based individual user-preferred exercise program will increase the physical activity level in boys with Duchenne muscular Dystrophy (DMD).","Conditions":"Muscular Dystrophy, Duchenne","Phases":null,"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Physical Activity Level", "description": "The 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).", "timeFrame": "Change from Baseline Physical Activity level at 12 months."}],"Secondary Outcome Measure":[{"measure": "Physical Activity Questionnaire for children (PAQ-C)", "description": "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:\n\n1. \"Spare time activities\". Score \"no activity\" being a 1, \"7 times or more\" being a 5.\n2. \"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).\n\n9\\. 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).", "timeFrame": "Change from Baseline PAQ-C score at 12 months"}, {"measure": "Physical Activity Diary", "description": "During 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.", "timeFrame": "Day 1 (daily for seven days)"}, {"measure": "Pediatric Quality of Life Inventory (PedsQL version 4). Child Report.", "description": "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.", "timeFrame": "Change from Baseline quality of life at 12 months"}, {"measure": "North Star Ambulatory Assessment", "description": "Standardised 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.", "timeFrame": "Change from Baseline functioning at 12 months"}, {"measure": "\"Egen Klassification 2- scale\" (EK2 scale)", "description": "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 visit", "timeFrame": "Change from Baseline functioning at 12 months"}, {"measure": "Muscular strength- abdominal muscles", "description": "Isometric 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.", "timeFrame": "Change from Baseline muscular strength at 12 months"}, {"measure": "Muscular strength - hand grip", "description": "Isometric 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.", "timeFrame": "Change from Baseline muscular strength at 12 months"}, {"measure": "The 6 minutes assisted bicycling test", "description": "Standardized 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.", "timeFrame": "Change from Baseline physical capacity at 12 months"}, {"measure": "Blood sample - Creatin kinase (CK) value", "description": "Venous blood samples, as biomarker for muscle inflammation or tissue damage, measured by U/L.\n\nAssessment of CK will be performed for safety reasons due to intervention. Blood samples will be performed three mornings during the hospital visits.", "timeFrame": "Day 1, day 3 and day 5."}, {"measure": "Lung function - Forced Vital Capacity (FVC).", "description": "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.", "timeFrame": "Change from Baseline FVC at 12 months"}, {"measure": "Lung function - Forced Expiratory Flow first second (FEV1).", "description": "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.", "timeFrame": "Change from Baseline FEV1 at 12 months"}, {"measure": "Lung function - FEV1/FVC ratio.", "description": "Spirometry assessment. The Ratio is calculated in percent value. All participants will be examined at all three hospital visits during study period.", "timeFrame": "Change from Baseline FEV1/FVC ratio at 12 months."}, {"measure": "Lung function - Peak Expiratory Flow (PEF).", "description": "Spirometry assessment. The maximal airflow achieved during expiration maneuver, measured as liters per second.", "timeFrame": "Change from Baseline PEF at 12 months."}, {"measure": "Lung function - Slow Vital Capacity (SVC).", "description": "The Participant's SVC measured as liters / absolute value will be registered at each hospital visit during study period.", "timeFrame": "Change from Baseline SVC at 12 months"}, {"measure": "Respiratory muscle function - Maximal Inspiratory Pressure (MIP)", "description": "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.", "timeFrame": "Change from Baseline MIP at 12 months"}, {"measure": "Respiratory muscle function - Maximal Expiratory Pressure (MEP)", "description": "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.", "timeFrame": "Change from Baseline MEP at 12 months"}, {"measure": "Lung function - Peak Cough Flow (PCF)", "description": "The Participant's PCF will be measured and recorded as absolute value liters per minutes at each hospital visits during the study period.", "timeFrame": "Change from Baseline PCF at 12 months"}, {"measure": "Body composition - total body fat tissue mass", "description": "Participants 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 period", "timeFrame": "Change from baseline body fat tissue mass at 12 months"}, {"measure": "Body composition - fat tissue mass of the trunk", "description": "Participants 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 period", "timeFrame": "Change from baseline body fat tissue mass at 12 months"}, {"measure": "Body composition - fat tissue mass of the arms", "description": "Participants 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 period", "timeFrame": "Change from baseline body fat tissue mass at 12 months"}, {"measure": "Body composition - fat tissue mass of the legs", "description": "Participants 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 period", "timeFrame": "Change from baseline body fat tissue mass at 12 months"}, {"measure": "Body composition, Participant's lean tissue mass, total body", "description": "Participants 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 period", "timeFrame": "Change from baseline body lean tissue mass at 12 months"}, {"measure": "Body composition, Participant's lean tissue mass of the trunk", "description": "Participants 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 period", "timeFrame": "Change from baseline body lean tissue mass at 12 months"}, {"measure": "Body composition, Participant's lean tissue mass of the arms", "description": "Participants 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 period", "timeFrame": "Change from baseline body lean tissue mass at 12 months"}, {"measure": "Body composition, Participant's lean tissue mass of the legs", "description": "Participants 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 period", "timeFrame": "Change from baseline body lean tissue mass at 12 months"}, {"measure": "Body composition - Bone Mineral Content (BMC), total body", "description": "Participants 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 period", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Body composition - Bone Mineral Content (BMC) of the trunk", "description": "Participants 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 period", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Body composition - Bone Mineral Content (BMC) of the arms", "description": "Participants 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 period", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Body composition - Bone Mineral Content (BMC) of the legs", "description": "Participants 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 period", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Body composition - bone mineral density. Lumbal column", "description": "Participants 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.", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Body composition - bone mineral density. Hip bone", "description": "Participants 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.", "timeFrame": "Change from Baseline bone mineral density at 12 months"}, {"measure": "Anthropometric measure - age", "description": "The participants age measured in years of age will be registered at start and end of study period", "timeFrame": "Day 1"}, {"measure": "Anthropometric measure - body height", "description": "The Participant's height measured in centimeter (cm) will be registered at each hospital visit during study period.", "timeFrame": "Day 1"}, {"measure": "Anthropometric measure - body weight", "description": "The Participant's body weight measured as kilograms will be measured and registered at each hospital visit during study period", "timeFrame": "Day 1"}, {"measure": "Anthropometric measure - Body Mass Index (BMI)", "description": "The Participant's BMI will be calculated by (kg/m2). at each hospital visit during the study period.", "timeFrame": "Day 1"}, {"measure": "Cardiac function - Blood Pressure", "description": "The participants systolic and diastolic blood pressure will be registered (mmHg) at start and end of study period", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular mass", "description": "Participants 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.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) systolic function by ejection fraction", "description": "Participants will undergo Ultrasound of the heart, measuring LV ejection fraction (%) derived from 2D linear LV measurements (Teichholz) at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) systolic function by biplane Simpson", "description": "Participants will undergo Ultrasound of the heart, measuring LV ejection fraction (%) derived from 2D linear LV measurements (Teichholz) at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) systolic function by tissue doppler", "description": "Participants will undergo Ultrasound of the heart, measuring LV systolic tissue Doppler (meter/second) at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) systolic function by speckle tracking", "description": "Participants will undergo Ultrasound of the heart, measuring LV global, longitudinal 2D speckle tracking (%) at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) diastolic function by tissue doppler", "description": "Participants 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.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Echocardiography - Left ventricular (LV) diastolic function by isovolumic relaxation time (IVRT)", "description": "Participants will undergo Ultrasound of the heart, measuring IVRT in milliseconds (ms) at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG), heart rate (HR)", "description": "Participants will undergo ECG, measuring HR beats per minute at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG) - QRS duration", "description": "Participants will undergo ECG, measuring QRS by milliseconds at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG) - PR interval", "description": "Participants will undergo ECG, measuring PR interval by milliseconds at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG) - QT time", "description": "Participants will undergo ECG, measuring PR interval by milliseconds at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG) - QT time corrected", "description": "Participants will undergo ECG, measuring QT time corrected by milliseconds at start and end of study.", "timeFrame": "Day 2"}, {"measure": "Cardiac function. Electro cardiogram (ECG) - QRS axis", "description": "Participants will undergo ECG, measuring QRS axis in grades at start and end of study.", "timeFrame": "Day 2"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "Physical Exercise", "description": "Physical exercise are prescribed to be performed three times per week for a year", "armGroupLabels": ["Interventional"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"},{"_id":99,"NCTID":"NCT03508947","Title":"A Multicenter, Double-blind, Placebo-controlled, Phase 1 Study of WVE-210201 Administered Intravenously to Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Wave Life Sciences USA, Inc.","Organization Class":"INDUSTRY","Brief Title":"Safety and Tolerability of WVE-210201 in Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2019-04-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of Duchenne muscular dystrophy (DMD) based on clinical phenotype with increased serum creatine kinase\n* Documented mutation in the Dystrophin gene associated with DMD that is amenable to exon 51 skipping\n* Ambulatory or non-ambulatory male patients aged ≥5 - ≤18 years\n* Stable pulmonary and cardiac function as measured by:\n\n  1. Reproducible percent predicted forced vital capacity (FVC) ≥50%\n  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.\n\nExclusion Criteria:\n\n* 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.\n* 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.\n* 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.\n* Currently on anticoagulants or antithrombotics.\n* Received treatment with eteplirsen or ataluren within the past 14 weeks.\n* Received prior treatment with drisapersen.\n* Received any investigational drug within the past 3 months or 5 half-lives, whichever is longer.","Sex":"MALE","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2018-04-16","Study First Submit QC Date":"2018-04-24","Last Update Submit Date":"2019-04-05","Study First Post Date":"2018-04-26","Last Update Post Date":"2019-04-08","Start Date":"2018-01-24","Primary Completion Date":"2019-03-06","Completion Date":"2019-03-06","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This 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.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":36,"Primary Outcome Measure":[{"measure": "Safety: Number of patients with adverse events (AEs)", "timeFrame": "Day 1 to Day 85 (end of study)"}, {"measure": "Safety: Severity of AEs", "timeFrame": "Day 1 to Day 85 (end of study)"}, {"measure": "Safety: Number of patients with serious AEs (SAEs)", "timeFrame": "Day 1 to Day 85 (end of study)"}, {"measure": "Safety and Tolerability: Number of patients who withdraw due to AEs", "timeFrame": "Day 1 to Day 85 (end of study)"}],"Secondary Outcome Measure":[{"measure": "Pharmacokinetics (PK): Maximum observed concentration (Cmax)", "timeFrame": "Day 1, Day 2, and Day 8"}, {"measure": "PK: Time of occurrence of Cmax (tmax)", "timeFrame": "Day 1, Day 2, and Day 8"}, {"measure": "PK: Area under the plasma concentration-time curve (AUC 0-t)", "timeFrame": "Day 1, Day 2, and Day 8"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "DRUG", "name": "WVE-210201", "description": "WVE-210201 is a stereopure antisense oligonucleotide (ASO)", "armGroupLabels": ["WVE-210201 (Dose A) or placebo", "WVE-210201 (Dose B) or placebo", "WVE-210201 (Dose C) or placebo", "WVE-210201 (Dose D) or placebo", "WVE-210201 (Dose E) or placebo"]}, {"type": "DRUG", "name": "Placebo", "description": "Sodium Chloride", "armGroupLabels": ["WVE-210201 (Dose A) or placebo", "WVE-210201 (Dose B) or placebo", "WVE-210201 (Dose C) or placebo", "WVE-210201 (Dose D) or placebo", "WVE-210201 (Dose E) or placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":[51],"Exons Eligible":[51],"Exons Non Eligible":[],"Exons to be skipped":[51],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Exon Skipping Therapy"},{"_id":100,"NCTID":"NCT03836300","Title":"Piloting an Early Intervention Program for Infants With Rare Neurogenetic Disorders","Organization Study ID":null,"Organization Full Name":"RTI International","Organization Class":"OTHER","Brief Title":"Parent and Infant Inter(X)Action Intervention (PIXI)","Status Verified Date":"2025-07-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"The 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.\n\nParticipants 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.\n\nThe 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.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* 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).\n* English must be the primary language spoken in the home because all assessment measures and intervention protocol are in English.\n\nExclusion Criteria:\n\n\\- Infants may not be blind or have a severe hearing impairment as the intervention and assessments are not appropriate for these children.","Sex":"ALL","Version Holder":"2026-06-12T00:00:00","Study First Submit Date":"2019-02-07","Study First Submit QC Date":"2019-02-07","Last Update Submit Date":"2025-07-28","Study First Post Date":"2019-02-11","Last Update Post Date":"2025-07-31","Start Date":"2018-11-30","Primary Completion Date":"2026-06-30","Completion Date":"2026-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The 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.\n\nParticipants 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.\n\nThe 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.","Conditions":"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 Syndrome","Phases":["NA"],"Enrollment Count":120,"Primary Outcome Measure":[{"measure": "Social Validity and Acceptability", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately six months of age)"}, {"measure": "Social Validity and Acceptability", "description": "A 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.", "timeFrame": "Completion of Phase 2 (approximately twelve months of age)"}, {"measure": "Fidelity", "description": "Overall intervention fidelity will be measured by determining if the following goals were achieved:\n\nEnrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2", "timeFrame": "Completion of Phase 1 (approximately six months of age)"}, {"measure": "Fidelity", "description": "Overall intervention fidelity will be measured by determining if the following goals were achieved:\n\nEnrollment target of 10-15 families 80% retention rate with at least 75% completing the 20 sessions across Phase 1 and Phase 2", "timeFrame": "Completion of Phase 2 (approximately twelve months of age)"}],"Secondary Outcome Measure":[{"measure": "Parent Implementation and Engagement", "description": "Internal 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.", "timeFrame": "Across phase 1 and phase 2 engagement (approximately ages 6-months through 1-year of age)"}, {"measure": "Early Developmental Outcomes", "description": "Descriptive 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}, {"measure": "Autism Symptoms", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}, {"measure": "Autism Symptoms", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}, {"measure": "Autism Symptoms", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}, {"measure": "Autism Symptoms", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}, {"measure": "Autism Symptoms", "description": "A 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.", "timeFrame": "Completion of Phase 1 (approximately 6-months of age) and completion of follow-up (approximately 36-months of age)"}],"Healthy Volunteers":true,"Minimum Age (Years)":null,"Maximum Age (Years)":99,"Interventions":[{"type": "BEHAVIORAL", "name": "Parent-Infant Inter(X)action Intervention (PIXI)", "description": "Psychoeducation around the diagnosed disorder, early development, and service navigation along with parent-child interaction activities, parent coaching, and family/parent well-being support.", "armGroupLabels": ["Infants with a rare neurogenetic condition and their parent/primary caregiver(s)"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":[],"Exons Eligible":[],"Exons Non Eligible":[],"Exons to be skipped":[],"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null,"Treatment Type":"Other"}], "fields": [{"id": "_id", "type": "int"}, {"id": "NCTID", "type": "text", "info": {"label": "NCTID", "notes": "Clinical Trial unique identifier"}}, {"id": "Title", "type": "text", "info": {"label": "Title", "notes": "The title of the clinical study, corresponding to the title of the protocol."}}, {"id": "Organization Study ID", "type": "text", "info": {"label": "Organization Study ID", "notes": "A unique identifier assigned to the protocol by the sponsor."}}, {"id": "Organization Full Name", "type": "text", "info": {"label": "Organization Full Name", "notes": "Full name of the official's organization."}}, {"id": "Organization Class", "type": "text"}, {"id": "Brief Title", "type": "text", "info": {"label": "Brief Title", "notes": "A short title of the clinical study."}}, {"id": "Status Verified Date", "type": "timestamp"}, {"id": "Overall Status", "type": "text", "info": {"label": "Overall Status", "notes": "The recruitment status for the clinical study as a whole, based upon the status of the individual sites. If at least one facility in a multi-site clinical study has an Individual Site Status of \"Recruiting,\" then the Overall Recruitment Status for the study must be \"Recruiting.\". Not yet recruiting: Participants are not yet being recruited. Recruiting: Participants are currently being recruited, whether or not any participants have yet been enrolled. Enrolling by invitation: Participants are being (or will be) selected from a predetermined population. Active, not recruiting: Study is continuing, meaning participants are receiving an intervention or being examined, but new participants are not currently being recruited or enrolled. Completed: The study has concluded normally; participants are no longer receiving an intervention or being examined (that is, last participant\u2019s last visit has occurred). Suspended: Study halted prematurely but potentially will resume. Terminated: Study halted prematurely and will not resume; participants are no longer being examined or receiving intervention. Withdrawn: Study halted prematurely, prior to enrollment of first participant."}}, {"id": "Brief Summary", "type": "text", "info": {"label": "Brief Summary", "notes": "A short description of the clinical study, including a brief statement of the clinical study's hypothesis, written in language intended for the lay public."}}, {"id": "Study Type", "type": "text", "info": {"label": "Study Type", "notes": "The nature of the investigation or investigational use for which clinical study information is being submitted. Select one."}}, {"id": "Eligibility Criteria", "type": "text", "info": {"label": "Eligibility Criteria", "notes": "A limited list of criteria for selection of participants in the clinical study, provided in terms of inclusion and exclusion criteria and suitable for assisting potential participants in identifying clinical studies of interest."}}, {"id": "Sex", "type": "text", "info": {"label": "Sex", "notes": "The sex of the participants eligible to participate in the clinical study."}}, {"id": "Version Holder", "type": "timestamp"}, {"id": "Study First Submit Date", "type": "text"}, {"id": "Study First Submit QC Date", "type": "text"}, {"id": "Last Update Submit Date", "type": "text"}, {"id": "Study First Post Date", "type": "text"}, {"id": "Last Update Post Date", "type": "text"}, {"id": "Start Date", "type": "text", "info": {"label": "Start Date", "notes": "The estimated date on which the clinical study will be open for recruitment of participants, or the actual date on which the first participant was enrolled."}}, {"id": "Primary Completion Date", "type": "text", "info": {"label": "Primary Completion Date", "notes": "The date that the final participant was examined or received an intervention for the purposes of final collection of data for the primary outcome, whether the clinical study concluded according to the pre-specified protocol or was terminated. In the case of clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all of the primary outcomes."}}, {"id": "Completion Date", "type": "text", "info": {"label": "Completion Date", "notes": "The date the final participant was examined or received an intervention for purposes of final collection of data for the primary and secondary outcome measures and adverse events (for example, last participant\u2019s last visit), whether the clinical study concluded according to the pre-specified protocol or was terminated."}}, {"id": "Oversight Has DMC", "type": "text"}, {"id": "Is FDA Regulated Drug", "type": "bool", "info": {"label": "Is FDA Regulated Drug", "notes": "Indication that a clinical study is studying a drug product (including a biological product) subject to section 505 of the Federal Food, Drug, and Cosmetic Act or to section 351 of the Public Health Service Act."}}, {"id": "Is FDA Regulated Device", "type": "bool", "info": {"label": "Is FDA Regulated Device", "notes": "Indication that a clinical study is studying a device product subject to section 510(k), 515, or 520(m) of the Federal Food, Drug, and Cosmetic Act."}}, {"id": "Detailed Description", "type": "text", "info": {"label": "Detailed Description", "notes": "Extended description of the protocol, including more technical information (as compared to the Brief Summary). Does not include the entire protocol. Does not duplicate information recorded in other data elements, such as Eligibility Criteria or outcome measures."}}, {"id": "Conditions", "type": "text", "info": {"label": "Conditions", "notes": "The name(s) of the disease(s) or condition(s) studied in the clinical study, or the focus of the clinical study."}}, {"id": "Phases", "type": "json", "info": {"label": "Phases", "notes": "For a clinical trial of a drug product (including a biological product), the numerical phase of such clinical trial, consistent with terminology in 21 CFR 312.21 and in 21 CFR 312.85 for phase 4 studies."}}, {"id": "Enrollment Count", "type": "int4"}, {"id": "Primary Outcome Measure", "type": "json", "info": {"label": "Primary Outcome Measure", "notes": "A description of each primary outcome measure (or for observational studies, specific key measurement[s] or observation[s] used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment). \"Primary outcome measure\" means the outcome measure(s) of greatest importance specified in the protocol, usually the one(s) used in the power calculation. Most clinical studies have one primary outcome measure, but a clinical study may have more than one."}}, {"id": "Secondary Outcome Measure", "type": "json", "info": {"label": "Secondary Outcome Measure", "notes": "A description of each secondary outcome measure (or for observational studies, specific secondary measurement[s] or observation[s] used to describe patterns of diseases or traits or associations with exposures, risk factors or treatment). \"Secondary outcome measure\" means an outcome measure that is of lesser importance than a primary outcome measure, but is part of a pre-specified analysis plan for evaluating the effects of the intervention or interventions under investigation in a clinical study and is not specified as an exploratory or other measure. A clinical study may have more than one secondary outcome measure."}}, {"id": "Healthy Volunteers", "type": "bool", "info": {"label": "Healthy Volunteers", "notes": "Indication that participants who do not have a disease or condition, or related conditions or symptoms, under study in the clinical study are permitted to participate in the clinical study."}}, {"id": "Minimum Age (Years)", "type": "int4", "info": {"label": "Minimum Age (Years)", "notes": "The numerical value, if any, for the minimum age a patient must meet to be eligible for the clinical study."}}, {"id": "Maximum Age (Years)", "type": "int4", "info": {"label": "Maximum Age (Years)", "notes": "The numerical value, if any, for the maximum age a potential participant can be to be eligible for the clinical study."}}, {"id": "Interventions", "type": "json"}, {"id": "Mentions Ambulant Participation", "type": "bool"}, {"id": "Mentions Non Ambulant Participation", "type": "bool"}, {"id": "MentionsCorticosteroidUse", "type": "bool"}, {"id": "MentionsLackOfCorticosteroidUse", "type": "bool"}, {"id": "Mentioned Exons", "type": "json"}, {"id": "Exons Eligible", "type": "json"}, {"id": "Exons Non Eligible", "type": "json"}, {"id": "Exons to be skipped", "type": "json"}, {"id": "PubMed IDs", "type": "json", "info": {"label": "PubMed IDs", "notes": "Array of PubMed IDs related to the study"}}, {"id": "See Also Links", "type": "json", "info": {"label": "See Also Links", "notes": "Array of reference URLs for the study"}}, {"id": "On Roche Website", "type": "bool", "info": {"label": "On Roche Website", "notes": "Indicates whether this clinical trial is also listed on Roche's patient website"}}, {"id": "Roche Website URL", "type": "text", "info": {"label": "Roche Website URL", "notes": "URL to the clinical trial page on Roche's patient website, if available"}}, {"id": "Treatment Type", "type": "text", "info": {"label": "Treatment Type", "notes": "Category of therapeutic approach inferred from the trial description and interventions. One of: Gene Replacement Therapy, Exon Skipping Therapy, CRISPR/Cas9 Gene Editing, Nonsense Mutation Suppression (Read-through Therapy), Other."}}], "_links": {"start": "/api/3/action/datastore_search?resource_id=d5215962-0a4f-48f4-a56a-b80c089bc3b6", "next": "/api/3/action/datastore_search?resource_id=d5215962-0a4f-48f4-a56a-b80c089bc3b6&offset=100"}, "total": 505, "total_was_estimated": false}}