{"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": "cb90b5c5-106b-41cc-9ecd-4867424079ad", "total_estimation_threshold": null, "records": [{"_id":1,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["35142618", "31315600"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":2,"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":"2025-06-01T00:00:00","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":"2026-04-03T00:00:00","Study First Submit Date":"2022-01-25","Study First Submit QC Date":"2022-02-15","Last Update Submit Date":"2025-06-06","Study First Post Date":"2022-02-25","Last Update Post Date":"2025-06-08","Start Date":"2022-04-13","Primary Completion Date":"2026-05-01","Completion Date":"2026-05-01","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["37591308"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":3,"NCTID":"NCT02636686","Title":"An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in Subjects With Duchenne Muscular Dystrophy.","Organization Study ID":null,"Organization Full Name":"BioMarin Pharmaceutical","Organization Class":"INDUSTRY","Brief Title":"Extension Study of Drisapersen in DMD Subjects","Status Verified Date":"2018-01-01T00:00:00","Overall Status":"NO_LONGER_AVAILABLE","Brief Summary":"This is a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.","Study Type":"EXPANDED_ACCESS","Eligibility Criteria":"Inclusion Criteria:\n\n1. Any subject who has been previously treated with an exon 51 skipping antisense oligonucleotide (drisapersen or eteplirsen) and is not eligible for another ongoing drisapersen study. Subjects who withdrew from the previous studies due to meeting laboratory safety stopping criteria may be eligible to enroll if:\n2. The laboratory parameters that led to stopping have resolved; benefit of further treatment with drisapersen outweighs the risk to the individual subject; and following consultation with the Medical Monitor.\n3. Subjects with DMD mutation/deletion within the dystrophin gene and correctable by drisapersen-induced DMD exon 51 skipping.\n4. Male subjects age \\>5 at screening in whom the investigator considers treatment with drisapersen is likely to lead to improvement or prevent worsening of the condition.\n5. Continued use of glucocorticoids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on glucocorticoids for the duration of this study. Changes to or cessation of glucocorticoids will be at the discretion of the investigator conducting this study in consultation with the subject/parent and Medical Monitor.\n6. Willing and able to comply with all study requirements and procedures (with the exception of those assessments requiring a subject to be ambulant, for those subjects who have lost ambulation).\n7. Able to give informed assent and/or consent in writing by the subject and/or parent(s)/legal guardian (according to local regulations)\n\nExclusion Criteria:\n\n1. Subjects who have previously been treated with drisapersen and who had a serious adverse experience or who met safety stopping criteria that remains unresolved, which in the opinion of the investigator could have been attributable to drisapersen. Once resolved, subject may be eligible to enter the study following investigator consultation with the Medical Monitor.\n2. Use of anticoagulants, anti-thrombotics or antiplatelet agents within 28 days of the first re-dosing of drisapersen. Chronic use of anticoagulants, anti-thrombotics or antiplatelet agents is prohibited during the study. As needed dosing (pro re nata - PRN) may be acceptable (except for aspirin) following discussion with the Medical Monitor.\n3. Participation in any investigational clinical trial within 3 months prior to start or during this study (except for other drisapersen studies). If subjects have participated in any other study within the last 6 months this should be discussed with the Medical Monitor prior to start of this study.\n4. History of significant medical disorder which may confound the interpretation of safety data (e.g. current or history of renal or liver disease/impairment, history of inflammatory illness)\n5. Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \\<45% at start of this study, the investigator should discuss inclusion of subject in this study with the Medical Monitor.\n6. A platelet count under the lower limit of normal (LLN) at start of this study. A re-test is possible at a later stage, and if within normal range, the subject may enter the study.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2015-12-09","Study First Submit QC Date":"2015-12-17","Last Update Submit Date":"2018-01-19","Study First Post Date":"2015-12-22","Last Update Post Date":"2018-01-24","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 a phase IIIb, multi-centre, open-label extension study in male subjects with DMD who previously have been treated with drisapersen, aiming at assessing the safety and efficacy of drisapersen.","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": "Drisapersen", "description": "Subjects will receive 6 mg/kg of drisapersen by subcutaneous injection once weekly. If subjects have experienced an intolerable injection site reaction(s), in consultation with the investigator, the subject may be allowed intermittent injections (8 weeks on/4 weeks off) or weekly intravenous infusions of 3 or 6 mg/kg", "otherNames": ["PRO051"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":4,"NCTID":"NCT00981266","Title":"Study of the Safety and Effectiveness of the Mentor Spectra/Becker 80 Adjustable Breast Implant in Subjects Who Are Undergoing Primary Augmentation or Augmentation Revision","Organization Study ID":null,"Organization Full Name":"Mentor Worldwide, LLC","Organization Class":"INDUSTRY","Brief Title":"Spectra Breast Implant Study","Status Verified Date":"2013-02-01T00:00:00","Overall Status":"WITHDRAWN","Brief Summary":"The purpose of this study is to demonstrate safety and effectiveness of Mentor's Spectra/Becker 80 Adjustable Breast Implants in women who are undergoing primary or revision breast augmentation. Safety information on the rate of complications, such as infection, will be collected and used to help determine device safety. These implants are investigational devices.\n\nApproximately 450 patients at sites across the United States will be enrolled in this research study by up to 30 sites. These patients will be implanted with Spectra/Becker 80 implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Subject is genetic female and is at least 22-years-old\n* A candidate for primary breast augmentation (general breast enlargement, post-lactational involution, asymmetry) or augmentation revision (previous augmentation with silicone-filled or saline-filled implants)\n* Signs the Informed Consent\n* Agrees to return device to Mentor if explant necessary\n* Agrees to comply with follow-up procedures, including returning for all follow-up visits\n* Patient is a US citizen with a Social Security Number\n\nExclusion Criteria:\n\n* Subject is pregnant\n* Has nursed a child within three months of study enrollment\n* Been implanted with any silicone implant other than breast implants (e.g. silicone artificial joints or facial implants).\n* Confirmed diagnosis of the following rheumatic diseases or syndromes: SLE, Sjogren's syndrome, scleroderma, polymyositis, or any connective tissue disorder, rheumatoid arthritis, crystalline arthritis, infectious arthritis, spondyarthropathies, any other inflammatory arthritis, fibromyalgia, or chronic fatigue syndrome\n* Currently has a condition that could compromise or complicate wound healing\n* Has diagnosis of active cancer of any type\n* Infection or abscess anywhere in the body\n* Demonstrates tissue characteristics which are clinically incompatible with implant placement (e.g. tissue damage resulting from radiation, inadequate tissue, or compromised vascularity)\n* Possesses any condition, or is under treatment for any condition which, in the opinion of the investigator and/or consulting physician(s), may constitute an unwarranted surgical risk\n* Anatomic or physiologic abnormality which could lead to significant postoperative adverse events\n* Demonstrates characteristics that are unrealistic/unreasonable with the risks involved with the surgical procedure\n* Premalignant breast disease without a subcutaneous mastectomy\n* Untreated or inappropriately treated breast malignancy, without mastectomy\n* Are HIV positive\n* Work for Mentor or the study doctor or are directly related to anyone that works for Mentor or the study doctor\n* Implanted metal or metal devices, history of claustrophobia or other condition that would make a MRI scan prohibitive","Sex":"FEMALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2009-07-28","Study First Submit QC Date":"2009-09-18","Last Update Submit Date":"2013-02-27","Study First Post Date":"2009-09-22","Last Update Post Date":"2013-03-01","Start Date":"2013-06-01","Primary Completion Date":"2024-01-01","Completion Date":"2026-10-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this study is to demonstrate safety and effectiveness of Mentor's Spectra/Becker 80 Adjustable Breast Implants in women who are undergoing primary or revision breast augmentation. Safety information on the rate of complications, such as infection, will be collected and used to help determine device safety. These implants are investigational devices.\n\nApproximately 450 patients at sites across the United States will be enrolled in this research study by up to 30 sites. These patients will be implanted with Spectra/Becker 80 implant and monitored for 10 years to collect information on risks associated with the implant surgery as well as changes in the way these patients feel about themselves.","Conditions":"Augmentation;Augmentation Revision;General Breast Enlargement;Post-lactational Involution;Asymmetry","Phases":["PHASE3"],"Enrollment Count":0,"Primary Outcome Measure":[{"measure": "Safety will be determined by the incidence, severity, method of resolution, and duration for all adverse events on a per implant and per subject basis.", "timeFrame": "10 years"}, {"measure": "Effectiveness will be determined by changes in chest circumference and bra and cup size.", "timeFrame": "10 Years"}],"Secondary Outcome Measure":[{"measure": "Effectiveness will also be determined by changes in validated Quality of Life instrument ratios.", "timeFrame": "10 Years"}],"Healthy Volunteers":false,"Minimum Age (Years)":22,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "Mentor Spectra/Becker 80 Breast Implant", "description": "The Mentor Smooth Spectra/Becker 80 Adjustable Breast Implant has a low bleed, gel-filled outer lumen and an adjustable saline-fillable inner lumen. The inner lumen can be gradually filled with saline over a period of time via the fill tube by injecting saline through the injection dome. Once filled to the desired volume, the fill tube and injection dome are removed, and the prosthesis remains in position as a breast implant. Its purpose is to provide volume flexibility and projection adjustability.", "armGroupLabels": ["Augmentation", "Augmentation Revision"], "otherNames": ["Breast Implant", "Double Lumen Breast-Implant", "Becker 80 Implant", "Spectra Implant"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["15220594", "11547138", "15767806", "12039092", "11361228", "12560693", "10493686", "15383405", "10717013", "15166995", "11710703", "9082930", "15220596", "11176625", "14676691", "11075871", "7739707", "9105362", "11768036", "12627789", "27463401", "14747501", "14745257", "9168291", "12545102", "11306343", "10836532", "11862026", "11293521", "15548145", "11337605", "15596635", "12623911", "12589499"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":5,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":6,"NCTID":"NCT02819557","Title":"A Phase 2 Study of the Safety, Pharmacokinetics, and Pharmacodynamics of Ataluren (PTC124®) in Patients Aged ≥2 to <5 Years Old With Nonsense Mutation Dystrophinopathy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"Study of Ataluren in ≥2 to <5 Year-Old Male Participants With Duchenne Muscular Dystrophy","Status Verified Date":"2020-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to \\<5 years old with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in the dystrophin gene.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Males ≥2 to \\<5 years of age\n* Body weight ≥12 kg\n* Diagnosis of DMD\n* Nonsense mutation in at least 1 allele of the dystrophin gene\n\nExclusion Criteria:\n\n* Participation in any other drug or device clinical investigation\n* Ongoing use of prohibited concomitant medications","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-06-16","Study First Submit QC Date":"2016-06-27","Last Update Submit Date":"2020-08-12","Study First Post Date":"2016-06-30","Last Update Post Date":"2020-08-28","Start Date":"2016-06-09","Primary Completion Date":"2018-02-09","Completion Date":"2018-02-09","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This is a Phase 2, multiple-dose, open-label study evaluating the safety, pharmacokinetics (PK), and pharmacodynamics (PD) of ataluren in participants aged ≥2 to \\<5 years old with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation in the dystrophin gene.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":14,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs), TEAEs Leading to Discontinuation, and Serious Adverse Events (SAEs)", "description": "A TEAE was any untoward medical occurrence or undesirable event that begins or worsens following administration of study drug, whether or not considered related to study drug by Investigator. An SAE was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying) or persistent or significant disability/incapacity not related to dystrophinopathy. An event was not reported as an SAE, if event was exclusively a relapse or expected change or progression of baseline dystrophinopathy. AEs included both SAEs and nonserious AEs. AEs classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 4.0 and coded using Medical Dictionary for Regulatory Activities. A summary of SAEs and all non-serious AEs, regardless of causality, is located in the Reported Adverse Events section.", "timeFrame": "Baseline up to Week 56"}, {"measure": "Number of Participants With a Clinically Meaningful Abnormal Clinical Laboratory (Biochemistry, Hematology, and Urinalysis) Parameter", "description": "Clinical laboratory results that were considered clinically meaningful were to be determined by the Investigator and Sponsor. Biochemistry parameters included sodium, potassium, chloride, bicarbonate, blood urea nitrogen, creatinine, magnesium, calcium, phosphorus, uric acid, glucose, total protein, albumin, bilirubin (total, direct, and indirect), aspartate aminotransferase, alanine aminotransferase, gamma-glutamyl transferase, creatine kinase, lactate dehydrogenase, alkaline phosphatase, total cholesterol, high-density lipoprotein, low-density lipoprotein, triglycerides, and cystatin C. Hematology parameters included white blood cell count with differential, hemoglobin, hematocrit, other red cell parameters, and platelet count. Urinalysis parameters included pH, specific gravity, glucose, ketones, blood, protein, urobilinogen, bilirubin, nitrite, and leukocyte esterase. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.", "timeFrame": "Baseline up to Week 56"}, {"measure": "Number of Participants With a Clinically Meaningful Abnormal Electrocardiogram (ECG) Test Results", "description": "ECG results that were considered clinically meaningful were to be determined by the Investigator. A summary of other non-serious AEs and all serious AEs, regardless of causality is located in Reported AE section.", "timeFrame": "Baseline up to Week 56"}, {"measure": "Number of Participants With a Dose-Limiting Toxicity as Measured by Hepatic and Renal Toxicity", "description": "Dose-limiting toxicity was measured through clinical evaluations for potential hepatic and renal toxicities. The clinical evaluations included the following:\n\n* Hepatic: The participant's medical history, hepatitis screening results, all clinical blood values (particularly serum bilirubin, gamma-glutamyl transferase \\[GGT\\], aspartate aminotransferase \\[AST\\], and alanine aminotransferase \\[ALT\\] values), and all concomitant medications were reviewed.\n* Renal: The participant's medical history, all clinical blood and urine renal values, serum electrolytes, medications, and potential pre- or post-renal conditions were reviewed.", "timeFrame": "Baseline up to Week 56"}],"Secondary Outcome Measure":[{"measure": "Pharmacokinetics: Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Cmax0-6hr)", "description": "Ataluren concentrations in plasma were analyzed using a validated high performance liquid chromatography-tandem mass spectrometry (HPLC-MS/MS) method.", "timeFrame": "0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28"}, {"measure": "Pharmacokinetics: Time to Reach Maximum Observed Plasma Concentration From Time Zero up to 6 Hours After the Morning Dose (Tmax0-6hr)", "description": "Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.", "timeFrame": "0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28"}, {"measure": "Area Under the Plasma Concentration Time Curve From Time Zero up to 10 Hours After the Morning Dose (AUC0-10hr)", "description": "Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method. AUC0-10hr was measured using the linear trapezoidal rule during the ascending portion of the curve and the log-trapezoidal rule during the descending portion of the curve.", "timeFrame": "0 (predose), 1, 2, 4, 6, 8, and 10 (postdose) hours on Days 1 and 28"}, {"measure": "Pharmacokinetics: Concentration at the End of the First (Morning) Dose Interval (Ctrough6hr)", "description": "Ataluren concentrations in plasma were analyzed using a validated HPLC-MS/MS method.", "timeFrame": "0 (predose), 1, 2, 4, and 6 (postdose) hours on Days 1 and 28"}, {"measure": "Change From Baseline in Proximal Muscle Function as Assessed by Speed During TFTs", "description": "TFTs included time to stand from supine position (rise to standing), time to run/walk 10 meters (m), and time to ascend/descend 4 stairs. A decrease from baseline reflects faster completion of the functional task and, thus, better muscle function. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression (PD), a value of 30 seconds was used.", "timeFrame": "Baseline, Week 28 and Week 52"}, {"measure": "Change From Baseline in Physical Function as Measured by the NSAA", "description": "NSAA consists of 17 activities, including items assessing abilities necessary to remain functionally ambulant (that is, ability to rise from floor, to get from lying to sitting/sitting to standing, and that are known to progressively deteriorate); items that can be partly present in DMD early stages (that is, assessing head raise and standing on heels); and a number of activities such as hopping, jumping, and running. Since the boys were \\<5 years old, revised 16 point, 8-point, and 3-point scales were used over the 17 point scale. Scores for evaluations=0 (Unable to achieve independently), 1 (Modified method but achieved goal independent of physical assistance), or 2 (Normal, no obvious modification of activity). Maximum total score for the 16-point scale=32, 8-point scale=16, and 3-point scale=6. If an activity couldn't be performed due to PD/loss of ambulation, a score of 0 was assigned. Change from Baseline calculated by subtracting Baseline value from value at Week 28 and Week 52.", "timeFrame": "Baseline, Week 28 and Week 52"}, {"measure": "Change From Baseline in Height of Participants at Weeks 4, 16, 28, 40, 52, and 56", "timeFrame": "Baseline, Weeks 4, 16, 28, 40, 52, and 56"}, {"measure": "Change From Baseline in Weight of Participants at Weeks 4, 16, 28, 40, 52, and 56", "timeFrame": "Baseline, Weeks 4, 16, 28, 40, 52, and 56"}, {"measure": "Change From Baseline in Body Mass Index of Participants at Weeks 4, 16, 28, 40, 52, and 56", "description": "Body mass index is an estimate of body fat based on body weight divided by height squared.", "timeFrame": "Baseline, Weeks 4, 16, 28, 40, 52, and 56"}, {"measure": "Ataluren Palatability Characteristics as Determined by a Parent/Caregiver Questionnaire", "description": "To assess palatability characteristics, participants/parents or guardians were asked to provide a response of \"Strongly disagree\", \"Disagree\", \"Neither agree or disagree\", \"Agree\", or \"Strongly Agree\" to the following 3 questions:\n\nQuestion 1. \"Is the medicine palatable?\"\n\nQuestion 2. \"On the basis of reaction / facial expression of your child, do you think that the medication is pleasant?\"\n\nQuestion 3.\"You sometimes have problems in giving the medication to your child because he/she refuses to take it or throws it up?\"", "timeFrame": "Baseline up to Week 28"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":5,"Interventions":[{"type": "DRUG", "name": "Ataluren", "description": "White to off-white powder for oral suspension.", "armGroupLabels": ["Ataluren"], "otherNames": ["PTC124", "Translarna"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":7,"NCTID":"NCT01009294","Title":"A Phase 2a Study of Ataluren (PTC124) in Nonambulatory Patients With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"Study of Ataluren (PTC124) in Nonambulatory Participants With Nonsense-Mutation-Mediated Duchenne/Becker Muscular Dystrophy (nmDMD/BMD)","Status Verified Date":"2020-07-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of DMD or BMD\n* Presence of a nonsense mutation in the dystrophin gene\n* Unable to ambulate independently for ≥1 year due to DMD/BMD\n* Presence of sufficient shoulder and elbow function to perform study-related functional procedures (for example, 9-hole peg test)\n* Adequate hepatic, renal, and adrenal function\n* Ability to provide evaluable pretreatment echocardiogram and lung function assessments\n* Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions\n* Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \\<18 years of age)\n\nExclusion Criteria:\n\n* Initiation of systemic corticosteroid therapy within 6 months prior to start of study treatment or use of systemic aminoglycoside antibiotic within 3 months prior to start of study treatment\n* Use of any intermittent systemic corticosteroid therapy regimen (for example, 10 days on followed by 10 days off, weekend dosing, every-other-day dosing); note that participants must have either been receiving a daily dosing regimen of prednisone, prednisolone, or deflazacort at the time of enrollment into the study or must have not been receiving any systemic corticosteroids\n* Any change in treatment for congestive heart failure within 3 months prior to start of study treatment\n* Ongoing warfarin or phenytoin therapy\n* Prior therapy with ataluren\n* Known hypersensitivity to any of the ingredients or excipients of ataluren (Litesse® UltraTM \\[refined polydextrose\\], polyethylene glycol 3350, Lutrol® micro F127 \\[poloxamer 407\\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab O Sil® M5P \\[colloidal silica\\], magnesium stearate).\n* Exposure to another investigational drug within 2 months prior to start of study treatment\n* History of major surgical procedure within 1 month prior to start of study treatment or expectation of major surgical procedure (for example, scoliosis surgery) during the 48-week treatment period of the study\n* Ongoing immunosuppressive therapy (other than corticosteroids)\n* Ongoing participation in any other clinical trial\n* Requirement for daytime ventilator assistance\n* Uncontrolled clinical symptoms and signs of congestive heart failure\n* Prior or ongoing medical condition (for example, concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings, electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow up would be completed, or could impair the assessment of study results","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2009-11-05","Study First Submit QC Date":"2009-11-05","Last Update Submit Date":"2020-07-27","Study First Post Date":"2009-11-06","Last Update Post Date":"2020-07-29","Start Date":"2010-01-13","Primary Completion Date":"2010-03-23","Completion Date":"2010-03-23","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Duchenne/Becker muscular dystrophy (DMD/BMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of DMD/BMD in approximately 10-15% of boys with the disease. Ataluren (PTC124) is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study is a Phase 2a trial that enrolled boys with nonsense mutation DMD/BMD who have lost independent mobility due to the disease. This study evaluated the safety and tolerability of ataluren (PTC124) and also evaluated efficacy outcomes in this participant population.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":6,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs)", "description": "A TEAE is any untoward medical occurrence or undesirable event(s) experienced in a participant that begins or worsens following administration of the study drug or study treatment, whether or not considered related to the treatment by the Investigator. A serious adverse event (SAE) was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying), or persistent or significant disability/incapacity not related to nmDBMD. AEs included both SAEs and non-serious AEs. AEs were classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 (CTCAE) and coded using the Medical Dictionary for Regulatory Activities (MedDRA). A summary of serious and all other non-serious adverse events, regardless of causality, is located in the Reported Adverse Events module.", "timeFrame": "Baseline up to Day 50"}],"Secondary Outcome Measure":[{"measure": "Time to Complete Upper Limb Function Tasks as Measured by the Jebsen Test", "description": "Arm and hand function were assessed using the Jebsen test, a standardized clinical evaluation of tasks important to daily living. The test comprises of unilateral subtests performed with each hand (the dominant \\[DOM\\] hand and the non-DOM hand): moving and stacking light (250 grams) and heavy (500 grams) objects; picking up small, commonly encountered objects; stacking checkers; simulated feeding; simulated page turning; and writing. Participant performance of each task was timed. Longer time to complete the test indicates worse hand function.", "timeFrame": "Baseline and Week 6"}, {"measure": "Upper Limb Function as Measured by the Brooke Upper Extremity Functional Rating Scale", "description": "Upper extremity function was assessed using the Brooke Upper Extremity Functional Rating Scale, following standardized procedures. The Brooke Upper Extremity Functional Rating Scale graded arm and shoulder function from 1 to 6, with higher values indicating less function. A rating of \"1\" was used when the participant was able to abduct his arms in a full circle until they touch above his head, whereas a rating of \"6\" was used when the participant was unable to raise his hands to his mouth and had no useful function of hands.", "timeFrame": "Baseline and Week 6"}, {"measure": "Participant Activities of Daily Living as Assessed Using the Egen Klassifikation (EK) Scale", "description": "Activities of daily living after loss of ambulation were measured using the EK scale. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move arms, 6) ability to use hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performs the tasks of daily life (as described by Categories 1 to 9) and how he perceives his wellbeing (as described by Category 10). The interviewer observed the participant and assigned the final score for the tasks that could be observed in the clinic.", "timeFrame": "Baseline and Week 6"}, {"measure": "Shoulder, Elbow, and Wrist Passive and Active Range of Motion as Measured by Goniometry", "description": "Goniometry was performed to test active and passive range-of motion (RoM) of the left (L) and right (R) shoulder, elbow, and wrist following standardized procedures. The observed angle for passive and active motion for each joint was measured in degrees. Greater degree of motion indicates better response.", "timeFrame": "Baseline and Week 6"}, {"measure": "Force Exerted During Elbow Flexion and Extension, Shoulder Abduction, Hand Grip, Key Grip, and Finger Pinch as Assessed by Upper Extremity Myometry", "description": "Upper extremity myometry was performed using a hand-held dynamometer following standardized procedures. The measured strength (peak force) was reported in Newtons. There are 0.22 pounds (lbs) in 1 Newton and approximately 10 Newton (9.80665 Newton) in 1 kilogram (kg). The threshold/range of the hand-held dynamometer is 0 to 500 Newtons. Bilateral assessments were done, and 3 measurements were recorded from each muscle group on each side, when possible. When the measurements were done in duplicate or triplicate, the best value was used. Greater value indicates better measurement.", "timeFrame": "Baseline and Week 6"}, {"measure": "Time to Complete Hand Fine Motor Coordination and Dexterity Tasks as Measured by 9-Hole Peg Test (9HPT)", "description": "Hand fine motor coordination and dexterity were assessed using the 9HPT using standardized procedures. The 9HPT is a unilateral test in which 9 pegs were placed in a board and then removed with the dominate and non-dominate hand within a 5-minute time limit. The amount of time required to put the pegs in the holes and remove them again with each hand was recorded. Each test was conducted twice per hand. Longer time to complete the test indicates worse hand fine motor coordination and dexterity.", "timeFrame": "Baseline and Week 6"}, {"measure": "Forced Vital Capacity (FVC) as Measured by Spirometry", "description": "Pulmonary function was assessed as FVC in participants by spirometry using a study-specific spirometer. Multiple tests were conducted, if needed.", "timeFrame": "Baseline and Week 6"}, {"measure": "Systolic and Diastolic Function as Measured by Echocardiography With Tissue Doppler", "description": "Cardiac function was assessed by echocardiography, which included standard parameters (for example, ejection fraction, left ventricle diastolic and systolic dimensions), as well as parameters integrating Doppler flow analysis with imaging to evaluate perturbations in wall motion. A standardized data collection process harmonized data from all participating institutions and allowed for centralized review.", "timeFrame": "Week 24 and Week 48"}, {"measure": "Heart Rate as Assessed by Radial Pulse", "description": "Heart rate was measured with the radial pulse. Following the Jebsen test, the participant rested for 5 minutes in a sitting position, and the heart rate for the last minute of this rest period was collected as the resting heart rate.", "timeFrame": "Baseline and Week 6"}, {"measure": "Verbal Memory and Attention as Assessed by the Digit Span Task", "description": "A series of digits (0-9) were presented to the participant in an auditory format only. The task had 2 parts: in the Forward Condition, the participant was requested to repeat back the digits in the order they were presented, and in the Backward Condition, he was requested to reverse the order of presentation.", "timeFrame": "Baseline and Week 6"}, {"measure": "HRQL as Measured by the PedsQL Inventory Generic Core Scale", "description": "Health-related quality of life (HRQL) was measured by the Pediatric Quality of Life Inventory (PedsQL) Inventory Generic Core Scale. The generic core module comprised of 23 questions evaluating physical, emotional, social, and school functioning. Examples of items in each of the generic core module scales included: \"It is hard for me to run\"; \"I feel sad or blue\"; \"I cannot do things that other kids my age can do;\" and \"It is hard to pay attention in class.\" Each of the generic core module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Inventory Generic Core Scale data at Week 6 is presented.", "timeFrame": "Week 6"}, {"measure": "HRQL as Measured by the PedsQL Multidimensional Fatigue Scale", "description": "HRQL was measured by the PedsQL Multidimensional Fatigue Scale. The fatigue-specific module comprised of 18 questions evaluating general fatigue, sleep/rest fatigue, and cognitive fatigue. Fatigue-specific module obtains information relating to items such as: \"I feel too tired to do things that I like to do\"; \"I spend a lot of time in bed\"; and \"I have trouble remembering more than one thing at a time.\" Each of the fatigue-specific module items was scored on a 5-point response scale from 0 (never a problem) to 4 (almost always a problem). The appropriate age-specific version was completed. PedsQL Multidimensional Fatigue Scale data at Week 6 is presented.", "timeFrame": "Week 6"}, {"measure": "HRQL as Measured by the INQoL", "description": "HRQL was measured by the Individualized Neuromuscular Quality of Life Questionnaire (INQoL). The INQoL consisted of 45 questions within 10 sections. Four of the sections evaluate key muscle disease symptoms (that is, weakness, locking \\[myotonia\\], pain, and fatigue), 5 sections evaluate the degree and importance of the impact of muscle disease on particular areas of life, and 1 section asks about the positive and negative effects of treatment. A higher score indicates greater symptom impact or worse HRQL, with a range of 0-7.", "timeFrame": "Week 24 and Week 48"}, {"measure": "Muscle Fragility as Determined by Serum Creatine Kinase (CK) Levels", "description": "Blood samples collected for chemistry assays were used to quantify serum CK concentrations. Serum CK was assessed as a potential biomarker for muscle fragility, with a reduction in serum CK considered to be a positive outcome. The reference range was based on the age of the participant.", "timeFrame": "Baseline and Week 6"}, {"measure": "Gastrocnemius Muscle Dystrophin Expression as Determined by Immunofluoresence or by Western Blotting Techniques", "description": "The gastrocnemius muscle was to be biopsied from 1 leg to assess for the production of dystrophin at Week 36. The production of dystrophin was to be measured by immunofluorescene staining of the sarcolemmal membrane or by Western blotting techniques with an antibody to the C-terminal portion of the dystrophin protein (excluding revertant fibers).", "timeFrame": "Week 36"}, {"measure": "Study Drug Compliance", "description": "Study drug compliance was assessed by the participant daily diary and quantification of used and unused study drug. Compliance was assessed in terms of the amount of drug actually taken relative to the amount that should have been taken during the study.", "timeFrame": "Baseline to Day 50"}, {"measure": "Pharmacokinetics: Ataluren Plasma Exposure", "description": "Blood for ataluren concentrations over a 24-hour period was to be collected on Days 2 and 3 of Week 6. Analysis of the blood samples was to be conducted using a validated high performance liquid chromatography with tandem mass spectrometry (HPLC-MS/MS) method.", "timeFrame": "0, 2, 3, 6, 8, 9, 12, 14, 15, and 24 hours after the morning dose"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Ataluren", "description": "Oral powder", "armGroupLabels": ["Ataluren"], "otherNames": ["PTC124"]}, {"type": "DRUG", "name": "Chronic Corticosteroid Therapy", "description": "Enrollment was stratified to ensure evaluation of approximately half of the participants were receiving chronic corticosteroid therapy and approximately half of participants were not receiving chronic corticosteroid therapy. Therefore, 3 out of 6 participants were receiving chronic corticosteriod therapy. For the participants receiving chronic corticosteriod therapy, a stable corticosteriod regimen was to be maintained during the study.", "armGroupLabels": ["Ataluren"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":["http://www.ptcbio.com"],"On Roche Website":false,"Roche Website URL":null},{"_id":8,"NCTID":"NCT02413450","Title":"Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome)","Organization Study ID":null,"Organization Full Name":"Johns Hopkins University","Organization Class":"OTHER","Brief Title":"Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias","Status Verified Date":"2026-01-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* All patients and family members 18 years of age or older with inherited cardiac arrhythmias including LQTS, Brugada Syndrome (BrS), cathecholaminergic polymorphic ventricular tachycardia (CPVT) or early repolarization syndrome (ERS) are eligible for enrollment.\n* All enrolled patients will have undergone clinically indicated genetic testing.\n\nExclusion Criteria:\n\n* Age \\<18 years\n* \\>85 years\n* pregnant women\n* life-limiting co-morbidities\n* immunocompromise","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2015-04-06","Study First Submit QC Date":"2015-04-09","Last Update Submit Date":"2026-01-15","Study First Post Date":"2015-04-10","Last Update Post Date":"2026-01-16","Start Date":"2013-08-01","Primary Completion Date":"2030-08-01","Completion Date":"2031-08-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Human induced pluripotent stem cells (hiPSCs) have driven a paradigm shift in the modeling of human disease; the ability to reprogram patient-specific cells holds the promise of an enhanced understanding of disease mechanisms and phenotypic variability, with applications in personalized predictive pharmacology/toxicology, cell therapy and regenerative medicine. This research will collect blood or skin biopsies from patients and healthy controls for the purpose of generating cell and tissue models of Mendelian heritable forms of heart disease focusing on cardiomyopathies, channelopathies and neuromuscular diseases. Cardiomyocytes derived from hiPSCs will provide a ready source of disease specific cells to study pathogenesis and therapeutics.","Conditions":"Inherited Cardiac Arrythmias;Long QT Syndrome (LQTS);Brugada Syndrome (BrS);Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT);Early Repolarization Syndrome (ERS);Arrhythmogenic Cardiomyopathy (AC, ARVD/C);Hypertrophic Cardiomyopathy (HCM);Dilated Cardiomyopathy (DCM);Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy);Normal Control Subjects","Phases":null,"Enrollment Count":100,"Primary Outcome Measure":[{"measure": "\u2022Production of cardiomyocytes and engineered tissues from hiPSC-derived cardiomyocytes to be used in mechanistic studies of disease and testing of therapeutic interventions.", "description": "Whole Blood drawn on day of informed consent obtained.", "timeFrame": "10 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":85,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":9,"NCTID":"NCT04906460","Title":"An Open-label Phase 1b/2 Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Wave Life Sciences Ltd.","Organization Class":"INDUSTRY","Brief Title":"Open-label Study of WVE-N531 in Patients With Duchenne Muscular Dystrophy (FORWARD-53)","Status Verified Date":"2025-09-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"This is a Phase 1b/2 open-label study to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and clinical effects of intravenous (IV) WVE-N531 in patients with Duchenne muscular dystrophy (DMD). To participate in the study, patients must have a documented mutation of the DMD gene that is amenable to exon 53 skipping intervention. This study has 3 parts, Part A, Part B, including Part B Extension Arm, and Part C. Part A is completed. Part B is completed. Following completion of Part B, all patients elected to continue to receive study drug in the optional Part B open-label Extension Arm. Part C has been added to the study and will enroll new patients.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nPart A and Part B:\n\n1. Part A patients may be screened for Part B upon completion of a washout period of ≥18 weeks from last dose in Part A. New patients may also be screened for Part B\n2. Diagnosis of DMD based on clinical phenotype.\n3. Documented mutation in the DMD gene associated with DMD that is amenable to exon 53 intervention\n4. Score of ≥1 on item 1 or 2 of the shoulder component of the Performance of the Upper Limb (PUL) (Part B ).\n5. Ambulatory or non-ambulatory male\n6. Stable pulmonary and cardiac function, as measured by the following: (Part B):\n\n1\\. Reproducible percent predicted forced vital capacity (FVC) ≥50%; 2. Left ventricular ejection fraction (LVEF) \\>55% in patients \\<10 years of age and \\>45% in patients ≥10 years of age, as measured (and documented) by echocardiogram (ECHO) and/or cardiac magnetic resonance imaging (MRI), within 6 months prior to enrollment into the study.\n\n7.Adequate muscle at Screening to perform open muscle biopsies, preferably deltoid.\n\n8\\. Currently on a stable corticosteroid therapy regimen, defined as initiation of systemic corticosteroid therapy that occurred ≥6 months prior to Screening and no changes in dose ≤3 months prior to Screening visit (Part B ).\n\nPart C\n\n1. New patients to be screened for Part C.\n2. Diagnosis of DMD based on clinical phenotype.\n3. Documented mutation in the DMD gene associated with DMD that is amenable to exon 53 intervention\n4. Score of ≥1 on item 1 or 2 of the shoulder component of the Performance of the Upper Limb (PUL) .\n5. Ambulatory male\n6. Stable pulmonary and cardiac function, as measured by the following:\n\n1\\. Reproducible percent predicted forced vital capacity (FVC) ≥50%; 2. Left ventricular ejection fraction (LVEF) \\>55% in patients as measured (and documented) by echocardiogram (ECHO) and/or cardiac magnetic resonance imaging (MRI), within 6 months prior to enrollment into the study.\n\n7\\. Adequate muscle at Screening to perform open muscle biopsies, preferably deltoid.\n\n8\\. Currently on a stable corticosteroid therapy regimen, defined as initiation of systemic corticosteroid therapy that occurred ≥6 months prior to Screening and no changes in dose ≤3 months prior to Screening visit .\n\nExclusion Criteria:\n\n1. Clinically significant medical finding on the physical examination other than DMD that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and/or completion of the study procedures.\n2. Part B and Part C: Major surgery within 3 months prior to Day 1 or planned major surgery for any time during the study.\n3. Part B: Diagnosis of active alcohol, cannabinoid, or other substance use disorder (except nicotine) within 6 months prior to the Screening visit\n4. Part C: Any recreational substance use (including prescribed cannabinoids), with the exception of nicotine, irrespective of legality, within 2 months prior to Screening and/or unwilling to refrain from such use for the duration of the study.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2021-05-24","Study First Submit QC Date":"2021-05-24","Last Update Submit Date":"2025-12-08","Study First Post Date":"2021-05-28","Last Update Post Date":"2025-12-15","Start Date":"2021-09-28","Primary Completion Date":"2026-06-27","Completion Date":"2027-04-24","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a Phase 1b/2 open-label study to evaluate the safety, tolerability, pharmacokinetic (PK), pharmacodynamic (PD), and clinical effects of intravenous (IV) WVE-N531 in patients with Duchenne muscular dystrophy (DMD). To participate in the study, patients must have a documented mutation of the DMD gene that is amenable to exon 53 skipping intervention. This study has 3 parts, Part A, Part B, including Part B Extension Arm, and Part C. Part A is completed. Part B is completed. Following completion of Part B, all patients elected to continue to receive study drug in the optional Part B open-label Extension Arm. Part C has been added to the study and will enroll new patients.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":26,"Primary Outcome Measure":[{"measure": "Part A: Safety: Proportion of patients with adverse events (AEs)", "timeFrame": "Day 1 (initial dose) up to 24 weeks after the last dose of Part A"}, {"measure": "Part B: Pharmacodynamics: Dystrophin level (% normal dystrophin) as assessed by Western blot of muscle tissue following multiple doses of WVE-N531", "timeFrame": "At Week 26 and at Week 50 of Part B"}, {"measure": "Part C: Pharmacodynamics: Change from baseline dystrophin level (% normal dystrophin) as assessed by a validated assay analysis in muscle tissue following multiple doses of WVE-N531", "timeFrame": "At Baseline and following 24 weeks of treatment in Part C"}],"Secondary Outcome Measure":[{"measure": "Part A: Pharmacokinetics: Concentration of WVE-N531 in muscle tissue", "timeFrame": "Day 1 (initial dose) through 2 weeks after the last dose of Part A"}, {"measure": "Part A: Pharmacodynamics: Dystrophin level (% normal dystrophin) as assessed by Western blot of muscle tissue following multiple doses of WVE-N531", "timeFrame": "Day 1 (initial dose) through 2 weeks after the last dose of Part A"}, {"measure": "Part B: North Star Ambulatory Assessment (NSAA) (Version 2.0), including time to stand and a timed 10-meter walk/run, with a range of 0 to 34 where higher scores indicate better outcome.", "timeFrame": "Collected at baseline, Weeks 24 and 48 of Part B, at baseline and Weeks 26 and 50 of the Extension Arm"}, {"measure": "Part B: Performance of the Upper Limb (PUL) (Version 2.0) with a range of 0 to 64 where higher scores indicate a better outcome.", "timeFrame": "Collected at baseline, Weeks 24 and 48 of Part B, at baseline and Weeks 26 and 50 of the Extension Arm"}, {"measure": "Part B: Stride Velocity 95th Centile (SV95C)/upper limb outcome (non-ambulatory patients)", "timeFrame": "Collected at baseline, Weeks 24 and 48 of Part B, at baseline and Weeks 26 and 50 of the Extension Arm"}, {"measure": "Part C: North Star Ambulatory Assessment (NSAA) (Version 2.0), including time to stand and a timed 10-meter walk/run, with a range of 0 to 34 where higher scores indicate better outcome.", "timeFrame": "Collected at baseline and Week 24 of Part C"}, {"measure": "Part C: Performance of the Upper Limb (PUL) (Version 2.0) with a range of 0 to 64 where higher scores indicate a better outcome.", "timeFrame": "Collected at baseline and Week 24 of Part C"}, {"measure": "Part C: Stride Velocity 95th Centile (SV95C)/upper limb outcome (non-ambulatory patients)", "timeFrame": "Collected at baseline and Week 24 of Part C"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":18,"Interventions":[{"type": "DRUG", "name": "WVE-N531", "description": "WVE-N531 is an antisense oligonucleotide (ASO)", "armGroupLabels": ["WVE-N531"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":10,"NCTID":"NCT03917589","Title":"Preventive Use of COrticosteroids During the Post-Partum in Relapsing MS","Organization Study ID":null,"Organization Full Name":"Rennes University Hospital","Organization Class":"OTHER","Brief Title":"Preventive Use of COrticosteroids During the Post-Partum in Relapsing MS Patients (COPP-MS)","Status Verified Date":"2020-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Multiple Sclerosis (MS) is most prevalent among women of childbearing age. The post-partum (PP) period is a critical phase in MS patients, during which a recrudescence of disease activity is expected. Different strategies have been assessed in the prevention of post-partum relapse. High dose methylprednisolone was evaluated in a case control study with historical controls but the positive results have not been confirmed.\n\nIn this study, the main objective will be to compare the risk of relapse in the 6 months PP period between patients treated systematically by high dose methylprednisolone after delivery compared to patients who didn't receive a systematic treatment.\n\nThe second objective will be focused on the comparison of the disease activity and disability progression in patients who have resumed early a Disease Modifying Drug (DMD) after delivery vs patients who haven't.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Relapsing MS patients according to MacDonald criteria 2010\n* Age between 15 and 49 years old at the pregnancy\n* Age between 18 and 51 years old when filling the questionnaire of the study\n* At least one full pregnancy with live birth after the beginning of the MS diagnosis\n* At least one neurological visit during the 12 months period after the delivery\n* At least one neurological visit per year in the 12 months preceding the pregnancy\n* Pregnancy must occur between 01/2007 and 01/2017 In case of several pregnancies per woman, only the first one occurring in the period will be analyzed\n* Having received information on the protocol and not having expressed opposition to participating in the study.\n\nExclusion Criteria:\n\n* Patients who have received Immunoglobulines or plasma exchanges after the delivery in prevention of a relapse\n* Patients presenting a SPMS or PPMS form at the beginning of pregnancy\n* Protected persons referred to in Articles L. 1121-6 to L. 1121-9 of the code of public health (eg minors, persons deprived of liberty, ..) except nursing mothers postpartum.","Sex":"FEMALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2019-04-12","Study First Submit QC Date":"2019-04-12","Last Update Submit Date":"2020-11-09","Study First Post Date":"2019-04-17","Last Update Post Date":"2020-11-10","Start Date":"2019-06-20","Primary Completion Date":"2020-05-18","Completion Date":"2020-05-18","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Multiple Sclerosis (MS) is most prevalent among women of childbearing age. The post-partum (PP) period is a critical phase in MS patients, during which a recrudescence of disease activity is expected. Different strategies have been assessed in the prevention of post-partum relapse. High dose methylprednisolone was evaluated in a case control study with historical controls but the positive results have not been confirmed.\n\nIn this study, the main objective will be to compare the risk of relapse in the 6 months PP period between patients treated systematically by high dose methylprednisolone after delivery compared to patients who didn't receive a systematic treatment.\n\nThe second objective will be focused on the comparison of the disease activity and disability progression in patients who have resumed early a Disease Modifying Drug (DMD) after delivery vs patients who haven't.","Conditions":"Multiple Sclerosis","Phases":null,"Enrollment Count":350,"Primary Outcome Measure":[{"measure": "Difference of the proportion of patients with >= 1 relapse between the two groups", "description": "proportion of patients with \\>= 1 relapse during the six-month period after delivery between the patients who have systematically been treated by high-dose corticosteroids after the delivery; and patients who haven't been systematically treated by high-dose corticosteroids.", "timeFrame": "6 months"}],"Secondary Outcome Measure":[{"measure": "Difference of the proportion of patients with >= 1 relapse", "description": "proportion of patients with \\>= 1 relapse during the six-month period after delivery between patients who have resumed a DMD early after the delivery (during the first two months) compared to a delayed reintroduction, or an absence of reintroduction", "timeFrame": "6 months"}, {"measure": "Difference of the annualized relapse rate", "description": "Number of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "6 months"}, {"measure": "Difference of the annualized relapse rate", "description": "Number of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "1 year"}, {"measure": "Difference of the annualized relapse rate", "description": "Number of the annualized relapse rate after the delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "two years"}, {"measure": "Difference of the time to first relapse", "description": "Time to first relapse after delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "Date of delivery"}, {"measure": "Difference of the disability progression", "description": "Score of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "6 months"}, {"measure": "Difference of the disability progression", "description": "Score of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "1 year"}, {"measure": "Difference of the disability progression", "description": "Score of Expanded Disability Status Scale (EDSS) (from 0=no disability, to 10= Death / No sub scales) between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "2 years"}, {"measure": "Difference of percentage of with Gadolinium enhancing lesions", "description": "Difference of percentage of with Gadolinium enhancing lesions during the 6-month period after the delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "6 months"}, {"measure": "Difference of the number of Gadolinium enhancing lesions", "description": "compare the number of Gadolinium enhancing lesions during the 6-month period after the delivery between corticosteroids or not and between early DMD vs delayed DMD", "timeFrame": "6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":15,"Maximum Age (Years)":49,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":11,"NCTID":"NCT01557400","Title":"An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"Study of Ataluren for Previously Treated Participants With Nonsense Mutation Duchenne/Becker Muscular Dystrophy (nmDBMD) in Europe, Israel, Australia, and Canada","Status Verified Date":"2020-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study comprises a Phase 3, open-label study of ataluren in participants with nmDBMD who previously received ataluren at an Investigator site in a prior PTC-sponsored clinical study. A separate open-label study (PTC124-GD-016-DMD; NCT01247207) is being conducted for nmDBMD participants who previously received ataluren at an Investigator site in the United States (US).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Evidence of signed and dated informed consent/assent document(s) indicating that the participant (and/or his parent/legal guardian) has been informed of all pertinent aspects of the trial. Note: If the study candidate is considered a child under local regulation, a parent or legal guardian must provide written consent prior to initiation of study screening procedures and the study candidate may be required to provide written assent. The rules of the responsible Institutional Review Board/Independent Ethics Committee (IRB/IEC) regarding whether 1 or both parents must provide consent and the appropriate ages for obtaining consent and assent from the participant should be followed.\n2. History of exposure to ataluren in a prior PTC study in nmDBMD. Note: Participants are considered eligible only if they received ataluren during their participation in 1 or more prior PTC-sponsored studies of ataluren in nmDBMD. Note: Participants who have participated in a prior or ongoing PTC study with ataluren in nmDBMD at a trial site in the US or Canada, but reside outside of the US and Canada, may be eligible for this study (with the approval of the PTC Therapeutics Medical Monitor).\n3. Male sex.\n4. In participants who are sexually active, willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during ataluren administration and the 6-week follow-up period.\n5. Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions. Note: Psychological, social, familial, or geographical factors that might preclude adequate study participation should be considered.\n\nExclusion Criteria:\n\n1. Exposure to another investigational drug within 1 month prior to start of study treatment.\n2. Eligibility for another ataluren clinical trial that is actively enrolling study participants.\n3. Known hypersensitivity to any of the ingredients or excipients of ataluren (Litesse® UltraTM \\[refined polydextrose\\], polyethylene glycol 3350, Lutrol® micro F127 \\[poloxamer 407\\], mannitol 25C, crospovidone XL10, hydroxyethyl cellulose, vanilla, Cab-O-Sil® M5P \\[colloidal silica\\], magnesium stearate).\n4. Ongoing use of the following medications:\n\n   1. Coumarin-based anticoagulants (for example, warfarin), phenytoin, tolbutamide, or paclitaxel.\n   2. Systemic aminoglycoside therapy\n5. Ongoing uncontrolled medical/surgical condition, electrocardiogram (ECG) findings, or laboratory abnormality that, in the Investigator's opinion, could adversely affect the safety of the participant or make it unlikely that follow-up would be completed.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2012-03-15","Study First Submit QC Date":"2012-03-15","Last Update Submit Date":"2020-11-03","Study First Post Date":"2012-03-19","Last Update Post Date":"2020-11-25","Start Date":"2012-05-20","Primary Completion Date":"2018-01-19","Completion Date":"2018-01-19","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Duchenne/Becker muscular dystrophy (DBMD) is a genetic disorder that develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability during childhood and teenage years. A specific type of mutation, called a nonsense (premature stop codon) mutation, is the cause of DBMD in approximately 10-15% of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. This study comprises a Phase 3, open-label study of ataluren in participants with nmDBMD who previously received ataluren at an Investigator site in a prior PTC-sponsored clinical study. A separate open-label study (PTC124-GD-016-DMD; NCT01247207) is being conducted for nmDBMD participants who previously received ataluren at an Investigator site in the United States (US).","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy;Dystrophinopathy","Phases":["PHASE3"],"Enrollment Count":94,"Primary Outcome Measure":[{"measure": "Number of Participants With Treatment Emergent Adverse Events (TEAEs)", "description": "A TEAE is any untoward medical occurrence or undesirable event(s) experienced in a participant that begins or worsens following administration of the study drug or study treatment, whether or not considered related to the treatment by the Investigator. A serious adverse event (SAE) was an adverse event (AE) resulting in any of the following outcomes or deemed significant for any other reason, death, initial or prolonged inpatient hospitalization, life-threatening experience (immediate risk of dying), or persistent or significant disability/incapacity not related to nmDBMD. AEs included both SAEs and non-serious AEs. AEs were classified according to National Cancer Institute Common Terminology Criteria for Adverse Events version 3.0 (CTCAE) and coded using the Medical Dictionary for Regulatory Activities (MedDRA). A summary of serious and all other non-serious adverse events, regardless of causality, is located in the Reported Adverse Events module.", "timeFrame": "Baseline up to Week 246"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in 6MWD as Measured by the 6MWT", "description": "The 6MWD was assessed in participants who were ambulatory using standardized procedures. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test.", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}, {"measure": "Change From Baseline in Physical Function as Measured by the NSAA", "description": "The NSAA was used to evaluate physical function in participants who were ambulatory at study entry, using standardized procedures. The NSAA consisted of 17 activities, each scored as 0 (activity could not be performed), 1 (modified method but achieved goal without physical assistance from another), or 2 (normal, achieved goal without assistance). The sum of these 17 scores was used to form a total score. If fewer than 13 of the 17 activities were performed, the total score was considered missing. If 13 to 16 activities were performed, the total score was calculated by multiplying the sum of the scores in the x activities that were performed by 17/x. If an activity could not be performed due to disease progression/loss of ambulation, a score of 0 was assigned. The linear score was the linear transformation of the NSAA score to a scale of 0 (worst) to 100 (best).", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}, {"measure": "Change From Baseline in Time to Stand From Supine Position", "description": "Time to stand from the supine position to a standing position was assessed in ambulatory participants. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used.", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}, {"measure": "Change From Baseline in Time to Walk/Run 10 Meters", "description": "Time to walk/run 10 meters was measured in ambulatory participants. If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used.", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}, {"measure": "Change From Baseline in Pulmonary Function as Measured by Spirometry", "description": "Pulmonary function parameters of %-predicated FVC, percent-predicted FEV1 (adjusted using ulna length and age), PEF, and PCF was assessed in non-ambulatory participants by using a spirometer. Due to the difficulty in obtaining an accurate standing height measurement in non-ambulatory participants, ulna length and arm span were used as a surrogate measure for height when calculating percent-predicted FVC.", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}, {"measure": "Change From Baseline in Participant and Parent/Caregiver-Reported ADL, as Measured by the EK Scale", "description": "Activities of daily living after loss of ambulation were measured using the EK scale. The EK scale is an ordinal scale ranging from 0 to 30 points where 0 represents the highest level of independent function and 30 the lowest. The scale consists of 10 categories (each scored 0 to 3), involving different functional domains including 1) ability to use wheelchair, 2) ability to transfer from wheelchair, 3) ability to stand, 4) ability to balance in the wheelchair, 5) ability to move arms, 6) ability to use hands and arms when eating, 7) ability to turn in bed, 8) ability to cough, 9) ability to speak, and 10) physical well-being. The administration of the EK scale consisted of an interview of the participant to capture how he performs the tasks of daily life (as described by Categories 1 to 9) and how he perceives his wellbeing (as described by Category 10). The interviewer observed the participant and assigned the final score for the tasks that could be observed in the clinic.", "timeFrame": "Baseline, Weeks 48, 96, 144, 192, and 240"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Ataluren", "description": "Oral powder for suspension", "armGroupLabels": ["Ataluren"], "otherNames": ["PTC124\u00ae"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["17450125", "17389552", "34791888"],"See Also Links":["https://filehosting-v2.pharmacm.com/api/Attachment/Download?tenantId=80217411&amp;parentIdentifier=PTC124-GD-019-DMD&amp;attachmentIdentifier=0c3d8df5-876e-4f54-9b71-fcb919b589e6&amp;fileName=PTC124-019-CSR-002514_1.0_PTC124-GD-019-DMD_Final_CSR_16-2-9_CINRG_Listing.pdf&amp;versionIdentifier="],"On Roche Website":false,"Roche Website URL":null},{"_id":12,"NCTID":"NCT02780492","Title":"Developing Tools for Assessing the Natural History of Ambulant and Non-ambulant DMD Individuals to Assist in Antisense-oligomer Clinical Trials","Organization Study ID":null,"Organization Full Name":"University College, London","Organization Class":"OTHER","Brief Title":"Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study","Status Verified Date":"2024-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Novel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nFor non-ambulant patients:\n\n1. Children and teenagers aged between 5 and 18 years with DMD, who have lost the ability to walk 10 meters with no support\n2. The diagnosis of DMD must be documented by genetic testing. If a muscle biopsy is available, it should contain less than 10% of revertant fibres\n3. Patients should have deletions amenable of skipping of exons 51 or 53 or 45 or 44 or 46 or 50 or 52\n4. Patients should be capable of sitting upright in a wheelchair for at least an hour\n5. Patients should be stable from a respiratory point of view. Artificial ventilation with either Bipap or tracheostomy is not a contraindication to the study.\n6. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age).\n7. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category.\n\nFor ambulant patients:\n\n1. Ambulant children from 5 years old and teenagers with DMD, and potential candidates for future genetic therapies with antisense oligomer (AO) exon skipping\n2. The diagnosis of DMD must be documented by MLPA or a standard genetic test for the disorder, genotypically confirmed to have an out-of-frame deletion(s) that could be corrected by skipping exon 51 or 53 or 45 or 44 or 46 or 50 or 52\n3. If a muscle biopsy is available less than 10% revertant fibres\n4. Ability to walk independently for at least 75 meters in 6 minutes at recruitment.\n5. Patients should receive the standard of care for DMD as recommended by the NorthStar UK and TREAT-NMD (i.e.: on glucocorticoids treatment)\n6. Sufficiently preserved pulmonary function (FVC \\>30%) and absence of symptoms of cardiac failure\n7. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age)\n8. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category.\n\nFor healthy volunteers and disease controls:\n\n1. Participant are able to provide informed consent/assent for taking blood samples and/or performing limb MRI and/or physiotherapy assessment of the upper limb function\n2. Participants have a neuromuscular disease that is not Duchenne Muscular Dystrophy or are a healthy volunteer with no neuromuscular disease\n3. Able to have a blood sample taken\n\nExclusion Criteria:\n\nFor non-ambulant patients:\n\n1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)\n2. Patients with severe intellectual impairment, who would be unable to cooperate with examination\n3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study\n4. Symptomatic cardiac failure\n5. Recent (\\< 6 months) upper limb surgery or trauma\n6. Anticipated surgery for anytime during the duration of the study\n7. None of the current treatments for DMD are exclusion criteria\n8. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia.\n\nFor ambulant patients:\n\n1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)\n2. Patients with severe intellectual impairment, who would be unable to cooperate with examination\n3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study\n4. Recent surgery or anticipated for anytime during the duration of the study\n5. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia.\n\nFor healthy volunteers and disease controls\n\n1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)\n2. Patients with severe intellectual impairment, who would be unable to cooperate with examination\n3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study\n4. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-05-19","Study First Submit QC Date":"2016-05-20","Last Update Submit Date":"2024-01-03","Study First Post Date":"2016-05-23","Last Update Post Date":"2024-01-05","Start Date":"2012-04-11","Primary Completion Date":"2022-04-28","Completion Date":"2022-04-28","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Novel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":35,"Primary Outcome Measure":[{"measure": "Disease progression", "description": "Evaluate disease progression from ambulant to non-ambulant patients through a composite assessment tool", "timeFrame": "up to 4 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "Set of assessment tools", "armGroupLabels": ["Ambulant patients", "Healthy volunteers and Disease controls", "Non-ambulant patients"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["37099511", "34606104", "33215544"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":13,"NCTID":"NCT01982695","Title":"Compare Efficacy of the Angiotensin Converting Enzyme Inhibitor (ACEi) Lisinopril With Angiotensin II Receptor Antagonist Losartan (ARB) for the Cardiomyopathy of Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"Cardiomyopathy in DMD: Lisinopril vs. Losartan","Status Verified Date":"2017-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This trial is a double-blind randomized clinical trial of lisinopril versus losartan for the treatment of cardiomyopathy in Duchenne Muscular Dystrophy (DMD). Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have been reported to delay the onset and progression of left ventricle dysfunction in children with DMD. Multiple studies show therapeutic efficacy of losartan in animals with cardiomyopathy related to muscular dystrophy and in patients with cardiomyopathy from diverse causes. ARBs are often reserved for patients in whom heart failure is not adequately treated or where side effects preclude the use of an ACEi. However, in DMD, losartan might be a better choice as a first line drug because of studies demonstrating a potential benefit for skeletal muscle in the mdx mouse. Considering that both skeletal and cardiac muscles are major contributors of the disability of DMD, a drug that could improve both heart and skeletal muscles simultaneously would need consideration as the drug of choice for the cardiomyopathic DMD patient.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Duchenne muscular dystrophy patients of all ages\n* Null mutation of the dystrophin gene or muscle with \\<5% dystrophin\n* Doppler echocardiogram with ejection fraction (EF) \\<55% within 30 days of enrollment\n* Ability to cooperate for testing\n* Glucocorticoid treatment acceptable including daily or weekend administration of prednisone or deflazacort\n\nExclusion Criteria:\n\n* Patients with EF 55% or greater\n* Patients with EF \\<40% after washout\n* Patients taking \\>5 mg lisinopril, or \\>25 mg losartan or \\>5 mg enalapril\n* Skeletal deformities or pulmonary anatomical variants that preclude consistent measures of Doppler echocardiography","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2013-10-29","Study First Submit QC Date":"2013-11-05","Last Update Submit Date":"2017-01-31","Study First Post Date":"2013-11-13","Last Update Post Date":"2017-03-21","Start Date":"2009-03-01","Primary Completion Date":"2012-08-01","Completion Date":"2013-09-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This trial is a double-blind randomized clinical trial of lisinopril versus losartan for the treatment of cardiomyopathy in Duchenne Muscular Dystrophy (DMD). Both drugs are known to be effective for the treatment of dilated cardiomyopathy. ACEi have been reported to delay the onset and progression of left ventricle dysfunction in children with DMD. Multiple studies show therapeutic efficacy of losartan in animals with cardiomyopathy related to muscular dystrophy and in patients with cardiomyopathy from diverse causes. ARBs are often reserved for patients in whom heart failure is not adequately treated or where side effects preclude the use of an ACEi. However, in DMD, losartan might be a better choice as a first line drug because of studies demonstrating a potential benefit for skeletal muscle in the mdx mouse. Considering that both skeletal and cardiac muscles are major contributors of the disability of DMD, a drug that could improve both heart and skeletal muscles simultaneously would need consideration as the drug of choice for the cardiomyopathic DMD patient.","Conditions":"Duchenne Muscular Dystrophy (DMD);Cardiomyopathy","Phases":["NA"],"Enrollment Count":23,"Primary Outcome Measure":[{"measure": "Cardiac Ejection Fraction as Measured by Echocardiogram", "description": "Mean cardiac ejection fraction as measured by echocardiogram at 12 month study visit. Cardiac ejection fractions were measured using the biplane Simpson's rule using images obtained from the apical 4 chamber views of the heart.", "timeFrame": "12 month visit"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Losartan", "armGroupLabels": ["Losartan"]}, {"type": "DRUG", "name": "Lisinopril", "armGroupLabels": ["Lisinopril"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["19121448", "22463839", "24459612"],"See Also Links":["http://www.nationwidechildrens.org/center-for-gene-therapy", "http://mdausa.org"],"On Roche Website":false,"Roche Website URL":null},{"_id":14,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["28971520"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":15,"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":"2026-04-03T00:00:00","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":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["41774261"],"See Also Links":["http://www.ncbi.nlm.nih.gov/pubmed/30219580"],"On Roche Website":false,"Roche Website URL":null},{"_id":16,"NCTID":"NCT06861270","Title":"Estimation of Non-Reimbursable Direct Medical Costs, Direct Non-Medical Costs, and Indirect Costs for Patients With Duchenne Muscular Dystrophy in France","Organization Study ID":null,"Organization Full Name":"Assistance Publique - Hôpitaux de Paris","Organization Class":"OTHER","Brief Title":"Estimation of Non-Reimbursable Costs for Patients With Duchenne Muscular Dystrophy in France","Status Verified Date":"2024-07-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"Duchenne muscular dystrophy (DMD) is a chronic neuromuscular disorder affecting approximately 150 to 200 newborns annually, predominantly males, and is characterized by progressive muscle atrophy and weakness due to a complete absence of dystrophin. DMD presents a severe phenotype, with life expectancy typically extending into the third decade. Data on healthcare utilization and associated costs for DMD patients, particularly within the French healthcare context, remain limited. The EPARDYS study aims to examine the care pathways of these patients using data from the Banque Nationale des Données Maladies Rares (BNDMR) and the Système National des Données de Santé (SNDS), enabling a detailed characterization of patient demographics, healthcare utilization patterns, and associated costs.\n\nHowever, only direct costs eligible for reimbursement under the Affection Longue Durée (ALD 100%) scheme can be evaluated. Additional resources are consumed by DMD patients, particularly for medical care that falls outside the scope of reimbursement. Furthermore, the high level of dependency in these patients may lead to the need for home adaptations or other expenditures outside the healthcare domain but linked to the disease. Informal caregiving also plays a significant role.\n\nThese additional family-incurred costs must be considered. The CouDuMyo study will aim to estimate all relevant cost components from a societal perspective, considering both minors and adults, whether they attend school or work. The medico-social aspect of care, along with the collection of data on aids and benefits received, will offer insights into the nature of the support available to families in France. The knowledge gained regarding non-reimbursable, disease-related costs according to patient characteristics will provide a comprehensive view of the financial burden borne by patients and their caregivers. This assessment is particularly relevant in the context of emerging therapies, which may reduce these associated costs. The main objective will be to describe the resource utilization associated with DMD care that is not eligible for reimbursement, including direct medical costs not covered, medico-social expenses, direct non-medical costs, and indirect costs.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"The patients identified are those present in the BNDMR and with an up-to-date address for their follow-up centre.\n\nInclusion criteria\n\n* Patients of any age with DMD diagnosed more than 6 months ago;\n* Patient included in the BNDMR, not objecting to the collection of his or her data (see BNDMR 'Agreement to be contacted for a protocol') and alive at the time of his or her request to participate in the study.\n\nExclusion Criteria:\n\n* Patient taking part in an interventional clinical study with changes to usual management (see BNDMR 'Patient taking part in a protocol');\n* Patient and/or main carer objecting to the use of their data;\n* Patient and/or main carer whose understanding of the French language does not allow them to complete the questionnaire.","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-09-25","Study First Submit QC Date":"2025-02-28","Last Update Submit Date":"2025-02-28","Study First Post Date":"2025-03-06","Last Update Post Date":"2025-03-06","Start Date":"2024-05-28","Primary Completion Date":"2025-03-31","Completion Date":"2025-07-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Duchenne muscular dystrophy (DMD) is a chronic neuromuscular disorder affecting approximately 150 to 200 newborns annually, predominantly males, and is characterized by progressive muscle atrophy and weakness due to a complete absence of dystrophin. DMD presents a severe phenotype, with life expectancy typically extending into the third decade. Data on healthcare utilization and associated costs for DMD patients, particularly within the French healthcare context, remain limited. The EPARDYS study aims to examine the care pathways of these patients using data from the Banque Nationale des Données Maladies Rares (BNDMR) and the Système National des Données de Santé (SNDS), enabling a detailed characterization of patient demographics, healthcare utilization patterns, and associated costs.\n\nHowever, only direct costs eligible for reimbursement under the Affection Longue Durée (ALD 100%) scheme can be evaluated. Additional resources are consumed by DMD patients, particularly for medical care that falls outside the scope of reimbursement. Furthermore, the high level of dependency in these patients may lead to the need for home adaptations or other expenditures outside the healthcare domain but linked to the disease. Informal caregiving also plays a significant role.\n\nThese additional family-incurred costs must be considered. The CouDuMyo study will aim to estimate all relevant cost components from a societal perspective, considering both minors and adults, whether they attend school or work. The medico-social aspect of care, along with the collection of data on aids and benefits received, will offer insights into the nature of the support available to families in France. The knowledge gained regarding non-reimbursable, disease-related costs according to patient characteristics will provide a comprehensive view of the financial burden borne by patients and their caregivers. This assessment is particularly relevant in the context of emerging therapies, which may reduce these associated costs. The main objective will be to describe the resource utilization associated with DMD care that is not eligible for reimbursement, including direct medical costs not covered, medico-social expenses, direct non-medical costs, and indirect costs.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":171,"Primary Outcome Measure":[{"measure": "Average annualised cost per patient/family.", "description": "The consumption of resources related to the care of patients with Duchenne muscular dystrophy (DMD) that are not eligible for reimbursement. This includes direct medical costs not covered by insurance, such as certain treatments, therapies, or medical devices that patients may require. Additionally, medico-social costs will be assessed, including services that support daily living and social integration, such as specialized transportation, caregiving, and educational support. Direct non-medical costs will also be evaluated, particularly those related to home modifications or equipment necessary for adapting the living environment to the patient's needs. Finally, the study will analyze indirect costs, which encompass the loss of productivity both for the patient and their caregivers, as well as the value of informal care provided by family members or other non-professional caregivers.", "timeFrame": "1 year"}],"Secondary Outcome Measure":[{"measure": "Different types of costs identified for managing the disease", "description": "All relevant expenses associated with the care of Duchenne muscular dystrophy (DMD) patients. The analysis will cover various categories of costs, including direct medical costs (both reimbursable and non-reimbursable), medico-social costs (such as home care or special education), direct non-medical costs (such as home adaptations or specialized equipment), and indirect costs (such as loss of productivity and informal caregiving)", "timeFrame": "from disease identification to questionnaire's completion, up to 98 years"}, {"measure": "Costs based on the severity of the disease", "description": "How costs vary depending on the stage of disease progression. As DMD is a degenerative condition, the severity of the disease evolves over time, requiring different levels of care and resources at each stage. This analysis will examine how costs increase or change as the patient's functional abilities decline", "timeFrame": "from disease identification to questionnaire's completion, up to 98 years"}, {"measure": "Determinants of the identified costs", "description": "The key factors that drive the costs of managing DMD. These determinants may include patient characteristics (such as age, disease duration, and comorbidities), socioeconomic factors (such as income, access to care, and geographic location), and the type of support or assistance available (such as public benefits, informal caregiving, and specialized services).", "timeFrame": "from disease identification to questionnaire's completion, up to 98 years"}],"Healthy Volunteers":false,"Minimum Age (Years)":1,"Maximum Age (Years)":99,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":17,"NCTID":"NCT05635266","Title":"A Single-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives","Organization Study ID":null,"Organization Full Name":"Sanguine Biosciences","Organization Class":"INDUSTRY","Brief Title":"Tissue Repository Providing Annotated Biospecimens for Approved Investigator-directed Biomedical Research Initiatives","Status Verified Date":"2024-05-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Persons 18 to 85 years of age at the date of informed consent.\n* If presenting with a history of a specific condition, the diagnosis is confirmable in the medical record or may be confirmed using other forms of verification including self-reporting.\n* Understands the procedures and requirements of the study by providing written informed consent (or verbal assent if a legally authorized representative will sign the ICF), including consent for authorization for protected health information disclosure.\n\nExclusion Criteria:\n\n* Persons younger than 18 years of age or older than 85 years of age at the date of informed consent.\n* Receipt of blood products 30 days before the study blood draw.\n* Receipt of an investigational (unapproved) drug 30 days before the study blood draw.\n* A confirmable diagnosis of any medical condition that would increase potential phlebotomy risks.\n* Has donated a unit of blood within the last 2 months at the date of informed consent.","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-11-22","Study First Submit QC Date":"2022-11-22","Last Update Submit Date":"2024-05-03","Study First Post Date":"2022-12-02","Last Update Post Date":"2024-05-07","Start Date":"2021-10-26","Primary Completion Date":"2025-10-01","Completion Date":"2025-10-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"To collect, preserve, and/or distribute annotated biospecimens and associated medical data to institutionally approved, investigator-directed biomedical research to discover and develop new treatments, diagnostics, and preventative methods for specific and complex conditions.","Conditions":"Age-Related Macular Degeneration;Allergies;Alpha-Gal Syndrome;Alzheimer Disease;Amyloidosis;Ankylosing Spondylitis;Arthritis;Alopecia Areata;Asthma;Atopic Dermatitis;Autism;Autoimmune Hepatitis;Behcet's Disease;Beta-Thalassemia;Cancer;Celiac Disease;Kidney Diseases;COPD;Crohn Disease;Cystic Fibrosis;Diabetes;Dravet Syndrome;DMD;Fibromyalgia;Graves Disease;Thyroid Diseases;Hepatitis;Hidradenitis Suppurativa;ITP;Leukemia;ALS;Lupus or SLE;Lymphoma;Multiple Sclerosis;Myasthenia Gravis;Heart Diseases;Parkinson Disease;Pemphigus Vulgaris;Cirrhosis;Psoriasis;Schizophrenia;Scleroderma;Sickle Cell Disease;Stroke;Ulcerative Colitis;Vasculitis;Vitiligo","Phases":null,"Enrollment Count":20000,"Primary Outcome Measure":[{"measure": "Biospecimen & Clinical Data Collection", "description": "To collect enough biospecimens and associated clinical data to allow researchers to come to statistically relevant scientific results", "timeFrame": "10 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":85,"Interventions":[{"type": "DIAGNOSTIC_TEST", "name": "Specimen sample", "description": "The study may require a tissue collection and/or a participant survey for participation. Most tissue collected will come from a blood draw; up to 100mL for the health condition group, 60mL for the exceptive condition group, and up to 180mL for the control group (if determined safe for the participant). Participant surveys may involve participant reported outcomes (PROs) or custom participant surveys.", "armGroupLabels": ["Control Group", "Exceptive Condition Group", "Health Condition Group"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":18,"NCTID":"NCT07250737","Title":"Managed Access to Investigational Use of AOC 1044 in Participants With DMD Mutations Amenable to Exon 44 Skipping","Organization Study ID":null,"Organization Full Name":"Avidity Biosciences, Inc.","Organization Class":"INDUSTRY","Brief Title":"Managed Access Program for Del-zota in Participants With DMD Mutations Amenable to Exon 44 Skipping","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"AVAILABLE","Brief Summary":"The purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.","Study Type":"EXPANDED_ACCESS","Eligibility Criteria":"Key Inclusion Criteria\n\nRollover Participants\n\n* Completed Study EXPLORE44-OLE Treatment Period (through W102)\n* No significant tolerability issues with AOC 1044\n\nNew (Non-Rollover) Participants\n\n* Permanently residing in the US and have a US primary health care provider\n* Documented dystrophin gene mutation that is amenable to exon 44 skipping\n* Age 6 or older at the time of consent\n* If previously treated with gene therapy for DMD, treatment and associated immunosuppressive regimen was more than 12 months before consent and in the opinion of the prescriber, participant has had an unsatisfactory treatment response\n\nKey Exclusion Criteria\n\nRollover Participants\n\n• Prescence of any new condition or worsening of existing condition that could affect participant's safety or ability to comply with the program requirements\n\nNew (Non-Rollover) Participants\n\n* Recently treated with or on a clinical study for another investigation drug\n* Serious respiratory or cardiac dysfunction, or nearing end of life\n* Screening laboratory parameters do not meet protocol requirements\n* History of multiple drug allergies or to any component of AOC 1044\n* Participants who discontinued early from the treatment period of EXPLORE44 or EXPLORE44-OLE","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-11-18","Study First Submit QC Date":"2025-11-18","Last Update Submit Date":"2026-03-27","Study First Post Date":"2025-11-26","Last Update Post Date":"2026-03-31","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 purpose of this Managed Access Program is to allow access to delpacibart zotadirsen (AOC 1044) for eligible patients diagnosed with DMD mutations amenable to exon 44 skipping. The patient's Administering Physician should follow the suggested treatment guidelines and comply with all local health authority regulations.","Conditions":"Muscular Disorders, Atrophic;Muscular Diseases;Musculoskeletal Diseases;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, Inborn;Genetic Diseases, X-Linked;Muscular Dystrophies;Muscular Dystrophy, Duchenne","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": "delpacibart zotadirsen", "description": "Del-zota is administered as an IV infusion every 6 weeks. Doses are administered based on body weight.", "otherNames": ["Del-zota", "AOC 1044"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":19,"NCTID":"NCT03067831","Title":"Safety and Efficacy of Purified Autologous Bone Marrow-Derived Stem Cell Therapy for Patients With Duchenne Muscular Dystrophy.","Organization Study ID":null,"Organization Full Name":"Stem Cells Arabia","Organization Class":"OTHER","Brief Title":"Bone Marrow-Derived Autologous Stem Cells for the Treatment of Duchenne Muscular Dystrophy","Status Verified Date":"2020-03-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This study is single arm, single center trial to study the safety and efficacy of bone marrow-derived autologous specific populations of stem cells and mesenchymal stem cells for the treatment of Duchenne Muscular Dystrophy (DMD).","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* Respiratory Distress\n* Acute infections such as Human Immunodeficient Virus/Hepatitis B Virus/Hepatitis C Virus malignancies\n* Acute medical conditions such as respiratory infections, fever, hemoglobin less than 8 bleeding tendency, bone marrow disorder, left ventricular ejection fraction \\< 30%\n* Pregnancy or breastfeeding","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2017-02-25","Study First Submit QC Date":"2017-02-28","Last Update Submit Date":"2020-03-15","Study First Post Date":"2017-03-01","Last Update Post Date":"2020-03-17","Start Date":"2015-09-01","Primary Completion Date":"2021-11-01","Completion Date":"2021-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This study is single arm, single center trial to study the safety and efficacy of bone marrow-derived autologous specific populations of stem cells and mesenchymal stem cells for the treatment of Duchenne Muscular Dystrophy (DMD).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Improvement in muscle strength using Kinetics Muscle testing or MMT", "timeFrame": "12 months"}],"Secondary Outcome Measure":[{"measure": "Brooke and Vignos Scale", "timeFrame": "12 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":25,"Interventions":[{"type": "BIOLOGICAL", "name": "Stem Cells", "description": "Transplantation of purified autologous bone marrow-derived stem cells.", "armGroupLabels": ["Stem Cells"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["26136844", "22131940", "22787400", "22220178"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":20,"NCTID":"NCT02667483","Title":"Phase I/II Study of DS-5141b: Open-label Study of DS-5141b in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Daiichi Sankyo","Organization Class":"INDUSTRY","Brief Title":"Study of DS-5141b in Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2023-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is a phase I/II study to evaluate the safety, tolerability, efficacy, and pharmacokinetic (PK) profile of DS-5141b in patients with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping and to determine the dosage for subsequent studies.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Confirmation of out-of-frame deletion(s) that could be corrected by dystrophin gene exon 45 skipping.\n* Intact muscles of adequate quality for biopsy to allow evaluation of the efficacy of the study drug.\n* Boys aged from 5 years to \\<11 years.\n* Patients able to walk at least 325 meters in the 6-minutes walk test.\n* Glucocorticoid-naive patients, or patients who have used glucocorticoids for at least 6 months prior to enrollment in this study with no dose changes for at least 3 months prior to enrollment.\n\nExclusion Criteria:\n\n* A genetic mutation that can not be expected the expression of dystrophin protein by dystrophin gene exon 45 skipping.\n* A concurrent illness other than DMD that can cause muscle weakness and/or impairment of motor function.\n* Current or history of severe disorder.\n* Left ventricular ejection fraction (LEVF) \\<55%.\n* Corrected QT interval (QTc) \\>0.45 sec.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-01-26","Study First Submit QC Date":"2016-01-28","Last Update Submit Date":"2023-07-28","Study First Post Date":"2016-01-29","Last Update Post Date":"2024-03-07","Start Date":"2015-10-01","Primary Completion Date":"2020-10-20","Completion Date":"2020-10-20","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This is a phase I/II study to evaluate the safety, tolerability, efficacy, and pharmacokinetic (PK) profile of DS-5141b in patients with Duchenne muscular dystrophy (DMD) amenable to exon 45 skipping and to determine the dosage for subsequent studies.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":8,"Primary Outcome Measure":[{"measure": "Number of Participants Reporting at Least One Treatment-emergent Adverse Event (TEAE) In Participants With Duchenne Muscular Dystrophy", "description": "A treatment-emergent adverse event (TEAE) is defined as an adverse event that emerges during treatment having been absent prior to treatment or reemerges during treatment or worsens in severity during treatment.", "timeFrame": "48 Weeks of Part 2-Extension-2"}, {"measure": "Pharmacokinetic Parameter Maximum Concentration (Cmax) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular Dystrophy", "description": "Pharmacokinetic parameters were assessed using non-compartmental methods.", "timeFrame": "Week 48 of Part 2-Extension-2"}, {"measure": "Pharmacokinetic Parameter Area Under the Curve (AUC) Tau of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular Dystrophy", "description": "Pharmacokinetic parameters were assessed using non-compartmental methods.", "timeFrame": "Week 48 of Part 2-Extension-2"}, {"measure": "Pharmacokinetic Parameter Time to Maximum Concentration (Tmax) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Muscular Dystrophy", "description": "Pharmacokinetic parameters were assessed using non-compartmental methods.", "timeFrame": "Week 48 of Part 2-Extension-2"}, {"measure": "Pharmacokinetic Parameter Half-life (T1/2) of DS-5141a (Free Form of DS-5141b) in Participants With Duchenne Dystrophy", "description": "Pharmacokinetic parameters were assessed using non-compartmental methods.", "timeFrame": "Week 48 of Part 2-Extension-2"}, {"measure": "Mean Dystrophin Protein Expression in Muscle Tissue", "timeFrame": "Week 48 of Part 2-Extension-2"}],"Secondary Outcome Measure":[{"measure": "Number of Participants With Exon 45-skipped Dystrophin mRNA Expression in Muscle Tissue Posttreatment", "timeFrame": "Week 48 of Part 2-Extension-2"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":10,"Interventions":[{"type": "DRUG", "name": "DS-5141b", "description": "DS-5141b, Subcutaneous injection", "armGroupLabels": ["DS-5141b"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":21,"NCTID":"NCT01539772","Title":"PITT0112: Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping","Organization Study ID":null,"Organization Full Name":"Cooperative International Neuromuscular Research Group","Organization Class":"NETWORK","Brief Title":"Becker Muscular Dystrophy - A Natural History Study to Predict Efficacy of Exon Skipping","Status Verified Date":"2018-06-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male\n* Age 4 or older\n* Diagnosis of BMD with an in-frame deletion in the dystrophin gene, where the boundaries of the mutations are confirmed.\n\nExclusion Criteria:\n\n• Investigator assessment of inability to comply with protocol","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2012-02-22","Study First Submit QC Date":"2012-02-27","Last Update Submit Date":"2018-06-14","Study First Post Date":"2012-02-28","Last Update Post Date":"2018-06-15","Start Date":"2012-04-01","Primary Completion Date":"2018-08-01","Completion Date":"2018-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This is a multi-center natural history study that will be conducted at participating centers in the Cooperative International Neuromuscular Research Group (CINRG). Following a baseline evaluation, participants will have three follow-up visits over a three-year period. The investigators will characterize the Becker muscular dystrophy phenotype, and correlate specific abnormal dystrophin proteins with the range of clinical outcomes.","Conditions":"Becker Muscular Dystrophy","Phases":null,"Enrollment Count":85,"Primary Outcome Measure":[{"measure": "Strength and function", "timeFrame": "Annual"}, {"measure": "Quality of life", "description": "These questionnaires include:\n\n* Pediatric Quality of Life Inventory (PedsQL)\n* Pediatrics and Adult Neuromuscular module Quality of Life (NeuroQOL)", "timeFrame": "Annual"}, {"measure": "Medical history assessment - ambulation status, medication history, hospitalizations, surgeries, nutrition, fractures, and cardiac tests", "timeFrame": "Annual"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":22,"NCTID":"NCT03917719","Title":"An Open-Label Extension Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Catabasis Pharmaceuticals","Organization Class":"INDUSTRY","Brief Title":"An Open-Label Extension Study of Edasalonexent in Boys With Duchenne Muscular Dystrophy","Status Verified Date":"2020-11-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"The GalaxyDMD study is a global Phase 3, open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Patients who completed CAT-1004-201 or CAT-1004-301 or siblings of these boys from 4-12 years of age (up to 13th birthday) will be enrolled.\n\nEdasalonexent is an orally administered small molecule that inhibits NF-kB, which is a key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"For Patients who Completed CAT-1004-201 or CAT-1004-301:\n\nInclusion Criteria:\n\n* Written consent/assent by patient and/or legal guardian as per regional and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements\n* Completion of either CAT-1004-201 or CAT-1004-301\n\nExclusion Criteria:\n\n* In the Investigator's opinion, unwilling or unable for any reason to complete all study assessments and laboratory tests and comply with scheduled visits, administration of drug, and all other study procedures\n\nFor Siblings of Patients who Completed CAT-1004-201 or CAT-1004-301:\n\nInclusion Criteria:\n\n* Written consent/assent by patient and/or legal guardian as per regional and/or Institutional Review Board (IRB)/Independent Ethics Committee (IEC) requirements\n* A sibling of a patient who completed either CAT-1004-201 or CAT-1004-301\n* Diagnosis of DMD based on a clinical phenotype with increased serum creatine kinase (CK) and documentation of mutation(s) in the dystrophin gene known to be associated with a DMD phenotype\n* Followed by a doctor or medical professional who coordinates Duchenne care on a regular basis and willingness to disclose patient's study participation with medical professionals\n\nExclusion Criteria:\n\n* Use of oral corticosteroids at screening; use of inhaled, intranasal, and topical corticosteroids is permitted\n* Use of another investigational drug, idebenone, or dystrophin-focused therapy within 4 weeks. Exception: Patients who are currently on or plan to initiate treatment with approved oligonucleotide exon-skipping therapies, and expected to continue treatment throughout the study, will be eligible\n* Use of the following within 4 weeks prior to Day 1: immunosuppressive therapy, anticoagulants, cyclosporine, dihydroergotamine, ergotamine, fentanyl, alfentanil, pimozide, quinidine, sirolimus or tacrolimus\n* Use of human growth hormone within 3 months prior to Day 1\n* Other prior or ongoing significant medical conditions","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2019-04-12","Study First Submit QC Date":"2019-04-16","Last Update Submit Date":"2020-11-19","Study First Post Date":"2019-04-17","Last Update Post Date":"2020-11-23","Start Date":"2019-03-14","Primary Completion Date":"2020-10-26","Completion Date":"2020-10-26","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The GalaxyDMD study is a global Phase 3, open-label, treatment extension study to evaluate the safety, tolerability, and durability of effect in long-term dosing of edasalonexent in pediatric patients with a genetically confirmed diagnosis of DMD. Patients who completed CAT-1004-201 or CAT-1004-301 or siblings of these boys from 4-12 years of age (up to 13th birthday) will be enrolled.\n\nEdasalonexent is an orally administered small molecule that inhibits NF-kB, which is a key link between loss of dystrophin and disease pathology and plays a fundamental role in the initiation and progression of skeletal and cardiac muscle disease in DMD.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":130,"Primary Outcome Measure":[{"measure": "Safety and tolerability of long-term treatment with edasalonexent measured by number of treatment-emergent adverse events (TEAEs) and serious adverse events (SAEs)", "timeFrame": "104 Weeks"}],"Secondary Outcome Measure":[{"measure": "Durability of effects of edasalonexent on physical function as measured by the North Star Ambulatory Assessment (NSAA)", "timeFrame": "104 Weeks"}, {"measure": "Durability of effects of edasalonexent on physical function as measured by the 10-meter walk/run test", "timeFrame": "104 Weeks"}, {"measure": "Durability of effects of edasalonexent on physical function as measured by the time to stand from supine", "timeFrame": "104 Weeks"}, {"measure": "Durability of effects of edasalonexent on physical function as measured by the 4-stair climb", "timeFrame": "104 Weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":12,"Interventions":[{"type": "DRUG", "name": "Edasalonexent", "description": "100 mg/kg/day", "armGroupLabels": ["Dose 1"], "otherNames": ["Edasa", "CAT-1004"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":23,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["23197572"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":24,"NCTID":"NCT02814019","Title":"A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids","Organization Study ID":null,"Organization Full Name":"Santhera Pharmaceuticals","Organization Class":"INDUSTRY","Brief Title":"A Phase III Double-blind Study With Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Taking Glucocorticoid Steroids","Status Verified Date":"2021-11-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"The purpose of the study is to assess the efficacy of idebenone in delaying the loss of respiratory function in patients with DMD receiving concomitant glucocorticoid steroids","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Male patients with a 35% ≤ FVC ≤ 80% of predicted value at Screening and at Baseline and who, in the opinion of the investigator are in the respiratory function decline phase.\n2. Minimum 10 years old at Screening.\n3. Signed and dated Informed Consent Form.\n4. Documented diagnosis of DMD (severe dystrophinopathy) and clinical features consistent of typical DMD at diagnosis (i.e. documented delayed motor skills and muscle weakness by age 5 years). DMD should be confirmed by mutation analysis in the dystrophin gene or by substantially reduced levels of dystrophin protein (i.e. absent or \\<5% of normal) on Western blot or immunostaining.\n5. Chronic use of systemic glucocorticoid steroids for DMD related conditions continuously for at least 12 months prior to Baseline without any dose adjustments on a mg/kg basis in the last 6 months (only dose adjustments determined by weight changes are allowed).\n6. Ability to provide reliable FVC values at Screening and Baseline, and reproducible within 15% (relative change) at Baseline compared to Screening.\n7. Patients assessed by the Investigator as willing and able to comply with the requirements of the study, possess the required cognitive abilities and are able to swallow study medication.\n8. Patients who prior to Screening have been immunized with 23-valent pneumococcal polysaccharide vaccine or any other pneumococcal polysaccharide vaccine as per national recommendations, as well as annually immunized with inactivated influenza vaccine.\n\nExclusion Criteria:\n\n1. Symptomatic heart failure (defined as patients with structural heart disease, dyspnea, fatigue and impaired tolerance to exercise; Stage C by the ACCF/AHA guideline or NYHA Classes III-IV) and/or symptomatic ventricular arrhythmias.\n2. Ongoing participation in any other therapeutic trial and/or intake of any investigational drug within 90 days prior to Baseline (only exception allowed is use of Deflazacort in the US as part of the Expanded Access Program, or any approved corticosteroid product in trial for regimen optimization, for which the patient met the inclusion criterion 5).\n3. Ongoing exon-skipping therapy or read-through gene therapy for DMD; previous exon-skipping or read-through gene therapy is allowed if the stop date was more than 6 months prior to Screening.\n4. Planned or expected spinal fusion surgery during the study period (as judged by the Investigator; i.e. due to rapidly progressing scoliosis), previous spinal fusion surgery is allowed if it took place more than 6 months prior to Screening.\n5. Asthma, bronchitis/COPD, bronchiectasis, emphysema, pneumonia or presence of any other non-DMD respiratory illness that affects respiratory function.\n6. Chronic use of beta2-agonists or any use of other bronchodilating/bronchoconstricting medication (inhaled steroids, sympathomimetics, anticholinergics, antihistamines); chronic use is defined as a daily intake for more than 14 days.\n7. Any bronchopulmonary illness that required treatment with antibiotics within 3 months prior to Screening.\n8. Moderate or severe hepatic impairment (use as guidance Child-Pugh class B \\[7 to 9 points\\] or Child-Pugh class C \\[10 to 15 points\\] - see Appendix B) or severe renal impairment (eGFR \\<30 mL/min/1.73 m2).\n9. Prior or ongoing medical condition or laboratory abnormality that in the Investigator's opinion may put the patient at significant risk may confound the study results or may interfere significantly with the patient's participation in the study.\n10. Relevant history of or current drug or alcohol abuse, or use of any tobacco or marijuana products/smoking.\n11. Known individual hypersensitivity to idebenone or to any of the ingredients or excipients of the study medication.\n12. Daytime ventilator assistance (defined as use of any assisted ventilation while awake).\n\nNote: Patients who suffer from a severe, unstable condition including (but not limited to) cancer, auto-immune diseases, hematological diseases, metabolic disorders or immunodeficiencies, and who are at risk of an aggravation unrelated to the study condition, can only be included in the study if accepted in writing by the Sponsor's Senior Clinical Research Physician.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-06-17","Study First Submit QC Date":"2016-06-22","Last Update Submit Date":"2021-11-24","Study First Post Date":"2016-06-27","Last Update Post Date":"2021-12-03","Start Date":"2016-09-01","Primary Completion Date":"2020-12-01","Completion Date":"2020-12-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of the study is to assess the efficacy of idebenone in delaying the loss of respiratory function in patients with DMD receiving concomitant glucocorticoid steroids","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["PHASE3"],"Enrollment Count":255,"Primary Outcome Measure":[{"measure": "Change From Baseline in Forced Vital Capacity percent predicted (FVC %p) at Week 78", "description": "Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by changes in FVC %p from Baseline to Week 78 using hospital based spirometry.", "timeFrame": "78 weeks"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in Percent Predicted Peak Expiratory Flow (PEF %p) at Week 78", "description": "Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by:\n\n\u2022The change from Baseline to Week 78 in PEF %p assessed by hospital-based spirometry measurements", "timeFrame": "78 weeks"}, {"measure": "Change From Baseline in Forced Vital Capacity (FVC) at Week 78", "description": "Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by:\n\n\u2022The time to first 10% decline in FVC (L) during the 78-week treatment period, assessed by hospital-based spirometry measurements", "timeFrame": "78 weeks"}, {"measure": "Change from Baseline in Inspiratory Flow Reserve (IFR) at Week 78", "description": "Delaying the loss of respiratory function in patients with DMD receiving glucocorticoid steroids as measured by:\n\n\u2022The change from Baseline to Week 78 in IFR assessed by hospital-based spirometry measurements", "timeFrame": "78 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":10,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Idebenone 150 mg film-coated tablets", "armGroupLabels": ["idebenone 150 mg film-coated tablets"]}, {"type": "DRUG", "name": "placebo", "armGroupLabels": ["placebo"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["25907158", "27238057", "27571420"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":25,"NCTID":"NCT06114056","Title":"A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"West China Hospital","Organization Class":"OTHER","Brief Title":"A Clinical Study Evaluating the Safety, Tolerability, and Initial Efficacy of Single Intravenous Infusion of JWK007 in Patients With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"This study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in pediatric patients with Duchenne Muscular Dystrophy (DMD).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nParticipants meeting all of the following criteria may be considered for inclusion:\n\n1. Male, aged 5 to 10 years (inclusive).\n2. Diagnosis of Duchenne Muscular Dystrophy (DMD) confirmed through medical history and genetic testing, characterized by a frameshift mutation (deletion or duplication) or a premature stop codon mutation in the DMD gene between exons 18 to 58.\n3. Below-average performance on motor assessment testing.\n4. Ability to cooperate with motor assessment testing.\n5. Tolerance for muscle biopsy under anesthesia with no contraindications for biopsy.\n6. Participants must have been taking a stable dose of oral corticosteroids for at least 12 weeks prior to screening, and the expected dose should remain constant throughout the study, except for adjustments related to changes in body weight.\n\nExclusion Criteria:\n\nParticipants meeting any one of the following criteria are not eligible for inclusion:\n\n1. Active viral infection based on clinical observations.\n2. Signs of cardiomyopathy, including echocardiogram with ejection fraction below 40%.\n3. Serological evidence of HIV infection, or Hepatitis B or C infection.\n4. Diagnosis of (or ongoing treatment for) an autoimmune disease.\n5. Abnormal laboratory values considered clinically significant (GGT \\> 3XULN, bilirubin ≥ 3.0 mg/dL, creatinine ≥ 1.8 mg/dL, Hgb \\< 80 or \\> 180 g/L; WBC \\> 18.5\\*10\\^9/L).\n6. Concomitant illness or requirement for chronic drug treatment that in the opinion of the PI creates unnecessary risks for gene transfer.\n7. Subjects with AAVrh74 neutralizing antibody titers \\> 1:400 as determined by ELISA immunoassay.\n8. Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability.\n9. Severe infection (eg. pneumonia, pyelonephritis, or meningitis) within 4 weeks before gene transfer visit (enrollment may be postponed).\n10. Has received any investigational medication (other than corticosteroids) or exon skipping medications (including ExonDys 51), experimental or otherwise, in the last 6 months prior to screening for this study.\n11. Has had any type of gene therapy, cell based therapy (eg. stem cell transplantation), or CRISPR/Cas9.\n12. Family does not want to disclose patient's study participation with primary care physician and other medical providers","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-10-29","Study First Submit QC Date":"2023-10-29","Last Update Submit Date":"2026-03-15","Study First Post Date":"2023-11-02","Last Update Post Date":"2026-03-17","Start Date":"2024-01-31","Primary Completion Date":"2029-11-13","Completion Date":"2029-11-13","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study is a single-center, single-arm, non-randomized, open-label, non-controlled, dose-escalation, prospective clinical trial designed to assess the safety, tolerability, and preliminary efficacy of JWK007 injection in pediatric patients with Duchenne Muscular Dystrophy (DMD).","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":3,"Primary Outcome Measure":[{"measure": "adverse events", "description": "Adverse events defined as the number of participants with adverse events according CTCAE v5.0", "timeFrame": "5 years"}],"Secondary Outcome Measure":[{"measure": "North Star Ambulatory Assessment", "description": "North Star Ambulatory Assessment (NSAA) is a clinical tool used to assess the motor function and ambulatory capabilities of children and adolescents with neuromuscular disorders like Duchenne muscular dystrophy.", "timeFrame": "5 years"}, {"measure": "Six-Minute Walk Test", "description": "the distance the patient walked in six minutes", "timeFrame": "5 years"}, {"measure": "10-Meter Walk/Run Test", "description": "The time it takes to walk 100 meters", "timeFrame": "5 years"}, {"measure": "creatine kinase", "description": "Changes in circulating levels of CK", "timeFrame": "5 years"}, {"measure": "the expression of micro-dystrophin gene", "description": "Baseline muscle biopsies for dystrophin expression will be performed between -30 and -7 days prior to treatment in all subjects. All subjects will undergo a post-treatment biopsy on day 180. Micro-dystrophin gene expression was quantified (immunofluorescence and Western blot analysis) and compared before and after muscle biopsy.", "timeFrame": "6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":10,"Interventions":[{"type": "BIOLOGICAL", "name": "JWK007 Single intravenous infusion administration", "description": "Each patient receives a single intravenous infusion of JWK007 at a dose of 1.0 \u00d7 10\\^14 vg/kg.", "armGroupLabels": ["JWK007 (AAVM101-\u00b5Dys)"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["31972133", "32539076", "29246900", "30093306", "35598604", "37652974"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":26,"NCTID":"NCT03777319","Title":"A Randomized Open Label Trial of Spironolactone Versus Prednisolone in Corticosteroid-naïve Boys With DMD","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"Spironolactone Versus Prednisolone in DMD","Status Verified Date":"2023-10-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This is a randomized, open-label, pilot clinical trial of spironolactone suspension versus oral prednisolone for use in Duchenne muscular dystrophy. The goals are to determine the safety of 6 months of treatment with spironolactone treatment int he steroid-naive DMD population as well as to determine if either spironolactone or a standard clinical dose of corticosteroids results in equivalent improvement in time to complete the 100 meter timed test (100M).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Duchenne muscular dystrophy (DMD) patients ≥4 to ≤7 years of age\n* Clinical features of DMD that include proximal predominant weakness and/or gait disturbance\n* Presence of a truncating mutation of the DMD gene in the patient or an affected male relative OR a muscle biopsy that demonstrates \\<5% dystrophin in the patient or an affected male relative\n* Normal left ventricular ejection fraction by screening echocardiogram\n* Ability to cooperate for testing\n* No prior treatment with glucocorticoids or vamorolone\n* No concomitant experimental therapies\n\nExclusion Criteria:\n\n* Subject amenable to or currently being treated with eteplirsen, casimersen, or viltolarsen\n* Hyperkalemia at screening\n* History of or ongoing renal failure (elevated creatinine, oliguria, anuria)\n* Hypersensitivity to spironolactone (rash, respiratory distress, arrhythmia, numbness or tingling of extremities)\n* Current treatment with an ACEi\n* Severe peptic ulcer disease or recent gastrointestinal perforations","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2018-12-10","Study First Submit QC Date":"2018-12-13","Last Update Submit Date":"2023-10-20","Study First Post Date":"2018-12-17","Last Update Post Date":"2023-10-23","Start Date":"2018-12-05","Primary Completion Date":"2021-09-27","Completion Date":"2021-11-30","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a randomized, open-label, pilot clinical trial of spironolactone suspension versus oral prednisolone for use in Duchenne muscular dystrophy. The goals are to determine the safety of 6 months of treatment with spironolactone treatment int he steroid-naive DMD population as well as to determine if either spironolactone or a standard clinical dose of corticosteroids results in equivalent improvement in time to complete the 100 meter timed test (100M).","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE1"],"Enrollment Count":2,"Primary Outcome Measure":[{"measure": "Efficacy: Change in Time to Complete a 100 Meter Timed Test.", "description": "The determination of whether spironolactone has similar efficacy to glucocorticoids in improving muscle strength in steroid na\u00efve DMD patients. This will be determined by measuring the time to complete a 100 meter timed test (100M).", "timeFrame": "6 months"}, {"measure": "Safety Will be Monitored Through Regular Review of Electrolytes.", "description": "Electrolytes (Sodium, Potassium, Cloride and Carbon dioxide, mmol/L) will be measured on a monthly basis following initiation of either spironolactone or prednisolone.", "timeFrame": "6 months"}],"Secondary Outcome Measure":[{"measure": "Efficacy: Dynamometry Score", "description": "Secondary outcome measures will be Dynamometry score, which is a summation of maximum voluntary isometric contraction test values for knee flexion, knee extension, elbow flexion, and elbow extension", "timeFrame": "6 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":7,"Interventions":[{"type": "DRUG", "name": "Spironolactone", "description": "Spironolactone will be prescribed for 6 months, after which the family and primary care physician will determine to either remain on spironolactone or transfer to prednisolone.", "armGroupLabels": ["Spironolactone"]}, {"type": "DRUG", "name": "Prednisolone", "description": "Prednisolone will be prescribed for 6 months as the clinical standard of care.", "armGroupLabels": ["Prednisolone"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["18254031", "15811903", "21768542", "24551095", "27822449", "26178166", "27798095", "28279570"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":27,"NCTID":"NCT01254019","Title":"A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"GlaxoSmithKline","Organization Class":"INDUSTRY","Brief Title":"A Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy","Status Verified Date":"2017-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this study is to determine whether GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ambulant subjects with Duchenne muscular dystrophy resulting from a mutation/deletion within the DMD gene, confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation), SCAIP (Single Condition Amplification/Internal Primer) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by GSK2402968-induced DMD exon 51 skipping.\n* Males, aged at least 5 years, and with life expectancy of at least 1 year\n* Able to complete 6MWD test with minimal distance of at least 75m at each predrug visit. In addition, results of 6MWD must be within 20% of each other at each pre-drug visit\n* Receiving glucocorticoids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly for the duration of the study\n* QTc \\<450msec (based on single or average QTc value of triplicate ECGs obtained over a brief recording period), or \\<480 msec for subjects with Bundle Branch Block. Note: QTc may be either QTcB or QTcF, and machine read or manual overread.\n* Subjects, where appropriate, must be willing to use adequate contraception (condoms or abstinence) for the duration of the study and for at least 5 months after the last dose of study drug.\n* Willing and able to comply with all protocol requirements and procedures,\n* Able to give informed assent and/or consent in writing signed by the subject and/or parent(s)/legal guardian (according to local regulations).\n* French subjects: In France, a subject will be eligible for inclusion in this study only if either affiliated to or a beneficiary of a social security category.\n\nExclusion Criteria:\n\n* Any additional missing exon for DMD that cannot be treated with GSK2402968\n* Current or history of liver or renal disease or impairment\n* Acute illness within 4 weeks of the first anticipated administration of study medication which may interfere with study assessments\n* Use of anticoagulants, antithrombotics or antiplatelet agents, previous treatment with investigational drugs, within 6 months of the first administration of study medication; and idebenone or other forms of Coenzyme Q10 within 1 month of the first administration of study medication.\n* Current or anticipated participation in any investigational clinical studies\n* Positive hepatitis B surface antigen, hepatitis C antibody test (if verified via RIBA or PCA testing), or human immunodeficiency virus (HIV) test at screening,\n* Symptomatic cardiomyopathy. If subject has a left ventricular ejection fraction \\<45% at Screening, the investigator should discuss inclusion of subject in the study with the medical monitor,\n* Children in Care. The definition of a Child in Care is a child who has been placed under the control or protection of an agency, organisation, institution or entity by the courts, the government or a government body, acting in accordance with powers conferred on them by law or regulation. The definition of a child in care can include a child cared for by foster parents or living in a care home or institution, provided that the arrangement falls within the definition above. The definition of a child in care does not include a child who is adopted or has an appointed legal guardian.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2010-10-21","Study First Submit QC Date":"2010-12-02","Last Update Submit Date":"2018-08-13","Study First Post Date":"2010-12-06","Last Update Post Date":"2019-01-28","Start Date":"2010-12-02","Primary Completion Date":"2013-06-28","Completion Date":"2013-06-28","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 GSK2402968 is effective in the treatment of ambulant boys with Duchenne muscular dystrophy resulting from a mutation thought to be corrected by exon 51 skipping.","Conditions":"Muscular Dystrophies","Phases":["PHASE3"],"Enrollment Count":186,"Primary Outcome Measure":[{"measure": "Change From Baseline in Muscle Function Using the 6 Minute Walking Distance (6MWD) Test Assessed at Week 48", "description": "During the 6MWD, participants were asked to walk, at their own preferred speed, up and down a fixed distance until they were told to stop after 6 minutes. The participants were warned of the time and were told that they may stop earlier if they feel unable to continue. The total distance walked within 6 minutes (or until the participant stopped in case of early termination of the test), the 6MWD, was recorded in meters as well as any falls. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in the Linearized North Star Ambulatory Assessment (NSAA) Total Score at Week 48", "description": "The NSAA is a functional scale devised from the Hammersmith Scale of Motor Ability specifically for use in ambulant children with Duchenne muscular dystrophy (DMD). It consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). The scale assesses activities required to remain functionally ambulant (e.g. rise from the floor), activities that can be difficult even early in the disease (e.g. standing on heels) and activities that are known to progressively deteriorate over time (stand from a chair, walk). NSAA total score was achieved by adding the responses of all activities, ranging from 0 to 34, with a score of 34 implying normal function and lower score implying more severe symptoms. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48. A positive change from Baseline indicated improvement.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in the 4 Stair Climb (Ascent) Velocity at Week 48", "description": "The participant was asked to ascend four steps. Time was recorded with a stopwatch from the initiation of movement until the participant stood on the fourth step. A flight of steps with handrail was used for this test. Number of stairs ascended per second was calculated as 4 divided by the time to ascend 4 complete stairs. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in the 10-meter Walk/Run Velocity at Week 48", "description": "The participant was instructed to perform the test bare foot. No aids or orthoses were allowed. The participant was asked to traverse a marked 10-meter measured walkway as quickly as he safely could. Time was recorded to one tenth of a second with a stop watch from when his first foot crossed the start line until when the second foot crossed the finish line. If the wall was touched, it was noted how often. Care was taken to ensure that the participant was safe when completing this test. The assessor walked nearby to provide emergency help if needed, but did not support or provide manual assistance to the participant in any way. If the participant could not complete the 10-meter walk, the total distance was recorded. 10 minute walk/run speed was equal to 10 divided by time taken to complete 10 minute walk/run. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in the Timed Function Test Rise From Floor at Week 48", "description": "The participant stood from a standardized supine position as quickly as possible when told to go. Time was recorded with a stopwatch from the initiation of movement until the assumption of upright standing. No aids or orthoses are allowed. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in the 4 Stair Climb (Descent) Velocity at Week 48", "description": "The participant was asked to descend four steps. Time was recorded with a stopwatch from the initiation of movement until the participant stood on the fourth step. A flight of steps with handrail was used for this test. Number of stairs descended per second was calculated as 4 divided by the time to descend 4 complete stairs. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in Muscle Strength (Total Score) at Week 48", "description": "Muscle strength was recorded by handheld myometry using a micro force evaluation testing 2 (FET2) myometer. Upper and lower limb proximal muscles were evaluated including knee flexors, knee extensors, elbow flexors, elbow extensors, shoulder abductors and hip flexors. The muscle strength total score (pounds) was the sum of the 12 individual muscle strength tests. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Kaplan-Meier Estimates for Time to Loss of Ambulation", "description": "All participants were ambulant when entered into the study; however they could have become non-ambulant at some time during the study. The date was recorded and the variable time to loss of ambulation was calculated as: time to loss of ambulation = date of loss of ambulation - date of first dose. Median and interquartile range i.e. 1st and 3rd quartile is presented.", "timeFrame": "Week 48"}, {"measure": "Number of Participants Who Experienced Accidental Falls During 6MWD Assessments at Week 48", "description": "The number of accidental falls occurring during the 6MWD were counted. Data has been presented for the number of participants who experienced accidental falls (from 0 to 1) during the 6MWD assessment.", "timeFrame": "Week 48"}, {"measure": "Change From Baseline in Creatine Kinase Serum Concentrations at Week 48", "description": "Creatine kinase is a muscle-specific enzyme; its level in serum is considered to reflect the extent of muscle damage. In the blood samples drawn to this purpose, the serum level of creatine kinase were measured. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in Pulmonary Function Test Forced Vital Capacity (FVC) and Forced Expiratory Volume in 1 Second (FEV1) at Week 48", "description": "The FEV1 is the volume of air forcefully exhaled in 1 second, whereas the FVC is the volume of air that can be maximally forcefully exhaled using non-invasive spirometry was conducted to determine actual and percentage values for FVC and FEV1. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Number of Participants With Identified Mutation: DMD Exon 51 Skip (Upon Muscle Biopsies) at Week 48", "description": "Biopsies were taken from their tibialis anterior muscle and few were taken from quadriceps. Total muscle ribonucleic acid (RNA) was isolated from muscle tissue sections and was analyzed by reverse transcriptase polymer chain reaction (RT-PCR). RT-PCR analysis focused on the area flanking the targeted exon 51 was performed to detect specific exon 51 skipping in muscle. Depending on the participants mutation different sets of DMD-gene specific RT and PCR primers were used. Sequence analysis was performed on isolated PCR products to confirm specific exon 51 skip band detection.", "timeFrame": "Week 48"}, {"measure": "Change From Baseline in Pediatric Quality of Life (PedsQL) Total Score at Week 48", "description": "PedsQL version 3.0 scale is used to measure pediatric quality of life in children with neuromuscular disorders. The 25-item PedsQL encompasses 3 scales About My/My Childs Neuromuscular Disease (17 items), Communication (3 items), About Our Family Resources (5 items). A 5-point response scale is utilized (where 0=never a problem; 4=almost always a problem). It was assessed both by child and parent. PedsQL total score was calculated by reverse scoring individual items and linearly transforming the score to a 0-100 scale, where higher scores indicated better health-related quality of life. To reverse score individual items, the 0-4 scale items were transformed to a 0-100 scale as follows: 0=100, 1=75, 2=50, 3=25, and 4=0. Total score was then calculated as sum of items divided by number of items answered. Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48. A positive change from Baseline indicated improvement.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Change From Baseline in Pulmonary Function Test Peak Cough Flow (PCF) and Peak Flow (PF) at Week 48", "description": "The PF also called peak expiratory flow rate (PEFR) is a participants maximum speed of expiration, as measured with a peak flow meter, a small, hand-held device used to monitor a participants ability to breathe out air. PCF was measured for participants wearing a nose clip and performing a maximum cough into a pocket peak flow meter. Baseline was defined as participants randomization assessment at Visit 3 (Day 0). Change from Baseline was calculated by subtracting the Baseline value from the value at Week 48.", "timeFrame": "Baseline (Day 0) and Week 48"}, {"measure": "Number of Participants Who Showed Improvement on Clinician Global Impression of Improvement (CGI-I) Scale at Week 48", "description": "The CGI-I is scored based on the clinician's reflection of the participant's current overall clinical condition compared to the overall clinical condition just prior to the initiation of medication use (i.e., the period prior to Randomization). The CGI-I is rated without regard to the clinician's belief that any clinical changes are or are not due to medication and without consideration of the etiology of the symptoms. The CGI-I is measured on a 7-point Likert scale (where 1=very much improved, 2=much improved, 3=minimally improved, 4=no change, 5=minimally worse, 6=much worse, 7=very much worse). The score ranged from 1-7, where lower score indicated more improvement and higher score indicated less improvement.", "timeFrame": "Week 48"}, {"measure": "Change From Baseline in Health Utilities Index (HUI) Scores at Week 48", "description": "A 15-item HUI questionnaire assessed Health-related quality of life (HRQoL). Responses from 15-item HUI were used to quantify HRQoL according to 2 health status classification systems, HUI Mark 2 (HUI2) and HUI Mark 3 (HUI3). HUI2 assessed 7 HRQoL dimensions: sensation, mobility, emotion, cognition, self care, pain and fertility. HUI3 assessed 8 HRQoL dimensions: vision, hearing, speech, ambulation, dexterity, emotion, cognition and pain. Both HUI2 (range from -0.03 to 1.0) and HUI3 (range from -0.36 to 1.0) utility scores were calculated using algorithms incorporating community-derived preference weights. A utility value of 1.0 represented perfect health and a utility value of 0.0 represented death. Lowest possible HUI2 score was -0.03 and for HUI3 score was -0.36, where scores less than 0 represented health states considered worse than death. Change from Baseline was calculated by subtracting Baseline value from Week 48 value. A positive change from Baseline indicated improvement.", "timeFrame": "Baseline (Randomization Visit, Day 0) and Week 48"}, {"measure": "Number of Participants With Adverse Events (AE) and Severe Adverse Events (SAE)", "description": "An AE is any untoward medical occurrence in a clinical investigation participant, temporally associated with the use of a medicinal product, whether or not considered related to the medicinal product. An AE can therefore be any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease (new or exacerbated) temporally associated with the use of a medicinal product. An SAE is any untoward medical occurrence that, at any dose results in death, is life-threatening, requires hospitalization or prolongation of existing hospitalization, results in disability/incapacity, is a congenital anomaly/birth defect.", "timeFrame": "Up to Follow-up (Week 68)"}, {"measure": "Number of Participants With Vital Sign Data for Systolic Blood Pressure (SBP) and Diastolic Blood Pressure (DBP) and Heart Rate (HR) of Potential Clinical Concern (PCC) at Any Visit Post-Baseline", "description": "Blood pressure SBP, DBP and HR were recorded after five minutes of rest in a semi-supine position. The following changes from Baseline (Day 0) in vital signs were considered to be of potential clinical concern: DBP was defined as high (increase from Baseline \\>=20 and \\>=40 millimeters of mercury \\[mmHg\\] and low (decrease from Baseline \\>=20 and \\>=40 mmHg), SBP high (increase from Baseline \\>=10 and \\>=20 mmHg and low (decrease from Baseline \\>=10 and \\>=20 mmHg) and for HR high (increase from Baseline \\>=20 and \\>=40 beats per minute \\[bpm\\] and low (decrease from Baseline \\>=20 and \\>=40 bpm). Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.", "timeFrame": "Up to Week 48"}, {"measure": "Number of Participants With Abnormal-clinically Significant Electrocardiogram (ECG) Findings at Any Visit Post-Baseline", "description": "ECG measurements were carried out and the clinical interpretation of the ECG by the investigator was recorded as normal, abnormal but not clinically significant and abnormal clinically significant. The PCC ranges include, QT interval corrected for heart rate by Bazett's formula (QTcB) or QT interval corrected for heart rate by Fridericia's formula (QTcF) \\>450 milliseconds and any increase from Baseline of QTcB or QTcF. Participants were categorized as abnormal clinically significant based on the investigator's judgment and PCC ranges. Data has been presented for number of participants with abnormal clinically significant findings at any visit post-Baseline.", "timeFrame": "Up to Week 48"}, {"measure": "Number of Participants With Hematology Parameters of PCC at Any Visit Post-Baseline", "description": "Laboratory samples were collected for analysis of hematology parameters. The PCC values for hematology parameters: hematocrit was 1.02 x Upper limit of normal (ULN), for hemoglobin was 1.03 x ULN, for lymphocytes was 0.81 x lower limit of normal (LLN), for platelet count was 0.67 x LLN and 1.57 x ULN, for total neutrophils was 0.83 x LLN, and that for white blood cell count was 0.67 x LLN and value of 1.82 x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline have been presented.", "timeFrame": "Up to Week 48"}, {"measure": "Number of Participants With Coagulation Parameters of PCC at Any Visit Post-Baseline", "description": "Laboratory samples were collected for analysis of coagulation parameters. The PCC values for coagulation parameters activated partial thromboplastin time (aPTT) was 1.5 x ULN and aPTT ratio also known as international normalized ration (INR) was 1.2 x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.", "timeFrame": "Up to Week 48"}, {"measure": "Number of Participants With Clinical Chemistry Parameters of PCC at Any Visit Post-Baseline", "description": "Laboratory samples were collected for analysis of chemistry parameters. The PCC values for chemistry parameters for alanine amino transferase (ALT) plus total bilirubin (TB) was \\>=1.5 x ULN for TB and \\>=2 x ULN for ALT, for albumin was 0.86 x LLN, for asparatate amino transferase (AST) was \\>=2 x ULN, for calcium was 0.91 x LLN and 1.06 x ULN, for glucose was 0.71 x LLN and 1.41 x ULN, for phosphorus was 0.80 x LLN and 1.14 x ULN, for sodium was 0.96 x LLN and 1.03 x ULN, for potassium was 0.86 x LLN and 1.10 x ULN and that for alkaline phosphatase was \\>=2x ULN. Only those parameters for which a value of PCC was reported at any visit post-Baseline is presented.", "timeFrame": "Up to Week 48"}, {"measure": "Number of Participants With Urinalysis Data Outside the Reference Range (>Reference Range High) at Any Visit Post- Baseline", "description": "Urine samples were collected for analysis of abnormal urine parameters. Quantitative examination included the assessment for urine albumin excretion rate, urine alpha-1-microglobulin, urine creatinine excretion-24 hour and urine protein excretion-24 hour. Only those parameters for which a value of \\>reference range high was reported at any visit post-Baseline is presented.", "timeFrame": "Up to Week 48"}, {"measure": "Plasma Concentrations of GSK2402968 Following Subcutaneous Administration", "description": "Blood samples for pharmacokinetic assessment were taken at Week 0 (Randomization) at 0.5, 1, 3 hours post-dose and at Week 8,12, 24, 36 and 47 at pre-dose, and between 1 and 4 hours post-dose. Data has been presented for plasma concentrations of GSK2402968 following subcutaneous administration.", "timeFrame": "Randomization (Week 0 at 0.5, 1 and 3 hours), Week 8 (pre-dose, 1-4 hours), Week 12 (pre-dose, 1-4 hours), Week 24 (pre-dose, 1-4 hours), Week 36 (pre-dose, 1-4 hours), Week 47 (pre-dose, 1-4 hours)"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "GSK2402968 6mg/kg/week", "description": "subcutaneous", "armGroupLabels": ["GSK2402968", "Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["29203355"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":28,"NCTID":"NCT07286565","Title":"Active-NBS Liege - Monitoring the Motor Development of Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified Through Newborn Screening","Organization Study ID":null,"Organization Full Name":"Centre Hospitalier Universitaire de Liege","Organization Class":"OTHER","Brief Title":"Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening","Status Verified Date":"2025-12-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Participants are remotely recruited, and all procedures, including consent, questionnaires, and follow-up visits, are conducted by phone or video conferencing without any hospital visits. Children will use age-appropriate wearable devices at home: MAIJU®, a sensorized garment for non-ambulant infants, and Syde®, an ankle-worn sensor for ambulant children. Data collection includes digital motor endpoints, clinical information, and quality of life (PedsQL). Primary objectives are to validate digital biomarkers of motor development, while secondary objectives include early identification of motor deficits, modeling motor trajectories, and quantifying genotype-related differences. Exploratory analyses will assess gait parameters such as stride velocity 95th centile (SV95C) and compare motor outcomes across genetic profiles and treatment exposure. Risks are minimal, limited to the use of non-invasive sensors with no known side effects.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nGenetically confirmed SMA and avalaible MSNA2 copy number:\n\n* Identified by newborn screening,\n* Identified by family screening, or incidental diagnosis in pre-symptomatic stage\n* Treated (or follow-up possible for patients with 4 SMN2 copies)\n\nGenetically confirmed DMD:\n\n* Identified by newborn screening,\n* Identified by family screening, or incidental diagnosis in pre-symptomatic stage\n* Age \\< 4 years at inclusion\n\nLegal guardian able to provide informed consent\n\nExclusion Criteria:\n\n* Any acute or chronic condition that, in the investigator's opinion, significantly interferes with assessments and/or motor development.\n* Participation in a therapeutic trial.\n* Lack of internet connection.","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-09-05","Study First Submit QC Date":"2025-12-12","Last Update Submit Date":"2025-12-12","Study First Post Date":"2025-12-16","Last Update Post Date":"2025-12-16","Start Date":"2025-12-01","Primary Completion Date":"2028-08-01","Completion Date":"2028-08-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Participants are remotely recruited, and all procedures, including consent, questionnaires, and follow-up visits, are conducted by phone or video conferencing without any hospital visits. Children will use age-appropriate wearable devices at home: MAIJU®, a sensorized garment for non-ambulant infants, and Syde®, an ankle-worn sensor for ambulant children. Data collection includes digital motor endpoints, clinical information, and quality of life (PedsQL). Primary objectives are to validate digital biomarkers of motor development, while secondary objectives include early identification of motor deficits, modeling motor trajectories, and quantifying genotype-related differences. Exploratory analyses will assess gait parameters such as stride velocity 95th centile (SV95C) and compare motor outcomes across genetic profiles and treatment exposure. Risks are minimal, limited to the use of non-invasive sensors with no known side effects.","Conditions":"Spinal Muscular Atrophy (SMA);Duchenne Muscular Dystrophy (DMD)","Phases":["NA"],"Enrollment Count":100,"Primary Outcome Measure":[{"measure": "Digital Mobility Monitoring Compliance", "description": "Measure of participant adherence to wearing the Syde\u00ae device: total recording time.", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Digital Mobility Monitoring Compliance", "description": "Measure of participant adherence to wearing the Syde\u00ae device: number of valid recording days (\u22654 hours)", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Digital Mobility Monitoring Compliance", "description": "Measure of participant adherence to wearing the Syde\u00ae device: time to reach 50 and 180 hours of recording.", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Digital Mobility Monitoring Compliance", "description": "Measure of participant adherence to wearing the MAIJU\u00ae device using total recording time.", "timeFrame": "1 day of recording periods every month over 2 years"}, {"measure": "Walking Pattern Characteristics", "description": "Analysis of walking sequences: maximal walking sequence duration", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Walking Pattern Characteristics", "description": "Analysis of walking sequences: maximal distance walked in a single sequence.", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Walking Pattern Characteristics", "description": "Analysis of walking sequences: maximal 30-minute walking distance.", "timeFrame": "4 weeks of recording periods every 3 months over 2 years"}, {"measure": "Reliability", "description": "Inter Class Correlation (ICC2K) when comparing the first and the second half of recordings that includes more than 100 hours AND more than 2000 steps", "timeFrame": "Baseline, 1 year, 2 years."}, {"measure": "Group Differences in Digital Variables", "description": "Comparison of digital mobility metrics across subgroups defined by the number of SMN2 copies (SMA patients) and age's symptom appearance with\n\n1. Patients with SMA symptoms at treatment initiation\n2. Patients with 2 copies of SMN2 and no symptoms at treatment initiation\n3. Patients with 3 copies of SMN2 and no symptoms at treatment initiation\n4. Patients with 4 copies of SMN2\n5. Healthy controls", "timeFrame": "Age 2, 3 and 4 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":[{"type": "DEVICE", "name": "MAIJU", "description": "A jumpsuit equipped with motion sensors for detailed assessment of motor development and postural changes. Developed by the University of Helsinki, it enables remote evaluation of infants and their motor behavior. The device has been extensively validated in healthy infants and those with cerebral palsy", "armGroupLabels": ["Patient with Duchenne muscular disease", "Patient with spinal muscular atrophy"]}, {"type": "DEVICE", "name": "Syde", "description": "The Syde\u00ae is a Class I medical device, CE-marked (compliant with European Regulation 2017/745) and manufactured by Sysnav (Vernon, France). The Syde\u00ae measures various gait parameters to assess motor abilities. It enabled the identification of SV95C in Duchenne muscular dystrophy (DMD), which became the first qualified primary endpoint in DMD, and the first digital outcome qualified by a regulatory agency. Data have been collected in about thirty DMD children under 4 years old and in an age-matched control population. These data demonstrated feasibility, reliability, and sensitivity to change in children from controls as soon as walking is acquired.", "armGroupLabels": ["Patient with Duchenne muscular disease", "Patient with spinal muscular atrophy"]}, {"type": "OTHER", "name": "Questionnaires", "description": "Parents will complete a specific questionnaire covering their child's medical history;", "armGroupLabels": ["Patient with Duchenne muscular disease", "Patient with spinal muscular atrophy"]}, {"type": "OTHER", "name": "PedsQL Questionnaire", "description": "Quality-of-life questionnaire", "armGroupLabels": ["Patient with Duchenne muscular disease", "Patient with spinal muscular atrophy"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":29,"NCTID":"NCT03611244","Title":"Prevention of Scoliosis in Patients With Duchenne Muscular Dystrophy Using Portable Seat Device Devised to Maintain Lumbar Lordosis : 5 Year Follow up Study","Organization Study ID":null,"Organization Full Name":"Seoul National University Hospital","Organization Class":"OTHER","Brief Title":"Prevention of Scoliosis in Patients With Duchenne Muscular Dystrophy Using Portable Seat Device","Status Verified Date":"2018-09-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This study will be conducted without blind method. The portable seat device devised to maintain lumbar lordosis will be made within 1 year after the loss of ambulation in the participants with Duchenne muscular dystrophy with prospective design.\n\nIn the control group, the presence of scoliosis will be calculated 5 years after the loss of ambulation in participants with Duchenne muscular dystrophy through analysis of retrospective medical records who had not been applied the portable seat device.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Patients with the diagnosis of Duchenne muscular dystrophy diagnosed by genetic study were included.\n\n  1. Within 1 year after loss of ambulation (Vignos scale 7 points or more)\n  2. Condition without scoliosis\n  3. Conditions that do not have physical (eg, cerebral palsy) and mental (eg, moderate or higher intellectual disability) comorbid conditions that will affect the use of postural seat device.\n\nExclusion Criteria:\n\n1. Patients who do not agree to participate in this study\n2. Patients not taking steroids\n3. Patient with scoliosis","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2018-07-25","Study First Submit QC Date":"2018-08-01","Last Update Submit Date":"2018-09-15","Study First Post Date":"2018-08-02","Last Update Post Date":"2018-09-18","Start Date":"2018-08-07","Primary Completion Date":"2024-12-01","Completion Date":"2024-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study will be conducted without blind method. The portable seat device devised to maintain lumbar lordosis will be made within 1 year after the loss of ambulation in the participants with Duchenne muscular dystrophy with prospective design.\n\nIn the control group, the presence of scoliosis will be calculated 5 years after the loss of ambulation in participants with Duchenne muscular dystrophy through analysis of retrospective medical records who had not been applied the portable seat device.","Conditions":"Scoliosis Neuromuscular;Duchenne Muscular Dystrophy;Lordosis Lumbar","Phases":["NA"],"Enrollment Count":98,"Primary Outcome Measure":[{"measure": "Incidence of scoliosis", "description": "Frequency of scoliosis more than 10 degrees on spine x-ray on supine position", "timeFrame": "5 years after loss of ambulation"}],"Secondary Outcome Measure":[{"measure": "Incidence of scoliosis", "description": "Comparison of cobb's angle on spine x-ray on supine position", "timeFrame": "\"Day 0\", \"Month 6\" \"Month 12\" \"Month 18\" \"Month 24\" \"Month 30\" \"Month 36\" \"Month 42\" \"Month 48\" \"Month 54\" \"Month 60\""}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":15,"Interventions":[{"type": "DEVICE", "name": "Portable seat device devised to maintain lumbar lordosis", "description": "The posterior lumbar spine pads are used to maintain lumbar lordosis and fix it with the shoulder strap so that the hip does not slip forward (so that it does not become a sacral sitting posture).\n\nThe seat is equipped with a 5 cm air filled villus cushion to relieve pressure on the ischial tuberosity when sitting for a long time. The portable seat device can be moved so that the DMD can sit on the device even when sitting in a wheelchair or a chair for home, school, or outdoors, so that the lumbar lordosis can be constantly maintained.", "armGroupLabels": ["Experimental group"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":30,"NCTID":"NCT07038824","Title":"A 2-Part, Randomized, Double-Blind, Placebo-Controlled Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping With an Initial Multiple Ascending Dose Part A to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ENTR-601-45, Followed by Part B to Evaluate the Safety and Efficacy of ENTR-601-45 (ELEVATE-45)","Organization Study ID":null,"Organization Full Name":"Entrada Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping to Evaluate the Safety and Efficacy of ENTR-601-45","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"This is a study of the investigational medicine ENTR-601-45 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition. The researchers want to: Test how safe ENTR-601-45 is, learn about any side effects, and look at the potential positive effects of ENTR-601-45, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-45 and placebo are both called study treatments.\n\nThe study has 2 parts: Part A: to evaluate if ENTR-601-45 is safe and to determine the best dose of ENTR-601-45 for Part B. Part B: to further evaluate the effect and safety of ENTR-601-45 at the dose determined in Part A. Participants will be able to roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated.\n\nParticipants will:\n\n* Receive study treatment in the form of multiple intravenous (IV) infusions (slow injection) into a vein over the course of several weeks in Part A and in Part B\n* Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, muscle biopsies and exercise tests. Participants will have a muscle biopsy at the beginning of their participation and after their last dose to allow researchers to compare whether there have been changes in the muscle as a result of the study drug.\n\nParticipants are allowed to continue receiving their standard of care therapy for DMD during the study, as long as their health remains stable.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Genetic diagnosis of DMD and confirmed pathologic variant in the dystrophin gene amenable to exon 45 skipping as reviewed by a central genetic counselor.\n2. Assigned male at birth with clinical signs compatible with Duchenne muscular dystrophy as determined by the investigator.\n3. Part A: 4-20 years of age, inclusive.\n4. Ambulatory Status Part A: ambulatory with a Performance of the Upper Limb v2.0 (PUL 2.0) Entry as per protocol at Screening.\n5. Adequate muscle for obtaining tissue biopsy as assessed by the investigator.\n6. Other protocol-defined criteria apply.\n\nExclusion Criteria:\n\n1. Any significant concomitant medical condition that might interfere with the ability to comply with protocol requirements.\n2. Has an acute illness within 4 weeks prior to the first dose of study drug which may interfere with study measurements or jeopardize participant's safety.\n3. Use of the following medications :\n\n   1. Prior or current treatment with any exon skipping therapy within the previous 12 months\n   2. Prior or current treatment with any gene therapy\n   3. Use of anti-coagulants, anti-thrombotics, or anti-platelet agents from 30 days prior to screening and until the end of the study\n   4. Use of an immunosuppressant (other than systemic or oral corticosteroid for DMD condition) from 30 days prior to screening until the end of the study.\n   5. Treatment with a histone deacetylase (HDAC) inhibitor, including (but not limited to) givinostat from 30 days prior to screening until the end of the study\n4. Laboratory abnormalities.\n5. Daytime ventilator dependence or any use of invasive mechanical ventilation via tracheostomy.\n6. Has an abnormal electrocardiogram (ECG) reading assessed as clinically significant by the investigator, and/or a QT interval with Fridericia correction method (QTcF) \\>450 msec at Screening or prior to the first dose of study drug on Day 1.\n7. Received any experimental or investigational drug, etc. within 3 months prior to first dose or within 5 half-lives (whichever is longer).\n8. Other protocol-defined criteria apply.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-05-01","Study First Submit QC Date":"2025-06-17","Last Update Submit Date":"2026-03-06","Study First Post Date":"2025-06-26","Last Update Post Date":"2026-03-09","Start Date":"2025-08-30","Primary Completion Date":"2029-03-01","Completion Date":"2029-03-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a study of the investigational medicine ENTR-601-45 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition. The researchers want to: Test how safe ENTR-601-45 is, learn about any side effects, and look at the potential positive effects of ENTR-601-45, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-45 and placebo are both called study treatments.\n\nThe study has 2 parts: Part A: to evaluate if ENTR-601-45 is safe and to determine the best dose of ENTR-601-45 for Part B. Part B: to further evaluate the effect and safety of ENTR-601-45 at the dose determined in Part A. Participants will be able to roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated.\n\nParticipants will:\n\n* Receive study treatment in the form of multiple intravenous (IV) infusions (slow injection) into a vein over the course of several weeks in Part A and in Part B\n* Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, muscle biopsies and exercise tests. Participants will have a muscle biopsy at the beginning of their participation and after their last dose to allow researchers to compare whether there have been changes in the muscle as a result of the study drug.\n\nParticipants are allowed to continue receiving their standard of care therapy for DMD during the study, as long as their health remains stable.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["PHASE1", "PHASE2"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number of participants with Treatment Emergent Adverse Events (TEAEs) according to study protocol (Part A and OL Period).", "description": "Safety will be assessed by monitoring adverse events, physical examination, vital signs and clinical laboratory tests.", "timeFrame": "From baseline through End of Study (up to 62 weeks)."}],"Secondary Outcome Measure":[{"measure": "Plasma, muscle, and urine concentration of ENTR-601-45 and its final metabolite (Part A and OL Period)", "timeFrame": "From baseline through End of Study (Up to 62 weeks)."}, {"measure": "Change from baseline to End of Part A in dystrophin by Western blot from muscle biopsy (Part A).", "timeFrame": "Baseline, End of Study (Up to 25 weeks)"}, {"measure": "Change from baseline to End of Part A in dystrophin expression and localization from muscle biopsy (Part A).", "timeFrame": "Baseline, End of Study (Up to 25 weeks)"}, {"measure": "Percent change from baseline to end of Part A in exon 45 skipping measured in muscle biopsy (Part A)", "timeFrame": "Baseline, End of Study (Up to 25 weeks)"}, {"measure": "Anti-drug antibody (ADA) and anti-dystrophin antibody in serum (Part A and OL Period)", "timeFrame": "From baseline through End of Study (Up to 62 weeks)."}, {"measure": "Change from baseline to End of OL Period in 10-Meter Walk/Run (10MWR) (Part A and OL Period).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Timed Rise from Floor (Part A and OL Period).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Timed 4-Stair Climb (4SC) (Part A and OL Period).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in 95th centile Stride Velocity (SV95C) (Part A and OL Period).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in North Star Ambulatory Assessment (NSAA) (Part A and OL Period)", "description": "Ordinal scale with 0 as the minimum score and 34 as the maximum score (higher score - better outcome).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Performance of the Upper Limb v2.0 (PUL 2.0) (Part A and OL Period).", "description": "Ordinal scale with 0 as the minimum score and 42 as the maximum score (higher score - better outcome).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":20,"Interventions":[{"type": "DRUG", "name": "ENTR-601-45", "description": "intravenous infusion", "armGroupLabels": ["ENTR-601-45"]}, {"type": "DRUG", "name": "ENTR-601-45 - matching placebo", "description": "intravenous infusion", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":31,"NCTID":"NCT01125709","Title":"Comparative Study of Clinical Endpoint in DMD: HHM vs. CQMS","Organization Study ID":null,"Organization Full Name":"Cooperative International Neuromuscular Research Group","Organization Class":"NETWORK","Brief Title":"Comparative Study of Clinical Endpoint in DMD: Handheld Myometry (HHM) Versus CINRG Quantitative Measurement System (CQMS)","Status Verified Date":"2013-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment. This study will be performed at six participating sites in the Cooperative International Neuromuscular Research Group (CINRG).","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Participants should meet the following criteria:\n\n1. Confirmed clinical and molecular diagnosis of DMD\n2. 6- 18 years of age\n3. Ability to follow 2 step instructions\n4. Ability to transfer to and from the wheelchair-mat with moderate assistance defined as no greater than 75% assistance.\n5. Signed informed consent of parental or legal guardian(s) is required for participants. Assent from children 7-18 years old may also required.\n\nExclusion Criteria:\n\nParticipants must confirm:\n\n1. No Surgical procedures were performed ≤ 8 weeks before study procedures.\n2. No musculoskeletal injuries were experienced ≤ 8 weeks before study procedures.\n3. Investigator assessment that patient or parent/legal guardian are not willing or able to comply with study procedures.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2010-05-17","Study First Submit QC Date":"2010-05-17","Last Update Submit Date":"2013-01-10","Study First Post Date":"2010-05-18","Last Update Post Date":"2013-01-11","Start Date":"2010-01-01","Primary Completion Date":"2010-06-01","Completion Date":"2010-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The aim of the proposed research is to compare two commonly used pediatric strength testing measures: handheld myometry (HHM) and CINRG Quantitative Measurement System (CQMS), with the goal of identifying a sensitive and valid tool for measuring muscle strength in children with DMD. The data obtained from this study will be used to make recommendations for strength measurement endpoints in prospective muscular dystrophy trials and provide more reliable and accurate recommendations in the clinic for strength assessment. This study will be performed at six participating sites in the Cooperative International Neuromuscular Research Group (CINRG).","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "Compare the inter and intra rater reliability of HHM and CQMS by measuring Elbow and Knee Flexor/Extensor Strength in children ages 6-18 diagnosed with DMD tested by experienced clinical evaluators in both HHM and CQMS.", "description": "Muscle groups will be tested in a standardized order 1. Knee extension 2. Knee flexion 3. Elbow Flexion 4. Elbow extension with all tests sequencing following a right to left pattern. This will reduce assessment bias and the impact of muscle fatigue per muscle group. Study participants are randomized to two different sequences of four assessments, one sequence performed on one testing day (Visit 1) and another on a different testing day (Visit 2).", "timeFrame": "two-day visit"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":["http://www.cinrgresearch.org"],"On Roche Website":false,"Roche Website URL":null},{"_id":32,"NCTID":"NCT02470962","Title":"Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University Children's Hospital, Zurich","Organization Class":"OTHER","Brief Title":"Cardiac Involvement in Patients With Duchenne/Becker Muscular Dystrophy","Status Verified Date":"2025-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study evaluates the function of the heart in young patients with muscular dystrophy type Duchenne or Becker. Participants have their hearts examined at regular intervals by ultrasound (echocardiography) and cardiac magnetic resonance imaging.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Boys aged 8 to 18 years with DMD/BMD confirmed genetically or by muscle biopsy\n* Informed consent\n\nExclusion Criteria:\n\n* Other clinically significant concomitant disease states (e.g., renal failure)\n* Inability to follow the procedures of the study, e.g. due to language problems, psychological disorders, dementia, etc. of the participant or his/her parents or legal caregivers,\n* Inability to lie still for the duration of the imaging procedures (approximately 45 minutes each for echocardiography and CMR)\n* MR-incompatible implanted or accidentally incorporated metal device or claustrophobia that prohibits use of magnetic resonance imaging","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2015-06-10","Study First Submit QC Date":"2015-06-11","Last Update Submit Date":"2025-03-17","Study First Post Date":"2015-06-12","Last Update Post Date":"2025-03-20","Start Date":"2015-06-01","Primary Completion Date":"2022-03-22","Completion Date":"2022-03-22","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This study evaluates the function of the heart in young patients with muscular dystrophy type Duchenne or Becker. Participants have their hearts examined at regular intervals by ultrasound (echocardiography) and cardiac magnetic resonance imaging.","Conditions":"Duchenne / Becker Muscular Dystrophy","Phases":null,"Enrollment Count":59,"Primary Outcome Measure":[{"measure": "Left ventricular ejection fraction", "timeFrame": "3 years per patient"}],"Secondary Outcome Measure":[{"measure": "Quantification of fibrosis by LGE/T1 mapping", "timeFrame": "3 years per patient"}, {"measure": "NT-proBNP", "timeFrame": "3 years per patient"}],"Healthy Volunteers":true,"Minimum Age (Years)":8,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "Observation", "description": "Observation by serial echocardiography with extended techniques and cardiac magnetic resonance imaging", "armGroupLabels": ["Children without heart disease"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":33,"NCTID":"NCT07172971","Title":"duCHennE caRdiomyopathy mItigation Sglt2 inHibitor","Organization Study ID":null,"Organization Full Name":"Indiana University","Organization Class":"OTHER","Brief Title":"Sodium/Glucose Cotransporter-2 Inhibitors (SGLT2i) Therapy in Duchenne Cardiomyopathy","Status Verified Date":"2025-12-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"This is a pharmacokinetic study (PK Study) to better understand empagliflozin dosing in pediatric Duchenne muscular dystrophy patients. Empagliflozin is currently used off-label in this population due to the mortality benefits seen in adult cardiomyopathy and heart failure. Investigators will perform PK studies in DMD patients of various ages and weights to better understand the PK profile (absorption, distribution, metabolism, excretion) and dosing to better treat Duchenne cardiomyopathy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Clinical phenotype of DMD confirmed with muscle biopsy or genotype\n* Presence of late gadolinium enhancement (LGE) imaging by CMR\n* Either normal or mildly depressed systolic function (LVEF\\>40%)\n* ≥8 years old and ≤18 years old\n\nExclusion Criteria:\n\n* Current investigational therapy that may affect cardiovascular function\n\n  * Additional genetic or congenital abnormality that may affect cardiovascular function or progression\n  * Contraindication to or inability to undergo CMR\n  * Symptomatic heart failure\n  * History of ketoacidosis or hypersensitivity to SGLT2i therapy\n  * Type 1 diabetes\n  * Renal disease or history of frequent urinary tract infections or genitourinary skin infections","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-08-07","Study First Submit QC Date":"2025-09-08","Last Update Submit Date":"2025-12-22","Study First Post Date":"2025-09-15","Last Update Post Date":"2025-12-24","Start Date":"2026-02-01","Primary Completion Date":"2027-08-01","Completion Date":"2028-02-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a pharmacokinetic study (PK Study) to better understand empagliflozin dosing in pediatric Duchenne muscular dystrophy patients. Empagliflozin is currently used off-label in this population due to the mortality benefits seen in adult cardiomyopathy and heart failure. Investigators will perform PK studies in DMD patients of various ages and weights to better understand the PK profile (absorption, distribution, metabolism, excretion) and dosing to better treat Duchenne cardiomyopathy.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["PHASE1"],"Enrollment Count":10,"Primary Outcome Measure":[{"measure": "Medication dose", "description": "DMD patients will be given different doses of medication to better understand the most appropriate dosing of medication in this rare disease population. Because age and weight can impact how a DMD patient absorbs and metabolizes medication, the study will include DMD patients of various ages and weights. This includes giving a dose of medication and measuring drug levels in blood over a 24 hour period of time.", "timeFrame": "From enrollment to 12 month analysis"}],"Secondary Outcome Measure":[{"measure": "Medication absorption in blood", "description": "DMD patients will be given different doses of medication to better understand the most appropriate dosing of medication in this rare disease population. Because age and weight can impact how a DMD patient absorbs medication, the study will include DMD patients of various ages and weights. This includes giving a dose of medication and measuring drug levels in blood over a 24 hour period of time.", "timeFrame": "Enrollment to 12 month analysis"}, {"measure": "Medication Excretion or Elimination from blood", "description": "DMD patients will be given different doses of medication to better understand the most appropriate dosing of medication in this rare disease population. Because age and weight can impact how a DMD patient absorbs and excretes or eliminates a medication, the study will include DMD patients of various ages and weights. This includes giving a dose of medication and measuring drug levels in blood over a 24 hour period of time.", "timeFrame": "Enrollment to 12 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":8,"Maximum Age (Years)":18,"Interventions":[{"type": "DRUG", "name": "SGLT-2 inhibitor", "description": "SGLT-2 inhibitor will be given once daily by mouth", "armGroupLabels": ["Dosing"]}, {"type": "DRUG", "name": "SGLT2 inhibitor", "description": "SGLT-2 inhibitor will be given once daily by mouth", "armGroupLabels": ["Pharmacokinetics"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":34,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"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},{"_id":35,"NCTID":"NCT02484560","Title":"Efficacy of Allogenic Mesenchymal Stem Cell Therapy in Ambulatory and Non-ambulatory Children With Duchenne Muscular Dystrophy - Phase 1-2","Organization Study ID":null,"Organization Full Name":"University of Gaziantep","Organization Class":"OTHER","Brief Title":"Efficacy of Stem Cell Therapy in Ambulatory and Non-ambulatory Children With Duchenne Muscular Dystrophy - Phase 1-2","Status Verified Date":"2015-06-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Duchenne Muscular Dystrophy (DMD) is a X-linked genetic disorder primarily affecting males, resulting in an absence of dystrophin which ultimately leads to progressive muscle degeneration. Patients with DMD progressively lose functional abilities of movement, breath, and eventually the ability to circulate blood. Currently, there is no cure for DMD, although several strategies are being tested for treatment, none have yet proven to be sufficient. Children with DMD are generally divided into two groups based on severity or progression of the disease, non-ambulatory and ambulatory. Ambulatory patients are capable of walking independently while non-ambulatory patients cannot walk independently.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ambulatory and Non-ambulatory patients diagnosed with DMD that is proven both clinically and genetically and are between 5-20 years old who need partial respiratory support daily. Patients with less than or equal to stage 1 NIH, cardiac, liver, and renal function. Patients must also not present any indication of cancer, allergic disease, nor bleeding diathesis.\n\nExclusion Criteria:\n\n* Patients who require full respiratory support. Patients have stage II NIH or greater, cardiac, liver, and renal function. Patients present with signs of symptoms of cancer, allergic disease, or bleeding diathesis.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2015-06-16","Study First Submit QC Date":"2015-06-24","Last Update Submit Date":"2015-06-30","Study First Post Date":"2015-06-29","Last Update Post Date":"2015-07-01","Start Date":"2015-06-01","Primary Completion Date":"2015-12-01","Completion Date":"2015-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Duchenne Muscular Dystrophy (DMD) is a X-linked genetic disorder primarily affecting males, resulting in an absence of dystrophin which ultimately leads to progressive muscle degeneration. Patients with DMD progressively lose functional abilities of movement, breath, and eventually the ability to circulate blood. Currently, there is no cure for DMD, although several strategies are being tested for treatment, none have yet proven to be sufficient. Children with DMD are generally divided into two groups based on severity or progression of the disease, non-ambulatory and ambulatory. Ambulatory patients are capable of walking independently while non-ambulatory patients cannot walk independently.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":10,"Primary Outcome Measure":[{"measure": "Degree of improvement in patients with Duchenne Muscular Dystrophy after stem cell therapy treatment administered using Northstar Ambulatory Assessment, Magnetic Resonance Imaging & Spectroscopy, muscle strength assessment equipment, and a questionnaire.", "description": "Tests Used in Assement:\n\nNorthstar ambulatory assessment CHAQ (Child Health Assessment Questionnaire) MRI/MRS Muscle Strength Assessment - Myogrip, Myopinch, and Moviplate", "timeFrame": "12 Months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":8,"Maximum Age (Years)":14,"Interventions":[{"type": "DRUG", "name": "Biological: Umbilical Cord Based Allogenic Mesenchymal Stem Cell", "armGroupLabels": ["Ambulatory Patients", "Non-Ambulatory Patients"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":36,"NCTID":"NCT01826487","Title":"A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)","Status Verified Date":"2020-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ability to provide written informed consent (parental/guardian consent if applicable)/assent per local requirements.\n* Phenotypic evidence of dystrophinopathy based on the onset of characteristic clinical symptoms or signs (for example; proximal muscle weakness, waddling gait, and Gowers' maneuver) by 6 years of age, an elevated serum creatinine kinase level, and ongoing difficulty with walking.\n* Documentation of the presence of a nonsense point mutation in the dystrophin gene as determined by gene sequencing from a laboratory certified by the College of American Pathologists (CAP), the Clinical Laboratory Improvement Act/Amendment (CLIA) or an equivalent organization.\n* Documentation that a blood sample has been drawn for confirmation of the presence of a nonsense mutation in the dystrophin gene.\n* Use of systemic corticosteroids (prednisone, prednisolone, or deflazacort) for a minimum of 6 months immediately prior to start of study treatment, with no significant change in dosage or dosing regimen (not related to body weight change) for a minimum of 3 months immediately prior to start of study treatment and a reasonable expectation that dosage and dosing regimen will not change significantly for the duration of the study.\n* Valid Screening 6-minute walk distance (6MWD) greater than or equal to (≥) 150 meters. Valid Screening 6MWD must have been less than or equal to (≤) 80% of predicted for age and height.\n* Results of the 2 Baseline 6MWD results must be determined as valid and results of the Day 2 Baseline 6MWD must be within 20% of the Day 1 Baseline 6MWD.\n* Baseline 6MWD (mean of valid Day 1 and Day 2 values) must be no more than a 20% change from the valid Screening 6MWD.\n* Confirmed screening laboratory values within the central laboratory ranges (hepatic, renal, and serum electrolyte parameters).\n* Willingness to abstain from sexual intercourse or employ an approved method of contraception during the period of study drug administration and 6-week follow-up period.\n* Willingness and ability to comply with scheduled visits, drug administration plan, study procedures, laboratory tests, and study restrictions.\n\nExclusion Criteria:\n\n* Treatment with systemic aminoglycoside antibiotics within 3 months prior to start of study treatment.\n* Initiation of systemic corticosteroids therapy within 6 months prior to start of study treatment.\n* Change in systemic corticosteroid therapy (for example; change in type of drug, dose modification not related to body weight change, schedule modification, interruption, or reinitiation) within 3 months prior to start of study treatment.\n* Any change (initiation, change in type of drug, dose modification, schedule modification,interruption, discontinuation, or reinitiation) in prophylaxis/treatment for congestive heart failure (CHF) within 3 months prior to start of study treatment.\n* Ongoing use of coumarin-based anticoagulants (for example; warfarin), phenytoin, tolbutamide, or paclitaxel.\n* Prior therapy with ataluren.\n* Known hypersensitivity to any of the ingredients or excipients of the study drug.\n* Exposure to another investigational drug within 3 months prior to start of study treatment.\n* History of major surgical procedure within 6 weeks prior to start of study treatment.\n* Ongoing immunosuppressive therapy (other than corticosteroids).\n* Ongoing participation in any clinical trial (except for studies specifically approved by PTC Therapeutics).\n* Expectation of major surgical procedure (for example; scoliosis surgery) during the 12-month treatment period of the study.\n* Requirement for daytime ventilator assistance.\n* Uncontrolled clinical symptoms and signs of CHF (American College of Cardiology/American Heart Association Stage C or Stage D).\n* Prior or ongoing medical condition (for example; concomitant illness, psychiatric condition, behavioral disorder, alcoholism, drug abuse), medical history, physical findings (for example; lower limb injury that may affect 6MWT performance), electrocardiogram (ECG) findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the participant, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2013-03-26","Study First Submit QC Date":"2013-04-03","Last Update Submit Date":"2020-07-17","Study First Post Date":"2013-04-08","Last Update Post Date":"2020-08-04","Start Date":"2013-03-26","Primary Completion Date":"2015-08-20","Completion Date":"2015-08-20","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Dystrophinopathy is a disease continuum that includes Duchenne muscular dystrophy, which develops in boys. It is caused by a mutation in the gene for dystrophin, a protein that is important for maintaining normal muscle structure and function. Loss of dystrophin causes muscle fragility that leads to weakness and loss of walking ability. A specific type of mutation, called a nonsense (premature stop codon) mutation is the cause of dystrophinopathy in approximately 10-15 percent (%) of boys with the disease. Ataluren is an orally delivered, investigational drug that has the potential to overcome the effects of the nonsense mutation. The main goal of this Phase 3 study is to evaluate the effect of ataluren on walking ability. The effect of ataluren on physical function, quality of life, and activities of daily living will be evaluated. This study will also provide additional information on the long-term safety of ataluren.","Conditions":"Muscular Dystrophy, Duchenne;Muscular Dystrophies;Muscular Disorders, Atrophic;Muscular Diseases;Musculoskeletal Diseases;Neuromuscular Diseases;Nervous System Diseases;Genetic Diseases, X-Linked;Genetic Diseases, Inborn","Phases":["PHASE3"],"Enrollment Count":230,"Primary Outcome Measure":[{"measure": "Change From Baseline in 6MWD at Week 48", "description": "The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Participants with confirmed loss of ambulation at a particular visit were assigned a 6MWD result of 0. Baseline and Week 48 6MWD values are each the average of two valid 6MWD values, or a single available value if one was missing.", "timeFrame": "Baseline, Week 48"}],"Secondary Outcome Measure":[{"measure": "Time to 10 Percent (%) Persistent Worsening in 6MWD", "description": "The 6MWD test is a non-encouraged test performed in a 30 meters long flat corridor, where the participant is instructed to walk as far as possible, back and forth around two cones, with the permission to slow down, rest, or stop if needed. Ambulation was assessed via the 6MWD test following standardized procedures by measuring the 6MWD in meters. Participants were not permitted to use assistive devices (walker, long leg braces, or short leg braces) during the 6MWD test. Time to 10% persistent worsening in 6MWD was defined as the last time that 6MWD was not 10% worse compared with baseline. Time to 10% persistent worsening in 6MWD \\<300 meters, \\>=300 to 400 meters, and \\>=400 meters was evaluated. For participants who did not have 10% 6MWD worsening or who were removed from study, time to 10% 6MWD worsening was censored at the time of the last 6MWD test. Participants who became non-ambulatory were considered to have 10% worsening.", "timeFrame": "Baseline to Week 48"}, {"measure": "Change From Baseline in Time to Walk/Run 10 Meters at Week 48", "description": "During the test for walking/running 10 meters, the method of walk/run used by the participant was categorized as follows: 1. Unable to walk independently; 2. Unable to walk independently but can walk with support from a person or with assistive device (full leg calipers \\[knee-ankle-foot orthoses \\] or walker); 3. Highly adapted gait, wide-based lordotic gait, cannot increase walking speed; 4. Moderately adapted gait, can pick up speed but cannot run; 5. Able to pick up speed but runs with a double stance phase (that is, cannot achieve both feet off the ground); 6. Runs and gets both feet off the ground (with no double stance phase). If the time taken to perform a test exceeded 30 seconds or if a participant could not perform the test due to disease progression, a value of 30 seconds was used. A cumulative change from baseline data has been reported.", "timeFrame": "Baseline, Week 48"}, {"measure": "Change From Baseline in Time to Climb 4 Stairs at Week 48", "description": "During the test for stair-climbing, the method of climbing used by the participant was categorized as follows: 1. Unable to up climb 4 standard stairs; 2. Climbs 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), using both arms on one or both handrails; 3. Climbs 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), using one arm on one handrail; 4. Climbs 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), not needing handrail; 5. Climbs 4 standard stairs alternating feet, needs handrail for support; 6. Climbs 4 standard stairs alternating feet, not needing handrail support. A cumulative change from baseline data has been reported.", "timeFrame": "Baseline, Week 48"}, {"measure": "Change From Baseline in Time to Descend 4 Stairs at Week 48", "description": "During the test for stair-descending, the method of descending used by the participant was categorized as follows: 1. Unable to descend 4 standard stairs; 2. Descends 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), using both arms on one or both handrails; 3. Descends 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), using one arm on one handrail; 4. Descends 4 standard stairs \"marking time\" (climbs one foot at a time, with both feet on a step before moving to next step), not needing handrail; 5. Descends 4 standard stairs alternating feet, needs handrail for support; 6. Descends 4 standard stairs alternating feet, not needing handrail support. A cumulative change from baseline data has been reported.", "timeFrame": "Baseline, Week 48"}, {"measure": "Percentage of Participants With Treatment-Emergent Adverse Events (AEs)", "description": "An AE was any untoward medical occurrence in a participant who received study drug without regard to possibility of causal relationship. Serious adverse event (SAE) was an AE resulting in any of the following outcomes or deemed significant for any other reason: death; initial or prolonged inpatient hospitalization; life-threatening experience (immediate risk of dying); persistent or significant disability/incapacity; congenital anomaly. AEs included both SAEs and non-serious AEs. Treatment-emergent adverse event (TEAE) was defined as an adverse event that occurred or worsened in the period extending from first dose of study drug to 6 weeks after the last dose of study drug. A summary of other non-serious AEs and all SAEs, regardless of causality is located in the 'Reported AE section'.", "timeFrame": "Baseline up to Week 54"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":16,"Interventions":[{"type": "DRUG", "name": "Ataluren", "description": "Ataluren will be administered as per the dose and schedule specified in the arm.", "armGroupLabels": ["Ataluren"], "otherNames": ["PTC124"]}, {"type": "DRUG", "name": "Placebo", "description": "Placebo will be administered as per the schedule specified in the arm.", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["34693725", "34383312", "32851872", "28728956"],"See Also Links":["http://www.ptcbio.com"],"On Roche Website":false,"Roche Website URL":null},{"_id":37,"NCTID":"NCT01153932","Title":"A Phase II, Double Blind, Exploratory, Parallel-group, Placebocontrolled Clinical Study to Assess Two Dosing Regimens of GSK2402968 for Efficacy, Safety, Tolerability and Pharmacokinetics in Ambulant Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"GlaxoSmithKline","Organization Class":"INDUSTRY","Brief Title":"Phase II Doubleblind Exploratory Study of GSK2402968 in Ambulant Subjects With Duchenne Muscular Dystrophy","Status Verified Date":"2013-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this study is to determine whether GSK2402968 given as a continuous dose and as an intermittent dose is effective and safe in the treatment of Duchenne muscular dystrophy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ambulant subjects with Duchenne muscular dystrophy resulting from a mutation in the DMD gene, confirmed by a state-of-the-art DNA diagnostic technique covering all DMD gene exons, including but not limited to MLPA (Multiplex Ligation-dependent Probe Amplification), CGH (Comparative Genomic Hybridisation) or H-RMCA (High-Resolution Melting Curve Analysis), and correctable by GSK2402968-induced DMD exon 51 skipping,\n* Males, at least 5 years of age and with a life expectancy of at least 1 year\n* Able to rise from floor in ≤7 seconds (without aids/orthoses),\n* Able to complete the 6MWD test with a distance of at least 75m\n* Receiving glucocorticoids for a minimum of 6 months immediately prior to screening, with no significant change in total daily dosage or dosing regimen for a minimum of 3 months immediately prior to screening and a reasonable expectation that total daily dosage and dosing regimen will not change significantly for the duration of the study\n* QTc \\<450msec\n* On adequate contraception\n* Able to comply with and complete all protocol requirements\n\nExclusion Criteria:\n\n* any additional missing exon for DMD\n* Current of history of liver or renal disease or impairment\n* Acute illness within 4 weeks of the first dose\n* Use of prohibited meds within 6 months of fist dose\n* Current participation in any other investigational clinical trial\n* Positive hepatitis B surface antigen, hepatitis C antibody test, or human immunodeficiency virus (HIV) test at screening\n* Symptomatic cardiomyopathy\n* Children in Care","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2010-06-29","Study First Submit QC Date":"2010-06-29","Last Update Submit Date":"2014-08-21","Study First Post Date":"2010-06-30","Last Update Post Date":"2014-08-25","Start Date":"2010-09-01","Primary Completion Date":"2012-03-01","Completion Date":"2012-09-01","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 GSK2402968 given as a continuous dose and as an intermittent dose is effective and safe in the treatment of Duchenne muscular dystrophy.","Conditions":"Muscular Dystrophies","Phases":["PHASE2"],"Enrollment Count":53,"Primary Outcome Measure":[{"measure": "To assess the efficacy of 2 different dosing regimens of subcutaneous GSK2402968 administered over 24 weeks in ambulant subjects with DMD", "timeFrame": "48 weeks"}],"Secondary Outcome Measure":[{"measure": "To assess the safety and tolerability of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjects", "timeFrame": "one year"}, {"measure": "To assess the PK of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjects with DMD", "timeFrame": "48 weeks"}, {"measure": "To assess long term efficacy of 2 different dosing regimens of subcutaneous GSK2402968 administered over 48 weeks in ambulant subjects with DMD", "timeFrame": "one year"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "GSK2402968", "description": "Subcutaneous injection", "armGroupLabels": ["Continuous regimen; 6mg/kg once weekly", "Intermittent regimen; 6mg/kg twice weekly"], "otherNames": ["968"]}, {"type": "DRUG", "name": "matched placebo", "description": "Subcutaneous injection", "armGroupLabels": ["Continuous regimen; 6mg/kg once weekly", "Intermittent regimen; 6mg/kg twice weekly"], "otherNames": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["25209738"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":38,"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":"2026-04-03T00:00:00","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":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["29395989", "29395990", "24135430"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":39,"NCTID":"NCT04060199","Title":"A Phase 3 Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"NS Pharma, Inc.","Organization Class":"INDUSTRY","Brief Title":"Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With DMD (RACER53)","Status Verified Date":"2024-10-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Male ≥ 4 years and \\< 8 years of age\n* Confirmed DMD mutation(s) in the dystrophin gene that is amenable to skipping of exon 53 to restore the dystrophin mRNA reading frame\n* Able to walk independently without assistive devices\n* TTSTAND \\< 10 seconds\n* Stable dose of glucocorticoid (GC) for at least 3 months prior to study entry and is expected to remain on stable dose of GC treatment for the duration of the study\n* Other inclusion criteria may apply\n\nExclusion Criteria:\n\n* Current or history of chronic systemic fungal or viral infections\n* Acute illness within 4 weeks prior to the first dose of study drug\n* Evidence of symptomatic cardiomyopathy (Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary)\n* Allergy or hypersensitivity to the study drug or to any of its constituents\n* Severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator\n* 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* Surgery within the 3 months prior to the first dose of study drug or surgery is planned for anytime during the duration of the study\n* Participant has positive test results for hepatitis B antigen, hepatitis C antibody or human immunodeficiency virus (HIV)\n* Currently taking any other investigational drug or has taken any other investigational drug within 3 months prior to the first dose of study drug or within 5 times the half-life of a medication, whichever is longer\n* Previously enrolled in an interventional study of viltolarsen\n* Currently taking any other exon skipping agent or has taken any other exon skipping agent within 3 months prior to the first dose of study drug\n* Having taken any gene therapy\n* Other exclusion criteria may apply","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2019-08-15","Study First Submit QC Date":"2019-08-15","Last Update Submit Date":"2024-12-03","Study First Post Date":"2019-08-19","Last Update Post Date":"2024-12-11","Start Date":"2020-04-14","Primary Completion Date":"2023-10-19","Completion Date":"2023-10-19","Oversight Has DMC":null,"Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The main objective of this study is to evaluate the efficacy of Viltolarsen compared to placebo in Duchenne muscular dystrophy (DMD) patients amenable to exon 53 skipping.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":77,"Primary Outcome Measure":[{"measure": "Change From Baseline in Time to Stand (TTSTAND) Velocity", "description": "The change from baseline for velocity converted from TTSTAND was compared between the viltolarsen-treated patients and the placebo-treated patients. TTSTAND was assessed as the time it takes the participant to go from lying flat on the floor to standing. The time measured for TTSTAND was converted to a velocity expressed as rise per second.", "timeFrame": "baseline, Week 13, 25, 37, 49"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":7,"Interventions":[{"type": "DRUG", "name": "Viltolarsen", "description": "IV infusion", "armGroupLabels": ["Viltolarsen"], "otherNames": ["NS-065/NCNP-01"]}, {"type": "DRUG", "name": "Placebo", "description": "IV infusion", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":40,"NCTID":"NCT06682585","Title":"Determination of Nutritional Status of Duchenne Muscular Dystrophy Patients and Evaluation of the Effectiveness of Disease-Specific Nutrition Therapy","Organization Study ID":null,"Organization Full Name":"Ankara University","Organization Class":"OTHER","Brief Title":"Nutritional Status and Therapy in DMD Patients","Status Verified Date":"2024-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Brief Summary\n\nThe goal of this clinical trial is to evaluate the impact of a disease-specific, individualized diet on the nutritional status and functional abilities of Duchenne muscular dystrophy (DMD) patients. The study will focus on children aged 4-8 years residing in Ankara, Turkey.\n\nKey questions the investigators aim to answer:\n\nCan a tailored dietary intervention improve the nutritional status of DMD patients? Does a specialized diet positively impact the functional abilities of DMD patients, as measured by the North Star Ambulation Assessment (NSAA)? Participants will undergo a comprehensive nutritional assessment, including anthropometric measurements, and will receive individualized dietary counseling. The intervention will focus on optimizing energy, protein, calcium, and fluid intake, as well as addressing the potential side effects of corticosteroid therapy.\n\nThe primary outcome measure will be changes in nutritional status, as assessed by anthropometric measurements. Secondary outcome measures will include changes in functional abilities as measured by the NSAA and quality of life assessments.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nClinical diagnosis of Duchenne Muscular Dystrophy (DMD) Must be between 4 and 8 years old Able to ambulate independently Must be residing in Ankara province, Turkey Must be willing to participate and adhere to the dietary intervention, as confirmed by both the patient and their legal guardian(s) Must be currently receiving corticosteroid therapy\n\nExclusion Criteria:\n\nInability to read and write in Turkish Wheelchair-bound or unable to ambulate independently Significant liver or kidney dysfunction Scheduled for major surgery within 6 months of study enrollment Symptoms of dysphagia and swallowing difficulties Significant respiratory distress or respiratory insufficiency requiring mechanical ventilation.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-11-05","Study First Submit QC Date":"2024-11-08","Last Update Submit Date":"2025-11-20","Study First Post Date":"2024-11-12","Last Update Post Date":"2025-11-21","Start Date":"2024-11-18","Primary Completion Date":"2025-02-20","Completion Date":"2025-02-21","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Brief Summary\n\nThe goal of this clinical trial is to evaluate the impact of a disease-specific, individualized diet on the nutritional status and functional abilities of Duchenne muscular dystrophy (DMD) patients. The study will focus on children aged 4-8 years residing in Ankara, Turkey.\n\nKey questions the investigators aim to answer:\n\nCan a tailored dietary intervention improve the nutritional status of DMD patients? Does a specialized diet positively impact the functional abilities of DMD patients, as measured by the North Star Ambulation Assessment (NSAA)? Participants will undergo a comprehensive nutritional assessment, including anthropometric measurements, and will receive individualized dietary counseling. The intervention will focus on optimizing energy, protein, calcium, and fluid intake, as well as addressing the potential side effects of corticosteroid therapy.\n\nThe primary outcome measure will be changes in nutritional status, as assessed by anthropometric measurements. Secondary outcome measures will include changes in functional abilities as measured by the NSAA and quality of life assessments.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["NA"],"Enrollment Count":9,"Primary Outcome Measure":[{"measure": "Anthropometric measurements", "description": "Changes in body weight (kg). Body weight will be measured with an electronic scale sensitive to 0.1 kilograms.", "timeFrame": "From enrollment to the end of diet at 12 weeks"}, {"measure": "Anthropometric measurements", "description": "Changes in skinfold thickness (triceps, biceps, subscapular, and suprailiac) (in millimeters) Skinfold thickness will be compared to the World Health Organization's percentile and Z score charts to determine adequacy, deficiency, or excess.", "timeFrame": "From enrollment to the end of diet at 12 weeks"}, {"measure": "Anthropometric measurements", "description": "Changes in height (cm). Height is measured with the individual standing upright and the head in the Frankfurt plane (the orbitale point and tragion point are set to be on the horizontal plane), while the vertical distance from the ground to the vertex, which is the highest point of the head, will be measured with a tape measure on a fixed plane.", "timeFrame": "From enrollment to the end of diet at 12 weeks"}, {"measure": "Anthropometric measurements", "description": "Changes in Body Mass Index (BMI)(kg/m\u00b2). BMI will be obtained by dividing the particioant's body weight in kg by the square of the height in meters.\n\nBody mass index will be evaluated with the World Health Organization's percentile and Z score charts.", "timeFrame": "From enrollment to the end of diet at 12 weeks"}],"Secondary Outcome Measure":[{"measure": "Functional Ability", "description": "Changes in the North Star Ambulation Assessment (NSAA) score meausered by a specialist physiotherapist. The total score varies between 0-34. A higher score indicates better ambulation and motor function.", "timeFrame": "From enrollment to the end of diet at 12 weeks"}, {"measure": "Functional Ability", "description": "Changes in hand grip strength measured by hand dynamometry (in kilograms)", "timeFrame": "From enrollment to the end of diet at 12 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":48,"Maximum Age (Years)":96,"Interventions":[{"type": "OTHER", "name": "Individualised dietary intervention", "description": "* Energy Intake: Caloric needs will be calculated based on the patient's age, weight, and activity level, taking into account the potential impact of corticosteroid therapy on energy expenditure.\n* Protein Intake: Protein requirements will be met through a balanced diet, aiming to optimize muscle protein synthesis.\n* Calcium and Vitamin D Intake: Adequate intake of these nutrients will be emphasized to support bone health and prevent osteoporosis.\n* Fluid Intake: Fluid intake will be monitored to prevent dehydration and constipation.\n* Carbohydrate Intake: A low-glycemic index diet will be recommended to manage blood glucose levels and insulin resistance, especially in patients on corticosteroid therapy.\n* Sodium Intake: Sodium intake will be restricted to minimize fluid retention and hypertension.", "armGroupLabels": ["Dietary Intervention"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["33104257", "3601481", "34936149", "38777460", "33551221", "24824013", "33602943", "32616572", "16770791", "31789220", "25977513", "30194761"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":41,"NCTID":"NCT06241950","Title":"An Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability and Expression of SRP-9001 in Association With Imlifidase in Subjects With Duchenne Muscular Dystrophy With Pre-existing Antibodies to rAAVrh74","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Imlifidase Infusion in Participants With Duchenne Muscular Dystrophy (DMD) Determined to Have Pre-existing Antibodies to Recombinant Adeno-Associated Virus Serotype (rAAVrh74)","Status Verified Date":"2025-11-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing antibodies to rAAVrh74 over a period of 104 weeks.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Ambulatory per protocol specified criteria.\n* Has a definitive diagnosis of DMD prior to Screening based on documentation of clinical findings and confirmatory genetic testing.\n* Ability to cooperate with motor assessment testing.\n* Has elevated rAAVrh74 antibody titers per protocol-specified requirements.\n* A pathogenic frameshift mutation, nonsense mutation or premature stop codon or pathogenic variant in the DMD gene that is expected to lead to absence of dystrophin protein.\n* Stable daily dose of oral corticosteroids for at least 12 weeks prior to Screening, and the dose is expected to remain constant throughout the study (except for modifications to accommodate changes in weight).\n\nExclusion Criteria:\n\n* Previous treatment with imlifidase.\n* Presence of any other clinically significant illness, including cardiac, pulmonary, hepatic, renal, hematologic, immunologic, or behavioral disease, or infection or malignancy or concomitant illness or requirement for chronic drug treatment that in the opinion of the Investigator creates unnecessary risks for receiving the study drugs or a medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the participant's ability to comply with the protocol required testing or procedures or compromise the participant's wellbeing, safety, or clinical interpretability.\n* Exposure to gene therapy, investigational medication, or other protocol-specified treatment within the protocol specified time limits.\n* Abnormality in protocol-specified diagnostic evaluations or laboratory tests.\n\nNote: Other inclusion or exclusion criteria could apply.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-01-26","Study First Submit QC Date":"2024-01-26","Last Update Submit Date":"2025-11-17","Study First Post Date":"2024-02-05","Last Update Post Date":"2025-11-20","Start Date":"2024-01-29","Primary Completion Date":"2025-10-10","Completion Date":"2025-10-10","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a gene transfer therapy study evaluating the safety of delandistrogene moxeparvovec and delandistrogene moxeparvovec dystrophin expression in association with imlifidase, in participants with DMD with pre-existing antibodies to rAAVrh74 over a period of 104 weeks.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":5,"Primary Outcome Measure":[{"measure": "Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Protein Expression as Measured by Western Blot Adjusted by Muscle Content", "timeFrame": "Baseline, Week 12"}, {"measure": "Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by Immunofluorescence (IF) Fiber Intensity", "timeFrame": "Baseline, Week 12"}, {"measure": "Change From Baseline in Quantity of Delandistrogene Moxeparvovec Dystrophin Expression in Biopsied Muscle as Measured by IF Percent Dystrophin-positive Fibers (PDPF)", "timeFrame": "Baseline, Week 12"}, {"measure": "Mean Concentration of Vector Genome Copies Using Polymerase Chain Reaction in Muscle Tissue Biopsy, After Delandistrogene Moxeparvovec Administration", "timeFrame": "Week 12"}],"Secondary Outcome Measure":[{"measure": "Maximum Observed Plasma Concentration (Cmax) of Imlifidase", "timeFrame": "Up to Day 7"}, {"measure": "Total IgG in Serum After Imlifidase Administration", "timeFrame": "Up to Week 12"}, {"measure": "rAAVrh74 Antibody Titers After Imlifidase Administration", "timeFrame": "Up to Hour 120"}, {"measure": "Concentration of Vector Genome Copies Using Polymerase Chain Reaction in Serum, After Delandistrogene Moxeparvovec Administration", "timeFrame": "Up to Day 7"}, {"measure": "Number of Participants with a Treatment Emergent Adverse Event (TEAE), Adverse Event of Special Interest (AESI), and Serious Adverse Event (SAE)", "timeFrame": "Up to Week 104"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":9,"Interventions":[{"type": "GENETIC", "name": "delandistrogene moxeparvovec", "description": "Single IV infusion of delandistrogene moxeparvovec", "armGroupLabels": ["Delandistrogene Moxeparvovec after Imlifidase Infusion"], "otherNames": ["SRP-9001", "delandistrogene moxeparvovec-rokl", "ELEVIDYS"]}, {"type": "BIOLOGICAL", "name": "imlifidase", "description": "IV infusion of Imli\ufb01dase", "armGroupLabels": ["Delandistrogene Moxeparvovec after Imlifidase Infusion"], "otherNames": ["Idefirix"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":42,"NCTID":"NCT05657938","Title":"A Phase 0 Study to Evaluate the Clinical Readiness of a Wearable Sensor Device and Duchenne Video Assessment in the Home Environment on Participants With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"Solid Biosciences Inc.","Organization Class":"INDUSTRY","Brief Title":"Evaluation of Home Based Assessments on Participants With DMD","Status Verified Date":"2022-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nFor DMD patients:\n\n1. Parent/guardian or participant is able to give informed consent and/or assent as required by local regulations, and all are willing and able to comply with the protocol.\n2. Participant is assigned male sex at birth and is age 4 to \\<13 years at time of consent.\n3. Participant has a confirmed diagnosis of DMD based on genetic testing and/or clinical records consistent with the diagnosis.\n4. Participant has been on a stable glucocorticoid dose for 3 months prior to participation.\n5. Participant is ambulatory as defined by the ability to walk down a hallway at home without assistance or support.\n\nFor healthy age-matched controls:\n\n1. Parent/guardian or participant is able to give informed consent and/or assent as required by local regulations, and all are willing and able to comply with the protocol.\n2. Participant is assigned male sex at birth and age 4 to \\<13 years at time of consent.\n\nExclusion Criteria:\n\nFor DMD Patients:\n\n1. Participant is/was enrolled in any interventional study for DMD in the past 3 months or has ever been enrolled in a gene therapy study.\n2. Participant is on any approved therapy for DMD except for glucocorticoids.\n3. Participant is currently or was previously treated with exon-skipping antisense oligonucleotides such as eteplirsen, golodirsen, casimersen, and viltolarsen.\n4. Participant has any prior or ongoing medical condition, medical history, or physical finding that could affect the participant's ability to perform the study assessments.\n5. Participant has had major surgery within 3 months prior to recruitment or planned orthopedic surgery for any time during this study which would interfere with the ability to perform assessments.\n6. Participant has a history of allergic response to silicones or adhesives.\n7. Participant has an active implanted device (e.g., pacemaker). Implanted devices relying on an electrical power source to function are considered active devices.\n\nFor healthy age-matched controls:\n\n1. Participant has a known musculoskeletal disease or had a musculoskeletal injury in the past 3 months.\n2. Participant has other illness that precludes functional testing.\n3. Participant is enrolled in any interventional study.\n4. Participant has or has had any prior or ongoing medical condition, medical history, or physical finding that could affect the participant's ability to perform the study assessments.\n5. Participant has had major surgery within 3 months prior to recruitment or planned orthopedic surgery for any time during this study which would interfere with the ability to perform study assessments.\n6. Participant has a history of allergic response to silicones or adhesives.\n7. Participant has an active implanted device (e.g., pacemaker). Implanted devices relying on an electrical power source to function are considered active devices.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-10-26","Study First Submit QC Date":"2022-12-12","Last Update Submit Date":"2023-08-09","Study First Post Date":"2022-12-20","Last Update Post Date":"2023-08-14","Start Date":"2022-10-13","Primary Completion Date":"2023-04-04","Completion Date":"2023-04-04","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study is designed to evaluate the feasibility, wearability and participant satisfaction of novel outcome assessment tools in DMD patients which are performed in the home environment.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":17,"Primary Outcome Measure":[{"measure": "Wearable sensor device compliance", "description": "The wearable sensor device is composed of three small sticker-based sensors that are worn on the chest, thigh and ankle to record activity. Participants will wear the sensors during specified periods over the study duration and compliance will be assessed based on recorded activity.", "timeFrame": "30 days"}, {"measure": "Accuracy of functional evaluation using the Duchenne Video Assessment (DVA) tool in an at-home setting", "description": "The DVA is a digital tool designed to remotely evaluate functional capacity in a natural environment. Participants will complete a set of movement tasks at specified timepoints during the study that will be captured on video and scored by remote evaluators. DVA scoring will be compared with anticipated levels of functional capacity to assess accuracy.", "timeFrame": "30 days"}, {"measure": "Preference for use of the wearable sensor device and DVA tool as assessed by interview", "description": "Participants will be asked to complete an exit interview at the conclusion of the study to assess user preference.", "timeFrame": "Day 24-30"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":4,"Maximum Age (Years)":12,"Interventions":[{"type": "DEVICE", "name": "Wearable Device", "description": "The wearable device used in this study is an FDA 510(k) cleared Class II medical device designed to collect medical grade, clinical quality biometric, physiological and other electronic clinician outcome assessments data in a clinical trial setting. The system processes raw data into recognizable clinical metrics including vital signs, activity and posture classifications, surface electromyography (sEMG), and sleep metrics. The sensors are multi-modal, multilocation, rechargeable and reusable.", "armGroupLabels": ["Age Matched Controls", "DMD Patients"]}, {"type": "OTHER", "name": "Duchenne Video Assessment (DVA)", "description": "The DVA is a standardized tool that documents and assesses compensatory movement strategies as a marker of quality of movement.", "armGroupLabels": ["Age Matched Controls", "DMD Patients"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":43,"NCTID":"NCT02972580","Title":"Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD","Status Verified Date":"2024-08-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Age \\>18 years\n* Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child\n* Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene\n* Cohort C age-matched healthy controls with a normal CK level\n* Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child\n* Able to complete testing in English\n* Able to consent\n\nExclusion Criteria:\n\n* Subjects with a contraindication to cardiac or skeletal muscle MRI\n* Subjects on heart failure medication at time of enrollment\n* Subjects on steroid treatment\n* Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study\n* Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability","Sex":"FEMALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-07-25","Study First Submit QC Date":"2016-11-21","Last Update Submit Date":"2024-08-26","Study First Post Date":"2016-11-23","Last Update Post Date":"2024-08-27","Start Date":"2016-06-01","Primary Completion Date":"2030-12-01","Completion Date":"2030-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":null,"Enrollment Count":250,"Primary Outcome Measure":[{"measure": "Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging", "description": "Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.", "timeFrame": "2 years"}],"Secondary Outcome Measure":[{"measure": "Cardiac Function Assessment Treadmill SVO2", "description": "Stress on heart muscle measured by SVO2 (percentage of oxygen saturation in the blood of the pulmonary artery). SVO2 represents an average of all the venous oxygen saturation of major organs and tissues. This measure provides assessment of cardiopulmonary function and helps measure the degree of cardiac instability and can be an indicator of deterioration from normal.", "timeFrame": "2 years"}, {"measure": "Physical Therapy Assessments Maximum Voluntary Isometric Contraction Testing", "description": "MVICT measures strength of skeletal muscles by assessing the force generated by by individual muscles. The results can be compared to norms and deterioration can be assessed over time.", "timeFrame": "2 Years"}, {"measure": "Physical Therapy Assessments 6 Minute Walk Test", "description": "A timed test to assess distance walked in 6 minutes is very quantitative and can be assessed in comparison to normal controls. Deterioration over time can be clearly measured.", "timeFrame": "2 years"}, {"measure": "Physical Therapy Assessments ACTIVE-seated", "description": "Exploratory outcome quantifying upper extremity reaching ability using a custom-designed game telling how far the arm reaches in comparison to overall functional ability of the individual ability.", "timeFrame": "2 Years"}, {"measure": "Physical Therapy Assessments Time-to-Rise", "description": "A timed-test to measure ability to rise from the floor is quantifiable and measuring over time tells if there is loss of function.", "timeFrame": "2 Years"}, {"measure": "Laboratory biomarkers - Creatine Kinase", "description": "CK levels are an indicator of muscle breakdown.", "timeFrame": "2 Years"}, {"measure": "Laboratory biomarkers - C-Reactive Protein", "description": "Pro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.", "timeFrame": "2 Years"}, {"measure": "Laboratory biomarkers - Interleukin-6", "description": "Pro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.", "timeFrame": "2 Years"}, {"measure": "Laboratory biomarkers - Cortisol levels", "description": "Hair cortisol levels measure stress levels as a means of understanding coping with disease.", "timeFrame": "2 Years"}, {"measure": "Cognitive Assessment", "description": "Cognitive function measured by Wechsler Abbreviated Scale of Intelligence (WASI) provides a possible tool to measure disease awareness and establish if IQ level correlates with disease-related stress.", "timeFrame": "2 Years"}, {"measure": "Caregiver Stress", "description": "Online self-report survey to assess stress burden on caregiver.", "timeFrame": "2 Years"}, {"measure": "Pulmonary function testing (PFTs)", "description": "Stable or improved FVC", "timeFrame": "2 Years"}],"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":null,"Interventions":[{"type": "GENETIC", "name": "Genetic characterization", "description": "Confirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts", "armGroupLabels": ["Cohort A", "Cohort B", "Cohort C", "Cohort D"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["32473283"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":44,"NCTID":"NCT06900049","Title":"Evaluation of the Safety, Tolerability, and Efficacy of a Single Intravenous Injection of LE051 in Patients With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"Shanghai Jiao Tong University School of Medicine","Organization Class":"OTHER","Brief Title":"Evaluation of the Safety, Tolerability, and Efficacy of LE051 in Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2025-03-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The purpose of this study is to evaluate the safety, tolerability, and efficacy of LE051 intravenous therapy in DMD patients treated with exon 51 skipping therapy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Key Inclusion Criteria:\n\n* Male，4-8 years old at the beginning of screening (including boundary values;\n* DMD subjects with a clinical diagnosis of DMD referred to the Duchenne Clinical Practice Guidelines for Progressive Muscular Dystrophy (2020 edition) and whose genetic test results were confirmed to be applicable to exon skipping at No.51.\n* The subjects and/or his guardian voluntary participate in this trial and can comprehend and sign ICF.\n\nKey Exclusion Criteria:\n\n* Clinical signs of heart failure: left ventricular ejection fraction (LVEF) \\<40%；\n* The average FVC percentage of the predicted value is less than 40%；\n* 12 lead ECG QT interval (QTc) \\>0.45 seconds.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-03-23","Study First Submit QC Date":"2025-03-23","Last Update Submit Date":"2025-03-28","Study First Post Date":"2025-03-28","Last Update Post Date":"2025-04-02","Start Date":"2024-10-24","Primary Completion Date":"2026-09-20","Completion Date":"2026-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The purpose of this study is to evaluate the safety, tolerability, and efficacy of LE051 intravenous therapy in DMD patients treated with exon 51 skipping therapy.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["EARLY_PHASE1"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Frequency of AEs, SAEs", "timeFrame": "from day 1 to week 52 after treatment"}],"Secondary Outcome Measure":[{"measure": "Changes in North Star Ambulatory Assessment (NSAA) Scores Compared to Baseline", "description": "The North Star Ambulatory Assessment (NSAA) comprises 17 items yielding a total score between 0 and 34 points, with increased scores correlating with improved motor performance.", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in 6-Minute Walk Distance Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in Supine-to-Stand Time Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in 4-Stair Climb Time Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in 10-Meter Walk/Run Time Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in Dystrophin Protein Expression Levels in Muscle Tissue Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}, {"measure": "Changes in the Percentage of Dystrophin-Positive Muscle Fibers Compared to Baseline", "timeFrame": "from day 1 to week 52 after treatment"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":8,"Interventions":[{"type": "DRUG", "name": "LE051", "description": "LE051 dose escalation : dose 1 and dose 2.", "armGroupLabels": ["LE051 treatment"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":45,"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":"2025-04-01T00:00:00","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":"2026-04-03T00:00:00","Study First Submit Date":"2023-11-03","Study First Submit QC Date":"2023-11-03","Last Update Submit Date":"2025-08-05","Study First Post Date":"2023-11-09","Last Update Post Date":"2025-08-11","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":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":46,"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":"2026-04-03T00:00:00","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":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["38917696"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":47,"NCTID":"NCT06174025","Title":"Validity and Reliability of the 6 Minute Pegboard Ring Test in Duchenne Muscular Dystrophy Patients","Organization Study ID":null,"Organization Full Name":"Gaziantep Islam Science and Technology University","Organization Class":"OTHER","Brief Title":"Validity and Reliability of the 6 Minute Pegboard Ring Test","Status Verified Date":"2023-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study aimed to investigate the validity and reliability of 6PBRT in individuals with DMD and its applicability on these patients.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Volunteering to participate in the research,\n* Being diagnosed with Duchenne muscular dystrophy between the ages of 6-17,\n* Being Level 1 and 2 according to the Brooke Upper Extremity Functional Classification Scale\n* Having no problems reading and/or understanding the scales and cooperating with the tests to be.\n* Ability to sit independently for approximately 15 minutes during the evaluation\n\nExclusion Criteria:\n\n* Not volunteering to participate in the research,\n* Having any orthopedic problem in the upper extremity,\n* A neurological disease or other clinical condition that may affect cognitive status having a diagnosis,\n* Having had surgery on the upper extremities in the last 6 months and any having an injury\n* At a level that prevents functional activities in the upper extremity Having severe contractures (joint restriction)","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-11-20","Study First Submit QC Date":"2023-12-07","Last Update Submit Date":"2024-01-11","Study First Post Date":"2023-12-18","Last Update Post Date":"2024-01-12","Start Date":"2023-06-30","Primary Completion Date":"2023-12-30","Completion Date":"2024-01-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study aimed to investigate the validity and reliability of 6PBRT in individuals with DMD and its applicability on these patients.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":22,"Primary Outcome Measure":[{"measure": "6 Minute Pegboard and Ring Test", "description": "The 6-minute pegboard and ring test is used to assess upper extremity functional capacity. The patient sat in front of a perforated board with bottom pegs at shoulder level. The upper pegs are placed in the hole 20 cm above the lower pegs. 10 rings of the same size are placed on the lower pegs. The patient is asked to move as many rings as possible from the lower pegs to the upper pegs and vice versa within a 6-minute period. Pulse, blood pressure, SpO\u2082, dyspnea and arm fatigue detection are recorded before/after each test. Before the actual test, patients are allowed to move up and down the rings in a cycle to become familiar with the testing procedure. If the patient wants to rest during the test, he is allowed, but the stopwatch is not stopped. During the test, standard encouraging phrases are said to the patient at the end of each minute.", "timeFrame": "A total of two measurements will be made at 1-week intervals within 6 months."}],"Secondary Outcome Measure":[{"measure": "Quick Shoulder-Hand Syndromes Questionnaire", "description": "The Quick Shoulder-Hand Syndromes Questionnaire is used to evaluate musculoskeletal physical function and symptoms of the upper extremity. The survey consists of 11 items and is scored between 0-100 points. Higher scores indicate more disability", "timeFrame": "A total of two measurements will be made at 1-week intervals within 6 months."}, {"measure": "Assessment of muscle strength", "description": "Muscle strength will be measured using a digital dynamometer (Manual Muscle Tester\u2122), shoulder flexor, shoulder abductor, elbow extensor and elbow flexor muscle strength. Muscle tests will be repeated three times for each side and the highest value will be recorded in kg. Muscle strength will be calculated as percentages of expected values.", "timeFrame": "A total of two measurements will be made at 1-week intervals within 6 months."}, {"measure": "The Pediatric Quality of Life Inventory", "description": "The health-related quality of life of the participants will be evaluated with the Turkish version PedsQL-3.0 Neuromuscular Module. The scale consists of 3 categories containing 25 items. These categories; It includes 17 items regarding the disease process and related symptoms, 3 items regarding communication skills, and 5 items regarding the family's financial and social support systems. The items of the scale are scored between 4 (always poses a problem) and 0 (never poses a problem). At the end of the scale, a score between 0 and 4 is made. A score close to 100 indicates that the health-related quality of life is at a better level.", "timeFrame": "A total of two measurements will be made at 1-week intervals within 6 months."}, {"measure": "Brooke Upper Extremity Functional Classification Scale", "description": "It will be used to evaluate the upper extremity functional level of the individuals who will be included in the study. It was developed to determine the functional level of the upper extremity in the clinical evaluation of DMD (11). The steps of this scale are as follows; Level 1: Begins to move with the arms at the sides and can fully clasp the hands above the head.\n\nLevel 2: However, he can bring his arms above his head by flexing his elbows or use his accessory muscles Level 3: He cannot raise his hands above his head, but he can bring the glass to his mouth (uses both hands if necessary).\n\nLevel 4: He can raise his hands to his mouth, but cannot lift a glass of water to his mouth.\n\nLevel 5: Cannot raise hands to mouth, but can raise hands to hold a pen or pick up a coin from the table.\n\nLevel 6: He cannot raise his hands up to his mouth and cannot use his hands functionally.", "timeFrame": "A total of two measurements will be made at 1-week intervals within 6 months."}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["39660725"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":48,"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":"2026-04-03T00:00:00","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":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":49,"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":"2026-04-03T00:00:00","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":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":50,"NCTID":"NCT02958202","Title":"A Multi Center, Multi National, Open Label, Extension Study to Evaluate the Long-term Efficacy and Safety of BMN 044 (PRO044) in Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"BioMarin Pharmaceutical","Organization Class":"INDUSTRY","Brief Title":"Extension Study of BMN 044 in Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2018-01-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"The aim of this study is to provide continuing access to BMN 044 treatment for subjects previously treated with BMN 044. The information gained from this study is expected to further characterize the efficacy and safety of BMN 044 over a longer treatment period.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Subjects previously treated with BMN 044 or a comparator treatment in a BMN 044 Sponsored Study or Investigator Initiated Trial and who are not eligible for another ongoing BMN 044 study.\n* Continued use of glucocorticosteroids for a minimum of 60 days prior to study entry with a reasonable expectation that the subject will remain on glucocorticosteroids for the duration of this study.\n* Willing and able to comply with all study requirements and procedures.\n* Willing and able to provide written, signed informed consent, or in the case of subjects under the age of 18 years(or 16 years, depending on the region), provide written assent (if required) and written informed consent by a legally authorized representative after the nature of the study has been explained, and prior to the conduct of any research-related procedures.\n\nExclusion Criteria:\n\n* Subjects who have previously been treated with BMN 044 who had a serious adverse experience or met safety stopping criteria, that remains unresolved, which in the opinion of the Investigator could have been attributable to BMN 044.\n* History of significant medical disorder which may confound the interpretation of safety data\n* Acute illness within 4 weeks prior to the first dose of BMN 044 (Week 1) which may interfere with the measurements.\n* Symptomatic cardiomyopathy.\n* Baseline aPTT above the upper limit of normal (ULN).\n* Baseline platelet count below the lower limit of normal (LLN).\n* Use of anti coagulants, anti thrombotics or anti platelet agents within 28 days of the baseline visit.\n* Prior use of any investigational product (other than BMN 044) or investigational medical device must be discussed with the Medical Monitor prior to screening.\n* Current or history of drug and/or alcohol abuse.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-10-27","Study First Submit QC Date":"2016-11-04","Last Update Submit Date":"2018-01-23","Study First Post Date":"2016-11-08","Last Update Post Date":"2018-01-26","Start Date":"2016-04-01","Primary Completion Date":"2016-09-01","Completion Date":"2016-09-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The aim of this study is to provide continuing access to BMN 044 treatment for subjects previously treated with BMN 044. The information gained from this study is expected to further characterize the efficacy and safety of BMN 044 over a longer treatment period.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":7,"Primary Outcome Measure":[{"measure": "Number of subjects with 1 or more treatment emergent adverse events following BMN044 dosing", "timeFrame": "Through study completion, an average of 1 year"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "BMN 044 IV 6 mg/kg", "armGroupLabels": ["BMN 044 IV 6 mg/kg"], "otherNames": ["PRO044"]}, {"type": "DRUG", "name": "BMN 044 IV 9 mg/kg", "armGroupLabels": ["BMN 044 IV 9 mg/kg"], "otherNames": ["PRO044"]}, {"type": "DRUG", "name": "BMN 044 SC 6 mg/kg", "armGroupLabels": ["BMN 044 SC 6 mg/kg"], "otherNames": ["PRO044"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":51,"NCTID":"NCT02760264","Title":"A Phase IIa Open-Label, Multiple Ascending Dose Study to Assess the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"ReveraGen BioPharma, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2018-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this study is to determine whether a new medication called vamorolone is safe and well-tolerated by boys with Duchenne muscular dystrophy (DMD) ages ≥ 4 and \\< 7 years old.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Subject's parent or legal guardian has provided written informed consent/Health Insurance Portability and Accountability Act (HIPAA) authorization prior to any study-related procedures;\n2. Subject has a confirmed (by Central Genetic Counselor) diagnosis of DMD as defined as:\n\n   1. Dystrophin immunofluorescence and/or immunoblot showing complete dystrophin deficiency, and clinical picture consistent with typical DMD, OR\n   2. Identifiable mutation within the DMD gene (deletion/duplication of one or more exons) where reading frame can be predicted as 'out-of-frame', and clinical picture consistent with typical DMD, OR\n   3. Complete dystrophin gene sequencing showing an alteration (point mutation, duplication, other) that is expected to preclude production of the dystrophin protein (i.e. nonsense mutation, deletion/duplication leading to a downstream stop codon), with a typical clinical picture of DMD;\n3. Subject is ≥ 4 years and \\< 7 years of age at time of enrollment in the study;\n4. Subject is able to complete the Time to Stand Test (TTSTAND) without assistance, as assessed at the Screening and Baseline Visits;\n5. Clinical laboratory test results are within the normal range at the Screening Visit, or if abnormal, are not clinically significant, in the opinion of the Investigator. (Note: Serum gamma glutamyl transferase \\[GGT\\], creatinine, and total bilirubin all must be ≤ upper limit of the normal range at the Screening Visit);\n6. Subject has evidence of chicken pox immunity as determined by presence of IgG antibodies to varicella, as documented by a positive test result from the testing laboratory at the Screening Visit; and\n7. Subject and parent/guardian are willing and able to comply with scheduled visits, study drug administration plan, and study procedures.\n\nExclusion Criteria:\n\n1. Subject has current or history of major renal or hepatic impairment, diabetes mellitus or immunosuppression;\n2. Subject has current or history of chronic systemic fungal or viral infections;\n3. Subject has had an acute illness within 4 weeks prior to the first dose of study medication;\n4. Subject has used mineralocorticoid receptor agents, such as spironolactone, eplerenone, canrenone (canrenoate potassium), prorenone (prorenoate potassium), mexrenone (mexrenoate potassium) within 4 weeks prior to the first dose of study medication;\n5. Subject has evidence of symptomatic cardiomyopathy. \\[Note: Asymptomatic cardiac abnormality on investigation would not be exclusionary\\];\n6. Subject is currently being treated or has received previous treatment with oral glucocorticoids or other immunosuppressive agents. \\[Notes: Past transient use of oral glucocorticoids or other oral immunosuppressive agents for no longer than 3 months cumulative, with last use at least 3 months prior to first dose of study medication, will be considered for eligibility on a case-by-case basis. Inhaled and/or topical corticosteroids prescribed for an indication other than DMD are permitted but must be administered at stable dose for at least 3 months prior to study drug administration\\];\n7. Subject has used idebenone within 4 weeks prior to the first dose of study medication;\n8. Subject has an allergy or hypersensitivity to the study medication or to any of its constituents;\n9. Subject has severe behavioral or cognitive problems that preclude participation in the study, in the opinion of the Investigator;\n10. Subject has previous or ongoing medical condition, medical history, physical findings or laboratory abnormalities that could affect safety, make it unlikely that treatment and follow-up will be correctly completed or impair the assessment of study results, in the opinion of the Investigator;\n11. Subject is taking any other investigational drug currently or has taken any other investigational drug within 3 months prior to the start of study treatment; or\n12. Subject has previously been enrolled in the study.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-04-28","Study First Submit QC Date":"2016-04-30","Last Update Submit Date":"2018-12-11","Study First Post Date":"2016-05-03","Last Update Post Date":"2019-01-02","Start Date":"2016-06-01","Primary Completion Date":"2018-05-01","Completion Date":"2018-05-01","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 a new medication called vamorolone is safe and well-tolerated by boys with Duchenne muscular dystrophy (DMD) ages ≥ 4 and \\< 7 years old.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":48,"Primary Outcome Measure":[{"measure": "Overall Summary of Adverse Events as Assessed by CTCAE Version 4.03", "description": "Treatment-emergent adverse events (TEAEs) are defined as any adverse event or worsening of an existing conditions after initiation of the investigational product and through the subject's last study visit (study completion or early termination). Serious adverse events were recorded for up to 30 days after the final administration of study drug.\n\nNote: Total Number of Treatment Emergent Adverse Events: The total incidences of TEAEs experienced in study; Any Treatment Emergent Adverse Event: TEAEs reported at least once per dose group", "timeFrame": "Adverse events will be recorded from the date of informed consent and through the time of the subject's last study visit. Serious adverse events will be recorded from the date of informed consent and for up to 30 days after final drug administration."}],"Secondary Outcome Measure":[{"measure": "Serum Pharmacodynamic Biomarkers (Insulin Resistance)- Fasting Glucose", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Week 2"}, {"measure": "Serum Pharmacodynamic Biomarkers (Insulin Resistance) -Fasting Glucose", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Week 2"}, {"measure": "Serum Pharmacodynamic Biomarkers (Insulin Resistance)- Insulin", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline , Week 2"}, {"measure": "Serum Pharmacodynamic Biomarkers (Insulin Resistance)- Insulin", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Week 2"}, {"measure": "Serum Pharmacodynamic Biomarkers (Adrenal Axis Suppression)- First in Morning Cortisol", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Week 2 (pre-dose)"}, {"measure": "Serum Pharmacodynamics Biomarkers (Bone Turnover) -Osteocalcin", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Day 1, Week 2, Week 4"}, {"measure": "Serum Pharmacodynamic Biomarkers (Bone Turnover)- Procollagen 1 N-Terminal Propeptide", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline Day 1 Week 2 Week 4"}, {"measure": "Serum Pharmacodynamic Biomarkers (Bone Turnover)- Procollagen 1 N-Terminal Propeptide", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Day 1, Week 2, Week 4"}, {"measure": "Serum Pharmacodynamic Biomarkers (Bone Turnover)-Type I Collagen C-Telopeptides", "description": "Pharmacodynamic biomarkers were measured to investigate the effects of single and multiple oral doses of vamorolone on serum PD biomarkers in ambulant boys ages 4-\\< 7 years with DMD.", "timeFrame": "Baseline, Day 1, Week 4"}, {"measure": "Pharmacokinetic (PK) Assessments (Tmax)", "description": "Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. tmax= time when plasma concentration is at maximum.", "timeFrame": "Day 1, Week 2"}, {"measure": "Pharmacokinetic (PK) Assessments (AUC Inf)", "description": "Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. AUC inf= Area under the concentration vs. time curve to time infinity.", "timeFrame": "Day 1, Week 2"}, {"measure": "Pharmacokinetic (PK) Assessments CL (ml/hr/kg)", "description": "Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay", "timeFrame": "Day 1, Week 2"}, {"measure": "Pharmacokinetic (PK) Assessments t(1/2)", "description": "Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay. t1/2= elimination half life.", "timeFrame": "Day 1, Week 2"}, {"measure": "Pharmacokinetic (PK) Assessments (Cmax)", "description": "Plasma concentrations of vamorolone were measured using a specific and validated liquid chromatography tandem mass spectrometry (LC-MS) assay", "timeFrame": "Day 1, Week 2"}, {"measure": "Metabolites in Safety Testing (MIST) Assessment", "description": "A portion of each blood sample of the Week 2 (Day 14) pharmacokinetic assessment time points for the subjects receiving vamorolone 2 mg/kg/day was used for analysis of vamorolone metabolites.", "timeFrame": "Week 2 (Day 14)"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":6,"Interventions":[{"type": "DRUG", "name": "Vamorolone 0.25 mg/kg/day", "description": "Oral administration of 0.25 mg/kg/day daily for 14 days.", "armGroupLabels": ["Dose Level Group 1"], "otherNames": ["VBP15"]}, {"type": "DRUG", "name": "Vamorolone 0.75 mg/kg/day", "description": "Oral administration of 0.75 mg/kg/day daily for 14 days.", "armGroupLabels": ["Dose Level Group 2"], "otherNames": ["VBP15"]}, {"type": "DRUG", "name": "Vamorolone 2.0 mg/kg/day", "description": "Oral administration of 2.0 mg/kg/day daily for 14 days.", "armGroupLabels": ["Dose Level Group 3"], "otherNames": ["VBP15"]}, {"type": "DRUG", "name": "Vamorolone 6.0 mg/kg/day", "description": "Oral administration of 6 mg/kg/day daily for 14 days.", "armGroupLabels": ["Dose Level Group 4"], "otherNames": ["VBP15"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["38521535", "32956407", "32434278"],"See Also Links":["http://cinrgresearch.org/", "http://www.reveragen.com/", "https://www.ncbi.nlm.nih.gov/pubmed/30219580"],"On Roche Website":false,"Roche Website URL":null},{"_id":52,"NCTID":"NCT00674843","Title":"Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies.","Organization Study ID":null,"Organization Full Name":"GAAD Medical Research Institute Inc.","Organization Class":"OTHER","Brief Title":"The Efficacy of Using Far Infrared Radiation to Manage Muscular Dystrophies","Status Verified Date":"2009-08-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. This study will investigate the use of far infrared radiation for managing muscular dystrophies.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Persons with muscular dystrophies\n\nExclusion Criteria:\n\n* None","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2008-05-06","Study First Submit QC Date":"2008-05-07","Last Update Submit Date":"2009-08-14","Study First Post Date":"2008-05-08","Last Update Post Date":"2009-08-17","Start Date":"2008-05-01","Primary Completion Date":"2010-05-01","Completion Date":"2010-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The muscular dystrophies (MD) are a group of more than 30 neuromuscular disorders that are characterized by progressive skeletal muscle weakness, defects in muscle proteins and the death of muscle cells and tissue. This study will investigate the use of far infrared radiation for managing muscular dystrophies.","Conditions":"Muscular Dystrophies","Phases":["PHASE1"],"Enrollment Count":4,"Primary Outcome Measure":[{"measure": "Management and Cure of muscular dystrophies", "timeFrame": "2 Years"}],"Secondary Outcome Measure":[{"measure": "Rehabilitation of people with muscular dystrophies", "timeFrame": "2 Years"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "RADIATION", "name": "Far Infrared Radiation", "description": "Radiation: Far Infrared Radiation (5\u03bcm to 20\u03bcm wavelength) Far Infrared radiation for 30 to 40 minutes per treatment session.", "armGroupLabels": ["1"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":53,"NCTID":"NCT04669847","Title":"The Effects of Trunk Exercises on Upper Extremity and Respiratory Functions in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Akdeniz University","Organization Class":"OTHER","Brief Title":"The Effects of Trunk Exercises on Upper Extremity and Respiratory Functions in DMD","Status Verified Date":"2020-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The aim of this study was to investigate the effects of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy (DMD).\n\n26 children with DMD aged 5-16 were included in the study. They were divided into two groups (study and control). The study group exercised with the trunk-oriented exercise program and the conventional exercise program under the supervision of a physiotherapist, whereas the control group underwent the conventional exercise program under the supervision of their families at home for 8 weeks.\n\nTrunk control, the upper extremity function and respiratory function test were assessed before and after the 8-week exercise program in this study.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosed with Duchenne Muscle Dystrophy\n* No injuries and no neurological or orthopedic surgery in the last 6 months\n* No other systemic or orthopedic / neurological disorders to prevent exercise\n\nExclusion Criteria:\n\n\\-","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-01-09","Study First Submit QC Date":"2020-12-15","Last Update Submit Date":"2020-12-15","Study First Post Date":"2020-12-17","Last Update Post Date":"2020-12-17","Start Date":"2018-04-07","Primary Completion Date":"2019-04-01","Completion Date":"2019-12-06","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The aim of this study was to investigate the effects of trunk training on trunk control, upper extremity, and pulmonary function in children with Duchenne muscular dystrophy (DMD).\n\n26 children with DMD aged 5-16 were included in the study. They were divided into two groups (study and control). The study group exercised with the trunk-oriented exercise program and the conventional exercise program under the supervision of a physiotherapist, whereas the control group underwent the conventional exercise program under the supervision of their families at home for 8 weeks.\n\nTrunk control, the upper extremity function and respiratory function test were assessed before and after the 8-week exercise program in this study.","Conditions":"Muscular Dystrophy, Duchenne;Upper Extremity;Respiratory Functions","Phases":["NA"],"Enrollment Count":26,"Primary Outcome Measure":[{"measure": "Trunk control", "description": "The trunk control levels of the children were determined according to the Trunk Control Measurement Scale (TCMS). TCMS consists of two sections: static sitting balance and dynamic sitting balance. Dynamic sitting balance is also divided into two subscales: selective movement control and dynamic reaching. The whole scale includes 15 items and all items are scored on a two-, three- or four-point ordinal scale. The total score of the TCMS ranges from 0 to 58, a higher score indicating a better performance of trunk control. TCMS is found to be a reliable and valid assessment to measure trunk control in boys with DMD.", "timeFrame": "8 weeks"}, {"measure": "Upper extremity function", "description": "Upper Limb Performance was evaluated with The Performance of Upper Limb (PUL) scale. PUL consists of 22 items in total, the items that evaluate upper extremity function at the distal (hand-wrist), middle (elbow), and shoulder levels, and the first item of the scale to evaluate the general upper extremity level. Score options are range from 0-1 to 0-6 depending on the performance of the first item. Each level is evaluated separately, with a maximum score of 16 from the shoulder level, 34 from the middle level, and 24 from the distal level, and a total score of 0-74.", "timeFrame": "8 weeks."}, {"measure": "Respiratory function (FEV1)", "description": "Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of forced expiratory volume in one second (FEV1) value relative to the expected value was recorded in pulmonary function test.", "timeFrame": "8 weeks."}, {"measure": "Respiratory function (FVC)", "description": "Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of forced vital capacity (FVC) value relative to the expected value was recorded in pulmonary function test.", "timeFrame": "8 weeks."}, {"measure": "Respiratory function (PEF)", "description": "Respiratory functions were evaluated by pulmonary function tests. Pulmonary function tests were performed in accordance with the American Thoracic Society (ATS) / European Respiratory Society (ERS) criteria, in a sitting position with a computer-compatible spirometer (Cosmed Pony FX machine). Percentages of peak flow rate (PEF) value relative to the expected value was recorded in pulmonary function test.", "timeFrame": "8 weeks."}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":16,"Interventions":[{"type": "OTHER", "name": "Trunk-oriented exercise program", "description": "The trunk-oriented exercise program was performed by a physiotherapist two days of the week for 8 weeks.Trunk-oriented exercises were specially adapted to the patient based on the patient's functional status and active participation in the exercises.", "armGroupLabels": ["Study Group"]}, {"type": "OTHER", "name": "Conventional exercise program", "description": "Conventional exercise program was performed daily for 8 weeks, twice a day, on average 45 minutes, each exercise 5-10 repetitions. The program formed stretching exercises, and active or active-assisted strength exercises (upper extremity, lower extremity, abdominal muscles, back muscles).", "armGroupLabels": ["Control Group", "Study Group"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":54,"NCTID":"NCT02295748","Title":"An Open-Label, Multi-Center, Long-Term Extension Study to Evaluate the Safety and Tolerability of Orally Administrated Deflazacort in Children and Adolescent Subjects With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"An Open-Label, Long-Term Extension Study to Evaluate the Safety and Tolerability Deflazacort","Status Verified Date":"2017-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is an open label, long-term extension study in approximately 24 male DMD subjects consisting of children (ages 4-12, inclusive) and adolescents (ages 13-16, inclusive) who participated in the MP-104-CL-005 PK study.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Subject is capable of understanding and complying with protocol requirements.\n* Subject or, when applicable, the subject's legally acceptable representative signs and dates a written, informed consent form and any required privacy authorization prior to the initiation of any study procedures.\n* If above the age of 7, the subject signs and dates a written, informed assent form (IAF) and any required privacy authorization prior to the initiation of any study procedures. Subjects under age 7 at the time of study entry who turn age 7 will sign and date a written informed assent form (IAF) at the visit following their 7th birthday, if required by the site's IRB.\n* Subject participated in and received at least one dose of study medication in the MP-104-CL-005 protocol.\n* The subject must have confirmed diagnosis of Duchenne Muscular Dystrophy defined as:\n\n  1. onset of weakness before 5 years of age;\n  2. proximal muscle weakness;\n  3. increased serum creatine kinase more than 10 times the upper limit of normal (ULN);\n  4. muscle biopsy and dystrophin analyses consistent with DMD or DNA mutation and analysis by PCR or Southern blot techniques to detect gene deletions.\n* The subject weighs at least 13 kg and has a body mass index (BMI) of ≤ 40 kg/m2.\n* Willingness and ability to comply with scheduled visits, oral drug administration, and study procedures including blood sample draws for safety labs.\n* Up to date on all childhood vaccinations, including varicella vaccine (chicken pox).\n* Baseline health is judged to be stable based on medical history, physical examination, laboratory profiles, vital signs, or ECGs at screening, as deemed by the Investigator.\n* Continuous non smoker who has not used nicotine containing products for at least 3 months prior to the first dose.\n* The subject is able to take tablets.\n\nExclusion Criteria:\n\n* The subject has received any investigational compound and/or has participated in another clinical study within 90 days prior to study treatment with the exception of MP-104-CL-005, observational cohort studies or non-interventional studies.\n* The subject is an immediate family member, study site employee, or is in a dependent relationship with a study site employee who is involved in the conduct of this study (e.g. spouse, parent, child, sibling) or may consent under duress.\n* Any significant finding on the Columbia suicide severity rating scale (C SSRS) for subjects (ages 12-16, inclusive), in the opinion of the PI, warrants exclusion from this study.\n* The subject has, in the judgment of the, clinically significant abnormal clinical chemistry laboratory parameters that may affect safety at Day 0.\n* The subject has, in the judgment of the Investigator, a history or current medical condition that could affect safety including, but not limited to:\n\n  1. Major renal or hepatic impairment\n  2. Immunosuppression or other contraindications for corticosteroid treatment\n  3. History of chronic systemic fungal or viral infections\n  4. Diabetes mellitus\n  5. Idiopathic hypocalciuria\n  6. Symptomatic cardiomyopathy at Day 0\n* The subject has a history of hypersensitivity or allergic reaction to steroids or their formulations including, but not limited to lactose, sucrose, etc.\n* Inability to take tablets as assessed by site investigator.\n* Subject is mentally or legally incapacitated or has significant emotional problems at the time of screening visit or expected during the conduct of the study.\n* History of any illness that, in the opinion of the PI, might confound the results of the study or poses an additional risk to the subject by their participation in the study.\n* Positive urine drug or alcohol results at Day 0.\n* Hemoglobin level below the lower limit of normal at Day 0.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2014-11-18","Study First Submit QC Date":"2014-11-18","Last Update Submit Date":"2017-12-06","Study First Post Date":"2014-11-20","Last Update Post Date":"2017-12-08","Start Date":"2014-12-01","Primary Completion Date":"2017-08-24","Completion Date":"2017-08-24","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This is an open label, long-term extension study in approximately 24 male DMD subjects consisting of children (ages 4-12, inclusive) and adolescents (ages 13-16, inclusive) who participated in the MP-104-CL-005 PK study.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number, frequency, and severity of adverse events", "description": "Long-term safety and tolerability will be characterized by the number, frequency, and severity of adverse events from Day 1 through End of Study or Early Termination.", "timeFrame": "3 years"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Deflazacort", "description": "Deflazacort, a glucocorticoid with anti-inflammatory and immunosuppressive effects, is used in treating a variety of diseases. Pharmacologically it is an inactive pro-drug which is metabolized rapidly to the active drug 21-desacetyldeflazacort.", "armGroupLabels": ["Deflazacort"], "otherNames": ["DFZ"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":55,"NCTID":"NCT01000012","Title":"Compassionate Use of the Becker Expander/Breast Implant","Organization Study ID":null,"Organization Full Name":"Mentor Worldwide, LLC","Organization Class":"INDUSTRY","Brief Title":"Compassionate Use of the Becker Expander/Breast Implant","Status Verified Date":"2013-10-01T00:00:00","Overall Status":"NO_LONGER_AVAILABLE","Brief Summary":"To provide access of the Becker Expander/Breast implant to women who do not meet inclusion/exclusion criteria of the Becker Continued Access Study\n\nPatients' physician will contact Mentor to request use of the device and each request will be reviewed by Mentor, an IRB, and the FDA on a case-by-case basis","Study Type":"EXPANDED_ACCESS","Eligibility Criteria":"Inclusion Criteria:\n\n* Women who require a Becker Expander/Breast implant who do not meet inclusion/exclusion criteria of the Becker Continued Access Study","Sex":"FEMALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2009-10-21","Study First Submit QC Date":"2009-10-21","Last Update Submit Date":"2013-10-28","Study First Post Date":"2009-10-22","Last Update Post Date":"2013-10-29","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":"To provide access of the Becker Expander/Breast implant to women who do not meet inclusion/exclusion criteria of the Becker Continued Access Study\n\nPatients' physician will contact Mentor to request use of the device and each request will be reviewed by Mentor, an IRB, and the FDA on a case-by-case basis","Conditions":"Breast Reconstruction","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": "DEVICE", "name": "Becker 50 Expander/Breast implant", "description": "The breast implant is comprised of the Becker implant and the injection dome/fill tube and has a low bleed, gel-filled outer lumen and an adjustable saline-fillable inner lumen. The inner lumen can be gradually filled with saline over an extended period of time via the fill tube by injecting saline through the injection dome. Once expanded to the desired volume, the fill tube and injection dome are removed through a small incision under local anesthetic, and the prosthesis remains in position as a breast implant.\n\nThe Becker 50 Expander/Breast Implant has a 50% gel volume and a 50% saline volume, so a 400cc implant would nominally have 200cc of saline and 200cc of silicone. The Becker 50 Expander/Breast Implant is available in sizes from 300 to 700cc."}, {"type": "DEVICE", "name": "Becker 25 Expander/Breast implant", "description": "The breast implant is comprised of the Becker implant and the injection dome/fill tube and has a low bleed, gel-filled outer lumen and an adjustable saline-fillable inner lumen. The inner lumen can be gradually filled with saline over an extended period of time via the fill tube by injecting saline through the injection dome. Once expanded to the desired volume, the fill tube and injection dome are removed through a small incision under local anesthetic, and the prosthesis remains in position as a breast implant.\n\nThe Becker 25 Expander/Breast Implant has a silicone gel volume of approximately 25% and saline volume of approximately 75%. The Becker Expander/Breast Implant is available in sizes 150 - 800cc."}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":56,"NCTID":"NCT03589612","Title":"Regression of Hamstring Flexibility and Performance in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Regression of Hamstring Flexibility and Performance in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2019-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Investigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* To be a Duchenne Muscular Dystrophy diagnosis,\n* Being in the ambulatory period and climbing four steps independently,\n* to be Level 1 and Level 2 according to Brooke Lower Functional Classification Test\n* To be able to cooperate\n* No any severe contracture in the lower limbs which may prevent assessments,\n\nExclusion Criteria:\n\n* Children who fail to meet these criteria study.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2018-07-05","Study First Submit QC Date":"2018-07-05","Last Update Submit Date":"2019-09-27","Study First Post Date":"2018-07-18","Last Update Post Date":"2019-09-30","Start Date":"2018-03-08","Primary Completion Date":"2019-01-24","Completion Date":"2019-01-24","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Investigator investigated that regression of hamstring flexibility and performance in children with Duchenne Muscular Dystrophy.","Conditions":"Duchenne Muscular Dystrophy;Performance;Flexibility","Phases":null,"Enrollment Count":60,"Primary Outcome Measure":[{"measure": "Popliteal Angle Test", "description": "The Popliteal Angle Test was used to assess hamstring flexibility. Child asked to rise lower leg straight. Incomplete angle degree of full extension is popliteal angle.", "timeFrame": "5 minute"}],"Secondary Outcome Measure":[{"measure": "6 Minute Walk Test", "description": "6 Minute Walk Test was used to assess performance with children Duchenne MUscular Dystropy.", "timeFrame": "6 minute"}, {"measure": "North Star Ambulation Assessment", "description": "The North Star Ambulatory Assessment (NSAA) is used to assess mobility for in ambulatory children with DMD for 5 years. NSAA is consist of 17 items from stand to run.", "timeFrame": "20 minute"}],"Healthy Volunteers":null,"Minimum Age (Years)":5,"Maximum Age (Years)":14,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":57,"NCTID":"NCT02037243","Title":"Testing the Use of Disgust and Shame Messages in Safe Water and Handwashing Promotion in Urban Dhaka","Organization Study ID":null,"Organization Full Name":"International Centre for Diarrhoeal Disease Research, Bangladesh","Organization Class":"OTHER","Brief Title":"Disgust and Shame Based Safe Water and Handwashing Promotion","Status Verified Date":"2014-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"An estimated 2.2 million children under the age of 5 years die from diarrheal disease each year. Most of the burden of diarrheal disease is thought to be preventable with improvements in sanitation, water quality, and hygiene. Large scale interventions promoting these behaviours have either not been rigorously tested or have not produced sufficient change to warrant being rolled out at scale.\n\nResearch into the determinants of hand washing behaviour has identified disgust and shame as key motivators. Evidence supports the theory that disgust is a natural behavioural reaction to objects carrying disease risk, thus it may act as a key motivator for other health related behaviours such as water treatment. Whether this knowledge can be harnessed to increase the efficacy of hand washing and safe water campaigns in Bangladesh or elsewhere has yet to be rigorously tested.\n\nThe investigators will develop an intervention that utilizes disgust and shame eliciting messages to promote hand washing with soap and point of use water treatment in low income housing compounds of urban Dhaka. The investigators will test the efficacy of this intervention against a more traditional public health intervention based on increasing knowledge of health risks and germ transmission using a randomized controlled trial. The study sample will be broken into the following four arms.\n\n1. Standard Public Health Intervention with Water Treatment\n2. Standard Public Health Intervention with Water Treatment \\& Hand Washing\n3. Disgust and Shame Based Intervention with Water Treatment\n4. Disgust and Shame Based Intervention with Water Treatment \\& Hand\n\nThis design will allow us to compare outcomes for hand washing and water treatment between both standard public health interventions and disgust and shame based interventions as well as test the overall efficacy of the program comparing with the control. Data will be collected from all compounds at baseline, three month midline and at the six month endline giving us the practical and analytical benefits of a longitudinal dataset.\n\nCompounds will participate in interactive, educational safe water and/or hygiene promotion meetings. For the Disgust and Shame group, these meetings will emphasize disgust and shame related to unsafe water and/or hygiene practices, whereas the Standard group's meetings will resemble a more typical public health intervention explaining the risks and methods of contamination.\n\nAt the first meeting, compounds will receive a one month free trial of the latest compound based chlorine dispenser model to treat their drinking water. A randomly selected half will also receive a one month free trial of the latest compound based handwashing station. At the end of the month, there will be a sales meeting in which the investigators will measure compound members' willingness to pay for the trialled products by giving them the opportunity purchase and keep the hardware in a Becker-DeGroot-Marschek (BDM) style auction.\n\nIn assessing the impact of the interventions, the investigators are primarily interested in whether the prevalences of safe water and hygiene behaviours differ by treatment arm and over time. The best measurements for approximating behaviour prevalence are physical observations (presence of residual chlorine, hand cleanliness inspections), structured observation of behaviour, rapid physical observations (physical state of hardware/drinking water), self-report of water treatment and hand washing behaviour and willingness to pay for necessary products. The investigators will also attempt to measure and track changes in personal determinants of behaviour such as feelings of disgust and shame related to hand washing and water treatment behaviours.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nEssential compound criteria\n\n* Between 3 and 15 Households\n* Shared water source\n* Physical space exists to hold a compound meeting here or nearby\n* Population is all Bangali\n\nExclusion Criteria:\n\n* No other interventions going on at this time","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2011-11-01","Study First Submit QC Date":"2014-01-14","Last Update Submit Date":"2015-06-11","Study First Post Date":"2014-01-15","Last Update Post Date":"2015-06-12","Start Date":"2011-08-01","Primary Completion Date":"2012-06-01","Completion Date":"2014-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"An estimated 2.2 million children under the age of 5 years die from diarrheal disease each year. Most of the burden of diarrheal disease is thought to be preventable with improvements in sanitation, water quality, and hygiene. Large scale interventions promoting these behaviours have either not been rigorously tested or have not produced sufficient change to warrant being rolled out at scale.\n\nResearch into the determinants of hand washing behaviour has identified disgust and shame as key motivators. Evidence supports the theory that disgust is a natural behavioural reaction to objects carrying disease risk, thus it may act as a key motivator for other health related behaviours such as water treatment. Whether this knowledge can be harnessed to increase the efficacy of hand washing and safe water campaigns in Bangladesh or elsewhere has yet to be rigorously tested.\n\nThe investigators will develop an intervention that utilizes disgust and shame eliciting messages to promote hand washing with soap and point of use water treatment in low income housing compounds of urban Dhaka. The investigators will test the efficacy of this intervention against a more traditional public health intervention based on increasing knowledge of health risks and germ transmission using a randomized controlled trial. The study sample will be broken into the following four arms.\n\n1. Standard Public Health Intervention with Water Treatment\n2. Standard Public Health Intervention with Water Treatment \\& Hand Washing\n3. Disgust and Shame Based Intervention with Water Treatment\n4. Disgust and Shame Based Intervention with Water Treatment \\& Hand\n\nThis design will allow us to compare outcomes for hand washing and water treatment between both standard public health interventions and disgust and shame based interventions as well as test the overall efficacy of the program comparing with the control. Data will be collected from all compounds at baseline, three month midline and at the six month endline giving us the practical and analytical benefits of a longitudinal dataset.\n\nCompounds will participate in interactive, educational safe water and/or hygiene promotion meetings. For the Disgust and Shame group, these meetings will emphasize disgust and shame related to unsafe water and/or hygiene practices, whereas the Standard group's meetings will resemble a more typical public health intervention explaining the risks and methods of contamination.\n\nAt the first meeting, compounds will receive a one month free trial of the latest compound based chlorine dispenser model to treat their drinking water. A randomly selected half will also receive a one month free trial of the latest compound based handwashing station. At the end of the month, there will be a sales meeting in which the investigators will measure compound members' willingness to pay for the trialled products by giving them the opportunity purchase and keep the hardware in a Becker-DeGroot-Marschek (BDM) style auction.\n\nIn assessing the impact of the interventions, the investigators are primarily interested in whether the prevalences of safe water and hygiene behaviours differ by treatment arm and over time. The best measurements for approximating behaviour prevalence are physical observations (presence of residual chlorine, hand cleanliness inspections), structured observation of behaviour, rapid physical observations (physical state of hardware/drinking water), self-report of water treatment and hand washing behaviour and willingness to pay for necessary products. The investigators will also attempt to measure and track changes in personal determinants of behaviour such as feelings of disgust and shame related to hand washing and water treatment behaviours.","Conditions":"Develop a New Group Version of the Becker-DeGroot-Marsckek (BDM) Auction to Measure Willingness to Pay of Compound Members for Shared Hardware.;Develop a New Survey Instrument to Measure Behavioural Determinants of Hand Washing and Water Treatment Like Disgust and Shame or Social Pressure.;Identify New Methods for Measuring Hand Washing and Water Treatment Behaviour.;Compare the Effectiveness of the Disgust and Shame Based Interventions With Standard Public Health Interventions.","Phases":["PHASE1"],"Enrollment Count":420,"Primary Outcome Measure":[{"measure": "Chlorine residual test of stored drinking water in the home. This is a downward biased but reliable measure.", "description": "Hand washing indicators which have been shown to be independently associated with less self reported diarrhoea \\[55\\] Hand Inspection: Child's finger pads are visibly clean. Hand washing demonstration: Mother uses soap when demonstrating how she washes her hands.\n\nSelf report by mothers of washing hands with soap before feeding children. Structured Observation Physical condition of hand washing hardware: Present, usable, filled. This is a valid detector of non-users.", "timeFrame": "9 months"}],"Secondary Outcome Measure":[{"measure": "Water Treatment", "description": "Willingness to pay for compound based chlorine dispenser. Structured Observation Self-Report of water treatment behaviour. This is an upward biased measure but is believed to be reliable. Physical condition of water treatment station: Present, usable, filled. This is a valid detector of non-users.", "timeFrame": "9 months"}],"Healthy Volunteers":true,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "BEHAVIORAL", "name": "Standard Public Health Intervention with Water Treatment", "description": "Compound level meeting", "armGroupLabels": ["Standard public health intervention", "Water Treatment"]}, {"type": "BEHAVIORAL", "name": "Standard Public Health Intervention with Water Treatment & Hand Washing", "description": "Compound level meeting", "armGroupLabels": ["Hand washing", "Standard public health intervention", "Water Treatment"]}, {"type": "BEHAVIORAL", "name": "Disgust and Shame Based Intervention with Water Treatment", "description": "Compound level meeting", "armGroupLabels": ["Disgust and shame intervention", "Water Treatment"]}, {"type": "BEHAVIORAL", "name": "Disgust and Shame Based Intervention with Water Treatment & Hand Washing", "description": "Compound level meeting", "armGroupLabels": ["Disgust and shame intervention", "Hand washing", "Water Treatment"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":58,"NCTID":"NCT03167255","Title":"A Phase II, Open-Label, Extension Study to Assess the Safety and Efficacy of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)","Organization Study ID":null,"Organization Full Name":"NS Pharma, Inc.","Organization Class":"INDUSTRY","Brief Title":"Extension Study of NS-065/NCNP-01 in Boys With Duchenne Muscular Dystrophy (DMD)","Status Verified Date":"2022-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is an open-label, extension study of NS-065/NCNP-01 administered intravenously once weekly for an additional 192 weeks to boys with DMD who complete Study NS-065/NCNP-01-201.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Completed Study NS-065/NCNP-01-201 through Week 25.\n2. Willing and able to comply with scheduled visits, investigational product administration plan, and study procedures.\n3. Stable dose of glucocorticoid (GC), and is expected to remain on the stable dose for the duration of the study.\n\nExclusion Criteria:\n\n1. Serious or severe adverse event in Study NS-065/NCNP-01-201 that precludes safe use of NS-065/NCNP-01.\n2. Patient had a treatment which was made for the purpose of dystrophin or its related protein induction after completion of Study NS-065/NCNP-01-201.\n3. Patient took any other investigational drugs after completion of Study NS-065/NCNP-01-201.\n4. Patient was judged by the investigator and/or the Sponsor that it was not appropriate to participate in the extension study for other reasons.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2017-05-22","Study First Submit QC Date":"2017-05-23","Last Update Submit Date":"2022-12-01","Study First Post Date":"2017-05-25","Last Update Post Date":"2022-12-28","Start Date":"2017-07-06","Primary Completion Date":"2021-10-20","Completion Date":"2021-11-15","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is an open-label, extension study of NS-065/NCNP-01 administered intravenously once weekly for an additional 192 weeks to boys with DMD who complete Study NS-065/NCNP-01-201.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":16,"Primary Outcome Measure":[{"measure": "Change From Baseline in Time to Stand (TTSTAND) Versus Matched Historical Controls", "description": "A primary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Stand (TTSTAND)", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Time to Stand (TTSTAND) Velocity Versus Matched Historical Controls", "description": "A primary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Stand (TTSTAND) Velocity", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Number of Participants With Treatment Related Adverse Events as Assessed by CTCAE v4.0.", "description": "For adverse events (AEs) starting in study 201 (NCT02740972) which are not resolved at the time of enrollment into this study 202, any change in outcome or relatedness were reported in study 201.\n\nFor AEs starting in study 201 which increase in severity or becomes serious after enrollment in this study 202, a new AE was reported in this study.\n\nTreatment-emergent AEs (TEAEs) were summarized by dose level. Coding was done by system organ class and preferred term (using the Medical Dictionary for Regulatory Activities (MedDRA)). Level of severity was assessed using the CTCAE grading system.", "timeFrame": "Up to 192 weeks of treatment"}],"Secondary Outcome Measure":[{"measure": "Change From Baseline in Time to Run/Walk 10 Meters Test (TTRW) Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Run/Walk 10 meters test (TTRW)", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Time to Run/Walk 10 Meters Test (TTRW) Velocity Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Run/Walk 10 meters test (TTRW) Velocity.\n\nThe results were converted into velocity (meter/time).", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Time to Climb 4 Stairs (TTCLIMB) Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Climb 4 stairs (TTCLIMB)", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Time to Climb 4 Stairs (TTCLIMB) Velocity Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Time to Climb 4 stairs (TTCLIMB) Velocity. The results were converted into velocity (meter/time).", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in North Star Ambulatory Assessment (NSAA) Score Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): North Star Ambulatory Assessment (NSAA) score\n\nThe NSAA is a functional scale devised for use in ambulant children with Duchenne muscular dystrophy (DMD).\n\nIt consists of 17 activities graded 0 (unable to perform), 1 (performs with modifications), 2 (normal movement). It assesses abilities necessary to remain ambulant that have been found to progressively deteriorate in untreated DMD patients, as well as in other muscular dystrophies such as Becker Muscular Dystrophy. NSAA Total Score ranges from 0 to 34, with a score of 34 implying normal function.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157 in Study 202"}, {"measure": "Change From Baseline in Six-Minute Walk Test (6MWT) Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Six-Minute Walk Test (6MWT)", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157 in Study 202"}, {"measure": "Change From Baseline in Quantitative Muscle Testing (QMT) for Handgrip Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Handgrip For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side.\n\nQMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Quantitative Muscle Testing (QMT) for Elbow Flexors Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Elbow Flexors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side.\n\nQMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Quantitative Muscle Testing (QMT) for Elbow Extensors Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Elbow Extensors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side.\n\nQMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Quantitative Muscle Testing (QMT) for Knee Flexors Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Knee Flexors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side.\n\nQMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}, {"measure": "Change From Baseline in Quantitative Muscle Testing (QMT) for Knee Extensors Versus Matched Historical Controls", "description": "A secondary efficacy endpoint was compared to Baseline of Study 201 (NCT02740972): Quantitative Muscle Testing (QMT) for Knee Extensors For QMT tests, the higher of each of the bilateral scores recorded for each muscle group at each visit were analyzed. QMT tests were analyzed by dominant/non-dominant side.\n\nQMT is a well-established method for measuring muscle weakness in neuromuscular disease. Patients will be placed on an examination table with a back-support system to eliminate the need for manual back stabilization. Following a single practice administration, each patient will complete a scored QMT evaluation (perform 2 tests; with the higher of the 2 values used for data analysis). QMT will be performed by recording force in pounds through a direct computer interface with a strain gauge.", "timeFrame": "Baseline 201, Weeks 37, 49, 73, 109, 157, 205 in Study 202"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":10,"Interventions":[{"type": "DRUG", "name": "NS-065/NCNP-01", "description": "Received during weekly intravenous infusions", "armGroupLabels": ["NS-065/NCNP-01 40mg/kg", "NS-065/NCNP-01 80mg/kg"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":59,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":60,"NCTID":"NCT06643442","Title":"Repurposing Empagliflozin for Duchenne Muscular Dystrophy - Associated Cardiomyopathy: a Pharmacokinetics, Safety and Proof-of-concept Study Among Children 6-18 Years of Age","Organization Study ID":null,"Organization Full Name":"Centre Hospitalier Universitaire Vaudois","Organization Class":"OTHER","Brief Title":"Repurposing Empagliflozin for DMD-associated Cardiomyopathy in Children 6-18 Years of Age","Status Verified Date":"2024-10-01T00:00:00","Overall Status":"NOT_YET_RECRUITING","Brief Summary":"This study aims at exploring the use of empagliflozin in children and adolescents 6-18 years old with Duchenne muscular distrophy (DMD) - associated cardiomyopathy. This molecule is effective in reducing hospitalizations and mortality in adults with heart failure and is used in adolescents with type 2 diabetes mellitus, but little is known on children and adolescents with heart failure. Particularly, the best dose to use in this population is currently unknown. This trial aims to:\n\n1. define a dose rationale for this indication and age group (pharmacokinetic study),\n2. assess and monitor safety,\n3. assess ease-of-swallow,\n4. explore middle-term (3-6 months) efficacy and efficacy markers.\n\nParticipants will be asked to attend 5 study visits over 6 months, and one end-study visit 2-12 weeks thereafter. Visit 1 will entail an 8h day-hospital stay, while Visits 2, 3, 4 and 5, as well as the end-study visit, will be outpatient clinics (approximately 2h). Participants will be asked to take the studied drug once daily during the 6 months of the study period.\n\nNo comparison group is foreseen for this study.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Children or adolescents 6 to 18 years of age with DMD-associated cardiomyopathy, followed either as in- or outpatients, will be eligible for inclusion.\n* Currently on heart failure medication (any drug or any combination).\n* Patients should potentially benefit from adding a SGLT2i (as judged by the treating physician and the PI or Co-PI).\n* Patients need to be on stable medical treatment, defined as no new heart failure drug started over the preceding 2 weeks and no major drug dose modification (apart minor adaptations, like weight adaptations, rounding or formulation changes) during the 2 weeks prior to enrolment.\n* Adolescents, respectively parents or caregivers of children, capable of giving informed consent.\n* Ability to tolerate a cardiac MRI investigation without the need of general anaesthesia.\n\nExclusion Criteria:\n\n* Inability to understand and go through the informed consent procedure.\n* Inability to receive medications per os or through a nasogastric tube.\n* Type 1 or Type 2 Diabetes mellitus or any underlying metabolic disease associated with hypoglycaemias.\n* Body weight \\<15kg.\n* Current smokers (defined as \\>1 cigarette/week).\n* Use of any other nicotine-delivering product (e.g. nicotine patches).\n* Any known illicit drug abuse.\n* Active chronic HBV, HCV or HIV.\n* Any major surgery within 4 weeks of first dose administration.\n* Blood transfusion recipient within 4 weeks of dose administration.\n* eGFR \\<45mL/min/1.73m2 (simplified Schwartz formula or Filler formula).\n* K+ \\>6.5mmol/L.\n* Blood glucose \\<4mmol/L.\n* There are no blood pressure exclusion criteria foreseen, but participants need to be haemodynamically stable, as assessed by the local investigator.\n* Sustained or symptomatic arrhythmia insufficiently controlled with drug and/or device therapy.\n* Cardio-surgical procedure within the 2 months prior to Visit 1, or interventional cardiac catheterization within 2 weeks prior to Visit 1, or the patient is planned to undergo cardiac surgery or an interventional cardiac catheterization during the study period (i.e. in the 6 months following Visit 1).\n* Post-menarchal female patients of childbearing potential cannot be included. Participants who begin menstruating during the trial will be discontinued from the IMP. However, their monitoring will continue up to 6 months after their first dose of IMP.\n* Known lactose intolerance, galactose intolerance, total lactase deficiency, or glucose-galactose malabsorption.\n* Known allergies to active ingredients or excipients of commercially available empagliflozin tablets.\n* Significant medical history of active severe medical disease.\n* Significant liver disease, Child Pugh Class C, or significant laboratory abnormalities at enrolment.\n* Significant gastroenterological or hepatic disease that could significantly impair absorption or metabolism of orally administered drugs.\n* Any medical co-morbidity, which is deemed incompatible (or only with relevant risk) with study participation by the treating clinician and/or the study investigator.\n* Active urinary tract infection (being treated with antibiotics at the moment of Visit 1) or other relevant bacterial infection, as judged by the treating clinician and/or the study investigator.\n* The patient is currently participating in another interventional clinical trial or has participated in such a trial during the \\<14 days before Visit 1 (or if enrolment in this study is incompatible with the protocol of that preceding trial), or the duration of five half-lives of the IMP, whichever is longer.","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-06-03","Study First Submit QC Date":"2024-10-11","Last Update Submit Date":"2025-08-12","Study First Post Date":"2024-10-16","Last Update Post Date":"2025-08-15","Start Date":"2025-10-01","Primary Completion Date":"2027-03-31","Completion Date":"2027-03-31","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study aims at exploring the use of empagliflozin in children and adolescents 6-18 years old with Duchenne muscular distrophy (DMD) - associated cardiomyopathy. This molecule is effective in reducing hospitalizations and mortality in adults with heart failure and is used in adolescents with type 2 diabetes mellitus, but little is known on children and adolescents with heart failure. Particularly, the best dose to use in this population is currently unknown. This trial aims to:\n\n1. define a dose rationale for this indication and age group (pharmacokinetic study),\n2. assess and monitor safety,\n3. assess ease-of-swallow,\n4. explore middle-term (3-6 months) efficacy and efficacy markers.\n\nParticipants will be asked to attend 5 study visits over 6 months, and one end-study visit 2-12 weeks thereafter. Visit 1 will entail an 8h day-hospital stay, while Visits 2, 3, 4 and 5, as well as the end-study visit, will be outpatient clinics (approximately 2h). Participants will be asked to take the studied drug once daily during the 6 months of the study period.\n\nNo comparison group is foreseen for this study.","Conditions":"DMD-associated Dilated Cardiomyopathy","Phases":["PHASE2"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Pharmacokinetics - apparent clearance (CL/F)", "description": "Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \\& simulation techniques).\n\nBasing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including CL/F).", "timeFrame": "Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)"}, {"measure": "Pharmacokinetics - apparent (central) volume of distribution (Vd/F)", "description": "Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \\& simulation techniques).\n\nBasing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including Vd/F).", "timeFrame": "Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)"}, {"measure": "Pharmacokinetics - half-life", "description": "Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \\& simulation techniques).\n\nBasing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including t1/2).", "timeFrame": "Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)"}, {"measure": "Pharmacokinetics - AUC", "description": "Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \\& simulation techniques).\n\nBasing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including AUC).", "timeFrame": "Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)"}, {"measure": "Pharmacokinetics - maximal concentration (Cmax)", "description": "Empagliflozin concentrations at the different time-points (6 samples at Visit 1, 1 opportunistic sample at Visits 2 and 3; the timing of the samples will be optimized with modeling \\& simulation techniques).\n\nBasing on these concentrations, non-compartmental pharmacokinetic calculations will be performed, allowing to determine pharmacokinetic parameters (including Cmax).", "timeFrame": "Time Frame: Visit 1 to Visit 3 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks after study start)"}],"Secondary Outcome Measure":[{"measure": "Safety 1 - eGFR", "description": "Creatinine, respectively Cystatin C, will be collected in order to calculate eGFR (bedside Schwartz formula, respectively Filler equation).", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Safety 2 - Occurrence of hypoglycemia", "description": "Blood glucose will be checked three times at Visit 1 (baseline, at approximately 2-3h post-intake, and before discharge at 8h post-intake), as well as once at Visits 2 to 5. Outcome measure: number of patients experiencing hypoglycemia.", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Safety 3 - Occurrence of ketoacidosis", "description": "The outcome is presence (or absence) of ketoacidosis. This will be assessed at Visits 1, 2, 3, 4 and 5. Outcome measure: number of patients experiencing ketoacidosis.", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Safety 4 - Occurrence of UTI", "description": "The outcome is presence (or absence) of UTI diagnosis. This will be assessed at Visits 1, 2, 3, 4 and 5. Outcome measure: number of patients experiencing UTI between Visit 2 and Visit 5.", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Ease of swallow", "description": "Ease of swallow will be assessed by means of facial hedonic scales, according to our standard procedure, at Visit 1. (Scale 1 to 4, 1 being the worse and 4 the best score: very difficult - difficult - possible - easy to swallow.)", "timeFrame": "Visit 1 (Visit 1 = day 1)"}, {"measure": "Efficacy and efficacy markers (exploratory) 1 - Heart failure severity class", "description": "Symptoms, clinical signs, NYHA (if \\> or =8 years of age) / Ross (if \\<8 years of age) class assignment. NYHA and Ross heart failure classes share the same scale of I (no limitation of physical activity) to IV (symptoms at rest). Analysis will be performed at Visit 1, Visit 4 and Visit 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 2 - NT-proBNP level", "description": "Analysis will be performed at Visits 1, 3, 4 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1 to Visit 5 (Visit 1 = day 1, Visit 2 = 1 week, Visit 3 = 5-6 weeks, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 3 - Echocardiography 1: Left-ventricular end-diastolic diameter (LVEDd)", "description": "LVEDd (z-score) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 4 - Echocardiography 2: Left-ventricular end-systolic diameter (LVESd)", "description": "LVESd (z-score) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 5 - Echocardiography 3: Fractional shortening (FS)", "description": "FS (%) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 6 - Echocardiography 4: Left ventricular ejection fraction (LV-EF)", "description": "LV-EF (%) will be measured at Visits 1, 4 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visits 1, 4 and 5 (Visit 1 = day 1, Visit 4 = 3 months, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 7 - cMRI 1: Left ventricular end-diastolic volume", "description": "LV end-diastolic volume will be measured at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 8 - cMRI 2: Left ventricular end-systolic volume", "description": "LV end-systolic volume will be measured at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 9 - cMRI 3: Left ventricular ejection fraction", "description": "LV end-systolic ejection fraction will be measured/calculated at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment"}, {"measure": "Efficacy and efficacy markers (exploratory) 10 - cMRI 4: Presence of late gadolinium enhancement", "description": "Presence (y) or absence (n) of late gadolinium enhancement in each of the 17 AHA segments will be measured at Visits 1 and 5. Outcome: change in number of LGE positive segments between Visit 1 and Visit 5.", "timeFrame": "Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)"}, {"measure": "Efficacy and efficacy markers (exploratory) 11 - cMRI 5: Extracellular volume (ECV)", "description": "Extracellular volume (ECV) will be measured/calculated at Visits 1 and 5. Outcome: change between Visit 1 and Visit 5.", "timeFrame": "Visit 1, Visit 5 (Visit 1 = day 1, Visit 5 = 6 months after enrolment)"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":[{"type": "DRUG", "name": "Empagliflozin Tablets", "description": "Empagliflozin 10mg p.o. once daily (commercially available tablet)", "armGroupLabels": ["Empagliflozin"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["33019553", "29958420", "22633303", "27812385", "17047217", "32865377", "30326162", "14501841", "36252992", "35083827", "35613023", "38635113", "21245364", "21246352", "26785826", "34858897", "24216246", "21087295"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":61,"NCTID":"NCT07332013","Title":"Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials","Organization Study ID":null,"Organization Full Name":"Children's Hospital of Philadelphia","Organization Class":"OTHER","Brief Title":"Urinary Titin Biomarker in DMD","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"A universal challenge in clinical investigation of novel therapeutics is the need for quantitative, objective biomarkers that directly address the mechanisms of disease and provide information relevant to clinically meaningful functional improvement. This has been a particular challenge in rare and slowly progressive diseases such as Duchenne Muscular Dystrophy (DMD).\n\nThe investigators hypothesize that urinary N-terminal fragment of titin (NTFT) corresponding to activity level/intensity will define a high-precision, non-invasive biomarker of systemic muscle injury to enable serial measurements of efficacy and safety in the clinical investigation of gene therapy for DMD and other myopathies. This should provide a valuable exploratory, secondary and eventually primary outcome measure of therapeutic efficacy to minimize the enrollment size in informative early phase and pivotal clinical trials.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"DMD/BMD Subject Inclusion/Exclusion Criteria\n\nInclusion Criteria:\n\n1. Ambulatory at screening\n2. Genetically confirmed diagnosis of DMD/BMD\n3. Parental/guardian permission (informed consent) for children. Child assent will also be obtained from patients ages 7 years old and older and deemed by the investigator to be neurodevelopmentally appropriate\n4. Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples\n\nExclusion Criteria:\n\n* Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices\n* Female patients\n* Parental/guardian unable to provide informed consent\n\nHealthy Control Subject Inclusion/Exclusion Criteria\n\nInclusion criteria:\n\n1. Healthy children without DMD, BMD, or other significant chronic medical disease\n2. Ambulatory at Screening, defined as able to walk independently without assistive devices\n3. Parental/guardian permission (informed consent). Child assent will also be obtained from patients aged 7 years and older and deemed by the investigator to be neurodevelopmentally appropriate.\n4. Access to electricity and a freezer in the home, in order to utilize the provided device and store collected samples\n\nExclusion criteria:\n\n* Non-ambulatory at Screening, defined as unable to walk independently and needing assistive devices\n* Female patients\n* Parental/guardian unable to provide informed consent","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-11-06","Study First Submit QC Date":"2026-01-09","Last Update Submit Date":"2026-02-04","Study First Post Date":"2026-01-12","Last Update Post Date":"2026-02-05","Start Date":"2026-03-01","Primary Completion Date":"2029-12-01","Completion Date":"2029-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"A universal challenge in clinical investigation of novel therapeutics is the need for quantitative, objective biomarkers that directly address the mechanisms of disease and provide information relevant to clinically meaningful functional improvement. This has been a particular challenge in rare and slowly progressive diseases such as Duchenne Muscular Dystrophy (DMD).\n\nThe investigators hypothesize that urinary N-terminal fragment of titin (NTFT) corresponding to activity level/intensity will define a high-precision, non-invasive biomarker of systemic muscle injury to enable serial measurements of efficacy and safety in the clinical investigation of gene therapy for DMD and other myopathies. This should provide a valuable exploratory, secondary and eventually primary outcome measure of therapeutic efficacy to minimize the enrollment size in informative early phase and pivotal clinical trials.","Conditions":"Duchenne Muscular Dystrophy (DMD);Becker's Muscular Dystrophy (BMD)","Phases":["NA"],"Enrollment Count":50,"Primary Outcome Measure":[{"measure": "Change in urinary NTFT (titin) after structured activity", "description": "Change in urinary NTFT concentration will be measured before and after clinical visits, during which subjects will complete standard of care physical therapy assessments and perform a two-flight stair descent (if able).", "timeFrame": "Day 1, 6-12 months , 12-18 months"}, {"measure": "Urinary NTFT (titin) relative during unstructured activity in home environment", "description": "Change in urinary NTFT (titin) concentration over 1 week in response to unstructured activity at home and will be measured after each scheduled visit. This period of home NTFT monitoring will occur at the same time as activity monitoring described in outcome measure #3.", "timeFrame": "Day 1, 6-12 months, 12- 18 months"}, {"measure": "Unstructured activity level as assessed by wearable activity device", "description": "Subjects' daily movement and activity levels will be measured continuously over 1 week at home using a pair of wearable accelerometry sensors. This will be completed after each scheduled clinical visit. This period of home activity monitoring will occur in conjunction with NTFT monitoring as described in outcome measure #2.", "timeFrame": "Day 1, 6-12 months, 12-18 months"}],"Secondary Outcome Measure":[{"measure": "Change in neuromuscular performance over time, as assessed by routine North Star Ambulatory Assessment (NSAA)", "description": "North Star Ambulatory Assessment is a standardized set of 17 different activities such as standing, sitting, climbing up and down one step, getting up from the floor, walking, and balancing, which will measure the subjects' motor function while the PT assesses their performance. NSAA will be evaluated at each scheduled visit. The change over time will be evaluated.", "timeFrame": "Day 1, 6-12 months, 12-18 months"}, {"measure": "Neuromuscular performance over time, as assessed by time to rise from floor (TTR).", "description": "The time it takes the participant to get up from the floor will be evaluated at each scheduled visit. The change in TTR over time will be evaluated.", "timeFrame": "Day 1, 6-12 months, and 12-18 months"}, {"measure": "Neuromuscular performance over time, as assessed by 4 stair climb (4SC).", "description": "The time it takes the participant to climb 4 stairs will be evaluated at each scheduled visit. The change in 4SC over time will be evaluated.", "timeFrame": "Day 1, 6-12 months, 12-18 months"}, {"measure": "Neuromuscular performance over time, as assessed by 10 meter walk (10MW)", "description": "The time it takes the participant to walk 10 meters will be evaluated at each scheduled visit. The change in 10MW time over time will be evaluated.", "timeFrame": "Day 1, 6-12 months, 12-18 months"}, {"measure": "Types of activities", "description": "Subject's will record type of activity and time spent doing activities in an activity log. The amount of time spent doing activities involving walking and running will be quantified for each study group during 1 week at home following each scheduled visit.", "timeFrame": "Day 1, 6-12 months, 12-18 months"}],"Healthy Volunteers":true,"Minimum Age (Years)":2,"Maximum Age (Years)":10,"Interventions":[{"type": "OTHER", "name": "Descending stair walk", "description": "Subjects will participate in a brief on-site, descending stair walk. Subjects will walk down stairs, up to a maximum 2 floors, under the supervision of a physical therapist or study team member.", "armGroupLabels": ["Experimental"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":62,"NCTID":"NCT05464446","Title":"Examination of Lower Urinary System Symptoms and Related Factors in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Lokman Hekim University","Organization Class":"OTHER_GOV","Brief Title":"Examination of Lower Urinary System Symptoms With Duchenne Muscular Dystrophy","Status Verified Date":"2022-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms.\n\nForty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Having been diagnosed with DMD by a specialist physician as a result of gene analysis and/or muscle biopsy,\n* Being between the ages of 5-18,\n* Volunteering by parents to participate in the study and reading and signing the informed consent form.\n\nExclusion Criteria:\n\n* Having a diagnosed neuromuscular disease other than DMD and/or with DMD,\n* Having a diagnosed psychiatric and/or metabolic disease,\n* Having a diagnosis of autism spectrum disorders,\n* Presence of congenital and/or acquired anomalies that may affect communication,\n* The family and/or the child has a problem of cooperation in completing the assessments for any reason,\n* Using a catheter and/or a diaper all day,\n* Having difficulty in understanding and speaking the Turkish language.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-06-25","Study First Submit QC Date":"2022-07-14","Last Update Submit Date":"2022-07-14","Study First Post Date":"2022-07-19","Last Update Post Date":"2022-07-19","Start Date":"2021-10-01","Primary Completion Date":"2022-06-01","Completion Date":"2022-06-20","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The aim of this study is to examine the prevalence of lower urinary tract symptoms (LUTS) in children with Duchenne Muscular Dystrophy (DMD) and the relationship between functional level, posture, muscle strength, pelvic floor muscle control, participation in activities of daily living, and quality of life that may be associated with these symptoms.\n\nForty-five children with DMD between the ages of 5-18 (Age: 9.00±3.32 years, Weight: 31,10±12,59 kg, Height: 125,87±18,46 cm) and their families were included in the study. LUTS was assessed with Dysfunctional Voiding And Incontinence Scoring System, functional level with Brooke Upper Extremity Functional Classification and Vignos Scale, posture with the New York Posture Assessment Questionnaire, Baseline Bubble Inclinometer (10602, Fabrication Enterprises Inc. New York, USA) and Baseline Digital Inclinometer (12-1057, Fabrication Enterprises Inc, New York, USA), participation in activities of daily living was assessed with the Barthel Index and quality of life was assessed with the Pediatric Quality of Life Inventory 3.0 Neuromuscular Module. Also, using the Hoggan microFET2 (Hoggan Scientific, LLC, Salt Lake City UT, USA) device, hip flexors, quadriceps femoris muscles, shoulder flexors, elbow extensors, elbow flexors, trunk extensors and flexors were evaluated in terms of muscle strength. Evaluations were made once, and the associated factors were compared in the group with and without LUTS, and the relationship between the factors and the severity of LUTS was examined.","Conditions":"Duchenne Muscular Dystrophy;Lower Urinary Tract Symptoms;Muscle Weakness;Posture Disorders in Children;Lumbar Lordosis;Pelvic Floor Muscle Weakness;Quality of Life","Phases":null,"Enrollment Count":45,"Primary Outcome Measure":[{"measure": "Lower urinary system symptoms", "description": "It will be investigated how many of the children with DMD participating in the study will have lower urinary system symptoms.", "timeFrame": "1 hour"}, {"measure": "Lower urinary system dysfunction", "description": "It will be investigated how many of the children with DMD participating in the study will have lower urinary system dysfunction.", "timeFrame": "1 hour"}, {"measure": "Muscle strength and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and muscle strength in children with DMD.", "timeFrame": "1 hour"}, {"measure": "Functionality and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and functionality in children with DMD.", "timeFrame": "1 hour"}, {"measure": "Posture and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and posture in children with DMD.", "timeFrame": "1 hour"}, {"measure": "Pelvic floor muscle control and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and pelvic floor muscle control in children with DMD.", "timeFrame": "1 hour"}, {"measure": "Activities of daily living and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and activities of daily living in children with DMD.", "timeFrame": "1 hour"}, {"measure": "Quality of life and lower urinary system symptoms", "description": "It will be investigated whether there is a relationship between lower urinary tract symptoms and quality of life in children with DMD.", "timeFrame": "1 hour"}],"Secondary Outcome Measure":[{"measure": "Urologist evaluation", "description": "It will investigate whether children with DMD have ever been to a urologist in their life.", "timeFrame": "1 hour"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":[{"type": "DEVICE", "name": "Baseline Bubble Inclinometer, Baseline Digital \u0130nclinometer and Hoggan microFET2 devices", "description": "Bubble inclinometer was used to measure lumbar lordosis angle, Digital inclinometer was used to measure pelvic inclination angle and Hoggan microFET2 was used for muscle strength measurement.", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["38822858"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":63,"NCTID":"NCT03368742","Title":"A Randomized, Controlled, Open-label, Single-ascending Dose, Phase I/II Study to Investigate the Safety and Tolerability, and Efficacy of Intravenous SGT-001 in Male Adolescents and Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Solid Biosciences Inc.","Organization Class":"INDUSTRY","Brief Title":"Microdystrophin Gene Transfer Study in Adolescents and Children With DMD","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"This is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years.\n\nThe protocol was amended to drop the control arm after 4 participants were dosed.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Established clinical diagnosis of DMD and documented dystrophin gene mutation predictive of DMD phenotype\n* Confirmed absence of dystrophin as determined by muscle biopsy (ambulatory participants)\n* Anti-AAV9 antibodies below protocol-specified thresholds\n* Stable cardiac and pulmonary function\n* Adolescents: non-ambulatory by protocol-specified criteria\n* Children: ambulatory by protocol-specified criteria\n* Stable daily dose (or equivalent) of oral corticosteroids ≥ 12 weeks\n\nExclusion Criteria:\n\n* Prior or ongoing medical condition or physical examination, ECG or laboratory findings that could adversely affect participant safety, compromise completion of treatment and follow-up, or impair assessment of study results\n* Abnormal liver function\n* Abnormal renal function\n* Clinically significant coagulation abnormalities\n* Impaired cardiovascular function based on cardiac MRI or ECHO\n* Impaired respiratory function based on FVC % predicted or need for daytime ventilatory support\n* Significant spinal deformity or presence of spinal rods\n* Body mass index ≥ 95th percentile for age\n* Exposure to another investigational drug within 3 months or 5 half-lives prior to screening\n* Exposure to drugs affecting dystrophin or utrophin expression within 6 months prior to screening\n\nAdditional inclusion/exclusion criteria may apply.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2017-12-05","Study First Submit QC Date":"2017-12-08","Last Update Submit Date":"2026-03-02","Study First Post Date":"2017-12-11","Last Update Post Date":"2026-03-03","Start Date":"2017-12-06","Primary Completion Date":"2026-10-15","Completion Date":"2026-10-15","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a controlled, open-label, single-ascending dose study to evaluate the safety and tolerability of SGT-001 in adolescents and children with Duchenne muscular dystrophy (DMD). Participants will receive a single intravenous (IV) infusion of SGT-001 and will be followed for approximately 5 years.\n\nThe protocol was amended to drop the control arm after 4 participants were dosed.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Number of Participants with Treatment Emergent Adverse Events (TEAEs)", "timeFrame": "Up to 5 years"}],"Secondary Outcome Measure":[{"measure": "Number of Participants with Clinically Significant Abnormalities in Laboratory Parameters", "timeFrame": "Up to 5 years"}, {"measure": "Number of Participants with Clinically Significant Abnormalities in Vital Signs", "timeFrame": "Up to 5 years"}, {"measure": "Number of Participants with Clinically Significant Abnormalities in Physical Examinations", "timeFrame": "Up to 5 years"}, {"measure": "Number of Participants with Clinically Significant Abnormalities in Electrocardiogram (ECG)", "timeFrame": "Up to 5 years"}, {"measure": "Change from Baseline in Microdystrophin Protein Levels in Muscle Biopsies Using Western Blot (WB)", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in Microdystrophin Protein Levels in Muscle Biopsies Using Immunofluorescence (IF)", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in North Star Ambulatory Assessment (NSAA) score in Ambulatory Participants", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in 6-minute walk test (6MWT) Distance in Ambulatory Participants", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in Total Upper Limb Function, as Measured by the Total Performance of the Upper Limb (PUL) Functional Scale Score", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in Respiratory Function, as Measured by Forced Vital Capacity (FVC) % Predicted, Forced Expiratory Volume in 1 second (FEV1) % Predicted, and Peak Expiratory Flow (PEF) % Predicted", "timeFrame": "Baseline, 12 months"}, {"measure": "Change from Baseline in Ejection Fraction, As Measured by Echocardiography", "timeFrame": "Baseline,12 months"}, {"measure": "Change from Baseline in Left Ventricular End Systolic Volume, As Measured by Echocardiography", "timeFrame": "Baseline,12 months"}, {"measure": "Change from Baseline in Myocardial Peak Circumferential Strain (Ecc), As Measured by Echocardiography", "timeFrame": "Baseline,12 months"}, {"measure": "Change from Baseline in Quality of Life as Measured by the Paediatric Quality of Life Inventory (PedsQL) Duchenne muscular dystrophy (DMD) module and self-reported outcome measures as measured by the PODCI DMD module", "timeFrame": "Baseline, 12 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":17,"Interventions":[{"type": "GENETIC", "name": "SGT-001", "description": "AAV9 vector containing muscle-specific promoter and microdystrophin construct", "armGroupLabels": ["SGT-001 - Dose Level 1", "SGT-001 - Dose Level 2"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["38229112"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":64,"NCTID":"NCT02340923","Title":"A Device for Rapid, Painless, Bedside Muscle Evaluation of Children","Organization Study ID":null,"Organization Full Name":"Skulpt, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Device for Rapid, Painless, Bedside Muscle Evaluation of Children","Status Verified Date":"2016-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of children with a wide variety of neuromuscular conditions.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Duchenne Muscular Dystrophy:\n\nInclusion Criteria:\n\n* 1\\. Age 0-18\n* 2\\. Male\n* 3\\. Genetic or histopathologic diagnosis of duchenne muscular dystrophy, or signs and symptoms of DMD and genetic or histopathologic diagnosis in a family member.\n\nExclusion Criteria:\n\n* 1\\. Age over 18\n* 2\\. Female\n* 3\\. Presence of a superimposed neuromuscular or other medical condition that substantially impacts the individual's health or ability to cooperate.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2014-12-03","Study First Submit QC Date":"2015-01-13","Last Update Submit Date":"2016-08-10","Study First Post Date":"2015-01-19","Last Update Post Date":"2016-08-11","Start Date":"2015-01-01","Primary Completion Date":"2016-06-01","Completion Date":"2016-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this protocol is to perform Electrical Impedance Myography (EIM) testing on healthy children and children with duchenne muscular dystrophy so as to develop a new, convenient tool for the office based assessment of children with a wide variety of neuromuscular conditions.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":327,"Primary Outcome Measure":[{"measure": "Electrical Impedance Myography Measurements", "description": "Up to 11 muscles will be measured using EIM technology. These muscles include: Right Lateral Deltoid, Right Biceps, Right Triceps, Right Wrist Flexors, Right Wrist Extensors, Right Vastus Lateralis, Right Tibialis Anterior, Right Gastrocnemius, Right Gluteus Medius, Right Biceps Femoris, and Right Thoracic Parapinal.", "timeFrame": "Baseline (all subjects) & 3 months, 6 months, 1 year for returning subjects only"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":null,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["31876124"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":65,"NCTID":"NCT02069756","Title":"The Duchenne Registry: an International, Patient-Report Registry for Individuals with Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)","Organization Study ID":null,"Organization Full Name":"The Duchenne Registry","Organization Class":"OTHER","Brief Title":"The Duchenne Registry","Status Verified Date":"2025-02-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of Duchenne or Becker muscular dystrophy; Manifesting female carriers and asymptomatic female carriers also included in registry.\n\nExclusion Criteria:\n\n* Diagnosis of any other type of muscular dystrophy (including limb-girdle muscular dystrophy).","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2013-09-23","Study First Submit QC Date":"2014-02-20","Last Update Submit Date":"2025-02-06","Study First Post Date":"2014-02-24","Last Update Post Date":"2025-02-10","Start Date":"2007-10-01","Primary Completion Date":"2027-10-01","Completion Date":"2047-10-01","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The Duchenne Registry is an online, patient-report registry for individuals with Duchenne and Becker muscular dystrophy and carrier females. The purpose of the Registry is to connect Duchenne and Becker patients with actively recruiting clinical trials and research studies, and to educate patients and families about Duchenne and Becker care and research. At the same time, The Duchenne Registry is a valuable resource for clinicians and researchers in academia and industry, allowing access to de-identified datasets provided by patients and their families-information that is vital to advances in the care and treatment of Duchenne. The Duchenne Registry is a member of the TREAT-NMD Neuromuscular Network.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":null,"Enrollment Count":10000,"Primary Outcome Measure":[{"measure": "Genetic variant", "description": "Genetic variant data is collected by patient report and verified by curation/review of genetic test report when provided. Genetic test report is requested for each registrant and is required for participation in global DMD (TREAT-NMD) registry.", "timeFrame": "Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime."}],"Secondary Outcome Measure":[{"measure": "Ambulation status", "description": "Ambulation status is assessed from several questions about mobility, ability to sit and stand, use of assistive devices, and age at full time wheelchair use.", "timeFrame": "Registrants are requested to update their medical history every 6-12 months, and they will be followed throughout their lifetime."}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["22453902", "25635234", "23913485", "25604253", "29125504", "29907980", "31046703", "31573675", "32417793", "36245385"],"See Also Links":["http://www.duchenneregistry.org/", "https://treat-nmd.org/", "http://www.parentprojectmd.org"],"On Roche Website":false,"Roche Website URL":null},{"_id":66,"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 Ltd.","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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":67,"NCTID":"NCT05281120","Title":"Low-level Mechanical Vibration, Bone Density, Bone Resorption and Muscular Strength in Ambulant Children Affected by Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Istituto Auxologico Italiano","Organization Class":"OTHER","Brief Title":"Effects of Low-level Mechanical Vibration on Bone Density in Ambulant Children Affected by Duchenne Muscular Dystrophy","Status Verified Date":"2022-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Duchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle degeneration and substitution with fat and connective tissue. The progressive muscle degeneration leads to loss of autonomous walking before the age of 15 years and death for cardiac and/or respiratory failure. There are no specific treatment for DMD, and the standard of care is now based on long-term corticosteroid (CS) use. The studies on bone mass in DMD are very few, but they agree in reporting the presence of a reduced bone mass and an increased rate of fractures probably due to long-term steroid therapy and disuse-osteopenia. The aim of this study, involving 20 ambulant DMD boys (age 7-10 years) has been the evaluation of the effects of low-level mechanical vibrations on bone in a group of ambulant DMD children for 1 year, with RDA-adjusted dietary calcium intake and 25OH vitamin D supplementation.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of DMD\n* Ability to stand up and walk (some balance assistance allowed, but full weight-bearing necessary)\n* All the children must already be on glucocorticoid therapy for at least 6 months before the start of the study.\n\nExclusion Criteria:\n\n* Presence of other diseases interfering with bone density and bone turnover\n* The inability to regularly use the vibratory platform.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-02-18","Study First Submit QC Date":"2022-03-10","Last Update Submit Date":"2022-03-10","Study First Post Date":"2022-03-16","Last Update Post Date":"2022-03-16","Start Date":"2006-11-01","Primary Completion Date":"2007-05-01","Completion Date":"2007-11-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":null,"Detailed Description":"Duchenne muscular dystrophy (DMD) is a X-linked recessive disorder due to a mutation of the dystrophin gene (Xp21). Dystrophin is a sarcolemmal protein of skeletal and cardiac muscle, and its absence causes progressive muscle degeneration and substitution with fat and connective tissue. The progressive muscle degeneration leads to loss of autonomous walking before the age of 15 years and death for cardiac and/or respiratory failure. There are no specific treatment for DMD, and the standard of care is now based on long-term corticosteroid (CS) use. The studies on bone mass in DMD are very few, but they agree in reporting the presence of a reduced bone mass and an increased rate of fractures probably due to long-term steroid therapy and disuse-osteopenia. The aim of this study, involving 20 ambulant DMD boys (age 7-10 years) has been the evaluation of the effects of low-level mechanical vibrations on bone in a group of ambulant DMD children for 1 year, with RDA-adjusted dietary calcium intake and 25OH vitamin D supplementation.","Conditions":"Osteoporosis;Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Change in bone mineral density at lumbar spine.", "description": "Bone mineral density evaluated by DXA. Bone mineral apparent density calculated to correct for bone size (growing subjects). Z-score calculated.\n\nMeasurements: baseline and 12 months.", "timeFrame": "baseline and 12th month"}],"Secondary Outcome Measure":[{"measure": "Calcium", "description": "changes in serum calcium (mg/dL)", "timeFrame": "baseline and 12th month"}, {"measure": "Phosphate", "description": "changes in serum phosphate (mg/dL)", "timeFrame": "baseline and 12th month"}, {"measure": "Magnesium", "description": "changes in serum magnesium (mg/dL)", "timeFrame": "baseline and 12th month"}, {"measure": "Creatinine", "description": "changes in serum creatinine (mg/dL)", "timeFrame": "baseline and 12th month"}, {"measure": "Bone Alkaline Phosphatase", "description": "changes in serum bone alkaline phosphatase (\u00b5g/L)", "timeFrame": "baseline and 12th month"}, {"measure": "Osteocalcin", "description": "changes in serum osteocalcin (\u00b5g/L)", "timeFrame": "baseline and 12th month"}, {"measure": "Parathyroid Hormone", "description": "changes in serum parathyroid hormone (ng/L)", "timeFrame": "baseline and 12th month"}, {"measure": "25-OH vitamin D", "description": "changes in serum 25-OH vitamin D (\u00b5g/L)", "timeFrame": "baseline and 12th month"}, {"measure": "1,25(OH)2 vitamin D", "description": "changes in serum 1,25(OH)2 vitamin D (ng/L)", "timeFrame": "baseline and 12th month"}],"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":10,"Interventions":[{"type": "DEVICE", "name": "Low-level mechanical vibrations WITH vertical sinusoidal acceleration", "description": "Small platform designed to induce vertical, sinusoidal acceleration.", "armGroupLabels": ["mechanical intervention group"]}, {"type": "DEVICE", "name": "Low-level mechanical vibrations WITHOUT vertical sinusoidal acceleration", "description": "Small platform designed to NOT induce vertical, sinusoidal acceleration", "armGroupLabels": ["mechanical placebo group"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["8289083", "2657428", "10951436", "11148511", "8506892", "6866054", "685891", "11059528", "11041898", "3225269", "1805545", "8040762", "9666939", "8609931", "10641693", "11856925", "12418795", "7942156", "11506212", "11801403", "12897980", "12115950", "16824816", "16939405", "15040823"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":68,"NCTID":"NCT05967351","Title":"A Phase 3, Multinational, Long-term Follow-up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical Study","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Long-term Follow-up Study of Participants Who Received Delandistrogene Moxeparvovec (SRP-9001) in a Previous Clinical Study","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"The purpose of this study is to provide a single clinical study with a uniform approach to monitoring long-term safety and efficacy in participants who received delandistrogene moxeparvovec in a previous clinical study. No study drug will be administered as part of this study.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Received delandistrogene moxeparvovec for Duchenne muscular dystrophy in a previous clinical study.\n* Has (a) parent(s) or legal caregiver(s) or is ≥18 years of age and able to understand and comply with the study visit schedule and all other protocol requirements.\n\nExclusion Criteria:\n\n* Not applicable","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-07-21","Study First Submit QC Date":"2023-07-21","Last Update Submit Date":"2026-02-04","Study First Post Date":"2023-08-01","Last Update Post Date":"2026-02-06","Start Date":"2023-09-27","Primary Completion Date":"2033-10-31","Completion Date":"2033-10-31","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"The purpose of this study is to provide a single clinical study with a uniform approach to monitoring long-term safety and efficacy in participants who received delandistrogene moxeparvovec in a previous clinical study. No study drug will be administered as part of this study.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":400,"Primary Outcome Measure":[{"measure": "Number of Participants with a Treatment-emergent Adverse Event (TEAE), Serious Adverse Event (SAE), and Adverse Event of Special Interest (AESI)", "timeFrame": "Up to 10 years"}],"Secondary Outcome Measure":[{"measure": "Change in the North Star Ambulatory Assessment (NSAA) Total Score From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Time to Rise From Floor From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in the Time of 10-meter Walk/Run (10MWR) From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Performance of Upper Limb (PUL) (Version 2.0) Total Scores From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in PUL (Version 2.0) Domain Specific Scores From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Forced Vital Capacity Percent (FVC%) Predicted From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Peak Expiratory Flow Percent (PEF%) Predicted From Pre-infusion Baseline to the End of the Study Participation of Delandistrogene Moxeparvovec", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Cardiac Magnetic Resonance Imaging (MRI) Findings From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}, {"measure": "Change in Musculoskeletal MRI Findings From Pre-infusion Baseline of Delandistrogene Moxeparvovec to the End of the Study Participation", "timeFrame": "Baseline, up to 10 years"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "GENETIC", "name": "delandistrogene moxeparvovec", "description": "No study drug will be administered as part of this study. Eligible participants who received treatment with delandistrogene moxeparvovec during a previous clinical study will be included.", "armGroupLabels": ["Delandistrogene Moxeparvovec"], "otherNames": ["SRP-9001", "delandistrogene moxeparvovec-rokl", "ELEVIDYS"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":69,"NCTID":"NCT02034305","Title":"Pilot Study of Cough Peak Flow And Airway Clearance in Pediatric Patients With Neuromuscular Disease","Organization Study ID":null,"Organization Full Name":"University of Pittsburgh","Organization Class":"OTHER","Brief Title":"Peak Cough Flow and Cough Clearance in Patients With Muscular Dystrophy","Status Verified Date":"2021-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This study is to determine whether physiologic measures (peak cough flow, measures of respiratory muscle strength including MIP, MEP ,SNIP, and spirometry) can predict spontaneous cough clearance (as measured by a nuclear medicine study) in children with neuromuscular disease. It will also determine whether airway clearance is augmented by high frequency chest wall oscillation.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Age 6-21; able to cooperate with study procedures\n* Duchenne Muscular Dystrophy OR Becker Muscular Dystrophy\n\nExclusion Criteria:\n\n* Need for mechanical ventilation during the day\n* Recent (within 2 weeks) lower respiratory tract infection","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2014-01-09","Study First Submit QC Date":"2014-01-10","Last Update Submit Date":"2024-02-02","Study First Post Date":"2014-01-13","Last Update Post Date":"2024-02-05","Start Date":"2014-01-01","Primary Completion Date":"2021-01-01","Completion Date":"2021-01-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"This study is to determine whether physiologic measures (peak cough flow, measures of respiratory muscle strength including MIP, MEP ,SNIP, and spirometry) can predict spontaneous cough clearance (as measured by a nuclear medicine study) in children with neuromuscular disease. It will also determine whether airway clearance is augmented by high frequency chest wall oscillation.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":7,"Primary Outcome Measure":[{"measure": "Spontaneous cough clearance", "timeFrame": "Assessed at multiple time points over 30 minutes"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":21,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["35293696"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":70,"NCTID":"NCT06925269","Title":"Duchenne Muscular Dystrophy Quality of Life: Qualitative Interviews With Patients and Caregivers","Organization Study ID":null,"Organization Full Name":"Red Nucleus Enterprise Solutions, LLC","Organization Class":"INDUSTRY","Brief Title":"DMD Voice: Qualitative Interviews With Patients and Caregivers","Status Verified Date":"2025-04-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The purpose of this study is to understand DMD functional losses or abilities and their association with independence and quality of life from the perspective of individuals with DMD and/or and their caregivers.\n\nThis is a qualitative interview study in which individuals with DMD and/or their caregivers will be asked to participate in a semi-structured, approximately 60- minute interview. Interviews will focus on functional abilities and independence. Caregivers and boys with DMD will be interviewed. This study includes no treatment nor intervention; however, some participants are being treated by a drug that is approved in the U.S. and the U.K. and under investigation in other geographies.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nSubsample A - Patients\n\nEligible participants for Subsample A must:\n\n* Have been treated with Givinostat for at least 2 years\n* Be at least 10 years of age with signed consent of a parent or legal guardian\n* Be currently taking givinostat\n* Willing and able to participate in a video and/or audio recorded interview\n\nSubsample A - Caregivers\n\nEligible caregivers for Subsample A must:\n\n* Be a parent or legal guardian of an individual with DMD that has been taking givinostat for at least two years\n* Willing and able to participate in a video and/or audio recorded interview\n\nSubsample B - Caregivers\n\nEligible caregivers for Subsample B must:\n\n* Provide care to an individual with DMD who is unable to raise their hands above their head as confirmed by the caregiver\n* Reside in the United States or Canada\n* Able to read, speak, and understand English\n* Willing and able to participate in a video and/or audio recorded interview Have access to a stable internet connection\n\nExclusion Criteria:\n\n\\-","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-04-03","Study First Submit QC Date":"2025-04-10","Last Update Submit Date":"2025-04-29","Study First Post Date":"2025-04-13","Last Update Post Date":"2025-04-30","Start Date":"2025-03-31","Primary Completion Date":"2025-12-01","Completion Date":"2026-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The purpose of this study is to understand DMD functional losses or abilities and their association with independence and quality of life from the perspective of individuals with DMD and/or and their caregivers.\n\nThis is a qualitative interview study in which individuals with DMD and/or their caregivers will be asked to participate in a semi-structured, approximately 60- minute interview. Interviews will focus on functional abilities and independence. Caregivers and boys with DMD will be interviewed. This study includes no treatment nor intervention; however, some participants are being treated by a drug that is approved in the U.S. and the U.K. and under investigation in other geographies.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":null,"Enrollment Count":68,"Primary Outcome Measure":[{"measure": "Qualitative Interview", "description": "Participants will participate in a semi-structured interview", "timeFrame": "60 minutes"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":10,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":71,"NCTID":"NCT07188012","Title":"A Pilot Study for the Safety and Expression of Dystrophin in Skeletal Muscle After SPOT-mRNA03 Administration in Duchenne Muscular Dystrophy (DMD) Patients","Organization Study ID":null,"Organization Full Name":"Shanghai Siponuoyin Biotechnology Co Ltd","Organization Class":"INDUSTRY","Brief Title":"Safety and Dystrophin Expression of SPOT-mRNA03 in Duchenne Muscular Dystrophy (DMD) Patients","Status Verified Date":"2025-09-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"The primary objective of this study is to evaluate the safety and and tolerability of SPOT-mRNA03 administered by intravenous (IV) infusion to DMD patients. In addition, this study will preliminarily investigate the concentration changes in dystrophin mRNA concentration, dystrophin protein expression and engraftment, as well as cytokine profiles and immunogenicity.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. According to the requirements of the region/country and/or IRB/IEC, the patient and/or legal guardian have signed a written informed consent form and are aware of all relevant study content.\n2. Ambulatory boys aged between 2 to 6 years of age, inclusive who can work without assistance for at least 10 meters.\n3. The medical history includes clinical diagnosis of DMD and confirmed Duchenne mutations using validated genetic testing (MLPA and whole genome sequencing).\n4. Able to tolerate muscle biopsy under anesthesia and have no contraindications to biopsy.\n5. Heart, liver, lung, and kidney functions are sufficient:\n\n   1. The left ventricular ejection fraction (LVEF) should be ≥ 50%;\n   2. Forced vital capacity (FVC) \\> 50% of the expected value, and do not require nighttime ventilation;\n   3. Patient's glomerular filtration rate (GFR)\\>30 mL/min/1.73 m2\n\nExclusion Criteria:\n\n1. Complications other than DMD that may cause muscle weakness and/or motor dysfunction.\n2. There are severe intellectual disabilities (such as severe autism, severe cognitive impairment, and severe behavioral disorders) that, according to the investigator's judgment, can affect the study.\n3. Hospitalization for respiratory failure within 8 weeks prior to screening.\n4. Asthma or underlying lung diseases that are poorly controlled, such as bronchitis, bronchiectasis, emphysema, or recurrent infectious pneumonia that investigator believes may affect respiratory function.\n5. Severe uncontrolled heart failure (NYHA III-IV), including any of the following conditions：\n\n   1. Intravenous administration of diuretics or positive inotropic drugs is required within 8 weeks prior to screening.\n   2. Hospitalization due to worsening heart failure or arrhythmia within 8 weeks prior to screening.\n6. Abnormal laboratory values considered clinically significant:\n\n   1. GGT \\> 3 × upper limit of normal\n   2. Bilirubin ≥ 3.0 mg/dL\n   3. Creatinine ≥ 1.8 mg/dL\n   4. Hemoglobin \\< 8 or \\> 18 g/dL\n   5. White blood cell count \\> 18,500/μL\n7. Arrhythmias that require anti-arrhythmic treatment.\n8. Subjects who are undergoing immunosuppressive therapy.\n9. Has used other gene therapy, investigational drugs, or any treatment aimed at increasing dystrophin expression.\n10. Subjects with a history of major surgeries within 12 weeks prior to the initial infusion or planning to undergo major surgeries (such as scoliosis surgery) during this study.\n11. Subjects who are allergic to investigational products or local aesthetic drugs or have a history of severe allergies or genetic allergic reactions.\n12. Within 6 months prior to the initial infusion, the subjects are exposed to another investigational drug or have participated in an intervention clinical trial.\n13. Subjects with positive hepatitis B core antibody or hepatitis C antibody or HIV antibody during screening.\n14. Investigator believes that the presence of any other serious diseases, medical conditions, or chronic drug treatment needs can pose unnecessary risks to gene transfer.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-08-22","Study First Submit QC Date":"2025-09-15","Last Update Submit Date":"2025-09-15","Study First Post Date":"2025-09-23","Last Update Post Date":"2025-09-23","Start Date":"2025-08-06","Primary Completion Date":"2026-12-01","Completion Date":"2026-12-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The primary objective of this study is to evaluate the safety and and tolerability of SPOT-mRNA03 administered by intravenous (IV) infusion to DMD patients. In addition, this study will preliminarily investigate the concentration changes in dystrophin mRNA concentration, dystrophin protein expression and engraftment, as well as cytokine profiles and immunogenicity.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["EARLY_PHASE1"],"Enrollment Count":6,"Primary Outcome Measure":[{"measure": "Number of Participants with Treatment-Related Adverse Events Following Intravenous (IV) Infusion of SPOT-mRNA03 in DMD patients", "description": "Safety and tolerability of SPOT-mRNA03 will be assessed by collection and quantification of all adverse events, graded according to Common Terminology Criteria for Adverse Events (CTCAE) v5.0.", "timeFrame": "From enrollment through 6 months post-treatment"}],"Secondary Outcome Measure":[{"measure": "Concentration of Dystrophin mRNA in Serum", "description": "Dystrophin mRNA concentration measured in serum of DMD patients before and after IV infusion of SPOT-mRNA03. Quantification is performed by qPCR.", "timeFrame": "16 weeks"}, {"measure": "Concentration of Dystrophin mRNA in Muscles", "description": "Dystrophin mRNA concentration measured in muscles of DMD patients at baseline and after the last IV infusion (dose 8) of SPOT-mRNA03. Quantification is performed by qPCR.", "timeFrame": "4 weeks"}, {"measure": "Percent of Normal Dystrophin Protein Expression in Muscles", "description": "Dystrophin protein measured in muscles of DMD patients at baseline and after the last IV infusion (dose 8) of SPOT-mRNA03, expressed as percent of the mean wild-type level in healthy individuals without DMD or Becker muscular dystrophy. Quantification is performed by Western Blot.", "timeFrame": "4 weeks"}, {"measure": "Percentage of Dystrophin-Positive Fibers in Muscles", "description": "Fiber intensity and dystrophin-positive fibers measured in muscles of DMD patients at baseline and after the last IV infusion (dose 8) of SPOT-mRNA03. Quantification is performed by Immunohistochemistry (IHC).", "timeFrame": "4 weeks"}, {"measure": "Concentration of Cytokines in Serum", "description": "Immunogenicity assessment will be measured by evaluating the changes of cytokines levels (TNF-\u03b1, INF-\u03b3, IL-2, IL-6, and IL-10) in the serum of DMD patients before and after IV infusion of SPOT-mRNA03. Quantification is performed by enzyme-linked immunosorbent assay (ELISA).", "timeFrame": "28 weeks"}, {"measure": "Concentration of Anti-Dystrophin Antibody in Serum", "description": "Anti-dystrophin antibody concentration measured in the serum of DMD patients before and after IV infusion of SPOT-mRNA03. Quantification is performed by enzyme-linked immunosorbent assay (ELISA).", "timeFrame": "28 weeks"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":6,"Interventions":[{"type": "GENETIC", "name": "mRNA", "description": "mRNA therapy delivered by extracellular vesicles (EVs)", "armGroupLabels": ["Low Dose and High Dose"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":72,"NCTID":"NCT04782440","Title":"The Effect of Telerehabilitation of Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Marmara University","Organization Class":"OTHER","Brief Title":"The Effect of Telerehabilitation of Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2021-03-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"The aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the intervention","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Patients with Duchenne muscular dystrophy\n\nExclusion Criteria:\n\n* Patients without the ability of independent ambulation","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2021-03-02","Study First Submit QC Date":"2021-03-02","Last Update Submit Date":"2021-03-02","Study First Post Date":"2021-03-04","Last Update Post Date":"2021-03-04","Start Date":"2021-04-01","Primary Completion Date":"2021-08-01","Completion Date":"2021-09-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The aim of this study is to investigate the effect of a telerehabilitation approach to patients with Duchenne Muscular Dystrophy and evaluate patients' motor function, parents' anxiety and depression levels before and after the intervention","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Quick motor function test", "timeFrame": "2 months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":[{"type": "OTHER", "name": "Telerehabilitaton", "description": "Patients will receive telerehabilitation sessions that include strengthening, stretching and range of motion exercises", "armGroupLabels": ["Telerehabilitation"]}, {"type": "OTHER", "name": "Home exercise", "description": "Patients will be given a home-based exercise program without telerehabilitation supervision", "armGroupLabels": ["Home exercise"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":73,"NCTID":"NCT05291091","Title":"A Phase 2 Randomized, Double-blind, Placebo-controlled Study to Evaluate the Effect of EDG-5506 on Safety, Biomarkers, Pharmacokinetics, and Functional Measures in Adults and Adolescents With Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Edgewise Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Phase 2 Study of EDG-5506 in Becker Muscular Dystrophy (GRAND CANYON)","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"A study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker.\n\nCANYON and GRAND CANYON are fully enrolled.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"The CANYON Study including the adolescent cohorts are fully enrolled.\n\nGRAND CANYON eligibility is listed below.\n\nKey Inclusion Criteria:\n\n1. Adults (aged 18 to 50 years, inclusive) with a documented dystrophin mutation and phenotype consistent with Becker muscular dystrophy, and history of being ambulatory beyond 16 years of age without steroids; history of being ambulatory beyond 18 years of age with steroids.\n2. Able to complete the 100-meter timed test in \\< 200 seconds with or without use of mobility aid devices.\n3. Able to perform the North Star Ambulatory Assessment scale and achieve a score of 5 to 32, inclusive.\n\nKey Exclusion Criteria:\n\n1. Medical history or clinically significant physical examination/laboratory result that, in the opinion of the investigator, would render the participant unsuitable for the study. This includes contraindications to magnetic resonance imaging such as non-compatible implanted medical devices or severe claustrophobia.\n2. Cardiac echocardiogram ejection fraction \\< 40%\n3. Forced vital capacity predicted \\<60% or using daytime ventilatory support\n4. Receipt of oral corticosteroids for the treatment of BMD in the previous 6 months.\n5. Receipt of an investigational drug within 30 days or 5 half-lives (whichever is longer) of the screening visit in the present study.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-03-14","Study First Submit QC Date":"2022-03-14","Last Update Submit Date":"2026-03-23","Study First Post Date":"2022-03-22","Last Update Post Date":"2026-03-24","Start Date":"2022-11-10","Primary Completion Date":"2026-09-01","Completion Date":"2026-09-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"A study of sevasemten (EDG-5506) in Becker muscular dystrophy (known as CANYON) and pivotal cohort (known as GRAND CANYON). The EDG-5506-201 CANYON study was expanded to include an additional 120 adult participants in a cohort called GRAND CANYON, that is a multicenter, randomized, double-blind, placebo-controlled study to evaluate the safety and efficacy of sevasemten in adults with Becker.\n\nCANYON and GRAND CANYON are fully enrolled.","Conditions":"Becker Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":244,"Primary Outcome Measure":[{"measure": "Number of adverse events in those treated with sevasemten or placebo", "description": "All participants", "timeFrame": "12 months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)"}, {"measure": "Severity of adverse events in those treated with sevasemten or placebo", "description": "All participants", "timeFrame": "12 months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in serum Creatine Kinase", "description": "Adult participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2)"}, {"measure": "Change from Baseline in the North Star Ambulatory Assessment scale", "description": "Adult participants", "timeFrame": "18 months (GRAND CANYON Cohort 6)"}],"Secondary Outcome Measure":[{"measure": "Change from Baseline in the protein fast skeletal muscle Troponin I", "description": "Adult participants", "timeFrame": "12 months (CANYON Cohorts 1, 2), 18 months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in the North Star Ambulatory Assessment scale", "description": "Adult participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2)"}, {"measure": "Change from Baseline in the North Star Assessment for Limb-Girdle Type Muscular Dystrophies scale", "description": "Adult participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in the 10-meter walk/run test", "description": "Adult participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in 100-meter timed test", "description": "Adult participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2), 18 Months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in stride velocity (95th percentile)", "description": "Adult participants", "timeFrame": "18 Months (GRAND CANYON Cohort 6)"}, {"measure": "Pharmacokinetics as measured by steady state plasma concentration", "description": "All participants", "timeFrame": "12 Months (CANYON Cohorts 1, 2, 4, 5), 18 months (GRAND CANYON Cohort 6)"}, {"measure": "Change from Baseline in growth as assessed by height centile on World Health Organization growth charts", "description": "Adolescent participants", "timeFrame": "12 months (CANYON Cohorts 4, 5)"}, {"measure": "Month 18 change from Baseline in fat fraction of upper leg muscles as assessed by Magnetic Resonance Imaging", "description": "Adult participants", "timeFrame": "18 months (GRAND CANYON Cohort 6)"}],"Healthy Volunteers":false,"Minimum Age (Years)":12,"Maximum Age (Years)":50,"Interventions":[{"type": "DRUG", "name": "Sevasemten 10 mg", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Adult Cohort 1", "Adult Cohort 2", "Adult Cohort 6"]}, {"type": "DRUG", "name": "Sevasemten 5 mg", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Adolescent Cohort 4"]}, {"type": "DRUG", "name": "Sevasemten 12.5 mg", "description": "Sevasemten is administered orally once per day", "armGroupLabels": ["Adolescent Cohort 5"]}, {"type": "DRUG", "name": "Placebo", "description": "Placebo is administered orally once per day", "armGroupLabels": ["Adolescent Cohort 4", "Adolescent Cohort 5", "Adult Cohort 1", "Adult Cohort 2", "Adult Cohort 6"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":["http://www.edgewisetx.com"],"On Roche Website":false,"Roche Website URL":null},{"_id":74,"NCTID":"NCT06328725","Title":"A Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"ENCell","Organization Class":"INDUSTRY","Brief Title":"Evaluate the Efficacy and Safety of EN001 in Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2024-03-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"A Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular Dystrophy","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Males aged between 6 and 11 years at the time of providing written consent.\n2. Individuals exhibiting phenotypic signs of Duchenne Muscular Dystrophy (DMD), such as lower limb muscle weakness, a duck walk, or Gower's sign, and who are diagnosed with DMD following confirmation of a dystrophin gene mutation through genetic testing.\n3. Participants who meet the Time to Stand Test (TTSTAND) criteria without the use of assistive devices or help from others during screening and baseline assessments:\n\n   * Phase 1: Capable of completing the TTSTAND evaluation.\n   * Phase 2: TTSTAND time of 10 seconds or less.\n4. Participants with a 6-Minute Walk Test (6MWT) result of 75 meters or more at screening and baseline.\n5. Individuals who meet the following laboratory test criteria at the time of screening and baseline:\n\n   * Hemoglobin ≥10 g/dL\n   * Platelet ≥50,000/μL\n   * Serum albumin ≥2.5 g/dL\n   * Gamma glutamyl transferase (γ-GT) and total bilirubin ≤ upper limit of normal (ULN)\n   * Serum creatinine ≤ 1.5 x ULN\n6. Participants who have been on a stable dose of glucocorticoids for at least 12 weeks prior to screening, with treatment maintained. Dosage adjustments for body weight changes are allowed.\n7. Individuals who, along with their representatives when applicable, have voluntarily agreed in writing to participate in this clinical trial.\n\nExclusion Criteria:\n\n1. Individuals with confirmed comorbidities at the time of screening:\n\n   * Left ventricular ejection fraction (LVEF) below 50%, as determined by echocardiography\n   * Percent predicted forced vital capacity (FVC%) less than 35%\n   * Positive for Hepatitis B surface antigen (HBsAg). However, individuals undergoing interferon or antiviral treatment can register\n   * Positive for Hepatitis C virus antibody (HCV Ab). Registration is possible if the HCV ribonucleic acid (RNA) test result is negative\n   * Positive for Human immunodeficiency virus (HIV) antibody\n   * Comorbidities that are uncontrollable or require treatment that could affect the safety and efficacy evaluation of this clinical trial, based on the investigator's judgment\n2. Individuals with confirmed treatment history at the time of screening:\n\n   * Administration of cell therapy or gene therapy throughout life\n   * Administer antisense oligonucleotide (e.g., exon skipping treatment) or stop- codon readthrough treatment (e.g., aminoglycoside, ataluren) within 24 weeks before screening.\n   * Administration of the following medications within 12 weeks before screening: Idebenone, Resveratrol, Adenosine triphosphate\n   * Administration of the following medications within 12 weeks before screening. However, registration is possible if the drug is being administered at a stable dose for at least 12 weeks before screening and the dose is expected to remain unchanged during the clinical trial period. Angiotensin-converting enzyme (ACE) inhibitor Angiotensin II receptor blocker (ARB) Beta-blocker Aldosterone antagonist Ivabradine Sacubitril Growth hormone Anabolic steroids\n   * Major surgery within 12 weeks before screening or expected major surgery during the clinical trial period.\n   * Use of other investigational products (or medical devices) within 4 weeks before screening.\n   * Use of systemic immunosuppressants other than systemic glucocorticoids.\n3. Individuals requiring mechanical ventilation during the day.\n4. Persons with hypersensitivity to the components of the clinical investigational products.\n5. Individuals unwilling to use appropriate contraception from the date of written consent to the termination visit:\n\n   * Appropriate contraceptive methods are as follows, and use more than one method.\n\n     * The use of hormonal contraceptives by the partner\n     * Implantation of an intrauterine device or system in your partner\n     * Sterilization or surgical procedures for you or your partner\n6. Others who, in the investigator's discretion, are not willing or able to comply with the clinical trial procedures.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-02-19","Study First Submit QC Date":"2024-03-18","Last Update Submit Date":"2024-03-18","Study First Post Date":"2024-03-25","Last Update Post Date":"2024-03-25","Start Date":"2024-03-01","Primary Completion Date":"2025-11-01","Completion Date":"2025-11-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"A Multi-center, Randomized, Double-blind, Placebo-controlled, Phase 1/2 Trial to Evaluate the Efficacy and Safety of EN001 in Patients with Duchenne Muscular Dystrophy","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":88,"Primary Outcome Measure":[{"measure": "<Phase 1> Adverse drug reactions related to dose limiting toxicity (DLT)", "description": "Present the frequency and percentage of dose-limiting toxicity (DLT) occurrence across dose cohorts, along with detailed information on the types of DLTs.", "timeFrame": "Up to 14 weeks"}, {"measure": "<Phase 1> Adverse drug reactions related to discontinuation of clinical trial drug administration", "description": "Present the frequency and percentage of dose-limiting toxicity (DLT) occurrence across dose cohorts, along with detailed information on the types of DLTs.", "timeFrame": "Up to 14 weeks"}, {"measure": "<Phase 2> Change in time to stand test (TTSTAND)", "description": "Present the changes in time to stand test (TTSTAND) at the 48-week time point compared to baseline (Visit 2). Provide the subject count, mean, standard deviation, median, minimum, and maximum for the change in each treatment group. Analyze the change as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline TTSTAND values and age as fixed effects in the analysis.", "timeFrame": "At 48 weeks compared to baseline (Visit 2)"}],"Secondary Outcome Measure":[{"measure": "<Phase 1> Time to stand test (TTSTAND) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> TTSTAND velocity (1/TTSTAND) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Time to run/walk 10 meters test (TTRW) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36,, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> TTRW velocity (1/TTRW) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> North Star Ambulatory Assessment (NSAA) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Time to climb 4 steps test (TTCLIMB) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> TTCLIMB velocity (1/TTCLIMB) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> 6-minute walk test (6MWT) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Changes amount in muscle strength by region", "description": "The changes in shoulder abduction, elbow flexion/extension, knee flexion/extension, and handgrip are evaluated using hand-held myometry. (Unit: lbs)\n\nPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Changes amount in parameters related to pulmonary function", "description": "Through spirometry testing, % predicted forced vital capacity (FVC%), forced vital capacity (FVC, unit L), forced expiratory volume in one second (FEV1), peak expiratory flow rate (PEFR), maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP).\n\nPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 12, 24, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Changes amount in parameters related to cardiac function", "description": "Through echocardiography, changes in left ventricular ejection fraction (LVEF), fractional shortening (FS), and left ventricular end-diastolic diameter (LVEDd) are evaluated.\n\nPresent the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "At 48 weeks compared to screening (Visit 1)"}, {"measure": "<Phase 1> Change rate of creatine kinase (CK) at each visit after administration of investigational product compared to baseline (Visit 2)", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for the changes at each time point within each dosage group.", "timeFrame": "From baseline"}, {"measure": "<Phase 2> Time to stand test (TTSTAND) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, and 36 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> TTSTAND velocity (1/TTSTAND) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Time to run/walk 10 meters test (TTRW) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> TTRW velocity (1/TTRW) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> North Star Ambulatory Assessment (NSAA) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Time to climb 4 steps test (TTCLIMB) change", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> TTCLIMB velocity (1/TTCLIMB) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> 6-minute walk test (6MWT) change amount", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Changes amount in muscle strength by region", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 6, 12, 18, 24, 36, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Changes amount and rate of change in whole thigh muscle volume and index assessed by MRI", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 48 weeks compared to screening (Visit 1)"}, {"measure": "<Phase 2> Changes amount in parameters related to pulmonary function", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 12, 24, and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Changes amount in parameters related to cardiac function", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 48 weeks compared to screening (Visit 1)"}, {"measure": "<Phase 2> Change rate of creatine kinase (CK) at each visit after administration of investigational product compared to baseline (Visit 2)", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "From baseline"}, {"measure": "<Phase 2> Pediatric Outcomes Data Collection Instrument (PODCI) item score and total score change", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 24 and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 2> Pediatric Quality of Life inventory\u2122 (PedsQL\u2122) item scores and total score change", "description": "Present the subject count, mean, standard deviation, median, minimum, and maximum for changes at each time point and for each dosage group. Analyze the change (or percentage change) as the dependent variable using a repeated measures mixed model (MMRM) with treatment group, visit (6, 12, 18, 24, 36, 48 weeks), and the interaction between treatment group and visit as factors. Include baseline (or screening) values of each assessment variable, age, and a stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as fixed effects in the analysis. However, for variables related to TTSTAND, do not include the stratification factor (TTSTAND \u2264 8 seconds / \\> 8 seconds) as a fixed effect.", "timeFrame": "At 24 and 48 weeks compared to baseline (Visit 2)"}, {"measure": "<Phase 1> Adverse Event", "description": "After the application of the investigational medicinal product in the clinical trial, provide the number of subjects, incidence rate, and number of occurrences for adverse events, drug-related adverse events, serious adverse events, serious drug-related adverse events, adverse events related to discontinuation of the investigational medicinal product, drug-related adverse events related to discontinuation of the investigational medicinal product, and injection-related adverse events, categorized by dosage group. Additionally, code the occurrences by system organ class (SOC) and preferred term (PT) using the Medical Dictionary for Regulatory Activities (MedDRA), and present the number of subjects, incidence rate, and number of occurrences for each dosage group according to SOC and PT.", "timeFrame": "Up to 48weeks. However, adverse drug reactions that persist at the end of the clinical trial will be followed up until the possible adverse reactions are resolved or it is determined that further follow-up is not meaningful."}, {"measure": "<Phase 1> Laboratory examination", "description": "Number of participants with clinically significant abnormalities in Laboratory parameters after EN001 administration.\n\nHematological tests, Blood chemical tests, Blood coagulation test, Urine test, Serum virus test\n\nIt is conducted through blood and urine collection, and the PI checks whether the test results are normal, abnormal, and clinically significant.", "timeFrame": "Up to 48weeks. At Baseline and Week 4, tests are conducted before and within 4 hours after administration of the investigational drug, and PT INR and aPTT are performed only at the screening visit."}, {"measure": "<Phase 1> Vital sign", "description": "Number of participants with clinically significant abnomalities in vital signs after EN001 administration.\n\nVital Signs include blood pressure (mmHg), pulse (times/minute), respiratory rate (times/minute), and body temperature (\u2103) and will be assessed.\n\nFor changes at each time point within each dosage group, present continuous variables with subject count, mean, standard deviation, median, minimum, and maximum. For categorical variables, provide frequency and percentage.", "timeFrame": "Up to 48weeks."}, {"measure": "<Phase 2> Adverse Event", "description": "After the administration of the investigational product in the clinical trial, provide the number of subjects, incidence rate, and number of occurrences for adverse events, drug-related adverse events, serious adverse events, serious drug-related adverse events, adverse events related to discontinuation of the investigational product, drug-related adverse events related to discontinuation of the investigational product, and injection-related adverse events, categorized by treatment group. Additionally, code the occurrences by system organ class (SOC) and preferred term (PT) using the Medical Dictionary for Regulatory Activities (MedDRA), and present the number of subjects, incidence rate, and number of occurrences for each treatment group according to SOC and PT.", "timeFrame": "Up to 48weeks. However, adverse drug reactions that persist at the end of the clinical trial will be followed up until the possible adverse reactions are resolved or it is determined that further follow-up is not meaningful."}, {"measure": "<Phase 2> Laboratory examination", "description": "Number of participants with clinically significant abnormalities in Laboratory parameters after EN001 administration.\n\nHematological tests, Blood chemical tests, Blood coagulation test, Urine test, Serum virus test\n\nIt is conducted through blood and urine collection, and the PI checks whether the test results are normal, abnormal, and clinically significant.", "timeFrame": "Up to 48weeks. At Baseline and Week 4, tests are conducted before and within 4 hours after administration of the investigational drug, and PT INR and aPTT are performed only at the screening visit."}, {"measure": "<Phase 2> Vital sign", "description": "Number of participants with clinically significant abnomalities in vital signs after EN001 administration.\n\nVital Signs include blood pressure (mmHg), pulse (times/minute), respiratory rate (times/minute), and body temperature (\u2103) and will be assessed.\n\nFor changes at each time point within each treatment group, present continuous variables with subject count, mean, standard deviation, median, minimum, and maximum. For categorical variables, provide frequency and percentage.", "timeFrame": "Up to 48weeks."}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":11,"Interventions":[{"type": "DRUG", "name": "EN001", "description": "Phase 1\n\n* Cohort 1: EN001 5.0x10\\^5 cells/kg administered intravenously (IV) 3 times at 6 week intervals.\n* Cohort 2: EN001 2.5x10\\^6 cells/kg administered intravenously (IV) 3 times at 6 week intervals.\n\nPhase 2\n\n* Experimental Group: The recommended phase 2 dose (RP2D) of EN001 is administered intravenously (IV) three times at six-week intervals.\n* Control Group: EN001 placebo is administered intravenously (IV) three times at six-week intervals.", "armGroupLabels": ["Phase 1 - Cohort 1", "Phase 1 - Cohort 2", "Phase 2 - Control Group", "Phase 2 - Experimental Group"], "otherNames": ["EN001(allogenic early-passage mesenchymal stem cells derived from Wharton's jelly (WJ-MSCs) )"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":75,"NCTID":"NCT02994030","Title":"Biomarker for Duchenne Muscular Dystrophy: An International, Multicenter, Observational, Longitudinal Protocol","Organization Study ID":null,"Organization Full Name":"CENTOGENE GmbH Rostock","Organization Class":"INDUSTRY","Brief Title":"Biomarker for Duchenne Muscular Dystrophy","Status Verified Date":"2022-03-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"INCLUSION CRITERIA\n\n* Informed consent is obtained from the parent/ legal guardian\n* The participant is aged between 2 months and 50 years\n* The diagnosis of DMD is genetically confirmed by CENTOGENE\n\nEXCLUSION CRITERIA\n\n* Informed consent is not obtained from the parent/ legal guardian.\n* The participant is younger than 2 months or older than 50 years\n* The diagnosis of DMD is not genetically confirmed by CENTOGENE","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2016-11-22","Study First Submit QC Date":"2016-12-13","Last Update Submit Date":"2022-03-23","Study First Post Date":"2016-12-15","Last Update Post Date":"2022-03-24","Start Date":"2018-08-20","Primary Completion Date":"2022-03-11","Completion Date":"2022-03-11","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"International, multicenter, observational, longitudinal study to identify biomarker/s for Duchenne Muscular Dystropy (DMD) and to explore the clinical robustness, specificity, and long-term variability of these biomarker/s.","Conditions":"Increased Lordosis/Scoliosis;Hyporeflexia;Duchenne Muscular Dystrophy;Red-Green Color Blindness;Lordosis;Scoliosis;Muscular Atrophy;Muscular Weakness","Phases":null,"Enrollment Count":103,"Primary Outcome Measure":[{"measure": "Identification of DMD biomarker/s", "description": "All samples will be analyzed for the identification of biomarker/s via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.", "timeFrame": "36 weeks"}],"Secondary Outcome Measure":[{"measure": "Exploring the clinical robustness, specificity, and long-term variability of DMD biomarker/s", "description": "Samples will be analyzed for the identified biomarker candidates via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control, in order to establish the disease-specific biomarker/s. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.", "timeFrame": "36 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":2,"Maximum Age (Years)":50,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":76,"NCTID":"NCT05661071","Title":"Determination of Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Investigation of Its Effects on Motor Functions","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Neuropsychological Profiles of Children With Duchenne Muscular Dystrophy and Its Effects on Motor Functions","Status Verified Date":"2022-12-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \\& compare to typically developed peers.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Having been diagnosed with DMD by a pediatric neurologist,\n* Being between the ages of 7-16,\n* Not to have any diagnosed chronic disease,\n* Not having lost yet the ability to write and draw as required by neuropsychological assessments,\n* Cooperate with the physiotherapist and be able to comply with their instructions.\n\nExclusion Criteria:\n\n* Inability to cooperate adequately with the physiotherapist who made the evaluations,\n* Have had any injury and/or surgery to the lower/upper extremities in the last 6 months, which may prevent the performance of motor function tests.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2022-12-04","Study First Submit QC Date":"2022-12-18","Last Update Submit Date":"2022-12-18","Study First Post Date":"2022-12-22","Last Update Post Date":"2022-12-22","Start Date":"2022-05-11","Primary Completion Date":"2023-03-01","Completion Date":"2023-03-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This study was planned to determine neuropsychological profiles of children with Duchenne Muscular Dystrophy and investigation of its effects on motor functions \\& compare to typically developed peers.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":74,"Primary Outcome Measure":[{"measure": "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 35, the lowest score is 0.", "timeFrame": "only baseline"}, {"measure": "The Controlled Oral Word Association Test", "description": "This test requires the individual to name as many words as possible that begin with a given letter, i.e. K, A and S. Sixty seconds are allotted for each letter. Individuals cannot use proper names or numbers and cannot use words with different tenses or endings once the root word has been given", "timeFrame": "only baseline"}, {"measure": "The Central Nervous System Vital Signs", "description": "Central Nervous System Vital Signs is a reimbursable assessment procedure that utilizes computerized neuropsychological tests to evaluate the neurocognitive status of patients and covers a range of mental processes from simple motor performance, attention, memory, to executive functions.", "timeFrame": "only baseline"}, {"measure": "Conners' Parent Rating Scale-48 (Parent Report)", "description": "The Conners' Parent Rating Scale-48 contains 48 items wherein the frequency of each item is rated on a 4-point Likert scale ranging from not at all (0)-3 very much (3). The test has adequate psychometric properties and is widely used for clinical and research purposes with the attention deficit/hyperactivity disorder population", "timeFrame": "only baseline"}, {"measure": "Child Behavior Checklist 6-18 ages (Parent Report)", "description": "The Child Behavior Checklist/6-18 assesses both child adaptive behaviors and problem behaviors. There are 112 items that assess problem behaviors and 20 items that assess adaptive behavior. Response format for problem behaviors is from 0 (\"not true\") to 2 (\"very true\"). The problem behavior items load onto two broad-band scales (Internalizing and Externalizing) and eight narrow-band scales (Rule Breaking, Aggressive Behavior, Withdrawn-Depressed, Somatic Complaints, Anxious Depressed, Social Problems, Thought Problems, and Attention Problems). The adaptive behavior items load onto three scales: Activities, Social Competence, and School Competence. A Total Competence and Total Behavior Problems score are also provided.", "timeFrame": "only baseline"}, {"measure": "Strengths and Difficulties Questionnaire (Self-Reported)", "description": "The Strengths and Difficulties Questionnaire is a brief emotional and behavioural screening questionnaire for children and young people. The tool can capture the perspective of children. The 25 items in the test comprise 5 scales of 5 items each. The scales include: emotional symptoms subscale, conduct problems subscale, hyperactivity/inattention subscale, peer relationships problem subscale, prosocial behaviour subscale.", "timeFrame": "only baseline"}, {"measure": "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": "Motor Function Measurement-32 Items", "description": "The Motor Function Measure is a scale designed for the assessment of motor function and progression of weakness in neuromuscular disorders. It is applicable to both ambulant and non-ambulant patients with a wide range of severity. The scale exists in two versions, one with 32 items for patients over 6 years of age (MFM-32), the other with 20 items for children aged from 2 to 6 years (MFM-20). Concerning the development of the scale, factor analysis identified three functional dimensions: D1 = standing position and transfers (13 items; 8 items in the short version), D2 = axial and proximal motor function (12 items; 8 in the short version), and D3 = distal motor function (7 items; 4 in the short version).", "timeFrame": "only baseline"}, {"measure": "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": "Six Minutes Walk Test", "description": "The 6-minutes walk test, which is valid and reliable for DMD patients, will evaluate the walking function and physical capacity of children at the submaximal level. The distance the child walks for 6 minutes in a 25 m corridor will be recorded in meters. A physiotherapist will walk with the children during the test and track the time with a stopwatch. The test is simple and considered an important outcome measure for children with DMD.", "timeFrame": "only baseline"}, {"measure": "10 meters Walk& Run Test", "description": "A 10-meter distance was marked on an unobstructed, flat surface using tape. To limit the impact of acceleration and deceleration on gait speed, start and finish lines were placed 30 centimeter before and after the 10-meter distance. Participants were instructed to begin with toes on the start line and walk or run as fast as possible, without compromising safety, to the finish line.", "timeFrame": "only baseline"}, {"measure": "Gower's(from a supine to a standing position)", "description": "Children lied down on a mat with straight position and asked them to stand up as fast as possible. Time was started when he moved and stopped when he was upright position.", "timeFrame": "only baseline"}, {"measure": "Right& Left Leg Standing Test", "description": "Children had to maintain a one-legged stance for as long as they could with their eyes open, and allowing them to freely-move their arms. Children were verbally encouraged to maintain the one-legged standing position for as long as possible during test.", "timeFrame": "only baseline"}, {"measure": "Ascent/Descent of 4 Steps", "description": "The children were asked to climb up the 4-step ladder with double-sided handrails as fast as possible. The time was started when his feet lifted from the ground and when both feet touched the ground, the time was stopped and recorded in seconds. After climbing the ladder, they were asked to descend as fast as possible, the time was started when the foot was lifted, and the time was stopped when both feet touched the ground and recorded in seconds.", "timeFrame": "only baseline"}],"Secondary Outcome Measure":[{"measure": "Genetic test report", "description": "The effect of the mutation region of dystrophin protein isoforms causing DMD on the neuropsychological profile of children will be investigated by comparing them with typically developed boys and the effect of this on motor function will be examined.", "timeFrame": "only baseline"}],"Healthy Volunteers":true,"Minimum Age (Years)":7,"Maximum Age (Years)":16,"Interventions":[{"type": "OTHER", "name": "Modified Mini Mental Test:", "description": "To assess the cognitive function of children", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "The Controlled Oral Word Association Test", "description": "To assess the cognitive function of children", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "The Central Nervous System Vital Signs", "description": "To assess the cognitive function of children", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "Conners' Parent Rating Scale-48 (Parent Report)", "description": "To assess attention-deficit/hyperactivity disorder", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "Child Behavior Checklist 6-18 ages (Parent Report)", "description": "To assesses both child adaptive behaviors and problem behaviors.", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "Strengths and Difficulties Questionnaire (Self-Reported)", "description": "It is a brief emotional and behavioural screening questionnaire for children and young people.", "armGroupLabels": ["Duchenne Muscular Dystrophy", "Typically Developed Children"]}, {"type": "OTHER", "name": "Brooke Lower Extremity Functional Classification", "description": "To determine the functional status of the lower extremity", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}, {"type": "OTHER", "name": "Motor Function Measurement-32 Items", "description": "To assessment of motor function and progression of weakness in neuromuscular disorders", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}, {"type": "OTHER", "name": "Four Square Step Test", "description": "A test of dynamic balance and coordination that clinically assesses the participant's ability to step over objects forward, sideways, and backwards.", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}, {"type": "OTHER", "name": "Six Minutes Walk Test", "description": "It evaluates the walking function and physical capacity of children at the submaximal level.", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}, {"type": "OTHER", "name": "Timed Performance Test", "description": "10 meters Walk\\& Run Test, Gower's(from a supine to a standing position), Right\\& Left Leg Standing, Ascent/Descent of 4 Steps", "armGroupLabels": ["Duchenne Muscular Dystrophy"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["39180809"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":77,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"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},{"_id":78,"NCTID":"NCT04240314","Title":"Phase I/IIa Systemic Gene Delivery Clinical Trial of scAAV9.U7.ACCA for Exon 2 Duplication-Associated Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Nationwide Children's Hospital","Organization Class":"OTHER","Brief Title":"AAV9 U7snRNA Gene Therapy to Treat Boys With DMD Exon 2 Duplications.","Status Verified Date":"2025-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Age greater than 6 months and less than 14 years\n* Confirmed duplication of exon 2 in the DMD gene using a clinically accepted technique that completely defines the mutation\n* Pre-ambulant (not yet walking) or ambulant (as defined by the ability to walk 10 meters without assistance)\n* Males of any ethnic group will be eligible\n* Ability to cooperate with muscle testing\n* In subjects age 4 and above, stable dose and regimen of corticosteroid therapy (prednisone, deflazacort, or their generic forms) for at least 12 weeks prior to gene transfer.\n\nExclusion Criteria:\n\n* Active viral infection based on clinical observations\n* Symptoms or signs of cardiomyopathy, including:\n\n  1. Dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs\n  2. Echocardiogram with ejection fraction below 40%\n* Serological evidence of HIV infection, or Hepatitis B or C infection\n* Diagnosis of (or ongoing treatment for) an autoimmune disease\n* Persistent leukopenia or leukocytosis (WBC ≤ 3.5 K/µL or ≥ 20.0 K/µL) or an absolute neutrophil count \\< 1.5K/µL\n* Concomitant illness or requirement for chronic drug treatment that in the opinion of the SI creates unnecessary risks for gene transfer\n* AAV9 binding antibody titers ≥ 1:400 as determined by ELISA immunoassay\n* Abnormal laboratory values in the clinically significant range as listed in Table 7, based upon normal values in the Nationwide Children's Hospital Laboratory.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-01-22","Study First Submit QC Date":"2020-01-22","Last Update Submit Date":"2025-08-21","Study First Post Date":"2020-01-27","Last Update Post Date":"2025-09-11","Start Date":"2020-01-15","Primary Completion Date":"2023-11-13","Completion Date":"2025-07-01","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"Open-label, single dose clinical trial of scAAV9.U7.ACCA via peripheral limb vein injection for Duchenne muscular dystrophy boys who have a duplication of exon 2.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":3,"Primary Outcome Measure":[{"measure": "Number of Participants With Unacceptable Toxicity.", "description": "Unacceptable toxicity is defined as the occurrence of two or more unexpected Grade III or higher treatment-related toxicities, as defined by CTCAE 5.0.", "timeFrame": "2 years"}],"Secondary Outcome Measure":[{"measure": "Change in Dystrophin Expression From Baseline Following Treatment With scAAV9.U7.ACCA.", "description": "Expression of dystrophin will be measured by immunofluorescent (IF) staining in muscle biopsies taken before and after gene therapy. This method allows for visualization of the protein and its proper location in the muscle fiber in comparison to normal protein expression.", "timeFrame": "1 year"}, {"measure": "Change in Dystrophin Expression From Baseline Following Treatment With scAAV9.U7.ACCA.", "description": "Expression of dystrophin will be quantified by western blotting in muscle biopsies taken before and after gene therapy. This method allows for quantification of the protein amount in comparison to normal protein expression amounts.", "timeFrame": "1 year"}, {"measure": "Changes in Percent of Exon 2 Skipping/Exclusion in the Dystrophin mRNA Transcript.", "description": "Exon 2 exclusion will be measured using RT-PCR analysis.", "timeFrame": "1 year"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":13,"Interventions":[{"type": "BIOLOGICAL", "name": "scAAV9.U7.ACCA", "description": "A single dose of scAAV9.U7.ACCA will be systemically delivered via a peripheral vein injection.", "armGroupLabels": ["Cohort 1 (Minimal Efficacious Dose)"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["25108525", "26365037", "19206170", "19793655", "22968479"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":79,"NCTID":"NCT02310906","Title":"A 2-Part, Randomized, Double-Blind, Placebo-Controlled, Dose-Titration, Safety, Tolerability, and Pharmacokinetics Study (Part 1) Followed by an Open-Label Efficacy and Safety Evaluation (Part 2) of SRP-4053 in Patients With Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping","Organization Study ID":null,"Organization Full Name":"Sarepta Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"Phase I/II Study of SRP-4053 in DMD Patients","Status Verified Date":"2020-10-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This is a first-in-human, multiple-dose 2-part study to assess the safety, tolerability, efficacy, and pharmacokinetics of SRP-4053 in Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 53 skipping.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosed with DMD, genotypically confirmed.\n* Intact right and left biceps muscles or an alternative upper arm muscle group.\n* Stable pulmonary and cardiac function.\n* Minimum performance on 6MWT, North Star Ambulatory Assessment, and rise (Gowers) test as specified in the study protocol.\n* On a stable dose of corticosteroids for at least 6 months.\n\nExclusion Criteria:\n\n* Previous treatment with the experimental agents BMN-195 (SMT C1100) or PRO053.\n* Current or previous treatment with any other experimental treatments within 12 weeks prior to study entry.\n* Major surgery within the last 3 months.\n* Presence of other clinically significant illness.\n* Major change in physical therapy regime within the last 3 months.\n\nOther inclusion and exclusion criteria may apply.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2014-12-03","Study First Submit QC Date":"2014-12-05","Last Update Submit Date":"2020-10-14","Study First Post Date":"2014-12-08","Last Update Post Date":"2020-10-19","Start Date":"2015-01-13","Primary Completion Date":"2019-03-25","Completion Date":"2019-03-25","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a first-in-human, multiple-dose 2-part study to assess the safety, tolerability, efficacy, and pharmacokinetics of SRP-4053 in Duchenne muscular dystrophy (DMD) patients with deletions amenable to exon 53 skipping.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":39,"Primary Outcome Measure":[{"measure": "Part 1: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Serious TEAEs and TEAEs Leading to Discontinuation", "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. A Serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; Required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. TEAEs were defined as AEs that were reported or worsened on or after the start of study drug dosing through 12 weeks. TEAEs included both Serious TEAEs and non-serious TEAEs.", "timeFrame": "Baseline up to Week 12"}, {"measure": "Part 1: Number of Participants With Potentially Clinically Significant (PCS) Laboratory Abnormalities Reported as TEAEs", "description": "Laboratory parameters included hematology, serum chemistry (SC), urinalysis and coagulation. Number of participants with at least one potentially clinically significant abnormal finding were reported as TEAEs. The Investigator determined whether abnormal assessment results were potentially clinically significant or not. Potentially clinical significance was defined as any variation in assessment results that had medical relevance resulting in an alteration in medical care.", "timeFrame": "Baseline up to Week 12"}, {"measure": "Part 1: 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 12"}, {"measure": "Part 1: Number of Participants With Potentially Clinically Significant Abnormalities in Physical Examinations", "description": "Physical examinations were performed by the Investigator, or qualified study staff. A full physical examination included a review of general appearance, head, eyes, ears, nose and throat, heart, lungs, abdomen, extremities, skin, lymph nodes, musculoskeletal, and neurological systems. Number of participants with potentially clinically significant abnormalities in physical examinations were reported. Potentially clinically significant abnormalities in physical examinations were based on Investigator's discretion.", "timeFrame": "Baseline up to Week 12"}, {"measure": "Part 1: 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 presented here. The Investigator determined whether abnormal assessment results were potentially clinically significant or not.", "timeFrame": "Baseline up to Week 12"}, {"measure": "Part 1: 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. Cardiac function events included cardiomegaly, tachycardia, and dyspnoea. The ECHO was reviewed and interpreted by medically qualified personnel. Number of participants with potentially clinically significant abnormalities in ECHO were reported.", "timeFrame": "Baseline up to Week 12"}, {"measure": "Part 2a: Change From Baseline in the Total Distance Walked During 6-Minute Walk Test (6MWT) at Week 144 in Total Golodirsen Group", "description": "6MWT was performed by standardized procedures for all participants. Participants were asked to walk a set course of 25 meters for 6 minutes (timed), and the distance walked (in meters) was recorded. Change from baseline in 6MWT distance at Week 144 in total golodirsen group was reported.", "timeFrame": "Baseline and Week 144"}, {"measure": "Part 2b: Change From Baseline in the Total Distance Walked During 6-Minute Walk Test (6MWT) at Week 144 in Untreated Group (Non-exon 53 Amenable Participants)", "description": "6MWT was performed by standardized procedures for all participants. Participants were asked to walk a set course of 25 meters for 6 minutes (timed), and the distance walked (in meters) was recorded. Change from baseline in 6MWT distance at Week 144 in untreated group (non-exon 53 amenable participants) was calculated.", "timeFrame": "Baseline and Week 144"}, {"measure": "Part 2a: Change From Baseline in Dystrophin Protein Levels Determined by Western Blot at Week 48 in Total Golodirsen Group", "description": "Change from baseline in dystrophin protein levels (in muscle biopsy samples) was determined by Western blot in total golodirsen group.", "timeFrame": "Baseline, Week 48"}],"Secondary Outcome Measure":[{"measure": "Part 1: Maximum Plasma Concentration (Cmax) of Golodirsen", "description": "Maximum Concentration (Cmax) of golodirsen in plasma was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Time to Reach Maximum Plasma Concentration (Tmax) of Golodirsen", "description": "Time to reach maximum plasma concentration (Tmax) of golodirsen was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Area Under the Concentration-Time Curve From Time Zero Extrapolated to the Infinity (AUCinf) of Golodirsen in Plasma", "description": "Area under the concentration-time curve from time zero extrapolated to the infinity was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Apparent Volume of Distribution at Steady State (Vss) of Golodirsen", "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 golodirsen was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Elimination Half-life (T1/2) of Golodirsen", "description": "T1/2 is the time measured for the plasma concentration of drug to decrease by one half. T1/2 of golodirsen was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Total Clearance (CL) of Golodirsen", "description": "Drug clearance is a quantitative measure of the rate at which a drug substance is removed from the blood.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Mean Residence Time (MRT) of Golodirsen", "description": "MRT= AUMCinf/AUCinf, where AUMCinf is the area under the first moment curve from time 0 extrapolated to infinite time, calculated using the linear/log trapezoidal method. Mean residence time of golodirsen was evaluated.", "timeFrame": "Pre-dose, 5 to 10 minutes, 1, 1.5, 2, 4, 6, 8, 12, 16 and 24 hours post-dose at Weeks 1 (for 4 mg/kg arm), 3 (for 10 mg/kg arm), 5 (for 20 mg/kg arm) and 7 (for 30 mg/kg arm)"}, {"measure": "Part 1: Renal Clearance (CLR) of Golodirsen", "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 1440 min after initiation of dosing on Day 1"}, {"measure": "Part 2a: Percent Change From Baseline in Forced Vital Capacity Predicted (FVC%p) at Week144 in Total Golodirsen Group", "description": "FVC was the total amount of air exhaled during the forced expiratory volume test that was measured during spirometry and the most important measurement of lung function. This test required participant to breath into a tube connected to a machine that measures the amount of air that can be moved in and out of the lungs after taking an inhaled bronchodilator medicine which was used to dilate participant bronchial (breathing) tubes. Percent of predicted FVC = (observed value)/ (predicted value) \\* 100%.", "timeFrame": "Baseline, Week 144"}, {"measure": "Part 2b: Percent Change From Baseline in Forced Vital Capacity Predicted (FVC%p) at Week144 in Untreated Group (Non-exon 53 Amenable Participants)", "description": "FVC was the total amount of air exhaled during the forced expiratory volume test that was measured during spirometry and is the most important measurement of lung function. This test requires participant to breath into a tube connected to a machine that measures the amount of air that can be moved in and out of the lungs after taking an inhaled bronchodilator medicine which was used to dilate participant bronchial (breathing) tubes. Percent of predicted FVC = (observed value)/ (predicted value) \\* 100%.", "timeFrame": "Baseline, Week 144"}, {"measure": "Part 2a: Change From Baseline in Dystrophin Intensity Levels Determined by Immunohistochemistry (IHC) at Week 48 in Total Golodirsen Group", "description": "Change from baseline in dystrophin Intensity levels (in muscle biopsy samples) was determined by Immunohistochemistry in total golodirsen group.", "timeFrame": "Baseline, Week 48"}, {"measure": "Part 2a: Percent Change From Baseline in Exon 53 Skipping Determined by Reverse Transcription Polymerase Chain Reaction (PCR) at Week 48 in Total Golodirsen Group", "description": "Percent change from baseline in Exon 53 skipping (in muscle biopsy samples) was determined by reverse transcription polymerase chain reaction in total golodirsen group.", "timeFrame": "Baseline, Week 48"}, {"measure": "Part 2a: Percent Change From Baseline in Dystrophin Positive Fibers Determined by Immunohistochemistry (IHC) at Week 48 in Total Golodirsen Group", "description": "Percent change from baseline in dystrophin positive fibers (in muscle biopsy samples) were determined by Immunohistochemistry at Week 48 in total golodirsen group.", "timeFrame": "Baseline, Week 48"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":15,"Interventions":[{"type": "DRUG", "name": "Placebo", "description": "SRP-4053 placebo-matching solution for IV infusion.", "armGroupLabels": ["Part 1: Placebo"]}, {"type": "DRUG", "name": "SRP-4053", "description": "SRP-4053 (golodirsen) solution for IV infusion.", "armGroupLabels": ["Part 1: SRP-4053", "Part 2: SRP-4053"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["32139505", "34788571"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":80,"NCTID":"NCT07037862","Title":"A 2-Part, Randomized, Double-Blind, Placebo-Controlled Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping With an Initial Multiple Ascending Dose Part A to Assess the Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ENTR-601-44, Followed by Part B to Evaluate the Safety and Efficacy of ENTR-601-44 (ELEVATE-44)","Organization Study ID":null,"Organization Full Name":"Entrada Therapeutics, Inc.","Organization Class":"INDUSTRY","Brief Title":"A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"RECRUITING","Brief Summary":"This is a study of the investigational medicine ENTR-601-44 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition.\n\nThe researchers want to: Test how safe ENTR-601-44 is, learn about any side effects, and look at the potential positive effects of ENTR-601-44, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-44 and placebo are both called study treatments.\n\nThe study has 2 parts:\n\n* Part A\n\n  * A Double-Blind Period, to evaluate if ENTR-601-44 is safe and to determine the best dose of ENTR-601-44 for Part B.\n  * Following the Double-Blind period, participants will roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated.\n* Part B\n\n  * To further evaluate the effect and safety of ENTR-601-44 at the dose determined in Part A.\n\nParticipants will:\n\n* Receive study treatment in the form of multiple intravenous (IV) infusions (slow injection) into a vein over the course of several weeks in Part A and in Part B\n* Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, and exercise tests. Participants will have a muscle biopsy at the beginning of their participation and after their last dose to allow researchers to compare whether there have been changes in the muscle as a result of the study drug.\n\nParticipants are allowed to continue receiving their standard of care therapy for DMD during the study, as long as their health remains stable.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Principal inclusion criteria\n\n1. Genetic diagnosis of Duchenne muscular dystrophy (DMD) and confirmed pathologic variant in the dystrophin gene amenable to exon 44 skipping as reviewed by a central genetic counselor.\n2. Assigned male at birth with clinical signs compatible with Duchenne muscular dystrophy as determined by the investigator.\n3. Part A: 4-20 years of age, inclusive.\n4. Ambulatory Status Part A: ambulatory with a Performance of the Upper Limb v2.0 (PUL 2.0) Entry as per protocol at Screening\n5. Adequate muscle for obtaining tissue biopsy as assessed by the investigator.\n6. Other protocol-defined criteria apply.\n\nPrincipal exclusion criteria\n\n1. Any significant concomitant medical condition that might interfere with the ability to comply with protocol requirements.\n2. Has an acute illness within 4 weeks prior to the first dose of study drug which may interfere with study measurements or jeopardize participant's safety.\n3. Use of the following medications:\n\n   1. Prior treatment with any exon skipping therapy at any time\n   2. Prior treatment with any gene therapy at any time\n   3. Use of anti-coagulants, anti-thrombotics, or anti-platelet agents\n   4. Use of an immunosuppressants (other than oral corticosteroids for DMD conditions)\n   5. Has taken or is currently taking a histone deacetylase (HDAC) inhibitor, including (but not limited to) givinostat\n4. Laboratory abnormalities.\n5. Daytime ventilator dependence or any use of invasive mechanical ventilation via tracheostomy.\n6. Has an abnormal electrocardiogram (ECG) reading assessed as clinically significant by the investigator, and/or a QT interval with Fridericia correction method (QTcF) \\>450 msec at Screening or prior to the first dose of study drug on Day 1.\n7. Received any experimental or investigational drug, etc. within 3 months prior to first dose or within 5 half-lives (whichever is longer).\n8. Other protocol-defined criteria apply.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2025-05-01","Study First Submit QC Date":"2025-06-17","Last Update Submit Date":"2026-03-06","Study First Post Date":"2025-06-26","Last Update Post Date":"2026-03-09","Start Date":"2025-06-30","Primary Completion Date":"2029-03-28","Completion Date":"2029-03-28","Oversight Has DMC":"true","Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is a study of the investigational medicine ENTR-601-44 in participants who have Duchenne muscular dystrophy (DMD), a rare genetic condition.\n\nThe researchers want to: Test how safe ENTR-601-44 is, learn about any side effects, and look at the potential positive effects of ENTR-601-44, compared to placebo. Placebo looks like the investigational medicine but does not contain any active ingredient. In this summary ENTR-601-44 and placebo are both called study treatments.\n\nThe study has 2 parts:\n\n* Part A\n\n  * A Double-Blind Period, to evaluate if ENTR-601-44 is safe and to determine the best dose of ENTR-601-44 for Part B.\n  * Following the Double-Blind period, participants will roll into an open-label treatment period during which the safety and efficacy of extended dosing will be evaluated.\n* Part B\n\n  * To further evaluate the effect and safety of ENTR-601-44 at the dose determined in Part A.\n\nParticipants will:\n\n* Receive study treatment in the form of multiple intravenous (IV) infusions (slow injection) into a vein over the course of several weeks in Part A and in Part B\n* Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, and exercise tests. Participants will have a muscle biopsy at the beginning of their participation and after their last dose to allow researchers to compare whether there have been changes in the muscle as a result of the study drug.\n\nParticipants are allowed to continue receiving their standard of care therapy for DMD during the study, as long as their health remains stable.","Conditions":"Duchenne Muscular Dystrophy (DMD)","Phases":["PHASE1", "PHASE2"],"Enrollment Count":24,"Primary Outcome Measure":[{"measure": "Number of participants with Treatment Emergent Adverse Events (TEAEs) according to study protocol (Part A and Open Label (OL) Period)", "description": "Safety will be assessed by monitoring adverse events, physical examination, vital signs and clinical laboratory tests.", "timeFrame": "From baseline through End of Study (up to 62 weeks)."}],"Secondary Outcome Measure":[{"measure": "Plasma, muscle, and urine concentration of ENTR-601-44 and its final metabolite (Part A and Open Label (OL) Period)", "timeFrame": "From Baseline through End of Study (up to 62 weeks)."}, {"measure": "Change from baseline to End of Part A in dystrophin by Western blot from muscle biopsy (Part A)", "timeFrame": "Baseline, End of Part A (up to 25 weeks)"}, {"measure": "Change from baseline to End of Part A in dystrophin expression and localization from muscle biopsy (Part A)", "timeFrame": "Baseline, End of Part A (up to 25 weeks)"}, {"measure": "Percent change from baseline to End of Part A in exon 44 skipping measured in muscle biopsy at End of Study (Part A)", "timeFrame": "Baseline, End of Part A (up to 25 weeks)"}, {"measure": "Anti-drug antibody (ADA) and anti-dystrophin antibody in serum (Part A and OL Period)", "timeFrame": "From baseline through End of Study (up to 62 weeks)."}, {"measure": "Change from baseline to End of OL Period in 10-Meter Walk/Run (10MWR) (Part A and OL Period)", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Timed Rise from Floor (Part A and OL Period)", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Timed 4-Stair Climb (4SC) (Part A and OL Period)", "timeFrame": "Baseline, End of Study (up to 62 weeks)."}, {"measure": "Change from baseline to End of OL Period in 95th centile Stride Velocity (SV95C) (Part A and OL Period)", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in North Star Ambulatory Assessment (NSAA) (Part A and OL Period)", "description": "Ordinal scale with 0 as the minimum score and 34 as the maximum score (higher score - better outcome).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}, {"measure": "Change from baseline to End of OL Period in Performance of the Upper Limb v2.0 (PUL 2.0) (Part A and OL Period)", "description": "Ordinal scale with 0 as the minimum score and 42 as the maximum score (higher score - better outcome).", "timeFrame": "Baseline, End of Study (up to 62 weeks)"}],"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":20,"Interventions":[{"type": "DRUG", "name": "ENTR-601-44", "description": "intravenous infusion", "armGroupLabels": ["ENTR-601-44"]}, {"type": "DRUG", "name": "ENTR-601-44 - matching placebo", "description": "intravenous infusion", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":81,"NCTID":"NCT00264888","Title":"A Phase 2 Study of PTC124 as an Oral Treatment for Nonsense-Mutation-Mediated Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"PTC Therapeutics","Organization Class":"INDUSTRY","Brief Title":"Safety and Efficacy Study of PTC124 in Duchenne Muscular Dystrophy","Status Verified Date":"2009-01-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Diagnosis of DMD based on a clinical phenotype presenting by age 5, with increased serum CK and decrease of dystrophin on a muscle biopsy\n* Presence of a nonsense mutation in the dystrophin gene\n* Physical examination or radiographic imaging documenting the presence of EDB or TA muscles in both legs\n* Ability to ambulate, or if non-ambulatory, then not requiring ventilator support\n* Male sex\n* Age ≥ 5 years\n* Willingness to abstain from sexual intercourse or employ a barrier or medical method of contraception during the study drug administration and follow-up periods in subjects known to be sexually active\n* Willingness and ability to comply with scheduled visits, drug administration plan, laboratory tests, study restrictions, and study procedures (including muscle biopsies, myometry, and PK sampling)\n* Ability to provide written informed consent (parental/guardian consent if applicable)/assent (if \\<18 years of age)\n\nExclusion Criteria:\n\n* Prior or ongoing medical condition (e.g., concomitant illness, psychiatric condition, alcoholism, drug abuse), medical history, physical findings, ECG findings, or laboratory abnormality that, in the investigator's opinion, could adversely affect the safety of the subject, makes it unlikely that the course of treatment or follow-up would be completed, or could impair the assessment of study results\n* Clinical symptoms and signs of congestive cardiac failure\n* Positive hepatitis B surface antigen, hepatitis C antibody test, or human immunodeficiency virus (HIV) test\n* Hemoglobin \\<10 g/dL\n* Serum albumin \\<2.5 g/dL\n* Abnormal GGT or total bilirubin (\\>laboratory's upper limit of normal)\n* Abnormal renal function (serum creatinine \\>1.5 times laboratory's upper limit of normal)\n* History of solid organ or hematological transplantation\n* Ongoing immunosuppressive therapy (other than corticosteroids)\n* Exposure to another investigational drug within 28 days prior to start of study treatment\n* Ongoing participation in any other therapeutic clinical trial\n* Ongoing use of thiazolidinedione peroxisome proliferator-activated receptor gamma (PPAR γ) agonists, e.g., rosiglitazone (Avandia® or equivalent) or pioglitazone (Actos® or equivalent)\n* Change in systemic corticosteroid therapy (e.g., initiation of treatment; cessation of treatment; change in dose, schedule, or type of steroid) within 3 months prior to start of study treatment.\n* Treatment with systemic aminoglycoside antibiotics within 4 weeks prior to start of study treatment","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2005-12-09","Study First Submit QC Date":"2005-12-09","Last Update Submit Date":"2009-01-09","Study First Post Date":"2005-12-13","Last Update Post Date":"2009-01-14","Start Date":"2005-12-01","Primary Completion Date":"2007-05-01","Completion Date":"2007-05-01","Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"In some patients with Duchenne muscular dystrophy (DMD), the disease is caused by a nonsense mutation (premature stop codon) in the gene that makes the dystrophin protein. PTC124 has been shown to partially restore dystrophin production in animals with DMD due to a nonsense mutation. The main purpose of this study is to understand whether PTC124 can safely increase functional dystrophin protein in the muscles of patients with DMD due to a nonsense mutation.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":38,"Primary Outcome Measure":[{"measure": "Dystrophin expression as assessed by immunofluorescence evaluation of tissue obtained by biopsy of the extensor digitorum brevis (EDB) muscle of the foot or tibialis anterior (TA) muscle of the leg"}],"Secondary Outcome Measure":[{"measure": "Presence of dystrophin mRNA and dystrophin-related proteins on EDB or TA muscle biopsy, muscle function, compliance with treatment, safety and PTC124 pharmacokinetics"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "PTC124"}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["24349052"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":82,"NCTID":"NCT05753462","Title":"Phase 1/2a, Monocentric, Open Label Study to Evaluate the Safety, PK and PD of SQY51 in Paediatric and Adult Patients With a Genetically Confirmed Diagnosis of Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Sqy Therapeutics","Organization Class":"OTHER","Brief Title":"Phase 1/2a for Safety, PK and PD of SQY51 in Paediatric and Adult Patients Duchenne Muscular Dystrophy","Status Verified Date":"2024-03-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy","Study Type":"INTERVENTIONAL","Eligibility Criteria":"INCLUSION CRITERIA FOR PHASE 1:\n\n* Boys of ≥6 years of age and ≥ 16 kg body weight.\n* Ambulatory or non-ambulatory status,\n* Patients and, if minor, their legal guardians, who are willing and able to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.\n* Diagnosed with Duchenne Muscular Dystrophy (DMD), genotypically confirmed with DMD mutations amenable to exon-51 skipping.\n* Stable hepatic and renal function.\n* Left ventricular ejection fraction (LVEF) at screening ≥40%.\n* If clinically indicated, approved concomitant treatment within standards of care guidelines for DMD, such as antihypertensive, vasodilators, lipid lowering, thyroid replacement, vitamins, mineral substitution, gastric protectors, and nutritional supplements.\n* Non-invasive mechanical ventilation is permissive if \\< 16 h/day.\n* Being affiliated with a French social security.\n* Informed consent form signed by the patient or, if minor, by the legal guardian(s).\n\nINCLUSION CRITERIA FOR PHASE 2a:\n\nPatients must have completed Phase 1 of the study.\n\nEXCLUSION CRITERIA FOR PHASE 1 AND 2a:\n\n* Patient with any serious medical/surgical or psychiatric condition/illness/history that in the opinion of the investigator would jeopardize patient's safety or would interfere with the study assessments/results, including insufficient vaccination against infectious diseases as recommended by national guidelines, medical history of infection with Hepatitis B,C and HIV.\n* Patient with any known allergies to products likely to be used in the study (e.g., antiseptics, anesthetics), known hypersensitivity to any of the ingredients, or excipients of the study drug).\n* Patient who participated in other investigational study within the last three months, including those with investigational drugs that aim at restoring dystrophin expression such as other antisense oligomers.\n* Patient that received gene therapy.\n* Patient with intellectual disability or behavioral problem such that they cannot comply with the study procedure.\n* Patient with advanced cardiomyopathy and LVEF \\< 40%. Patients with dysrhythmias and being treated for dysrhythmias. Patients with non-treated tachycardia.\n* Patient for which orthopedic surgery is planned during the time of the study.\n* Tracheostomized patients and dependent on invasive mechanical ventilation. Non-invasive mechanical ventilation ≥ 16 h/day. Predicted vital forced capacity \\< 20%. Medical history with more than two respiratory decompensations requiring hospitalization during the previous year. No respiratory decompensation in the four months preceding enrolment.\n* Patients on medications that can restore dystrophin expression, tamoxifen and other drugs without indication for DMD or paediatric population.\n* Abnormal laboratory values in the clinically significant range.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-02-06","Study First Submit QC Date":"2023-02-21","Last Update Submit Date":"2024-03-28","Study First Post Date":"2023-03-03","Last Update Post Date":"2024-04-01","Start Date":"2023-04-26","Primary Completion Date":"2025-02-01","Completion Date":"2025-02-01","Oversight Has DMC":"true","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This is a Phase 1/2a, monocentric, open label study to evaluate the safety, pharmacokinetics, and pharmacodynamics of SQY51 in patients with Duchenne muscular dystrophy","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE1", "PHASE2"],"Enrollment Count":12,"Primary Outcome Measure":[{"measure": "Incidence of AEs in all participants", "timeFrame": "From baseline up to week 49"}],"Secondary Outcome Measure":[{"measure": "Pharmacokinetic plasma concentration of SQY51 (\u00b5g/ml)", "timeFrame": "From baseline up to week 49"}, {"measure": "Change from baseline in time to rise from floor, time to complete 1-min, 6-min and 10-min walk in ambulant patients as well as MFM and PUL scores in both ambulant and non-ambulant patients", "timeFrame": "From baseline up to week 49"}, {"measure": "Changes from baseline in skeletal muscle dystrophin expression", "timeFrame": "From baseline up to week 49"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Phase 1, SQY51", "description": "SQY51 is administered by intravenous infusion.", "armGroupLabels": ["Phase 1"]}, {"type": "DRUG", "name": "Phase 2a, SQY51 (cohort 1)", "description": "SQY51 is administered by intravenous infusion at dose 1", "armGroupLabels": ["Phase 2a - Treatment arm (Dose 1)"]}, {"type": "DRUG", "name": "Phase 2a, SQY51 (cohort 2)", "description": "SQY51 is administered by intravenous infusion at dose 2.", "armGroupLabels": ["Phase 2a - Treatment arm (Dose 2)"]}, {"type": "DRUG", "name": "Phase 2a, SQY51 (cohort 3)", "description": "SQY51 is administered by intravenous infusion at dose 3.", "armGroupLabels": ["Phase 2a - Treatment arm (Dose 3)"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["23913485", "28446219", "22451200", "23340516", "23677550", "30282590", "29771317", "25642938", "12022832", "20719742", "29395989", "29395990", "29398641", "28728956", "23907995", "26573217", "29752304", "29278896", "31261494", "28416280", "34893881", "16106528", "31538331", "19941337", "12091180", "15994402", "23219352", "20215981", "26060189", "21149430", "33762424", "25683700", "12920638"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":83,"NCTID":"NCT00296621","Title":"Efficacy Study of Oral Glutamine Supplementation in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Assistance Publique - Hôpitaux de Paris","Organization Class":"OTHER","Brief Title":"Effect of Oral Glutamine on Muscle Mass and Function in Duchenne Muscular Dystrophy","Status Verified Date":"2007-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The purpose of this study is to determine whether long-term oral glutamine supplementation is effective in improving muscle mass and function in children with Duchenne muscular dystrophy (DMD).","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Clinical diagnosis of Duchenne muscular dystrophy\n* Able to walk \\>170 m\n* Absence of hepatic insufficiency\n* Absence of renal insufficiency\n\nExclusion Criteria:\n\n* Dependent upon wheelchair\n* Body weight \\>60kg\n* Liver failure\n* Kidney failure\n* Surgery scheduled during the year following the first visit","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2006-02-23","Study First Submit QC Date":"2006-02-23","Last Update Submit Date":"2007-12-20","Study First Post Date":"2006-02-27","Last Update Post Date":"2007-12-21","Start Date":"2006-02-01","Primary Completion Date":"2008-02-01","Completion Date":"2007-11-01","Oversight Has DMC":"false","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this study is to determine whether long-term oral glutamine supplementation is effective in improving muscle mass and function in children with Duchenne muscular dystrophy (DMD).","Conditions":"Muscular Dystrophy, Duchenne","Phases":["PHASE2"],"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "walking speed at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}],"Secondary Outcome Measure":[{"measure": "work (kcal) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "power (kcal/s) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "2-minute walk test at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "body composition (bioelectrical impedance analysis) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "body composition (BIPHOTONIC absorptiometry) at 4,9 months", "timeFrame": "at 4,9 months"}, {"measure": "muscle mass (24-h urinary creatinine excretion) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "indices of protein degradation (CPK and 3-methyl histidine excretion) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}, {"measure": "biochemical parameters (electrolytes, fasting glucose, transaminases, insulin, IgfI, Igf-BP3) at 0,2,4,5,7,9 months", "timeFrame": "at 0,2,4,5,7,9 months"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "L-Glutamine", "description": "L-Glutamine", "armGroupLabels": ["1"]}, {"type": "DRUG", "name": "placebo", "description": "placebo", "armGroupLabels": ["2"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["16600934", "10634922", "9475288", "8897864", "7485479", "16400051", "19421321"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":84,"NCTID":"NCT06868784","Title":"Investigation of the Relationship Between Executive Functions and Occupational Performance of Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Lokman Hekim University","Organization Class":"OTHER_GOV","Brief Title":"Investigation of the Relationship Between Executive Functions and Occupational Performance of Children With Duchenne Muscular Dystrophy","Status Verified Date":"2026-02-01T00:00:00","Overall Status":"ENROLLING_BY_INVITATION","Brief Summary":"The effects of Duchenne muscular dystrophy and its treatments on executive functions and occupational performance are under-mentioned in the literature. The researches believe that developmental and cognitive research is needed to identify interventions for children with DMD to identify and adapt to both individual and social environments, including self-care, productivity and leisure activities. Therefore, the aim of this study was to examine executive functions and occupational performance in children with DMD and compare them with healthy controls.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Being diagnosed with DMD\n* Volunteering to participate in the study by their parents and reading and signing the informed consent form\n\nExclusion Criteria:\n\n* Having a neuromuscular disease other than DMD and/or another diagnosed neuromuscular disease accompanying DMD\n* The family and/or the child has problems with cooperation in completing the assessments for any reason\n* Difficulty understanding and speaking the Turkish language","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2024-05-10","Study First Submit QC Date":"2025-03-09","Last Update Submit Date":"2026-02-20","Study First Post Date":"2025-03-11","Last Update Post Date":"2026-02-23","Start Date":"2025-03-01","Primary Completion Date":"2025-12-31","Completion Date":"2026-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The effects of Duchenne muscular dystrophy and its treatments on executive functions and occupational performance are under-mentioned in the literature. The researches believe that developmental and cognitive research is needed to identify interventions for children with DMD to identify and adapt to both individual and social environments, including self-care, productivity and leisure activities. Therefore, the aim of this study was to examine executive functions and occupational performance in children with DMD and compare them with healthy controls.","Conditions":"Executive Dysfunction;Occupational Problems;Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":38,"Primary Outcome Measure":[{"measure": "Demographic information form", "timeFrame": "one-time evaluation"}, {"measure": "Brooke upper extremity functional scale", "description": "It will be used to assess the functional level of the upper limbs of children with DMD. The classification consists of six stages and progression from the first to the sixth stage indicates a decrease in the functionality of the upper limb.", "timeFrame": "one-time evaluation"}, {"measure": "Vignos lower extremity functional scale", "description": "It will be used to assess the functional level of the lower limbs of children with DMD. The classification consists of ten stages and progression from the first to the tenth stage indicates a decrease in the functionality of the upper limb.", "timeFrame": "one-time evaluation"}, {"measure": "The Childhood Executive Functioning Inventory", "description": "This 26-item scale consists of 4 subscales: working memory (9 items), planning (6 items), inhibition (6 items) and regulation (5 items). Working memory and planning sub-dimensions constitute the total score of \"working memory\" and inhibition and regulation sub-dimensions constitute the total score of \"inhibition\". As the score obtained from the scale increases, the child's executive functions weaken.", "timeFrame": "one-time evaluation"}, {"measure": "Canadian Occupational Performance Measure", "description": "It will be used to assess children's occupational performance.", "timeFrame": "one-time evaluation"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":6,"Maximum Age (Years)":12,"Interventions":[{"type": "OTHER", "name": "Evaluations", "description": "Evaluations of executive functions and occupational performance", "armGroupLabels": ["Children with Duchenne muscular dystrophy", "Healthy control group of children"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":85,"NCTID":"NCT01633866","Title":"Pediatric Radio Frequency Coil Development on Clinical and Research MR Scanners","Organization Study ID":null,"Organization Full Name":"Children's Hospital Medical Center, Cincinnati","Organization Class":"OTHER","Brief Title":"Pediatric Radio Frequency Coils Generic","Status Verified Date":"2024-12-01T00:00:00","Overall Status":"ACTIVE_NOT_RECRUITING","Brief Summary":"The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nHealthy participants:\n\n* Male or Female\n* Thermally stable\n* Any age\n\nClinical patients:\n\n* Male or Female\n* Thermally stable\n* any age\n\nExclusion Criteria:\n\nHealthy participants \\& Clinical patients\n\n* Female participants who are pregnant or lactating\n* Subjects iwth standard contraindications to MRI","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2012-06-21","Study First Submit QC Date":"2012-07-02","Last Update Submit Date":"2024-12-11","Study First Post Date":"2012-07-04","Last Update Post Date":"2024-12-16","Start Date":"2012-07-01","Primary Completion Date":"2025-06-01","Completion Date":"2025-06-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The purpose of this study is to evaluate and optimize advances in radio frequency (RF) coil magnetic resonance imaging (MRI) technology at Cincinnati Children's Hospital Medical Center (CCHMC).","Conditions":"Duchenne Muscular Dystrophy;Musculoskeletal Abnormalities","Phases":null,"Enrollment Count":75,"Primary Outcome Measure":[{"measure": "Number of participants with adverse events as measured by heating and comfort participant response", "timeFrame": "Day 1"}],"Secondary Outcome Measure":[{"measure": "MRI Image Quality", "timeFrame": "2 Weeks Post MRI Scan"}],"Healthy Volunteers":true,"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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":86,"NCTID":"NCT01070511","Title":"Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Cedars-Sinai Medical Center","Organization Class":"OTHER","Brief Title":"Tadalafil in Becker Muscular Dystrophy","Status Verified Date":"2013-08-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Summary for Patients: This study, funded by the Muscular Dystrophy Association, is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil (also known as Cialis) in mice with an animal version of Duchenne and Becker muscular dystrophies. Only two doses of tadalafil improved muscle blood flow, allowing the dystrophic mice to perform more exercise with less muscle injury. This new short-term clinical trial will move the testing from animals to human patients with Becker muscular dystrophy and examine the effects of acute tadalafil dosing on muscle blood flow during a bout of exercise. Patients will take two doses of tadalafil prior to exercising. Then doctors will measure whether muscles receive increased blood flow and therefore are better protected during exercise.\n\nScientific Hypothesis: In patients with Becker muscular dystrophy (particularly those with dystrophin gene mutations between exons 41-46), loss of sarcolemmal nitric oxide synthase engenders functional muscle ischemia and thus muscle edema after an acute bout of exercise. The investigators further hypothesize that PDE5A inhibition, which boosts nitric oxide-cGMP signaling, constitutes an effective new countermeasure for these patients.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Becker Muscular Dystrophy Patients\n\n* Men 18-55 years of age with a pre-existing diagnosis of Becker Muscular Dystrophy by a clinical neurologist (based on clinical criteria plus previous muscle biopsy analysis and/or DNA analysis).\n\nHealthy Controls\n\n* Men 18-55 years of age with no known medical conditions\n\nCriteria for exclusion of subjects (both patients and controls)\n\n* Any evidence of cardiopulmonary disease by history or by physical examination\n* History of hypertension or blood pressure averaging ≥140/90 mmHg\n* Diabetes mellitus or other systemic illness\n* Heart failure by clinical exam, elevated BNP, or heart failure medication\n* Serum creatinine ≥ 1.5 mg/dL\n* Any history of substance abuse (including alcohol)\n* Any history of psychiatric illness\n* Contraindications to tadalafil (use of nitrates, alpha-blockers, other PDE5A inhibitors, or potent inhibitors of CYP3A4 such as ketoconazole or ritonavir)\n* Contraindications to MRI (claustrophobia, metal implants, or seizure disorder)","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2010-02-17","Study First Submit QC Date":"2010-02-17","Last Update Submit Date":"2013-08-19","Study First Post Date":"2010-02-18","Last Update Post Date":"2013-08-20","Start Date":"2010-01-01","Primary Completion Date":"2012-12-01","Completion Date":"2012-12-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"Summary for Patients: This study, funded by the Muscular Dystrophy Association, is intended to build on recent findings published in the journal Nature showing beneficial effects of tadalafil (also known as Cialis) in mice with an animal version of Duchenne and Becker muscular dystrophies. Only two doses of tadalafil improved muscle blood flow, allowing the dystrophic mice to perform more exercise with less muscle injury. This new short-term clinical trial will move the testing from animals to human patients with Becker muscular dystrophy and examine the effects of acute tadalafil dosing on muscle blood flow during a bout of exercise. Patients will take two doses of tadalafil prior to exercising. Then doctors will measure whether muscles receive increased blood flow and therefore are better protected during exercise.\n\nScientific Hypothesis: In patients with Becker muscular dystrophy (particularly those with dystrophin gene mutations between exons 41-46), loss of sarcolemmal nitric oxide synthase engenders functional muscle ischemia and thus muscle edema after an acute bout of exercise. The investigators further hypothesize that PDE5A inhibition, which boosts nitric oxide-cGMP signaling, constitutes an effective new countermeasure for these patients.","Conditions":"Becker Muscular Dystrophy","Phases":["PHASE4"],"Enrollment Count":48,"Primary Outcome Measure":[{"measure": "Reflex decrease in muscle tissue oxygenation (i.e., adrenergic vasoconstriction) during rhythmic handgrip exercise measured by Near Infrared Spectroscopy (NIR).", "timeFrame": "measured at a minimum of 2 week intervals for a minimum of 6 weeks total (for subjects with BMD)"}],"Secondary Outcome Measure":[{"measure": "Change in forearm muscle water content by magnetic resonance imaging (MRI).", "timeFrame": "measured at a minimum of 2 week intervals for a minimum of 6 weeks total (for subjects with BMD)"}],"Healthy Volunteers":true,"Minimum Age (Years)":18,"Maximum Age (Years)":55,"Interventions":[{"type": "DRUG", "name": "Tadalafil", "description": "Tadalafil will be administered orally on two consecutive days. The first dose-10 mg- will be administered the afternoon before the study. The second dose -20 mg-will be administered the morning of the study.", "armGroupLabels": ["Tadalafil"], "otherNames": ["Cialis"]}, {"type": "DRUG", "name": "Placebo", "description": "A placebo pill will be administered orally on two consecutive days. The first pill will be administered the afternoon before the study. The second pill will be administered the morning of the study.", "armGroupLabels": ["Placebo"]}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["41671094"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":87,"NCTID":"NCT04668716","Title":"Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5 and WP6) Part 2: a Neurobehavioural and MRI Study","Organization Study ID":null,"Organization Full Name":"Great Ormond Street Hospital for Children NHS Foundation Trust","Organization Class":"OTHER","Brief Title":"Brain Involvement in Dystrophinopathies Part 2","Status Verified Date":"2024-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nFor DMD patients:\n\n* Male\n* age 5-17 years\n* genetically-proven diagnosis of DMD\n* genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3)\n\nFor BMD patients:\n\n* age 5-50 years\n* genetically-proven diagnosis of BMD\n* genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3).\n\nFor MRI controls:\n\n* Male\n* age 5-50 years\n\nExclusion Criteria:\n\nFor DMD and BMD patients:\n\n* Lack of a molecular diagnosis of DMD or BMD\n* Mutation falls outside the regions of interest\n* A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant\n\nFor MRI controls:\n\n* any muscle disease\n* a brain disorder (such as severe brain concussion in past history, congenital brain anomalies, epilepsy)\n\nGeneral exclusion criteria for MRI:\n\n* Claustrophobia\n* Pacemakers and defibrillators\n* Nerve stimulators\n* Intracranial clips\n* Intraorbital or intraocular metallic fragments\n* Cochlear implants\n* Ferromagnetic implants (e.g. thoracic implant for scoliosis)\n* Inability to lie supine during less than 45 minutes\n* not having a general practitioner\n* severe learning disability which will require a general anaesthetic","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-12-09","Study First Submit QC Date":"2020-12-09","Last Update Submit Date":"2024-07-19","Study First Post Date":"2020-12-16","Last Update Post Date":"2024-07-22","Start Date":"2021-10-11","Primary Completion Date":"2024-06-30","Completion Date":"2024-06-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The objective of this study is to understand the relationship between DMD and BMD brain comorbidities, and the location of the gene mutation which causes the disease.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":null,"Enrollment Count":339,"Primary Outcome Measure":[{"measure": "CNS Comorbidity Phenotyping", "description": "Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients", "timeFrame": "170 minutes"}],"Secondary Outcome Measure":null,"Healthy Volunteers":true,"Minimum Age (Years)":5,"Maximum Age (Years)":50,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":["http://bindproject.eu/"],"On Roche Website":false,"Roche Website URL":null},{"_id":88,"NCTID":"NCT03490214","Title":"Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy as Diagnostic and Progression Marker Using Multispectral Optoacoustic Tomography","Organization Study ID":null,"Organization Full Name":"University of Erlangen-Nürnberg Medical School","Organization Class":"OTHER","Brief Title":"Non-invasive Imaging of Muscle Structure in Duchenne Muscular Dystrophy Using Multispectral Optoacoustic Tomography","Status Verified Date":"2019-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"DMD-Patients\n\nInclusion Criteria:\n\n* Histologic or genetically proven DMD\n* Age 3-10 years\n\nExclusion Criteria:\n\n\\-\n\nHealthy controls\n\nInclusion Criteria:\n\n* Male\n* Age 3-10 years\n\nExclusion Criteria:\n\n* Suspected muscular disease/myopathia\n* missing informed consent","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2018-03-19","Study First Submit QC Date":"2018-03-29","Last Update Submit Date":"2019-12-05","Study First Post Date":"2018-04-06","Last Update Post Date":"2019-12-09","Start Date":"2018-06-01","Primary Completion Date":"2018-08-01","Completion Date":"2018-09-01","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This pilot study aims to assess subcellular muscle structure in patients with Duchenne X-linked progressive Duchenne muscular dystrophy (DMD) in comparison to healthy volunteers using multispectral optoacoustic tomography (MSOT). During MSOT, a transducer is placed on the skin similar to a conventional sonography and instead of sound, energy is supplied to the tissue by means of light flashes. This leads to a constant change of minimal expansions and contractions (thermoelastic expansion) of individual tissue constituents or molecules. The resulting sound waves can then be detected by the same examination unit.","Conditions":"Duchenne Muscular Dystrophy;Muscular Dystrophies;Muscular Dystrophy, Duchenne","Phases":["NA"],"Enrollment Count":20,"Primary Outcome Measure":[{"measure": "Muscular lipid content", "description": "Quantitative lipid signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)", "timeFrame": "Single time point (1 day)"}, {"measure": "Muscular collagen content", "description": "Quantitative collagen signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)", "timeFrame": "Single time point (1 day)"}],"Secondary Outcome Measure":[{"measure": "Muscular myo-/hemoglobin content", "description": "Quantitative myo-/hemoglobin signal derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD compared to healthy control Units: arbitrary units (a.u.)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of lipid signal with age/disease duration", "description": "Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of myo-/hemoglobin signal with age/disease duration", "description": "Quantitative moo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with individual disease duration/age (in month)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of lipid signal with 6MWT", "description": "Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of lipid signal with MRC", "description": "Quantitative lipid signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of collagen signal with 6MWT", "description": "Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of collagen signal with MRC", "description": "Quantitative collagen signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of myo-/hemoglobin signal with 6MWT", "description": "Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with 6-minute walk test (6MWT, distance in meters, less distance means higher disease severity)", "timeFrame": "Single time point (1 day)"}, {"measure": "Correlation of myo-/hemoglobin signal with MRC", "description": "Quantitative myo-/hemoglobin signal (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD correlated with Medical Research Council (MRC, scale: 0-5, lower score means less muscular strength, measured for each individual muscles) muscle scale", "timeFrame": "Single time point (1 day)"}, {"measure": "Signal differences left and right muscles", "description": "Comparison of quantitative signal levels (Units: arbitrary units (a.u.)) derived by transcutaneous Multispectral Optoacoustic Tomography (MSOT) in patients with DMD/healthy controls in right and left body muscular groups (upper and lower body)", "timeFrame": "Single time point (1 day)"}],"Healthy Volunteers":true,"Minimum Age (Years)":3,"Maximum Age (Years)":10,"Interventions":[{"type": "DEVICE", "name": "Multispectral Optoacoustic Tomography", "description": "Non-invasive transcutaneous imaging of subcellular muscle components", "armGroupLabels": ["Healthy Volunteer", "Muscular Dystrophia"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["31792454"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":89,"NCTID":"NCT00758225","Title":"A Phase II Open-label Extension Study to Obtain Long-term Safety, Tolerability and Efficacy Data of Idebenone in the Treatment of Duchenne Muscular Dystrophy - Extension to Study SNT-II-001","Organization Study ID":null,"Organization Full Name":"Santhera Pharmaceuticals","Organization Class":"INDUSTRY","Brief Title":"Long-term Safety, Tolerability and Efficacy of Idebenone in Duchenne Muscular Dystrophy (DELPHI Extension)","Status Verified Date":"2011-05-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The scientific aim of the present extension study is to monitor long-term safety and tolerability of idebenone in patients with DMD. Furthermore, the long-term effect on respiratory, cardiac and motor functions, and skeletal muscle strength/function will be assessed.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Completion of study SNT-II-001\n* Body weight ≥ 25 kg\n* Glucocorticosteroids and ACE-inhibitors are allowed, if on stable dosage within 2 months prior to inclusion\n* Eligibility to participate in the present extension study as confirmed by the investigator\n\nExclusion Criteria:\n\n* Safety or tolerability issues arising during the course of SNT-II-001 which in the opinion of the investigator preclude further treatment with idebenone\n* Clinically significant abnormalities of haematology or biochemistry\n* Abuse of drugs or alcohol\n* Use of coenzyme Q10 or idebenone within 30 days prior to inclusion\n* Intake of any investigational drug within 30 days prior to inclusion\n* Symptomatic heart failure\n* Previous history of ventricular arrhythmias (other than isolated ventricular extrasystole); ventricular arrhythmias presented at baseline\n* Known individual hypersensitivity to idebenone or to any of the excipients","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2008-09-23","Study First Submit QC Date":"2008-09-23","Last Update Submit Date":"2011-05-30","Study First Post Date":"2008-09-25","Last Update Post Date":"2011-06-01","Start Date":"2008-09-01","Primary Completion Date":"2011-01-01","Completion Date":"2011-01-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The scientific aim of the present extension study is to monitor long-term safety and tolerability of idebenone in patients with DMD. Furthermore, the long-term effect on respiratory, cardiac and motor functions, and skeletal muscle strength/function will be assessed.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE2"],"Enrollment Count":21,"Primary Outcome Measure":[{"measure": "Measures of safety and tolerability of idebenone: - Nature and frequency of AEs - Laboratory parameters (haematology, biochemistry and urinalysis) - Physical examinations and vital signs - ECGs", "timeFrame": "Month 0, 3, 6, 12, 18, 24, FU"}],"Secondary Outcome Measure":[{"measure": "Measures of efficacy of idebenone: - Respiratory Function Testing - Motor Function Measure - Quantitative Muscle Testing - Hand-Held Myometry - Echocardiography and Color Doppler Myocardial Imaging - Cardiac biomarkers", "timeFrame": "Month 0, 6, 12, 18, 24"}],"Healthy Volunteers":false,"Minimum Age (Years)":null,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Idebenone", "description": "Patients \u2264 45 kg: 450 mg/day (1 tablet 3 times a day) Patients \\> 45 kg: 900 mg/day (2 tablets 3 times a day)", "armGroupLabels": ["only one arm"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":90,"NCTID":"NCT04583917","Title":"Brain INvolvement in Dystrophinopathies (BIND): Deep Functional Phenotyping of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy Patients (WP5) Part 1: a Multicentre Online Phenotyping and Neurobehavioural Data Collection Study","Organization Study ID":null,"Organization Full Name":"Great Ormond Street Hospital for Children NHS Foundation Trust","Organization Class":"OTHER","Brief Title":"Brain Involvement in Dystrophinopathies Part 1","Status Verified Date":"2024-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\nFor DMD patients:\n\n* Male\n* age 5-17 years\n* genetically-proven diagnosis of DMD\n* genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-); or all isoforms (assigned to DMD group 3)\n\nFor BMD patients:\n\n* age 5-50 years\n* genetically-proven diagnosis of BMD\n* genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2), or of all the isoforms (assigned to BMD group 3).\n\nExclusion Criteria:\n\n* Lack of a molecular diagnosis of DMD or BMD\n* Mutation falls outside the regions of interest\n* A severe co-morbidity or planned surgical intervention within 6 months from the study which could interfere with the well-being of the participant","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-10-05","Study First Submit QC Date":"2020-10-05","Last Update Submit Date":"2024-07-19","Study First Post Date":"2020-10-12","Last Update Post Date":"2024-07-22","Start Date":"2021-03-30","Primary Completion Date":"2024-06-30","Completion Date":"2024-06-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The objective of this study is to collect data from a large cohort of individuals with DMD and BMD focusing on the neurobehavioural aspects of these conditions and their correlation to the location of the DMD gene mutation.","Conditions":"Duchenne Muscular Dystrophy;Becker Muscular Dystrophy","Phases":null,"Enrollment Count":377,"Primary Outcome Measure":[{"measure": "CNS Comorbidity Pheotyping", "description": "Correlate CNS comorbidity phenotypes with genotype in DMD and BMD patients", "timeFrame": "90 minutes"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":50,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":["https://bindproject.eu/"],"On Roche Website":false,"Roche Website URL":null},{"_id":91,"NCTID":"NCT02354352","Title":"Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Ohio State University","Organization Class":"OTHER","Brief Title":"Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy","Status Verified Date":"2019-09-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The study is to demonstrate non-inferiority of spironolactone vs. eplerenone in preserving cardiac and pulmonary function in patients with preserved LV ejection fraction. Males with Duchenne muscular dystrophy (DMD) confirmed clinically and by mutation analysis will be enrolled. Subjects will be randomized to either eplerenone or spironolactone. Subjects will use a drug diary to record daily compliance of taking the study medication as well as any concerns they may have during the study period. Subjects will undergo cardiac magnetic resonance imaging (CMR) and pulmonary function tests (PFT) at baseline and then again at 12 months post enrollment. Subjects will also complete a quality of life questionnaire at baseline and 12 months. Degree of elbow contracture will be measured using a goniometer at baseline and 12 months.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Boys age ≥7 years with DMD confirmed clinically and by mutation analysis able to undergo cardiac magnetic resonance (CMR) without sedation\n* LV EF ≥45% (+/-5%) by clinically-acquired echocardiography, nuclear scan or cardiac MRI done within 2 weeks of enrollment\n\nExclusion Criteria:\n\n* Non-MR compatible implants\n* Severe claustrophobia\n* Gadolinium contrast allergy\n* Kidney disease\n* Prior use of or allergy to aldosterone antagonist\n* Use of other investigational therapy.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2015-01-27","Study First Submit QC Date":"2015-02-02","Last Update Submit Date":"2019-09-23","Study First Post Date":"2015-02-03","Last Update Post Date":"2019-10-07","Start Date":"2015-03-20","Primary Completion Date":"2018-05-01","Completion Date":"2018-05-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"The study is to demonstrate non-inferiority of spironolactone vs. eplerenone in preserving cardiac and pulmonary function in patients with preserved LV ejection fraction. Males with Duchenne muscular dystrophy (DMD) confirmed clinically and by mutation analysis will be enrolled. Subjects will be randomized to either eplerenone or spironolactone. Subjects will use a drug diary to record daily compliance of taking the study medication as well as any concerns they may have during the study period. Subjects will undergo cardiac magnetic resonance imaging (CMR) and pulmonary function tests (PFT) at baseline and then again at 12 months post enrollment. Subjects will also complete a quality of life questionnaire at baseline and 12 months. Degree of elbow contracture will be measured using a goniometer at baseline and 12 months.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":52,"Primary Outcome Measure":[{"measure": "Left Ventricular Strain", "description": "a sensitive measure of heart muscle function", "timeFrame": "12 months"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Eplerenone", "description": "26 Subjects will take Eplerenone, one 50mg capsule by mouth once daily for 12 months.", "armGroupLabels": ["Eplerenone"], "otherNames": ["Inspra"]}, {"type": "DRUG", "name": "Spironolactone", "description": "26 Subjects will take Spironolactone, one 50mg capsule by mouth once daily for 12 months.", "armGroupLabels": ["Spironolactone"], "otherNames": ["Aldactone"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["31549577"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":92,"NCTID":"NCT01772043","Title":null,"Organization Study ID":null,"Organization Full Name":"Cooperative International Neuromuscular Research Group","Organization Class":"NETWORK","Brief Title":"Duchenne Muscular Dystrophy Tissue Bank for Exon Skipping","Status Verified Date":"2015-07-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Age 4 and above\n* Diagnosis of DMD with a confirmed out-of-frame dystrophin gene deletions that could be corrected by skipping exon 45, 51, or 53 based on past genetic testing.\n\nExclusion Criteria:\n\n* Investigator assessment of inability to comply with blood and skin sample collection","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2013-01-17","Study First Submit QC Date":"2013-01-18","Last Update Submit Date":"2015-07-27","Study First Post Date":"2013-01-21","Last Update Post Date":"2015-07-28","Start Date":"2012-09-01","Primary Completion Date":"2016-08-01","Completion Date":"2016-08-01","Oversight Has DMC":"true","Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"We will utilize the Cooperative International Neuromuscular Research Group (CINRG) network to collect and store tissue and blood from patients with Duchenne muscular dystrophy (DMD) with specific genetic mutations within the dystrophin gene that could be treated by antisense oligonucleotide (AO) drugs.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":53,"Primary Outcome Measure":[{"measure": "Tissue Collection", "description": "Collection of blood, skin and optional muscle samples", "timeFrame": "1 day"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":null,"Interventions":null,"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":93,"NCTID":"NCT00004646","Title":null,"Organization Study ID":null,"Organization Full Name":"Office of Rare Diseases (ORD)","Organization Class":"NIH","Brief Title":"Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy","Status Verified Date":"2001-12-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"OBJECTIVES: I. Characterize the effect of prednisone on muscle protein metabolism in patients with Duchenne muscular dystrophy.\n\nII. Determine whether prednisone changes levels of insulin-like growth factor 1, growth hormone, and insulin.\n\nIII. Characterize the effect of prednisone on muscle morphometry and muscle localization of utrophin.\n\nIV. Compare the prednisone response in patients with Duchenne muscular dystrophy to that seen in normal individuals and in patients with facioscapulohumeral dystrophy.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"PROTOCOL ENTRY CRITERIA:\n\n* Ambulatory males with Duchenne muscular dystrophy\n* No medical/psychiatric contraindication to protocol therapy\n* No requirement for regular use of prescription medication","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2000-02-24","Study First Submit QC Date":"2000-02-24","Last Update Submit Date":"2005-06-23","Study First Post Date":"2000-02-25","Last Update Post Date":"2005-06-24","Start Date":"1995-04-01","Primary Completion Date":null,"Completion Date":null,"Oversight Has DMC":null,"Is FDA Regulated Drug":null,"Is FDA Regulated Device":null,"Detailed Description":"OBJECTIVES: I. Characterize the effect of prednisone on muscle protein metabolism in patients with Duchenne muscular dystrophy.\n\nII. Determine whether prednisone changes levels of insulin-like growth factor 1, growth hormone, and insulin.\n\nIII. Characterize the effect of prednisone on muscle morphometry and muscle localization of utrophin.\n\nIV. Compare the prednisone response in patients with Duchenne muscular dystrophy to that seen in normal individuals and in patients with facioscapulohumeral dystrophy.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE3"],"Enrollment Count":20,"Primary Outcome Measure":null,"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":15,"Interventions":[{"type": "DRUG", "name": "prednisone"}],"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":94,"NCTID":"NCT03589573","Title":"Effect of Trunk and Lower Extremity Muscle Strength on Hamstring Flexibility in Children With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Hacettepe University","Organization Class":"OTHER","Brief Title":"Effect of Muscle Strength on Hamstring Flexibility in Children With Duchenne Muscular Dystrophy","Status Verified Date":"2018-07-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"Investigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Getting a Duchenne Muscular Dystrophy diagnosis,\n* Being in ambulatuar phases and independently climbing four stairs\n* To be cooperate to physioterapist's directions\n\nExclusion Criteria:\n\n* Having severe contracture in the lower extremity\n* Having undergone surgery in the past 6 months","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2018-07-05","Study First Submit QC Date":"2018-07-05","Last Update Submit Date":"2018-07-27","Study First Post Date":"2018-07-18","Last Update Post Date":"2018-07-31","Start Date":"2017-03-24","Primary Completion Date":"2017-09-25","Completion Date":"2018-01-01","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Investigator researched that the effect of trunk and lower extremity muscle strength on hamstring flexibility in children with Duchenne Muscular Dystrophy.","Conditions":"Duchenne Muscular Dystrophy;Muscle Strength;Lower Extremity;Hamstring Contractures","Phases":null,"Enrollment Count":30,"Primary Outcome Measure":[{"measure": "popliteal angle test", "description": "The popliteal angle test was performed to assess hamstring flexibility. The popliteal angle was measured in a supine position and the hip flexed 90\u00b0, and fixed by first physical therapist. Opposite knee and hip were placed in extension position. Then, the child was asked to rise lower leg straight. The incomplete angle for full extension of the knee was the popliteal angle.", "timeFrame": "5 minute"}],"Secondary Outcome Measure":[{"measure": "trunk and lower extremity muscle strength test", "description": "Trunk and lower extremity muscle strength was assessed manual muscle strength and myometer. Any test was performed three times and best value was recorded.", "timeFrame": "20 minute"}],"Healthy Volunteers":false,"Minimum Age (Years)":5,"Maximum Age (Years)":18,"Interventions":null,"Mentions Ambulant Participation":true,"Mentions Non Ambulant Participation":false,"MentionsCorticosteroidUse":false,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":95,"NCTID":"NCT04708314","Title":"An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"Rare Disease Research, LLC","Organization Class":"OTHER","Brief Title":"An Open-Label Study of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy","Status Verified Date":"2026-03-01T00:00:00","Overall Status":"TERMINATED","Brief Summary":"This is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen).\n\nGolodirsen 30 mg/kg will be administered as an intravenous (IV) infusion over approximately 35 to 60 minutes once a week during the treatment period (up to 96 weeks). After the treatment period, patients can go into a safety extension period (not to exceed 48 weeks) until the patient is able to transition to commercially available drug or a separate golodirsen study.\n\nSafety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory assessments, including pulmonary function tests (PFTs), upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Be a male with DMD with a mutation that may be amenable to exon 53 skipping as documented by a genetic report from an accredited laboratory confirming mutation endpoints by multiplex ligation-dependent probe amplification.\n2. Be 7 years of age or older.\n3. Has been on a stable dose of oral corticosteroids for at least 24 weeks prior to study drug administration and the dose is expected to remain constant (except for modifications to accommodate changes in weight) throughout the study or has not received corticosteroids for at least 24 weeks prior to study drug administration and does not expect to start corticosteroids throughout the study.\n4. Be unable to ambulate (\"non-ambulatory\"). By definition, loss of ambulation means patient or caregiver reported continuous wheelchair use that has been verified by a clinical evaluator. The following conditions should be met:\n\n   1. Condition is not secondary to acute worsening of mobility due to orthopedic morbidity (eg, fracture, sprain, or injury) or surgical procedure.\n   2. Unable to perform 10-meter walk run test.\n5. Has stable pulmonary function that, in the opinion of the Investigator, is unlikely to decompensate over the study period.\n6. Patients who are post-pubertal and sexually active must agree to use, for the entire duration of the study and for 90 days post last dose, a male condom and the female sexual partner must also use a medically acceptable form of birth control (eg, oral contraceptives).\n7. Able to understand and comply with all study requirements, in the Investigator's opinion, or if under the age of 18 years, must have a parent(s) or legal guardian(s) who is able to understand.\n8. Willing to provide informed consent to participate in the study, or if under the age of 18 years, be willing to provide informed assent, if applicable, and have a parent(s) or legal guardian(s) who is willing to provide informed consent for the patient to participate in the study.\n\nExclusion Criteria:\n\n1. Use of any pharmacologic treatment (other than corticosteroids) within 12 weeks of study drug administration that in the opinion of the Investigator might have an effect on skeletal muscle strength or function (eg, growth hormone, anabolic steroids).\n2. Previous treatment with any investigational drug or exon skipping therapy within the last 3 months.\n3. Major change in physiotherapy regimen within the past 3 months or expected change over the study period.\n4. Major surgery within 3 months of study drug administration or planned major surgery for any time during this study.\n5. Presence of other clinically significant illness that cannot be attributed to classic Duchenne disease course including significant cardiac, pulmonary, hepatic, renal, hematologic, immunologic, behavioral disease, or malignancy.\n6. Systemic use of any aminoglycoside antibiotic within 12 weeks of study drug administration or anticipated need for use of an aminoglycoside antibiotic or statin during the study.\n7. Must not require antiarrhythmic and/or antidiuretic therapy for heart failure. Patients are allowed to take other medication including angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blocking agents, β blockers or potassium, provided they have been on a stable dose for 24 weeks prior to study drug administration and the dose is expected to remain constant throughout the study.\n8. If the patient is asymptomatic but has a LVEF \\< 40% at Screening or clinically significant at the discretion of Investigator, the Investigator should discuss inclusion of patient in the study with the appropriate institutional safety committee or medical monitor.\n9. Prior or ongoing medical condition that could, in the Investigator's opinion, adversely affect the safety of the patient, make it unlikely that the course of treatment would be completed, or impair the assessment of study results.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-09-21","Study First Submit QC Date":"2021-01-12","Last Update Submit Date":"2026-03-30","Study First Post Date":"2021-01-13","Last Update Post Date":"2026-04-03","Start Date":"2020-10-31","Primary Completion Date":"2021-05-13","Completion Date":"2021-05-13","Oversight Has DMC":null,"Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This is an open-label study to evaluate the safety and tolerability of golodirsen injection in Non-ambulant DMD patients with confirmed genetic mutations amenable to treatment by exon 53 skipping (Golodirsen).\n\nGolodirsen 30 mg/kg will be administered as an intravenous (IV) infusion over approximately 35 to 60 minutes once a week during the treatment period (up to 96 weeks). After the treatment period, patients can go into a safety extension period (not to exceed 48 weeks) until the patient is able to transition to commercially available drug or a separate golodirsen study.\n\nSafety will be regularly assessed throughout the study via the collection of adverse events (AEs), laboratory tests, electrocardiograms (ECGs), echocardiograms (ECHOs), vital signs, and physical examinations. Exploratory assessments, including pulmonary function tests (PFTs), upper extremity testing, and other measurements of functional status, will occur at functional assessment visits every 12 weeks over the first year of treatment and approximately every 24 weeks over the second year of treatment.","Conditions":"Duchenne Muscular Dystrophy","Phases":["PHASE4"],"Enrollment Count":2,"Primary Outcome Measure":[{"measure": "Explore the safety and tolerability of Golodirsen in number of participants with Treatment Emergent Adverse Events (TEAEs) and Serious TEAEs", "description": "Adverse Event (AE) was any untoward medical occurrence in a participant that did not necessarily have a causal relationship with the study drug. Serious adverse event (SAE) was an AE resulting in any of the following outcomes: death; Life-threatening event; required or prolonged inpatient hospitalization; persistent or significant disability/incapacity; congenital anomaly. Treatment emergent adverse events were events that developed or worsened during the on-treatment period (defined as time from first dose of study drug and up to 28 days after last dose of study drug \\[up to 148 weeks\\]) that were absent before treatment or that worsened relative to pre-treatment state. AEs included both serious and non-serious adverse events.", "timeFrame": "Baseline up to 96 weeks"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":7,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]", "description": "Vyondys 53", "armGroupLabels": ["30 mg/kg"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":true,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":96,"NCTID":"NCT05833633","Title":"Study of Genotype and Phenotype Characterization and Biomarkers Profile in Duchenne Muscular Dystrophy With Small Mutations","Organization Study ID":null,"Organization Full Name":"Fondazione Policlinico Universitario Agostino Gemelli IRCCS","Organization Class":"OTHER","Brief Title":"Study of Genotype and Phenotype Characterization in Duchenne Muscular Dystrophy With Small Mutations","Status Verified Date":"2023-05-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n\\- DMD diagnosis confirming a small mutation genotype.\n\nExclusion Criteria:\n\n* DMD patient enrolled in other clinical trials using genetic approach\n* impossibility to perform MRI without sedation\n* presence of severe cognitive or behavioral problems","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-03-06","Study First Submit QC Date":"2023-04-17","Last Update Submit Date":"2023-05-10","Study First Post Date":"2023-04-27","Last Update Post Date":"2023-05-15","Start Date":"2022-03-18","Primary Completion Date":"2023-04-17","Completion Date":"2024-06-30","Oversight Has DMC":null,"Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"Improved standards of care and the regular early use of glucocorticoid treatment have changed the natural history of Duchenne muscular dystrophy (DMD), affecting both survival and time of loss of functional milestones. More recently, there has been increasing evidence of an additional benefit from new therapeutic approaches based on mechanisms targeting specific types of mutation, as Atarulen, authorised in the European Union as Translarna since 31 July 2014 to treat DMD boys with non sense mutations. As there is increasing evidence that specific groups of mutations may have different progression of the disease, it has become mandatory to obtain more detailed long-term information about the patterns of progression related to different genotypes. Natural history of DMD boys carrying deletions has been more studied and less is known about boys carrying small mutations that represent 20% of DMD patients. The aim of this project is to better define the natural history of these patients and to better understand the clinical response to mutation-specific therapies aimed at restoring dystrophin protein production.","Conditions":"Muscular Dystrophy, Duchenne","Phases":null,"Enrollment Count":25,"Primary Outcome Measure":[{"measure": "Longitudinal Motor changes in 15 DMD boys with different types of small mutations (Group 1)", "description": "To found in a cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in motor functional assessments including the six minute walking test and the Performance of the Upper Limb.", "timeFrame": "1 year"}, {"measure": "Longitudinal respiratory changes in 15 DMD boys with different types of small mutations (Group 1)", "description": "To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in respiratory data using the Peak Expiratory Flow percentage predicted.\n\n,", "timeFrame": "1 year"}, {"measure": "Longitudinal Muscle MRI changes in 15 DMD boys with different types of small mutations (Group 1)", "description": "To found in the same cohort of 15 patients with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in muscle MRI scores", "timeFrame": "1 year"}, {"measure": "Longitudinal genetic changes in 15 DMD boys with different types of small mutations (Group 1)", "description": "To found in the same cohort of 15 patients (prospective cohort) with different types of small mutations at baseline (T0) and 1 year later (T1) some differences in genetic test (urinary stem cells for MiRNA study).\n\nGenomic DNA exploring the 5 SNPs associated to the LOA will be collected at T0 only", "timeFrame": "1 year"}],"Secondary Outcome Measure":null,"Healthy Volunteers":false,"Minimum Age (Years)":4,"Maximum Age (Years)":30,"Interventions":[{"type": "DIAGNOSTIC_TEST", "name": "MUSCLE MAGNETIC RESONANCE IMAGING (MRI)", "description": "To assess longitudinally at baseline and 1 year later changes on muscle MRI, genetic test, functional motor and respiratory assessments in the DMD group with different type of small mutations and the DMD group with non sense mutations treated with Atarulen in order to better define natural history of these patients. .", "armGroupLabels": ["Group of DMD patients with different type of small mutations (Group 1)", "Group of DMD patients with non sense mutations in treatment with Traslarna (Group 2)"], "otherNames": ["Genetic exams", "Functional motor and respiratory assessments"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":97,"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":"2026-04-03T00:00:00","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":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":98,"NCTID":"NCT06013839","Title":"A Phase 2, Single-Arm, Open-Label, Multi-Center Study to Evaluate the Safety and Efficacy of TXA127/Angiotensin [1-7] in Non-Ambulant Patients With Duchenne Muscular Dystrophy (DMD) Cardiomyopathy Who Are Receiving Systemic Glucocorticoids","Organization Study ID":null,"Organization Full Name":"Constant Therapeutics LLC","Organization Class":"INDUSTRY","Brief Title":"TXA127 in Non-Ambulant Patients With DMD Cardiomyopathy","Status Verified Date":"2023-09-01T00:00:00","Overall Status":"UNKNOWN","Brief Summary":"This open-label, single-arm multi-center study studying the safety and efficacy of TXA127 on non-ambulant patients with DMD Cardiomyopathy will comprise of two phases:\n\n1. 6-month open-label treatment phase: Male DMD patients with documented cardiomyopathy, will receive a daily subcutaneous injection of TXA127 0.5 mg/kg. Treatment will be provided for 6 months. Treatment safety will be assessed by collection and review of AEs, vital signs, ECGs, physical examinations, PFTs, and laboratory parameters on Day 1, Month 1, and Month 6. Ejection Fraction, upper extremity strength and biomarker levels will be assessed at these study visits as well. In addition, an abbreviated safety visit will be conducted at Month 3.\n2. 12-month optional extension phase: Patients will continue the same study drug regime for an additional 12 months. The primary objective of this phase is to obtain long-term safety data. Efficacy data will also be collected. Safety, efficacy, and exploratory biomarkers will be assessed at Month 12 and Month 18, using the same methods as in the treatment phase. In addition, abbreviated safety visits will be conducted at Month 9 and Month 15.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n1. Male subjects 16 years of age or older who provide informed consent and can follow up with protocol procedures. Parental or guardian consent is required for subjects at least 16 years of age but younger than 18 years of age.\n2. Documented diagnosis of Duchenne muscular dystrophy by genetic mutation analysis.\n3. Documented cardiomyopathy, as assessed by echocardiogram with:\n\n   1. For a patient ≤ 20 years of age, EF \\> 35% and \\< 55% and fractional shortening of ≤ 28% at the time of screening.\n   2. For a patient \\> 20 years of age, EF \\> 20% and fractional shortening ≤ 28% at the time of screening.\n4. Reproducible (+/- 10%) difference between screening and baseline of percent predicted FVC , using the best out of 3 efforts at each visit:\n\n   1. For a patient ≤ 20 years of age, FVC between 45% and 85%, inclusive. Patient should not utilize non-invasive ventilation such as CPAP or BiPAP.\n   2. For a patient \\>20 years of age, all of the following should exist: FVC \\> 20%, EF \\> 20% in baseline ECHO and ability to be off non-invasive ventilation, such as CPAP and BiPAP, for at least 4 consecutive hours a day (24 hours period).\n5. Subjects must be taking systemic glucocorticoids for at least six months prior to screening.\n6. Subjects taking mineralocorticoid receptor antagonists, must be taking the drug for at least three months prior to screening\n7. Non-ambulant and cared for by a trained caregiver\n\nExclusion Criteria:\n\n1. Therapy with intravenous inotropic or vasoactive medications at the time of screening\n2. Planned or likelihood of major surgery in the 6 months after planned enrollment.\n3. Patient is using a left ventricular assist device (LVAD) or actively in the process of acquiring a LVAD.\n4. Estimated glomerular filtration rate (GFR) \\<50 mL/min, as calculated by the CKD-EPI Creatinine equation 2021 (https://www.kidney.org/professionals/kdoqi/gfr\\_calculator)\n5. Patient is suffering from unstable systemic allergic reaction(s), connective tissue disease or autoimmune disorder(s), requiring active intervention\n6. History of cardiac tumor or current cardiac tumor\n7. Known moderate-to-severe aortic stenosis/insufficiency or severe mitral stenosis/regurgitation\n8. Current alcohol or drug abuse\n9. Known history of chronic viral hepatitis unless considered cured based on hepatitis C RNA negative results\n10. Hepatic dysfunction upon screening evidenced by bilirubin levels or gamma-GT levels above normal, deemed as clinically significant by the PI/Sub-I, and/or abnormal hematology (hematocrit \\<25%, WBC \\<3000/μl, platelets \\<100,000/μl), without a reversible, identifiable cause. Total bilirubin elevations \\> 2 times the upper reference range, consistent with Gilbert's Syndrome, may be enrolled if there is no other evidence of liver dysfunction\n11. Uncontrolled diabetes (HbA1c \\>9.0 percent)\n12. Inability to comply with protocol-related procedures, including required study visits\n13. Any condition or other reason that, in the opinion of the investigator or Medical Monitor, would render the subject unsuitable for the study\n14. Currently receiving or received within 90 days of enrollment (Day 1) an investigational treatment on another clinical study or expanded access protocol. This will include patients currently being treated or who have not completed follow-up to treatment with an investigational cell-based therapy within 6 months prior to enrollment and patients actively receiving an investigational therapy for cardiovascular repair/regeneration.","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2023-08-16","Study First Submit QC Date":"2023-08-22","Last Update Submit Date":"2024-01-22","Study First Post Date":"2023-08-28","Last Update Post Date":"2024-01-23","Start Date":"2023-08-31","Primary Completion Date":"2024-08-01","Completion Date":"2024-12-01","Oversight Has DMC":null,"Is FDA Regulated Drug":true,"Is FDA Regulated Device":false,"Detailed Description":"This open-label, single-arm multi-center study studying the safety and efficacy of TXA127 on non-ambulant patients with DMD Cardiomyopathy will comprise of two phases:\n\n1. 6-month open-label treatment phase: Male DMD patients with documented cardiomyopathy, will receive a daily subcutaneous injection of TXA127 0.5 mg/kg. Treatment will be provided for 6 months. Treatment safety will be assessed by collection and review of AEs, vital signs, ECGs, physical examinations, PFTs, and laboratory parameters on Day 1, Month 1, and Month 6. Ejection Fraction, upper extremity strength and biomarker levels will be assessed at these study visits as well. In addition, an abbreviated safety visit will be conducted at Month 3.\n2. 12-month optional extension phase: Patients will continue the same study drug regime for an additional 12 months. The primary objective of this phase is to obtain long-term safety data. Efficacy data will also be collected. Safety, efficacy, and exploratory biomarkers will be assessed at Month 12 and Month 18, using the same methods as in the treatment phase. In addition, abbreviated safety visits will be conducted at Month 9 and Month 15.","Conditions":"DMD-Associated Dilated Cardiomyopathy","Phases":["PHASE2"],"Enrollment Count":10,"Primary Outcome Measure":[{"measure": "To evaluate the safety of TXA127 in patients with DMD", "description": "Incidence of adverse events (AEs), their severity and relationship to treatment", "timeFrame": "6 months plus 12 month extension"}, {"measure": "To evaluate the effects of treatment on ejection fraction (EF)", "description": "Percent change in EF, as measured by echocardiogram (ECHO); Absolute change in EF, as measured by echocardiogram", "timeFrame": "6 months plus 12 month extension"}],"Secondary Outcome Measure":[{"measure": "To evaluate the effects of treatment on upper extremity muscle function", "description": "Percent change in upper extremity strength, as measured by grip strength with a dynamometer; Absolute change in upper extremity strength, as measured by grip strength with a dynamometer", "timeFrame": "6 months plus 12 month extension"}, {"measure": "To evaluate the effects of treatment on fractional shortening (FS)", "description": "Percent and absolute change in fractional shortening as measured by echocardiogram", "timeFrame": "6 months plus 12 month extension"}],"Healthy Volunteers":false,"Minimum Age (Years)":16,"Maximum Age (Years)":null,"Interventions":[{"type": "DRUG", "name": "talfirastide", "description": "TXA127 (talfirastide) is a pharmaceutically formulated angiotensin (1-7) heptapeptide, identical to the endogenously produced, non-hypertensive derivative of angiotensin II (Ang II).", "armGroupLabels": ["TXA127 SC 0.5mg/kg/day"], "otherNames": ["TXA127", "Angiotensin-(1-7)"]}],"Mentions Ambulant Participation":false,"Mentions Non Ambulant Participation":true,"MentionsCorticosteroidUse":true,"MentionsLackOfCorticosteroidUse":false,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":99,"NCTID":"NCT04529707","Title":"Sleep Health Dysfunction and the Use of a Transdiagnostic Sleep Intervention in Duchenne Muscular Dystrophy","Organization Study ID":null,"Organization Full Name":"University of Pittsburgh","Organization Class":"OTHER","Brief Title":"Sleep Intervention in Young Boys with Duchenne Muscular Dystrophy","Status Verified Date":"2025-02-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"This project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY). As an early stage study, investigators will focus on recruitment strategies to reach the target population and collection of preliminary data on primary and secondary effects of the TranS-CY. Weekly remote (video web conferencing) parent training sessions will allow investigators to explore adoption through parent adherence and examine whether the essential elements of the TranS-CY intervention (e.g., motivational interviewing, goal setting, problem solving, sleep routine scheduling, monitoring) can be consistently taught by clinicians and implemented by parents into the home setting.","Study Type":"INTERVENTIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Parents/caregivers of youth between ages 6 and 17 with a primary diagnosis of Duchenne muscular dystrophy (DMD) who lives at home .\n* Access to a smart-phone or computer and internet for the weekly web-based sessions, as well as uploading of the Actigraph data;\n* English speaking.\n\nExclusion Criteria:\n\n* Unable to speak or read English\n* Their child with DMD has cognitive or behavioral concerns that would limit participation and follow-through of intervention;\n* Their child/youth with DMD is currently receiving an intervention for a sleep related disorder","Sex":"ALL","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2020-08-17","Study First Submit QC Date":"2020-08-24","Last Update Submit Date":"2025-03-04","Study First Post Date":"2020-08-28","Last Update Post Date":"2025-03-07","Start Date":"2021-02-17","Primary Completion Date":"2024-10-31","Completion Date":"2024-12-31","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"This project will systematically plan and evaluate the implementation of the Transdiagnostic Sleep and Circadian Intervention for youth (TranS-CY). As an early stage study, investigators will focus on recruitment strategies to reach the target population and collection of preliminary data on primary and secondary effects of the TranS-CY. Weekly remote (video web conferencing) parent training sessions will allow investigators to explore adoption through parent adherence and examine whether the essential elements of the TranS-CY intervention (e.g., motivational interviewing, goal setting, problem solving, sleep routine scheduling, monitoring) can be consistently taught by clinicians and implemented by parents into the home setting.","Conditions":"Duchenne Muscular Dystrophy","Phases":["NA"],"Enrollment Count":38,"Primary Outcome Measure":[{"measure": "Parent Mastery Questionnaire", "description": "100% of parents who are retained throughout the study will attain \u226580% knowledge accuracy at each knowledge check time point and will accurately answer 8 of the 10 questions provided.", "timeFrame": "A 10-item questionnaire focused on intervention modules will be delivered every 2-3 weeks during the 10 week intervention. Parents will be required to answer questions that address their knowledge of the information provided in each module."}],"Secondary Outcome Measure":[{"measure": "Child intradaily variability from Actigraphy", "description": "Vector magnitude scores from Actigraphy for each 2-week data collection period (pre and post intervention) are analyzed through nParAct software. Analyses provide us with our secondary outcome of intradaily variability. Intradaily variability is the frequency and extent of transitions between periods of rest and activity on an hourly basis over 24 hours. Relative amplitude is how active a child is during a 24 hour period.", "timeFrame": "2 weeks pre-intervention and 2 weeks post-intervention"}, {"measure": "Child relative amplitude from Actigraph", "description": "Vector magnitude scores from Actigraphy for each 2-week data collection period (pre and post intervention) are analyzed through nParAct software. Analyses provide us with our secondary outcome of relative amplitude. Relative amplitude is how active a child is during a 24 hour period.", "timeFrame": "2 weeks pre-intervention and 2 weeks post-intervention."}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":[{"type": "BEHAVIORAL", "name": "Transdiagnostic Behavioral Sleep Intervention", "description": "The Transdiagnostic Sleep and Circadian Intervention for Youth (TranS-CY) uses a comprehensive sleep health framework along with robust evidence for promoting healthy sleep patterns in youth. The TranS-CY incorporates best practices from numerous efficacious behavioral sleep interventions including 1) cognitive behavioral therapy, 2) interpersonal and social rhythm therapy, and 3) behavioral treatment of circadian rhythm sleep-wake disorders. The \"traditional\" TranS-CY is clinician-led and provides a robust sleep treatment framework for youth with a wide range of disorders and sleep health concerns. For this study, investigators are using the basic framework of the TranS-CY, but clinicians will train parents to incorporate the intervention into the home for their young child with DMD. Trained clinicians will work with parents to ensure the basic components of the TranS-CY are incorporated into the home-based intervention.", "armGroupLabels": ["Sleep Intervention"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":null,"See Also Links":null,"On Roche Website":false,"Roche Website URL":null},{"_id":100,"NCTID":"NCT03947112","Title":"Physical Activity Level of Norwegian Boys with Duchenne Muscular Dystrophy - a Cross Sectional Study","Organization Study ID":null,"Organization Full Name":"Haukeland University Hospital","Organization Class":"OTHER","Brief Title":"Physical Activity Level of Norwegian Boys with Duchenne Muscular Dystrophy","Status Verified Date":"2021-11-01T00:00:00","Overall Status":"COMPLETED","Brief Summary":"The aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy boys. A co-project will validate ActiGraph accelerometry to measure physical activity in boys with DMD.","Study Type":"OBSERVATIONAL","Eligibility Criteria":"Inclusion Criteria:\n\n* Boys with conclusive diagnosis of Duchenne Muscular disease, attending Norwegian pediatric rehabilitation clinics.\n* Signed written consent\n* Able to answer questionnaires with help from parents, care giver(s) or health care professional with regular follow up of the participants.\n\nExclusion Criteria:\n\n* Lack of consent.\n* Language difficulties\n* Cognitive dysfunction or mental retardation leading to difficulties in answering the questionnaires adequately","Sex":"MALE","Version Holder":"2026-04-03T00:00:00","Study First Submit Date":"2019-05-09","Study First Submit QC Date":"2019-05-09","Last Update Submit Date":"2025-03-03","Study First Post Date":"2019-05-13","Last Update Post Date":"2025-03-05","Start Date":"2020-08-20","Primary Completion Date":"2021-06-30","Completion Date":"2021-06-30","Oversight Has DMC":"false","Is FDA Regulated Drug":false,"Is FDA Regulated Device":false,"Detailed Description":"The aim of this population based study is to examine, quantify and describe physical activity level in Norwegian boys with DMD, and to compare the level of physical activity level between boys with DMD and age matched healthy boys. A co-project will validate ActiGraph accelerometry to measure physical activity in boys with DMD.","Conditions":"Duchenne Muscular Dystrophy","Phases":null,"Enrollment Count":28,"Primary Outcome Measure":[{"measure": "Physical activity registration", "description": "An Actigraph will be provided and worn at pre set time frame (Seven days including weekend). Data extracted are counts per minutes, and are measurements of movement performed in both vertical and horizontal axis. The counts will be used to quantify the time the participant is inactive, low, moderate and / or in vigorous physical active.", "timeFrame": "Seven days"}],"Secondary Outcome Measure":[{"measure": "Leisure time physical activity", "description": "The UngKan-3 questionnaire is a self-reported/parent-reported instrument, developed to measure leisure time physical activity, diet, media habits and sleep routine. The questionnaire is former used in a national cross-sectional survey amongst Norwegian school students, developed by the Norwegian School of Sport Sciences and Norwegian Institute of Public Health.", "timeFrame": "Day 1"}, {"measure": "Self-Reported Questionnaire", "description": "Self-administrated questionnaire developed to describe participants function, on-going treatment, movement aid, types of physical activities", "timeFrame": "Day 1"}],"Healthy Volunteers":false,"Minimum Age (Years)":6,"Maximum Age (Years)":18,"Interventions":[{"type": "BEHAVIORAL", "name": "Physical activity registration", "description": "At start, participants and parents fills out a Self-report questionnaire and the UngKan-3 Questionnaire, before a seven day physical activity registration takes place by use og ActiGraph. A physical activity diary are filled out every evening while the physical activity registration takes places.", "armGroupLabels": ["Norwegian population with Duchenne Muscular Dystrophy (DMD)"], "otherNames": ["Self-report Questionnaire", "Physical activity diary", "UngKan-3 Questionnaire"]}],"Mentions Ambulant Participation":null,"Mentions Non Ambulant Participation":null,"MentionsCorticosteroidUse":null,"MentionsLackOfCorticosteroidUse":null,"Mentioned Exons":null,"Exons Eligible":null,"Exons Non Eligible":null,"Exons to be skipped":null,"PubMed IDs":["28112012", "29395989"],"See Also Links":null,"On Roche Website":false,"Roche Website URL":null}], "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"}}], "_links": {"start": "/api/3/action/datastore_search?resource_id=cb90b5c5-106b-41cc-9ecd-4867424079ad", "next": "/api/3/action/datastore_search?resource_id=cb90b5c5-106b-41cc-9ecd-4867424079ad&offset=100"}, "total": 492, "total_was_estimated": false}}