[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"becker-muscular-dystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:becker-muscular-dystrophy":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,11,0,[8,48,77,105,126,157,186,208,232,260,287],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":20,"studyType":21,"phases":4,"briefSummary":22,"conditions":23,"keywords":28,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":36,"lastUpdatePostDateStruct":37,"startDateStruct":40,"completionDateStruct":42,"leadSponsor":44,"locationsCount":47},"100644920","modeling-mortality-in-duchenne-muscular-dystrophy-cardiomyopathy-identification-of-surrogate-outcome-measures-for-dmd-drug-trials-100644920",false,"NCT07674758","Modeling Mortality in Duchenne Muscular Dystrophy Cardiomyopathy: Identification of Surrogate Outcome Measures for DMD Drug Trials","Evaluating Cardiac Function in Patients With Duchenne Muscular Dystrophy","Inclusion Criteria:\n\n* Clinical phenotype of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or muscular dystrophy carrier (MDC) confirmed with muscle biopsy or genotype\n\nExclusion Criteria:\n\n* Additional genetic or congenital abnormality that may affect cardiovascular function or progression\n* Current investigational therapy that may affect cardiovascular function (would preclude ongoing data collection but prior data would still be used)","ALL",{"count":18,"type":19},1000,"ESTIMATED","5 Years","OBSERVATIONAL","Dystrophin associated heart dysfunction is a leading cause of death in patients with Duchenne and Becker Muscular dystrophy (DMD\u002FBMD) and Duchenne and Becker muscular dystrophy carriers (MDC); however, the evolution of heart dysfunction is not well-understood. The central objectives of this proposal are to elucidate this evolution of heart dysfunction and identify measures from cardiac MRI images that can predict death or significant heart disease in patients with DMD\u002FBMD\u002FMDC. This study will create a large clinical and cardiac MRI registry of dystrophin associated heart dysfunction, will utilize advanced image analysis techniques, including deep learning neural networks, to comprehensively evaluate every patient, and will create a risk toolkit accessible to clinicians around the world; this proposal has the potential to improve the quality of life in patients with dystrophin associated heart dysfunction by allowing for earlier and more intensive therapy in patients with severe disease and by identifying surrogate outcome measures for use in therapeutic trials.",[24,25,26,27],"Duchenne Muscular Dystrophy (DMD)","Cardiomyopathy","Becker Muscular Dystrophy","Carrier of Duchenne Muscular Dystrophy",[29,30,31,32,33,34],"Duchenne Muscular Dystrophy","cardiomyopathy","machine learning","cardiac MRI","Biomarker","Outcome measures","RECRUITING","2026-06-24",{"date":38,"type":39},"2026-06-30","ACTUAL",{"date":41,"type":39},"2025-01-06",{"date":43,"type":19},"2029-02-01",{"name":45,"class":46},"Vanderbilt University Medical Center","OTHER",9,{"id":49,"slug":50,"hasResults":11,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":54,"eligibilityCriteria":55,"healthyVolunteers":56,"sex":57,"minAge":20,"maxAge":58,"enrollmentInfo":59,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":61,"conditions":62,"keywords":64,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":76},"100622048","multiparametric-ultrafast-ultrasound-biomarkers-for-duchenne-and-becker-muscular-dystrophies-100622048","NCT07378553","Multiparametric Ultrafast Ultrasound Biomarkers for Duchenne and Becker Muscular Dystrophies","Multiparametric Ultrafast Ultrasound Evaluation of Skeletal Muscle in Duchenne and Becker Muscular Dystrophies","INNOVAN","Inclusion Criteria:\n\n* Inclusion Criteria for patients with Duchenne Muscular Dystrophy: Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with Duchenne Muscular Dystrophy based on absence of dystrophin expression.\n* Inclusion Criteria for patients with Becker Muscular Dystrophy: Ambulatory and non-ambulatory males (ages 5-60 at baseline testing) previously diagnosed with Becker Muscular Dystrophy based on genetically confirmed, reduced or dysfunctional dystrophin.\n* Inclusion Criteria for Aged-matched controls: Ambulatory males (ages 5-60 years) without disease or injury to the lower and\u002For upper extremities\n\nExclusion Criteria:\n\n* Exclusion Criteria for patients with Duchenne and Becker Muscular Dystrophies:\n\nInability to undergo static exam, missing measurement site (resection\u002Famputation), neurocognitive impairment preventing informed consent\n\n* Exclusion Criteria for Age-matched controls: Any condition affecting muscle metabolism\u002Ffunction, neuromuscular disease, or injury to the lower and\u002For upper extremities in the past 5 years",true,"MALE","60 Years",{"count":60,"type":19},60,"The purpose of this research study is to determine the potential of a multiparametric ultrasound approach to non-invasively monitor disease progression and to serve as an objective outcome measure for future clinical trials in Duchenne and Becker Muscular Dystrophies.\n\nThe investigators will compare the muscles of ambulatory or non-ambulatory boys\u002Fmen with Duchenne and Becker Dystrophies with muscles of healthy age-matched individuals of the same age and monitor disease progression in those with muscular dystrophies over a 12-month year period.\n\nThe ultrafast ultrasound technology used in this study allows the simultaneous assessment of muscle structure, mechanics and physiology, including stiffness, anisotropy, viscosity, intramuscular fat, muscle volume, and microvascular perfusion. The amount of muscle alteration measured will be related to performance in daily activities, such as walking and muscle strength, in order to identify sensitive and objective markers of disease progression.",[63,26],"Duchene Muscular Dystrophy",[29,26,65,66,67],"Ultrasound Imaging","Ultrafast Ultrasound","Muscle","2026-06-23",{"date":36,"type":39},{"date":71,"type":39},"2026-03-03",{"date":73,"type":19},"2029-03-03",{"name":75,"class":46},"Nantes University Hospital",1,{"id":78,"slug":79,"hasResults":11,"nctId":80,"briefTitle":81,"officialTitle":82,"acronym":4,"eligibilityCriteria":83,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":84,"targetDuration":86,"studyType":21,"phases":4,"briefSummary":87,"conditions":88,"keywords":91,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":100,"leadSponsor":102,"locationsCount":104},"100640890","duchenne-electronic-health-record-study-100640890","NCT07609394","Duchenne Electronic Health Record Study","Duchenne Outcomes Research Interchange Data Enrichment Through EHR Extraction","Inclusion Criteria:\n\n* Duchenne or Becker muscular dystrophy or female carrier\n* Must be a patient at an institution that has an established EHR integration set up with PPMD's Interchange\n* Must provide consent to have their EHR data pushed to the Interchange and linked to existing Registry data, if applicable\n\nExclusion Criteria:\n\n* Individuals with other forms of muscular dystrophy\n* Individuals who do not provide consent\n\nIndividuals with Duchenne\u002FBecker who have severe mobility\u002Fstrength issues need to provide consent and participate with assistance from a caregiver. Adults with communication impairments and\u002For intellectual disabilities (considered the \"decisionally impaired\" group for purposes of this study) will be able to consent with the assistance of the adults who are designated Legally Authorized Representative (LAR). Without assistance, this group will be excluded from participation because the consent process.",{"count":85,"type":19},2500,"20 Years","This study aims to collect retrospective and prospective, long-term data of patients with dystrophinopathy (including Duchenne, Becker, and female carriers) through electronic transfer. At select clinics across the United States, electronic health record (EHR) data from consented patients will be pushed into PPMD's Duchenne Outcomes Research Interchange (the Interchange), where the EHR data can be combined with patient-reported data from The Duchenne Registry. By combining this data in a central hub, we will gain a more complete picture of Duchenne and Becker muscular dystrophy, allowing researchers and clinicians to develop treatments faster and to improve and refine the standards of care for Duchenne and Becker. The ultimate goal is to optimize function, quality of life, and survival of Duchenne and Becker patients.\n\nEHR data collected will be fully identifiable retrospective data for core clinical data elements going back ten years (as available) from the date of consent; going back one year for retrospective clinical notes from the date of consent; and prospectively collecting both core clinical data elements and clinical notes. Information collected will align with the FHIR U.S. core data elements, also known as the Common Clinical Data Set.\n\nPPMD partnered with Prometheus Research (an IQVIA company), an industry leader in health data informatics, to launch both the EHR Study and the Interchange. All data is stored securely and in accordance with strict industry standards and patient privacy laws. Participation in the EHR data extraction is voluntary, and a patient can withdraw consent at any time.",[24,26,89,90],"Dystrophinopathy","Dystrophinopathy Symptomatic Female Carrier",[92,93,89,94],"Duchenne","Becker","Muscular Dystrophy","2026-05-21",{"date":97,"type":39},"2026-05-27",{"date":99,"type":39},"2022-12-01",{"date":101,"type":19},"2072-12",{"name":103,"class":46},"The Duchenne Registry",10,{"id":106,"slug":107,"hasResults":11,"nctId":108,"briefTitle":103,"officialTitle":109,"acronym":4,"eligibilityCriteria":110,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":111,"targetDuration":113,"studyType":21,"phases":4,"briefSummary":114,"conditions":115,"keywords":117,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":118,"lastUpdatePostDateStruct":119,"startDateStruct":121,"completionDateStruct":123,"leadSponsor":125,"locationsCount":76},"100214523","the-duchenne-registry-100214523","NCT02069756","The Duchenne Registry: An International, Patient-Report Registry for Individuals With Duchenne and Becker Muscular Dystrophy (Member of TREAT-NMD Neuromuscular Network)","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).",{"count":112,"type":19},10000,"40 Years","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.",[29,26,89,90,116],"Dystrophinopathy Female Carrier",[92,93,94],"2026-05-05",{"date":120,"type":39},"2026-05-08",{"date":122,"type":39},"2007-10",{"date":124,"type":19},"2047-10",{"name":103,"class":46},{"id":127,"slug":128,"hasResults":11,"nctId":129,"briefTitle":130,"officialTitle":131,"acronym":4,"eligibilityCriteria":132,"healthyVolunteers":11,"sex":57,"minAge":133,"maxAge":134,"enrollmentInfo":135,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":137,"conditions":138,"keywords":139,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":148,"lastUpdatePostDateStruct":149,"startDateStruct":151,"completionDateStruct":153,"leadSponsor":155,"locationsCount":76},"100632557","dmd-gene-variants-and-cardiac-dysfunction-in-young-males-with-dystrophinopathies-100632557","NCT07515235","DMD Gene Variants and Cardiac Dysfunction in Young Males With Dystrophinopathies","Correlation of Pathogenic Variants in the DMD Gene With Cardiac Dysfunction in Male Children, Adolescents, and Young Adults With Dystrophinopathies: A Pilot Study","Inclusion Criteria:\n\n* Male sex\n* Age between 2 and 24 years at the time of enrollment\n* Genetically confirmed dystrophinopathy with a pathogenic or likely pathogenic variant in the DMD gene\n* Genetic confirmation based on at least one validated method, including MLPA, NGS, Sanger sequencing, array-CGH, or qPCR\n* Written informed consent from parents or legal guardians and, where applicable, consent from the participant\n\nExclusion Criteria:\n\n* Absence of a genetically confirmed diagnosis of dystrophinopathy, including:\n* diagnosis based solely on muscle biopsy without molecular confirmation of a pathogenic or likely pathogenic DMD gene variant\n* absence of a confirmed pathogenic variant in the DMD gene, even if maternal carrier status has been identified, unless repeat genetic testing confirms a pathogenic variant in the participant\n* Presence of congenital heart disease or other genetic disorders causing primary cardiomyopathy\n* Presence of other neuromuscular disorders\n* Female carriers, including both manifesting and asymptomatic carriers\n* Comorbidities that may independently affect cardiac function, such as severe arterial hypertension, diabetes mellitus, or chronic kidney disease","2 Years","24 Years",{"count":136,"type":19},65,"The goal of this observational study is to investigate whether the type, location, and extent of pathogenic variants in the DMD gene are associated with cardiac dysfunction in male children, adolescents, and young adults with dystrophinopathies. The study also evaluates whether cardiac biomarkers and electrocardiographic findings can facilitate the early identification of cardiac involvement. Participants will undergo electrocardiography, blood sampling for cardiac biomarker assessment, and transthoracic echocardiography, with cardiac dysfunction evaluated using ejection fraction (EF) and global longitudinal strain (GLS).",[24,26,25],[140,141,142,89,143,144,145,146,147],"DMD gene","Non-HDL Cholesterol","NT-proBNP","Duchenne muscular dystrophy","Becker muscular dystrophy","Cardiac dysfunction","Global longitudinal strain","hs-TnT","2026-03-31",{"date":150,"type":39},"2026-04-07",{"date":152,"type":39},"2026-01-26",{"date":154,"type":19},"2028-02",{"name":156,"class":46},"Aristotle University Of Thessaloniki",{"id":158,"slug":159,"hasResults":11,"nctId":160,"briefTitle":161,"officialTitle":162,"acronym":163,"eligibilityCriteria":164,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":165,"targetDuration":167,"studyType":21,"phases":4,"briefSummary":168,"conditions":169,"keywords":170,"overallStatus":175,"whyStopped":4,"lastUpdateSubmitDate":176,"lastUpdatePostDateStruct":177,"startDateStruct":179,"completionDateStruct":181,"leadSponsor":183,"locationsCount":185},"100623860","registry-for-duchenne-and-becker-muscular-dystrophy-100623860","NCT07402122","Registry for Duchenne and Becker Muscular Dystrophy","Development and Implementation of a Transparent Registry Based on FAIR Principles for Duchenne and Becker Muscular Dystrophy (DBMD) Under the Auspices of the Society for Neuropediatrics (GNP) - FAIR-DMD","FAIR-DMD","Inclusion Criteria:\n\n* Genetically confirmed diagnosis of dystrophinopathy\n* Female carriers only if they show clinical symptoms of a dystrophinopathy\n* Treatment in one of the participating centers\n* No age restrictions\n* Ability to understand the patient information and sign the informed consent\n* Consent capability by the patient themselves and\u002For by the parents\n* Agreement to data exchange between the treating physicians, the telemedicine platform, and the registry\n* Possession of a tablet or a smartphone\n\nExclusion Criteria:\n\n* Missing legally valid consent form from the patient and\u002For legal guardians\n* Project content is not understandable to the participant and\u002For legal guardians\n* Not in possession of a tablet or smartphone",{"count":166,"type":19},1500,"15 Years","Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys. The established \"standard of care\" has improved prognosis; however, a causal therapy is not yet available. In 2024 and 2025, the first disease-modifying therapies were approved. These include Vamorolone (Agamree®) as a corticosteroid replacement with a more favorable side-effect profile for children aged four and older, and Givinostat (Duvyzat®) as a combination therapy with corticosteroids for ambulatory boys aged six and older. In this context, the FAIR-DMD Registry was initiated. The registry is based on the so-called FAIR principles. The acronym FAIR stands for the data principles Findable, Accessible, Interoperable and Reusable. The international FAIR principles are guidelines for the description, storage, and publication of scientific or administrative data. The FAIR-DMD registry is a disease-specific, academically managed registry for patients with Duchenne and Becker muscular dystrophy (DMD\u002FBMD). Its goal is to systematically collect clinical data, scientifically monitor new disease-modifying therapies in routine care, and create an evidence-based foundation for the further development of diagnostics, therapy, and care structures. Furthermore, the registry collects data on patients' health related quality of live using an app for data entry. The FAIR-DMD Registry is being established under the auspices of the Society for Neuropediatrics (GNP) and operated in close coordination with Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). The GNP is a non-profit professional society that covers the entire spectrum of neuropediatric topics in clinical and cross-sector care. In the planned pilot phase, the GNP will act as trustee for financing. This model creates the opportunity to structurally address central challenges in health services research and establish a high-quality, internationally compatible registry structure. In the long term, the FAIR-DMD Registry aims to significantly improve care for DMD and BMD patients in German-speaking countries, evaluate the effectiveness of new therapies in clinical practice, and establish binding frameworks for quality-assured care.",[24,26,90],[171,29,26,94,89,172,173,174],"Muscular Dystrophies","FAIR Principles","Neuromuscular Diseases","Health Related Quality of Life (HRQoL)","NOT_YET_RECRUITING","2026-02-06",{"date":178,"type":39},"2026-02-11",{"date":180,"type":19},"2026-04",{"date":182,"type":19},"2041-06",{"name":184,"class":46},"Dr. Andreas Ziegler",2,{"id":187,"slug":188,"hasResults":11,"nctId":189,"briefTitle":190,"officialTitle":190,"acronym":4,"eligibilityCriteria":191,"healthyVolunteers":56,"sex":16,"minAge":20,"maxAge":4,"enrollmentInfo":192,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":194,"conditions":195,"keywords":4,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":198,"lastUpdatePostDateStruct":199,"startDateStruct":201,"completionDateStruct":203,"leadSponsor":205,"locationsCount":207},"100440770","biomarker-development-for-muscular-dystrophies-100440770","NCT05019625","Biomarker Development for Muscular Dystrophies","Inclusion Criteria:\n\n* Subjects with DM1 or DM2 based on genetic testing and\u002For clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.\n* Able to provide informed consent or assent for participation in the study.\n* Demographic characteristics for single biofluid collection: Males and females age 5 years and older.\n* Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.\n* Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.\n\nDemographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.\n\nExclusion Criteria:\n\n* Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and\u002For C positive.\n* Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.\n* Other. Inability or unwillingness of the subject to give written informed consent.",{"count":193,"type":19},465,"Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.",[196,29,26,197],"Myotonic Dystrophy","Facioscapulohumeral Muscular Dystrophy","2025-11-19",{"date":200,"type":39},"2025-11-24",{"date":202,"type":39},"2015-02-20",{"date":204,"type":19},"2028-06",{"name":206,"class":46},"Massachusetts General Hospital",5,{"id":209,"slug":210,"hasResults":11,"nctId":211,"briefTitle":212,"officialTitle":212,"acronym":4,"eligibilityCriteria":213,"healthyVolunteers":56,"sex":57,"minAge":20,"maxAge":214,"enrollmentInfo":215,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":217,"conditions":218,"keywords":219,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":222,"lastUpdatePostDateStruct":223,"startDateStruct":225,"completionDateStruct":227,"leadSponsor":229,"locationsCount":231},"100169857","magnetic-resonance-imaging-and-biomarkers-for-muscular-dystrophy-100169857","NCT01484678","Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy","Inclusion Criteria for boys with DMD:\n\n1\\. Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with DMD based on:\n\n* clinical features with onset of symptoms before age five\n* elevated serum creatine kinase level or\n* absence of dystrophin expression, as determined by immunostain or western blot (\\\u003C2%) and\u002For DNA confirmation of a dystrophin mutation \\*Subjects will not be excluded based on corticosteroid treatment or other clinical trials\n\nInclusion Criteria for adults with Becker MD:\n\n1. Ambulatory males (ages 18-62) without disease or injury to the lower extremities\n2. Specific recruitment of a subset of individuals with deletion mutations in the dystrophin gene involving either exon 51 or exon 45.\n\nInclusion Criteria for age matched controls for Becker MD subjects:\n\n1\\. Ambulatory males (ages 18-62) without disease or injury to the lower and\u002For upper extremities will be eligible to participate in this study\n\nExclusion Criteria:\n\n1. Males with a contraindication to an MR examination\n2. Males with unstable medical problems\n3. Males who are not able to cooperate during testing\n4. Males with a secondary condition that may impact muscle metabolism, muscle function or functional ability (i.e. cerebral palsy, endocrine disorders, mitochondrial disease)\n5. Daytime ventilation\n6. Implantable Cardioverter Defibrillator- (ICD) or pace maker\n7. Healthy boys\u002Fmen who participate in competitive sports specific training in excess of 8 hours per week","62 Years",{"count":216,"type":19},550,"The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD).\n\nThe investigators will compare the muscles of ambulatory or non-ambulatory boys\u002Fmen with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements.\n\nAdditionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk\u002Frespiratory muscles in boys\u002Fmen with DMD and BMD guiding clinical trials.",[29,26],[29,26,220,221,67],"Magnetic Resonance Spectroscopy","Magnetic Resonance Imaging","2025-10-13",{"date":224,"type":39},"2025-10-15",{"date":226,"type":39},"2020-09-01",{"date":228,"type":19},"2026-08-31",{"name":230,"class":46},"University of Florida",3,{"id":233,"slug":234,"hasResults":11,"nctId":235,"briefTitle":236,"officialTitle":236,"acronym":4,"eligibilityCriteria":237,"healthyVolunteers":11,"sex":16,"minAge":238,"maxAge":4,"enrollmentInfo":239,"targetDuration":4,"studyType":21,"phases":4,"briefSummary":241,"conditions":242,"keywords":245,"overallStatus":175,"whyStopped":4,"lastUpdateSubmitDate":251,"lastUpdatePostDateStruct":252,"startDateStruct":254,"completionDateStruct":256,"leadSponsor":258,"locationsCount":4},"100586596","muscle-mri-outlining-of-neuromuscular-diseases-using-artificial-intelligence-100586596","NCT06917430","Muscle MRI Outlining of Neuromuscular Diseases Using Artificial Intelligence","Inclusion Criteria:\n\n* Genetically verified diagnosis of neuromuscular diseases.\n* Age above 18 years\n\nExclusion Criteria:\n\n* Contraindications to perform an MRI\n* Competing disorders and other muscle disorders, which may alter measurements. The investigator will decide whether the competing disorder can significantly influence the results","18 Years",{"count":240,"type":19},120,"Background and aim:\n\nNeuromuscular diseases encompass a range of conditions affecting muscle cells, nerves, or the interaction between the two. A common pathological feature of these conditions is the pro-gressive replacement of muscle tissue with fat, which can be visualised using magnetic reso-nance imaging (MRI). MRI-based fat quantification serves as a key biomarker for disease characterisation, progression tracking, and treatment assessment. Currently, manual segmenta-tion of MRI scans for fat quantification is very time-consuming, requiring individual muscle delineation. Therefore, an artificial intelligence (AI) model is being developed to automate the segmentation. The aim of this study is to validate this AI model and assess its possibilities and limitations.\n\nMethod:\n\nThe study is ongoing. Retrospective MRI scans of patients with four different muscle diseases (anoctaminopathy, Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and hypokalemic periodic paralysis) are collected and manual delineation used for training the AI-model is being performed. The intramuscular fat fraction of individual muscles of the pelvis, thigh, and calf will be analysed using the AI model. The performance of the AI model will be compared to manual segmentation. The AI will be evaluated on metrics such as segmentation accuracy and time efficiency.",[26,243,244],"FSHD - Facioscapulohumeral Muscular Dystrophy","Hypokalemic Periodic Paralysis",[246,247,248,144,249,250],"AI","muscle delineation","automated segmentation","FSHD","HypoPP","2025-04-01",{"date":253,"type":39},"2025-04-08",{"date":255,"type":19},"2025-05-01",{"date":257,"type":19},"2035-01-01",{"name":259,"class":46},"Rigshospitalet, Denmark",{"id":261,"slug":262,"hasResults":11,"nctId":263,"briefTitle":264,"officialTitle":265,"acronym":266,"eligibilityCriteria":267,"healthyVolunteers":11,"sex":16,"minAge":268,"maxAge":4,"enrollmentInfo":269,"targetDuration":271,"studyType":21,"phases":4,"briefSummary":272,"conditions":273,"keywords":274,"overallStatus":35,"whyStopped":4,"lastUpdateSubmitDate":278,"lastUpdatePostDateStruct":279,"startDateStruct":281,"completionDateStruct":283,"leadSponsor":285,"locationsCount":104},"100437156","cureduchenne-link-a-resource-for-research-100437156","NCT04972604","CureDuchenne Link®: A Resource for Research","CureDuchenne Link®: A Resource to Support Research Studies in Duchenne and Becker Muscular Dystrophy (DMD\u002FBMD)","CDLink","Inclusion Criteria:\n\n1. Any of the following are true:\n\n   1. Currently has a confirmed diagnosis of DMD\u002FBMD based on genetic testing, muscle biopsy, or clinical diagnosis.\n   2. Currently has a confirmed diagnosis of carrier status for DMD\u002FBMD based on genetic testing.\n2. Parent\u002Fguardian (for minor participants) or participant gives informed consent and\u002For assent as required by local regulations.\n3. Is age 4 weeks or older at the time of consent.\n\nExclusion Criteria:\n\n1. Is a foster child or ward of the state.\n2. Is a prisoner.","4 Weeks",{"count":270,"type":19},5000,"10 Years","CureDuchenne link is a data hub comprised of integrated biospecimens, clinical data, and self- and\u002For caregiver-reported information from participants. Anyone over 4 weeks old who has been diagnosed with DMD or BMD or who is a carrier of DMD or BMD can join. Parents or legal guardians can sign up their child(ren).",[29,26],[275,276,277],"Carrier","DMD","BMD","2024-08-19",{"date":280,"type":39},"2024-08-20",{"date":282,"type":39},"2021-07-09",{"date":284,"type":19},"2031-07-09",{"name":286,"class":46},"CureDuchenne",{"id":288,"slug":289,"hasResults":11,"nctId":290,"briefTitle":291,"officialTitle":292,"acronym":4,"eligibilityCriteria":293,"healthyVolunteers":11,"sex":57,"minAge":294,"maxAge":295,"enrollmentInfo":296,"targetDuration":4,"studyType":298,"phases":299,"briefSummary":301,"conditions":302,"keywords":4,"overallStatus":175,"whyStopped":4,"lastUpdateSubmitDate":303,"lastUpdatePostDateStruct":304,"startDateStruct":306,"completionDateStruct":308,"leadSponsor":310,"locationsCount":4},"100557611","applying-the-pathways-and-resources-for-engagement-and-participation-protocol-among-people-with-muscles-dystrophies-100557611","NCT06540365","Applying the Pathways and Resources for Engagement and Participation Protocol Among People With Muscles Dystrophies","Feasibility and Effectiveness of the Pathways and Resources for Engagement and Participation Protocol Among Youth and Young Adults With Duchenne and Becker Muscle Dystrophies- A Pilot Study","Inclusion Criteria:\n\n* diagnosed with DBMD\n* aged 14-30 years\n* from any sector of Israeli society.\n\nExclusion Criteria:\n\n* have previously received the PREP intervention","14 Years","30 Years",{"count":297,"type":19},6,"INTERVENTIONAL",[300],"NA","Taking part in community activities is essential for health and well-being. Yet, it is highly restricted for young people with Duchenne and Becker Muscular Dystrophies (DBMD), especially as they grow into adulthood. The Participation Pathways and Resources for Engagement and Participation (PREP) intervention is designed to help remove barriers in the environment.\n\nThis study aims to see if the PREP intervention is useful and practical for youth and young adults with DBMD. The main question is: How useful is the PREP intervention for improving participation in community-based activities chosen by the participants? Participants will start the study at different times (4, 5, or 6 weeks) and work one-on-one with an occupational therapist on a leisure activity of their choice. They will have eight sessions over 12 to 18 weeks to work on this activity.\n\nThey will use the Canadian Occupational Performance Measure (COPM) every week to track their performance and satisfaction with the chosen activity before, during, and after the intervention. The findings of this study can guide clinicians, families, and policymakers to select effective approaches that promote the participation of youth and young adults with DBMD in 'real world' activities they choose. It can also increase motivation and compliance and reduce the burden on the healthcare system, families, and people with DBMD themselves.",[29,26],"2024-08-05",{"date":305,"type":39},"2024-08-06",{"date":307,"type":19},"2024-08",{"date":309,"type":19},"2025-02",{"name":311,"class":46},"University of Haifa"]