[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"duchenne-muscular-dystrophy-dmd\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:duchenne-muscular-dystrophy-dmd":29},{"pageToken":4,"total":5,"offset":6,"count":7,"results":8},null,30,0,25,[9,46,81,113,140,162,187,213,266,290,312,339,362,389,411,445,473,496,518,545,568,595,621,648,673],{"id":10,"slug":11,"hasResults":12,"nctId":13,"briefTitle":14,"officialTitle":15,"acronym":16,"eligibilityCriteria":17,"healthyVolunteers":12,"sex":18,"minAge":19,"maxAge":20,"enrollmentInfo":21,"targetDuration":4,"studyType":24,"phases":25,"briefSummary":27,"conditions":28,"keywords":30,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":40,"leadSponsor":42,"locationsCount":45},"100606239","phase-1-sodiumglucose-cotransporter-2-inhibitors-sglt2i-therapy-in-duchenne-cardiomyopathy-100606239",false,"NCT07172971","Sodium\u002FGlucose Cotransporter-2 Inhibitors (SGLT2i) Therapy in Duchenne Cardiomyopathy","duCHennE caRdiomyopathy mItigation Sglt2 inHibitor","CHERISH","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","MALE","8 Years","18 Years",{"count":22,"type":23},10,"ESTIMATED","INTERVENTIONAL",[26],"PHASE1","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.",[29],"Duchenne Muscular Dystrophy (DMD)",[31,32,33],"Cardiomyopathy","Heart failure","Muscular dystrophy","RECRUITING","2026-06-29",{"date":37,"type":38},"2026-07-01","ACTUAL",{"date":37,"type":23},{"date":41,"type":23},"2028-02-01",{"name":43,"class":44},"Larry W. Markham","OTHER",1,{"id":47,"slug":48,"hasResults":12,"nctId":49,"briefTitle":50,"officialTitle":51,"acronym":52,"eligibilityCriteria":53,"healthyVolunteers":12,"sex":18,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":4,"studyType":24,"phases":58,"briefSummary":60,"conditions":61,"keywords":62,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":70,"lastUpdatePostDateStruct":71,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":80},"100645342","phase-2-long-term-extension-study-in-participants-with-duchenne-muscular-dystrophy-amenable-to-exon-skipping-to-evaluate-the-safety-and-efficacy-of-endosomal-escape-vehicle-phosphorodiamidate-morpholino-oligomer-platform-products-elevate-lte-100645342","NCT07682129","Long-Term Extension Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon Skipping to Evaluate the Safety and Efficacy of Endosomal Escape Vehicle Phosphorodiamidate Morpholino Oligomer Platform Products (ELEVATE-LTE)","A Phase 2, Open-Label Long-Term Extension Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon Skipping to Assess the Long-Term Safety, Tolerability, Pharmacokinetics, and Efficacy of Endosomal Escape Vehicle Phosphorodiamidate Morpholino Oligomer Platform Products (ELEVATE-LTE)","ELEVATE-LTE","Inclusion Criteria:\n\n* Willing and able to provide consent (if at age of majority) or assent (if a minor)\n* Participant completed clinical study ENTR-601-44-201 or ENTR-601-45-201\n* Males who are sexually active with a female partner of childbearing potential must agree to use condoms during sexual intercourse\n\nExclusion Criteria:\n\n* Any change from the applicable parent study eligibility criteria, including safety events during the parent study, that in the opinion of the investigator in consultation with the medical monitor and\u002For sponsor designee precludes safe use of study drug\n* Participant has a condition or circumstance that in the view of the investigator places the subject at high risk of poor treatment compliance or for not completing the study","4 Years","20 Years",{"count":57,"type":23},80,[59],"PHASE2","This is a study of investigational medicines ENTR-601-44 and ENTR-601-45 designed to evaluate the long-term safety and tolerability of study drugs in participants with Duchenne muscular dystrophy (DMD).\n\nThe investigational medicines are currently being investigated in multiple ascending dose parent studies. After participants complete their respective parent study, there is a need to understand the effects of long-term administration of ENTR-601-44 and ENTR-601-45.\n\nParticipants enrolling in this study will begin this long-term extension (LTE) study at the dose level they received upon completion of the parent study with possible dose escalation in the LTE study based on emerging safety and efficacy data from the parent studies.\n\nParticipants will:\n\n* Receive study treatment in the form of multiple intravenous (IV) infusions (slow injections) into a vein over the course of several weeks\n* Visit the clinic regularly for checkups and tests such as: blood and urine tests, physical examinations, questionnaires, and excersice 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 results 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.",[29],[63,64,65,66,67,68],"Duchenne Muscular Dystrophy","DMD","Exon 44 skipping","Exon 45 skipping","exon skipping therapy","oligonucleotide therapy","NOT_YET_RECRUITING","2026-06-26",{"date":72,"type":38},"2026-07-02",{"date":74,"type":23},"2026-08",{"date":76,"type":23},"2032-03",{"name":78,"class":79},"Entrada Therapeutics, Inc.","INDUSTRY",17,{"id":82,"slug":83,"hasResults":12,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":4,"eligibilityCriteria":87,"healthyVolunteers":12,"sex":88,"minAge":4,"maxAge":4,"enrollmentInfo":89,"targetDuration":91,"studyType":92,"phases":4,"briefSummary":93,"conditions":94,"keywords":97,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":112},"100644920","modeling-mortality-in-duchenne-muscular-dystrophy-cardiomyopathy-identification-of-surrogate-outcome-measures-for-dmd-drug-trials-100644920","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":90,"type":23},1000,"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.",[29,31,95,96],"Becker Muscular Dystrophy","Carrier of Duchenne Muscular Dystrophy",[63,98,99,100,101,102],"cardiomyopathy","machine learning","cardiac MRI","Biomarker","Outcome measures","2026-06-24",{"date":105,"type":38},"2026-06-30",{"date":107,"type":38},"2025-01-06",{"date":109,"type":23},"2029-02-01",{"name":111,"class":44},"Vanderbilt University Medical Center",9,{"id":114,"slug":115,"hasResults":12,"nctId":116,"briefTitle":117,"officialTitle":118,"acronym":119,"eligibilityCriteria":120,"healthyVolunteers":12,"sex":18,"minAge":4,"maxAge":4,"enrollmentInfo":121,"targetDuration":4,"studyType":24,"phases":123,"briefSummary":125,"conditions":126,"keywords":127,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":131,"lastUpdatePostDateStruct":132,"startDateStruct":134,"completionDateStruct":136,"leadSponsor":138,"locationsCount":45},"100644445","digital-monitoring-of-upper-limb-function-in-non-ambulant-dmd-100644445","NCT07664124","Digital Monitoring of Upper Limb Function in Non-Ambulant DMD","Feasibility, Reliability, Clinical Validity and Sensitivity of Digital Outcomes to Monitor Upper Limb Function in Non-ambulant Patients With Genetically Confirmed Duchenne Muscular Dystrophy (DMD)","Acti-nRoll","Inclusion Criteria:\n\n* Patient with genetically confirmed Duchenne Muscular Dystrophy (DMD).\n* Non-ambulant at the time of inclusion (not able to walk 10m without external aid).\n* A legal guardian willing and able to provide written informed consent for participation in the study if \\\u003C 18 years old.\n\nExclusion Criteria:\n\n* Any acute or chronic condition that, in the opinion of the investigator, may significantly interfere with the assessments and\u002For motor function progression.\n* Participation in an interventional clinical trial.\n* No access to internet connection or alternatively no capacity to come on-site to bring the Syde every 6 months after the recording periods for data retrieval by Liège team\n* Scoliosis surgery within the previous 6 months or planned within the next year",{"count":122,"type":23},50,[124],"NA","Duchenne Muscular Dystrophy (DMD) is a rare genetic disorder caused by the absence of dystrophin, leading to progressive muscle degeneration. Symptoms typically begin in early childhood and result in loss of ambulation by early adolescence, followed by cardiorespiratory complications. Although early treatment, including corticosteroids and emerging therapies, can slow disease progression, sensitive tools to monitor functional decline-particularly in non-ambulant patients-remain limited.\n\nCurrent assessments rely primarily on clinical scales and hospital-based evaluations, which may not detect subtle changes or reflect real-life function. Digital outcome measures derived from wearable sensors offer a promising approach for continuous, objective monitoring in daily life. This study aims to evaluate the feasibility, reliability, clinical validity, and sensitivity of digital measures to assess upper limb function in non-ambulant patients with genetically confirmed DMD. The Syde device, previously validated in ambulant DMD patients, will be investigated for its applicability in this population.",[29],[128,129,130],"Non-ambulant","digital endpoint","upper limb","2026-06-18",{"date":133,"type":38},"2026-06-23",{"date":135,"type":23},"2026-07-30",{"date":137,"type":23},"2030-04-30",{"name":139,"class":44},"Centre Hospitalier Universitaire de Liege",{"id":141,"slug":142,"hasResults":12,"nctId":143,"briefTitle":144,"officialTitle":144,"acronym":4,"eligibilityCriteria":145,"healthyVolunteers":12,"sex":18,"minAge":20,"maxAge":4,"enrollmentInfo":146,"targetDuration":4,"studyType":24,"phases":147,"briefSummary":148,"conditions":149,"keywords":150,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":154,"lastUpdatePostDateStruct":155,"startDateStruct":157,"completionDateStruct":159,"leadSponsor":161,"locationsCount":45},"100642538","phase-1-glucagon-like-peptide-1-receptor-agonists-to-attenuate-metabolic-risk-in-individuals-with-duchenne-muscular-dystrophy-100642538","NCT07642635","Glucagon-Like Peptide-1 Receptor Agonists to Attenuate Metabolic Risk in Individuals With Duchenne Muscular Dystrophy","Inclusion Criteria:\n\n* Male\n* Age ≥18years\n* BMI ≥ 30kg\u002Fm2 or BMI ≥ 27kg\u002Fm2 with at least one weight-related comorbid condition (e.g., hypertension, T2D, or dyslipidemia).\n* Clinical phenotype of DMD confirmed with muscle biopsy or genotype\n\nExclusion Criteria:\n\n* Type 1 diabetes, uncontrolled type 2 diabetes (HbA1c \\>8%) or type 2 diabetes requiring the use of insulin or sulfonylurea.\n* History of pancreatitis\n* Personal or family history of medullary thyroid carcinoma or multiple endocrine neoplasia type 2\n* History of allergic reaction to semaglutide or medication components\n* Contraindication to MRI. If unable to tolerate whole body\u002Fcardiac MRI but able to undergo lower extremity MRI, the participant may be invited to complete extremity MRI (Aim 1) and not complete MRI for Aim 2\u002F3 (secondary Aims\u002Foutcomes)\n* Uncontrolled major depressive disorder, lifetime history of suicide attempt, history of other severe psychiatric disorders (e.g., schizophrenia, bipolar disorder), PHQ-9 score ≥15 or suicidal ideation type 4 or 5 (C-SSRS)\n* Unable to comply with study procedures or unsafe to complete the study in the opinion of the investigator",{"count":5,"type":23},[26,59],"Duchenne Muscular Dystrophy (DMD) is a rare, genetic disease that leads to muscle weakness, breathing difficulties, heart disease, and early death. Approximately half of individuals with DMD have elevated body mass indices (BMIs) in the overweight or obesity range. High BMI is due to a combination of factors including limited mobility and steroid medications, which are used to treat DMD.\n\nThere are new medications, glucagon-like peptide-1 receptor agonists (GLP-1 RAs) that promote weight loss in the general population. GLP-1 RAs are approved for weight loss in children and adults and have beneficial effects on the heart. There is a concern that these medications could have unwanted side effects in individuals with DMD, specifically decreasing their muscle mass. While it is important to consider the use weight-loss medications in DMD, the investigators want to ensure that they are safe and well-tolerated. Therefore, this study will systematically evaluate whether the use of GLP-1 RAs in adolescents and young adults with DMD affects muscle mass.\n\nThe overall goal of this study is to assess the safety and tolerability of GLP1-RAs in individuals with both DMD and obesity. The primary focus will be on muscle health, but the study will also evaluate activity levels, mood, gastrointestinal symptoms, and quality of life. Secondary goals will be to understand the impact of GLP1-RAs on weight, fat mass, glucose and insulin levels, and heart and lung function in individuals with DMD. The investigators hypothesize that GLP1-RAs will be well-tolerated and will decrease fat mass, without a large decrease in muscle mass.\n\nParticipants will:\n\n* Take oral semaglutide or a placebo every day for 24 weeks (randomized controlled trial)\n* Then take oral semaglutide every day for 40 weeks (open label extension)\n* Complete in-person study visits at 3 timepoints\n* Study visits may include: an MRI of the body to evaluate muscle and fat tissue, laboratory testing, a mixed meal tolerance test, questionnaires, an MRI of the heart, pulmonary function tests, and additional measures\n* Calls with the study team between visits (monthly or every other month)",[29],[151,152,153],"Duchenne muscular dystrophy","Obesity","Glucagon-Like Peptide-1 Receptor Agonists","2026-06-09",{"date":156,"type":38},"2026-06-11",{"date":158,"type":23},"2026-09-01",{"date":160,"type":23},"2030-12",{"name":111,"class":44},{"id":163,"slug":164,"hasResults":12,"nctId":165,"briefTitle":166,"officialTitle":167,"acronym":168,"eligibilityCriteria":169,"healthyVolunteers":170,"sex":18,"minAge":171,"maxAge":172,"enrollmentInfo":173,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":175,"conditions":176,"keywords":177,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":154,"lastUpdatePostDateStruct":180,"startDateStruct":182,"completionDateStruct":183,"leadSponsor":185,"locationsCount":45},"100625468","a-remote-study-using-technology-to-assess-outcomes-in-dmd-100625468","NCT07423026","A Remote Study Using Technology to Assess Outcomes in DMD","TODDLER Study: Transforming Outcomes in Duchenne Muscular Dystrophy Using DigitaL Endpoints Remotely","TODDLER","Inclusion Criteria:\n\nParticipant with DMD:\n\n* Male\n* Aged 1-3 years old\n* Ambulant (walking 10m independently)\n* Genetically confirmed diagnosis of DMD\n* Parent(s)\u002Flegal guardian(s) able and willing to provide written informed consent for the child to participate in the study\n* Parent(s)\u002Flegal guardian(s) able and willing to participate in the study\n\nParent\u002Flegal guardian of participant with DMD:\n\n* Aged 18 years or more\n* Legal carer of the patient diagnosed with DMD\n* Willingness to follow study procedures and assist with remote assessments, as assessed by the research team\n* Willingness to sign the consent form\n* Ability to understand all the information with regards to the study, as assessed by the research team\n\nHealthy Control participant:\n\n* Male\n* Aged 1-3 years old\n* Ambulant (walking 10m independently)\n* Parent(s)\u002Flegal guardian\n\nExclusion Criteria:\n\nParticipant with DMD:\n\n* Limb surgery\u002Ftrauma (within 6 months)\n* Significant comorbid chronic or acute conditions affecting motor function (within 3 weeks)\n* Prematurity (born \\\u003C37 weeks' gestation)\n* Oral corticosteroids to treat DMD (before enrolment)\n* Enrolment in therapeutic clinical trials\n* Any comorbidity which could limit their ability to complete the study assessments (according to the investigator's clinical judgement)\n\nHealthy Control participant:\n\n* Limb surgery\u002Ftrauma (within 6 months)\n* Significant comorbid chronic condition affecting motor function\n* Significant acute condition affecting motor function (within 3weeks of enrolment)\n* Prematurity (born \\\u003C37 weeks' gestation)\n* Neurodevelopmental concerns or delay in acquisition of WHO developmental milestones.\n* Any comorbidity which could limit their ability to complete the study assessments (according to the investigator's clinical judgement).",true,"1 Year","3 Years",{"count":174,"type":23},60,"Every year, 100 boys are born in the UK with a rare muscle disease called Duchenne muscular dystrophy. These boys cannot make an important muscle protein called dystrophin. They become weaker as they get older and lose the ability to walk as teenagers. This is a life-limiting condition. There is no cure, but medicines are being made that could help these boys make dystrophin. These medicines are most likely to work best in toddlers, before their muscles become damaged.\n\nThere is no way of testing these medicines in children under four. In older children, it is possible to measure how well and how quickly a child can do movements like sitting up, standing up, and running. Unfortunately, these tests are not suitable for toddlers as they often struggle to listen and do what they are asked to do. Tiredness and mood can also affect their scores. Luckily, there is a new way of testing how well children move. They can wear special watch-like devices on their ankles that record information about their steps as they go about their normal lives. This is a good way of testing how well a child walks. It is now used to test medicines in children over four years old. Our aim is to test whether this device works well in children under four.\n\nThis study will invite 30 boys with DMD (and their parent\u002Fcaregiver) and 30 boys without DMD aged 1-3 years old from across the country to join the study. There are no hospital visits. Children will receive the watch-like devices to wear for three blocks of 28-days over six months during their normal daily activities. At the start and end of the study, a physiotherapist will visit the homes of boys with DMD. They will check their movements using other tests. The investigators will find out 1) if young boys are happy to wear the device, 2) how it compares to other tests, and 3) if it can detect changes in walking ability.\n\nThis study could give us a way to test medicines in younger children. Wearable devices could cut down the travel and stress of tests for boys and their families. Children with learning or behavioural difficulties, and children living far from research centres could now also take part in studies of new medicines. This study could bring us a step closer to treating this life-limiting disease.",[29],[64,178,179],"Devices","children",{"date":181,"type":38},"2026-06-10",{"date":103,"type":23},{"date":184,"type":23},"2028-07-01",{"name":186,"class":44},"University of Oxford",{"id":188,"slug":189,"hasResults":12,"nctId":190,"briefTitle":191,"officialTitle":192,"acronym":4,"eligibilityCriteria":193,"healthyVolunteers":12,"sex":88,"minAge":4,"maxAge":4,"enrollmentInfo":194,"targetDuration":55,"studyType":92,"phases":4,"briefSummary":196,"conditions":197,"keywords":200,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":204,"lastUpdatePostDateStruct":205,"startDateStruct":207,"completionDateStruct":209,"leadSponsor":211,"locationsCount":22},"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":195,"type":23},2500,"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.",[29,95,198,199],"Dystrophinopathy","Dystrophinopathy Symptomatic Female Carrier",[201,202,198,203],"Duchenne","Becker","Muscular Dystrophy","2026-05-21",{"date":206,"type":38},"2026-05-27",{"date":208,"type":38},"2022-12-01",{"date":210,"type":23},"2072-12",{"name":212,"class":44},"The Duchenne Registry",{"id":214,"slug":215,"hasResults":12,"nctId":216,"briefTitle":217,"officialTitle":218,"acronym":219,"eligibilityCriteria":220,"healthyVolunteers":12,"sex":18,"minAge":54,"maxAge":20,"enrollmentInfo":221,"targetDuration":4,"studyType":24,"phases":223,"briefSummary":225,"conditions":226,"keywords":238,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":259,"lastUpdatePostDateStruct":260,"startDateStruct":261,"completionDateStruct":263,"leadSponsor":265,"locationsCount":45},"100638348","phase-3-efficacy-safety-and-tolerability-of-zeleciment-rostudirsen-dyne-251-administered-intravenously-every-4-weeks-in-ambulatory-participants-with-duchenne-muscular-dystrophy-forzetto-100638348","NCT07608432","Efficacy, Safety, and Tolerability of Zeleciment Rostudirsen (DYNE-251) Administered Intravenously Every 4 Weeks in Ambulatory Participants With Duchenne Muscular Dystrophy (FORZETTO)","A Phase 3, Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy, Safety, and Tolerability of DYNE-251 Administered Intravenously in Ambulatory Male Participants 4 to 18 Years of Age With Duchenne Muscular Dystrophy Amenable to Exon-51 Skipping","FORZETTO","Inclusion Criteria:\n\n* Ambulatory male with confirmed diagnosis of DMD and with a mutation in the dystrophin gene characterized by exon deletion amenable to exon 51 skipping .\n* Rise From Floor (RFF) time must be \\\u003C 10 seconds for both screening assessments .\n* Receiving a stable daily or weekend dosage of glucocorticoids for at least 24 weeks prior to randomization with the expectation of maintaining a stable dose during the Placebo-Controlled Period of the study (unless dose adjustment is required by weight change)\n\nExclusion Criteria:\n\n* Receipt of ongoing immunosuppressive therapy (other than glucocorticoids) within 12 weeks prior to randomization\n* Use of any pharmacologic treatment (other than glucocorticoids) that may have an effect on muscle strength or function within 12 weeks prior to randomization\n* Any change in prophylaxis\u002Ftreatment for congestive heart failure (CHF) within 12 weeks prior to randomization\n* Receipt of eteplirsen within 1 week prior to randomization\n* Receipt of alternative exon-skipping or dystrophin-modifying therapy or zeleciment rostudirsen within 24 weeks prior to randomization\n* Receipt of givinostat within 12 weeks prior to randomization\n* Receipt of gene therapy at any time\n\nNote: Other inclusion or exclusion criteria may apply",{"count":222,"type":23},90,[224],"PHASE3","The purpose of the study is to assess the efficacy, safety, and tolerability of zeleciment rostudirsen (DYNE-251) administered intravenously (IV) every 4 weeks to ambulatory Duchenne muscular dystrophy (DMD) participants, 4 to 18 years of age, with dystrophin mutations amenable to exon 51 skipping.",[29,227,228,64,229,230,231,232,233,234,235,236,237],"Muscular Dystrophy, Duchenne","Muscular Dystrophy (DMD)","Muscular Dystrophies","Muscular Dystrophy in Children","Muscular Dystrophy, Duchenne Type","Muscular Dystrophy, Duchenne and Becker Types","Muscular Dystrophies (Duchenne, Becker, Myotonic Dystrophy)","Genetic Disease, Inborn","Genetic Disease, X-Linked","Congenital, Hereditary, and Neonatal Diseases and Abnormalities","Neuromuscular Diseases (NMD)",[239,64,63,201,240,241,242,243,244,245,219,246,247,248,249,250,251,252,253,254,255,256,257,258],"Ambulatory","Dyne","Dyne Therapeutics","DYNE-251","Dystrophy","Exon Skipping","Exon 51","Pediatric","PMO","Muscle Function","Muscular Dystropy, Duchenne","Rise From Floor","RFF","RFF Velocity","Rostudirsen","Time to rise","TTR","TTR Velocity","Zeleciment rostudirsen","Z-rostudirsen","2026-05-20",{"date":206,"type":38},{"date":262,"type":23},"2026-06",{"date":264,"type":23},"2032-10",{"name":241,"class":79},{"id":267,"slug":268,"hasResults":12,"nctId":269,"briefTitle":270,"officialTitle":270,"acronym":4,"eligibilityCriteria":271,"healthyVolunteers":12,"sex":18,"minAge":272,"maxAge":20,"enrollmentInfo":273,"targetDuration":4,"studyType":24,"phases":275,"briefSummary":276,"conditions":277,"keywords":279,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":281,"lastUpdatePostDateStruct":282,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":45},"100596003","the-effect-of-virtual-reality-applications-on-upper-extremity-functions-in-patients-with-duchenne-muscular-dystrophy-100596003","NCT07039799","The Effect of Virtual Reality Applications on Upper Extremity Functions in Patients With Duchenne Muscular Dystrophy","Inclusion Criteria:\n\n* Clinical diagnosis of Duchenne Muscular Dystrophy (DMD)\n* Age ≥ 7 years\n* Ambulatory or non-ambulatory status (both are eligible)\n* Ability to follow movement instructions\n* Brooke Upper Extremity Functional Rating Scale (BUEFS) level ≤ 4 (i.e., able to bring hand to mouth)\n\nExclusion Criteria:\n\n* Presence of any neurological diagnosis other than DMD\n* Cognitive, behavioral, or communication impairments that limit participation\n* Systemic illness or condition interfering with participation\n* Severe visual impairments incompatible with VR headset use\n* Presence of severe contractures or deformities that prevent execution of VR-based exercises","7 Years",{"count":274,"type":23},36,[124],"This study aims to evaluate the effects of fully immersive virtual reality (VR) applications on upper extremity (UE) functions in individuals diagnosed with Duchenne Muscular Dystrophy (DMD). DMD is a progressive neuromuscular disorder that leads to muscle weakness and loss of function, including the upper limbs, which are essential for daily activities and independence.\n\nIn this randomized controlled trial, 36 participants with DMD will be divided into two groups: a control group receiving conventional physiotherapy and an intervention group receiving the same physiotherapy program (excluding upper extremity exercises) combined with VR-based exercises. The VR games will be designed specifically to improve shoulder, elbow, wrist, and hand functions and will be delivered using Meta Quest 3 headsets with hand-tracking capabilities.\n\nBoth groups will receive therapy twice a week for 8 weeks. Assessments will be conducted before and after the intervention, and at follow-up, using validated tools to measure UE function, grip strength, fine motor skills, trunk control, fatigue, quality of life, and participation in daily activities.\n\nThe study aims to explore innovative rehabilitation strategies for DMD and contribute to improving the independence and quality of life of affected individuals.",[29,278],"Virtual Reality",[63,278,280],"Upper Extremity","2026-05-15",{"date":283,"type":38},"2026-05-19",{"date":285,"type":38},"2025-08-15",{"date":287,"type":23},"2027-08-15",{"name":289,"class":44},"Istanbul University",{"id":291,"slug":292,"hasResults":12,"nctId":293,"briefTitle":294,"officialTitle":295,"acronym":296,"eligibilityCriteria":297,"healthyVolunteers":12,"sex":18,"minAge":54,"maxAge":55,"enrollmentInfo":298,"targetDuration":4,"studyType":24,"phases":300,"briefSummary":301,"conditions":302,"keywords":303,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":281,"lastUpdatePostDateStruct":304,"startDateStruct":306,"completionDateStruct":308,"leadSponsor":310,"locationsCount":311},"100595928","phase-1-a-study-in-participants-with-duchenne-muscular-dystrophy-amenable-to-exon-45-skipping-to-evaluate-the-safety-and-efficacy-of-entr-601-45-100595928","NCT07038824","A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 45 Skipping to Evaluate the Safety and Efficacy of ENTR-601-45","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)","ELEVATE-45","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\u002For 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.",{"count":299,"type":23},24,[26,59],"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.",[29],[63,64,67,68],{"date":305,"type":38},"2026-05-18",{"date":307,"type":38},"2025-08-30",{"date":309,"type":23},"2029-03-01",{"name":78,"class":79},15,{"id":313,"slug":314,"hasResults":12,"nctId":315,"briefTitle":316,"officialTitle":317,"acronym":4,"eligibilityCriteria":318,"healthyVolunteers":12,"sex":18,"minAge":319,"maxAge":272,"enrollmentInfo":320,"targetDuration":4,"studyType":24,"phases":321,"briefSummary":323,"conditions":324,"keywords":325,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":330,"lastUpdatePostDateStruct":331,"startDateStruct":333,"completionDateStruct":335,"leadSponsor":337,"locationsCount":45},"100607396","early-phase-1-safety-and-dystrophin-expression-of-spot-03-in-duchenne-muscular-dystrophy-dmd-patients-100607396","NCT07188012","Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients","A Pilot Study for the Safety and Expression of Dystrophin in Skeletal Muscle After SPOT-03 Administration in Duchenne Muscular Dystrophy (DMD) Patients","Inclusion Criteria:\n\n1. According to the requirements of the region\u002Fcountry and\u002For IRB\u002FIEC, the patient and\u002For legal guardian have signed a written informed consent form and are aware of all relevant study content.\n2. Boys aged ≥ 2 years to \\\u003C 8 years and capable of walking independently 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\u002Fmin\u002F1.73 m2\n\nExclusion Criteria:\n\n1. Complications other than DMD that may cause muscle weakness and\u002For 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\u002FdL\n   3. Creatinine ≥ 1.8 mg\u002FdL\n   4. Hemoglobin \\\u003C 8 or \\> 18 g\u002FdL\n   5. White blood cell count \\> 18,500\u002FμL\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.","2 Years",{"count":112,"type":23},[322],"EARLY_PHASE1","The primary objective of this study is to evaluate the safety and tolerability of SPOT-03 administered by intravenous (IV) infusion to DMD patients. In addition, this study will preliminarily investigate the changes in dystrophin nucleic acid concentration, dystrophin protein expression and engraftment, anti-dystrophin antibodies and cytokine profiles, as well as fat tissue mas and lean tissue mass following SPOT-03 administrations.",[29],[63,326,327,328,329],"North Star Ambulatory Assessment","Dystrophin","Gene Therapy","Extracellular Vesicles","2026-05-01",{"date":332,"type":38},"2026-05-07",{"date":334,"type":38},"2025-08-06",{"date":336,"type":23},"2026-12",{"name":338,"class":79},"Shanghai Siponuoyin Biotechnology Co Ltd",{"id":340,"slug":341,"hasResults":12,"nctId":342,"briefTitle":343,"officialTitle":343,"acronym":344,"eligibilityCriteria":345,"healthyVolunteers":12,"sex":18,"minAge":346,"maxAge":172,"enrollmentInfo":347,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":349,"conditions":350,"keywords":351,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":353,"lastUpdatePostDateStruct":354,"startDateStruct":356,"completionDateStruct":358,"leadSponsor":360,"locationsCount":45},"100600057","the-baby-duchenne-study-characterizing-developmental-and-clinical-outcomes-in-the-first-three-years-in-children-with-duchenne-muscular-dystrophy-100600057","NCT07092540","The Baby Duchenne Study: Characterizing Developmental and Clinical Outcomes in the First Three Years in Children With Duchenne Muscular Dystrophy","BABY DUCHENNE","Inclusion Criteria:\n\n* Male child between birth and 3.0 years of age at time of enrollment.\n* A confirmed and documented pathogenic or likely pathogenic variant in the DMD gene.\n* Ability of parent\u002Fguardian to understand and provide written informed consent (signing Parental Permission and Consent Form).\n* Willingness of parent\u002Fguardian to comply with the protocol Schedule of Activities, including all study site visits.\n\nExclusion Criteria:\n\n* Female\n* Presence of any confirmed genetic disease, other than DMD, that could impact early development, which, in the opinion of the PI, may confound interpretation of developmental progress.\n* Presence of any significant medical condition (i.e., extreme prematurity, hypoxic ischemic encephalopathy) which, in the opinion of the PI, may confound interpretation of the clinical course of DMD.\n* Inability\u002Funwillingness of parent\u002Fguardian to provide written permission (sign PPF) or to comply with the protocol Schedule of Activities.","0 Days",{"count":348,"type":23},105,"The aim of the BABY DUCHENNE study is to evaluate the natural history and characterize the early clinical outcomes in very young children (0-3 years) with Duchenne muscular dystrophy (DMD) identified by newborn screening programs.",[29],[352],"New born screening","2026-04-27",{"date":355,"type":38},"2026-05-04",{"date":357,"type":23},"2026-05-30",{"date":359,"type":23},"2029-08-31",{"name":361,"class":44},"University of Rochester",{"id":363,"slug":364,"hasResults":12,"nctId":365,"briefTitle":366,"officialTitle":367,"acronym":368,"eligibilityCriteria":369,"healthyVolunteers":12,"sex":88,"minAge":4,"maxAge":4,"enrollmentInfo":370,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":372,"conditions":373,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":380,"lastUpdatePostDateStruct":381,"startDateStruct":383,"completionDateStruct":385,"leadSponsor":387,"locationsCount":45},"100628864","invasive-home-ventilation-in-denmark-100628864","NCT07467187","Invasive Home Ventilation in Denmark","The Evolution of Invasive Home Mechanical Ventilation in Denmark","HOMEVENT DK","Inclusion Criteria:\n\n* Patients are included if they have or have had a respiratory certified personale care assistent during the period 2016-2025.\n\nExclusion Criteria:\n\n* Not tracheostomized\n* Tracheostomized but on spontaneous breathing throughout 1 January 2016 - 31 December 2025\n* Not discharged to home, assisted living, nursing home, or rehabilitation during 1 January 2016 - 31 December 2025",{"count":371,"type":23},450,"The aim of this study is to describe national trends over the past 10 years in patients receiving invasive home mechanical ventilation (HMV) in Denmark. This includes indications for invasive HMV, diagnostic groups, and one-year mortality.",[237,374,375,29,376,377,378,379],"ALS (Amyotrophic Lateral Sclerosis)","Spinal Cord Injuries (SCI)","SMA - Spinal Muscular Atrophy","MSA - Multiple System Atrophy","Tracheostomized Patients","Tracheostomy","2026-04-15",{"date":382,"type":38},"2026-04-20",{"date":384,"type":38},"2026-04-13",{"date":386,"type":23},"2028-09-01",{"name":388,"class":44},"Rigshospitalet, Denmark",{"id":390,"slug":391,"hasResults":12,"nctId":392,"briefTitle":393,"officialTitle":394,"acronym":4,"eligibilityCriteria":395,"healthyVolunteers":170,"sex":18,"minAge":319,"maxAge":396,"enrollmentInfo":397,"targetDuration":4,"studyType":24,"phases":398,"briefSummary":399,"conditions":400,"keywords":4,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":402,"lastUpdatePostDateStruct":403,"startDateStruct":405,"completionDateStruct":407,"leadSponsor":409,"locationsCount":45},"100618468","urinary-titin-biomarker-in-dmd-100618468","NCT07332013","Urinary Titin Biomarker in DMD","Non-invasive Evaluation of Urinary Titin as an IND-enabling Biomarker for Use in Duchenne Muscular Dystrophy (DMD) Clinical Trials","DMD\u002FBMD Subject Inclusion\u002FExclusion Criteria\n\nInclusion Criteria:\n\n1. Ambulatory at screening\n2. Genetically confirmed diagnosis of DMD\u002FBMD\n3. Parental\u002Fguardian 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\u002Fguardian unable to provide informed consent\n\nHealthy Control Subject Inclusion\u002FExclusion 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\u002Fguardian 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\u002Fguardian unable to provide informed consent","10 Years",{"count":122,"type":23},[124],"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\u002Fintensity 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.",[29,401],"Becker's Muscular Dystrophy (BMD)","2026-04-07",{"date":404,"type":38},"2026-04-08",{"date":406,"type":38},"2026-03-04",{"date":408,"type":23},"2029-12",{"name":410,"class":44},"Children's Hospital of Philadelphia",{"id":412,"slug":413,"hasResults":12,"nctId":414,"briefTitle":415,"officialTitle":415,"acronym":4,"eligibilityCriteria":416,"healthyVolunteers":170,"sex":88,"minAge":91,"maxAge":4,"enrollmentInfo":417,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":419,"conditions":420,"keywords":422,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":435,"lastUpdatePostDateStruct":436,"startDateStruct":438,"completionDateStruct":440,"leadSponsor":442,"locationsCount":444},"100580605","establishing-walking-related-digital-biomarkers-in-rare-childhood-onset-progressive-neuromuscular-disorders-100580605","NCT06839469","Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders","Inclusion Criteria:\n\n* Genetic confirmation of disease (DMD, SMA) or healthy control\n* Able to walk independently at least 25 meters\n* Ongoing corticosteroids therapy or initiation of corticosteroid therapy in the previous 3 months for DMD\n* Stable dose of FDA approved SMN up-regulator therapy or in an open-label extension phase of a study treatment for at least 6 months for SMA or gene replacement at enrollment for SMA or DMD participants.\n\nExclusion Criteria:\n\n* Use foot orthoses or assistive devices for community ambulation or a mobility device for community navigation\n* Use investigational medications intended for treatment of NMD within 30 days\n* Prior to study entry had an injury or surgery that would impact gait within the previous 3 months",{"count":418,"type":23},106,"The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.",[421,29],"Spinal Muscular Atrophy Type 3",[423,424,425,64,426,427,428,429,430,431,432,433,434],"SMA","spinal muscular atrophy","duchenne muscular dystrophy","instrumented insole","neuromuscular disease","machine learning model","gait analysis","functional biomarker","wearable","six minute walk test","ambulatory","becker phenotype","2026-04-06",{"date":437,"type":38},"2026-04-09",{"date":439,"type":38},"2024-05-01",{"date":441,"type":23},"2028-04-01",{"name":443,"class":44},"Columbia University",3,{"id":446,"slug":447,"hasResults":12,"nctId":448,"briefTitle":449,"officialTitle":450,"acronym":4,"eligibilityCriteria":451,"healthyVolunteers":12,"sex":18,"minAge":319,"maxAge":452,"enrollmentInfo":453,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":455,"conditions":456,"keywords":457,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":465,"lastUpdatePostDateStruct":466,"startDateStruct":467,"completionDateStruct":469,"leadSponsor":471,"locationsCount":45},"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","24 Years",{"count":454,"type":23},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).",[29,95,31],[458,459,460,198,151,461,462,463,464],"DMD gene","Non-HDL Cholesterol","NT-proBNP","Becker muscular dystrophy","Cardiac dysfunction","Global longitudinal strain","hs-TnT","2026-03-31",{"date":402,"type":38},{"date":468,"type":38},"2026-01-26",{"date":470,"type":23},"2028-02",{"name":472,"class":44},"Aristotle University Of Thessaloniki",{"id":474,"slug":475,"hasResults":12,"nctId":476,"briefTitle":477,"officialTitle":478,"acronym":4,"eligibilityCriteria":479,"healthyVolunteers":12,"sex":480,"minAge":481,"maxAge":396,"enrollmentInfo":482,"targetDuration":4,"studyType":24,"phases":484,"briefSummary":485,"conditions":486,"keywords":4,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":487,"lastUpdatePostDateStruct":488,"startDateStruct":490,"completionDateStruct":492,"leadSponsor":494,"locationsCount":4},"100629521","a-study-to-evaluate-the-safety-and-tolerability-of-rituxan-in-duchenne-muscular-dystrophy-100629521","NCT07475754","A Study to Evaluate the Safety and Tolerability of Rituxan in Duchenne Muscular Dystrophy","A Single-arm, Non-blind, Single-center Study to Evaluate the Safety and Tolerability of Rituximab Down-regulating Immunoglobulin (Ig) Treatment in Children With Duchenne Muscular Dystrophy (DMD) Who Can Walk","Inclusion Criteria:\n\n1. Participant age: 6-10 years old (including 10 years old).\n2. Gender: male.\n3. Gene diagnosis of DMD gene type, conform to the DMD phenotypes and clinical manifestations.\n4. There has been a muscle weakness, symptoms of motor function decline.\n5. Patients could walk independently, able to complete 10 meters walk test. Lie on your back up,\n6. patients can complete independently and got up time is less than 30 seconds.\n7. Participants cognitive assessment and mental state can cooperate movement.\n8. Never accept oral hormone therapy or stop using hormone therapy more than six months.\n9. Willing to accept and be able to cooperate with more than one muscle biopsies.\n\nExclusion Criteria:\n\n1. The participants are in active virus infection or other pathogen infection, including but not limited to, the TORCH virus, Epstein - Barr virus, the new crown virus, bacteria, fungi, etc.\n2. Having received a live attenuated vaccine or systemic antiviral, anti-infective and\u002For interferon therapy within 3 months prior to the treatment with investigational product.\n3. Serological tests revealed infections of HIV, HBV, HCV and syphilis.\n4. Severe infections (such as pneumonia, pyelonephritis or meningitis) occurred within 8 weeks before the start of treatment with investigational product.\n5. There are clear symptoms of cardiomyopathy, and echocardiography shows that the left ventricular ejection fraction is less than 50%.\n6. Continuous or intermittent assistance support from a ventilator is required.\n7. Laboratory biochemical tests the following indices abnormal: gamma GGTP (gamma glutamyl transpeptidase) 2 times higher than upper limit (GGT), total bilirubin is higher than 1.5 times the upper limit of the elf inhibition C (cystatin C) \\> 1.27 mg\u002FL, hemoglobin (Hgb) \\\u003C 100 g\u002FL or \\> 200 g\u002FL; White blood cell (WBC) \\\u003C4×109\u002FL or \\>18.5×109\u002FL or platelet ≤125×109\u002FL.\n8. The patient has received any type of gene therapy (such as AAV gene therapy), cell therapy (such as stem cell transplantation), in vivo editing or in vitro editing reinfusion gene editing therapy (such as CRISPR-Cas9, TALEN), or other experimental drug treatments in the past.\n9. Participants have any taboos on immunosuppressive therapy.\n10. Other comorbid diseases or conditions that the principal investigators considered unsuitable for participation in clinical trials.\n11. The families of the participants do not wish to publicly disclose the patients' research participation to the attending physician and other medical providers.","FEMALE","6 Years",{"count":483,"type":23},5,[124],"1. Study population:It is applicable to male participants with genetically confirmed and clinically confirmed Duchenne muscular dystrophy (DMD), aged between 6 and 10 years.\n2. Research period:The main research period of this clinical study is one year. Participants were tested during the baseline period and were followed up on days 0, 7, 14, 21, 60, 120, 200, and 360.\n3. Exploratory indicators：MR Of both thighs, quantitatively calculating the muscle fat replacement indicators of the buttocks and proximal thighs；Patient Self-Rating Scale, Caregiver Self-Rating Scale.\n4. Safety assessment：The safety assessment population will include all participants who have received the drug dose and have at least one post-drug safety assessment. Adverse events (AE) collected from the participants signed informed consent, all the way to the main study period at the end of the last follow-up. Safety laboratory evaluation, laboratory safety monitoring, including hematology, blood biochemistry, urine analysis (including troponin I, CK and CK - MB) and blood coagulation function, as well as complement. All common medication will be recorded. All adverse events, including abnormal complete blood cell count results, will be continuously tracked until they are resolved or stabilized. Only treatment-related adverse events (TEAE) will be summarized. AEs will be based on MedDRA and organ systems are recorded and archived. The classification and terminology related to AEs will be described according to the version of CTCAE v6.0.",[29],"2026-03-12",{"date":489,"type":38},"2026-03-16",{"date":491,"type":23},"2026-03-23",{"date":493,"type":23},"2027-04-23",{"name":495,"class":44},"Peking Union Medical College Hospital",{"id":497,"slug":498,"hasResults":12,"nctId":499,"briefTitle":500,"officialTitle":501,"acronym":502,"eligibilityCriteria":503,"healthyVolunteers":12,"sex":18,"minAge":54,"maxAge":55,"enrollmentInfo":504,"targetDuration":4,"studyType":24,"phases":505,"briefSummary":506,"conditions":507,"keywords":508,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":509,"lastUpdatePostDateStruct":510,"startDateStruct":512,"completionDateStruct":514,"leadSponsor":516,"locationsCount":517},"100595854","phase-1-a-study-in-participants-with-duchenne-muscular-dystrophy-amenable-to-exon-44-skipping-to-evaluate-the-safety-and-efficacy-of-entr-601-44-100595854","NCT07037862","A Study in Participants With Duchenne Muscular Dystrophy Amenable to Exon 44 Skipping to Evaluate the Safety and Efficacy of ENTR-601-44","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)","ELEVATE-44","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\u002For 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.",{"count":299,"type":23},[26,59],"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.",[29],[63,64,67,68],"2026-03-06",{"date":511,"type":38},"2026-03-09",{"date":513,"type":38},"2025-06-30",{"date":515,"type":23},"2029-03-28",{"name":78,"class":79},14,{"id":519,"slug":520,"hasResults":12,"nctId":521,"briefTitle":522,"officialTitle":523,"acronym":524,"eligibilityCriteria":525,"healthyVolunteers":12,"sex":88,"minAge":4,"maxAge":4,"enrollmentInfo":526,"targetDuration":528,"studyType":92,"phases":4,"briefSummary":529,"conditions":530,"keywords":531,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":535,"lastUpdatePostDateStruct":536,"startDateStruct":538,"completionDateStruct":540,"leadSponsor":542,"locationsCount":544},"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":527,"type":23},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.",[29,95,199],[229,63,95,203,198,532,533,534],"FAIR Principles","Neuromuscular Diseases","Health Related Quality of Life (HRQoL)","2026-02-06",{"date":537,"type":38},"2026-02-11",{"date":539,"type":23},"2026-04",{"date":541,"type":23},"2041-06",{"name":543,"class":44},"Dr. Andreas Ziegler",2,{"id":546,"slug":547,"hasResults":12,"nctId":548,"briefTitle":549,"officialTitle":550,"acronym":4,"eligibilityCriteria":551,"healthyVolunteers":12,"sex":18,"minAge":481,"maxAge":552,"enrollmentInfo":553,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":554,"conditions":555,"keywords":556,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":559,"lastUpdatePostDateStruct":560,"startDateStruct":562,"completionDateStruct":564,"leadSponsor":566,"locationsCount":4},"100621360","factors-influencing-physical-activity-levels-in-children-with-duchenne-muscular-dystrophy-an-icf-cy-based-study-100621360","NCT07369609","Factors Influencing Physical Activity Levels in Children With Duchenne Muscular Dystrophy: An ICF-CY-Based Study","Investigation of Factors Affecting Physical Activity Level in Children With Duchenne Muscular Dystrophy Based on the International Classification of Functioning, Disability and Health - Child and Youth Version","* Inclusion Criteria (Parents):\n\n  1. Being a parent or primary caregiver of a child diagnosed with Duchenne Muscular Dystrophy (DMD),\n  2. Volunteering to participate in the study.\n* Exclusion Criteria (Parents):\n\n  1. Having caregiving responsibilities for another child or adult with a disability, other than the child with DMD,\n  2. Experiencing difficulties in understanding or responding to the questionnaires administered by the physiotherapist.\n* Inclusion Criteria (Children with DMD):\n\n  1. Having a confirmed diagnosis of Duchenne Muscular Dystrophy (DMD),\n  2. Being between 6 and 14 years of age,\n  3. Being classified within the first four levels of the Brooke Lower Extremity Functional Classification (ambulatory children),\n  4. Scoring \\>24 on the Modified Mini-Mental State Examination,\n  5. Volunteering to participate in the study.\n* Exclusion Criteria (Children with DMD):\n\n  1. Having undergone any musculoskeletal surgery or sustained an injury that could affect physical activity within the past 6 months,\n  2. Experiencing difficulty in understanding the test instructions administered by the physiotherapist and therefore being unable to appropriately perform the tests (performance-based assessments),\n  3. Experiencing difficulties in understanding or responding to the questionnaires administered by the physiotherapist.","14 Years",{"count":5,"type":23},"Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease characterized not only by progressive muscle weakness but also by cognitive, behavioral, and psychosocial impairments. Motor losses that occur during disease progression reduce physical activity levels in children and increase the risk of developing a sedentary lifestyle. Interventions aimed at maintaining or promoting physical activity in children with DMD are important for preventing secondary complications associated with disuse and physical inactivity. To develop effective interventions, there is a need for comprehensive knowledge regarding the factors that influence physical activity levels.\n\nCurrent literature indicates that, in typically developing children, physical activity levels are influenced not only by motor factors but also by cognitive status, sleep, behavioral characteristics, and family-related environmental and psychosocial factors. However, information regarding these multidimensional factors affecting physical activity levels in children with DMD remains limited.\n\nThis study aims to identify the body functions, activity, participation, environmental, and personal factors affecting physical activity levels in children with DMD based on the framework of the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY). Accordingly, the effects of posture, functional capacity, ambulatory status, balance, other musculoskeletal parameters, cognitive status, sleep habits and sleep quality, fear of falling, and behavioral characteristics, as well as family-related factors including parenting style, perceptions of physical activity, stress level, attitudes and perceptions toward daily life events, and disease impact, will be evaluated. The impact of these variables on physical activity levels and the magnitude of this effect will be examined within the ICF-CY framework.",[29],[425,557,558],"physical activity","ICF-CY","2026-01-27",{"date":561,"type":38},"2026-01-29",{"date":563,"type":23},"2026-02-02",{"date":565,"type":23},"2027-09-02",{"name":567,"class":44},"Hacettepe University",{"id":569,"slug":570,"hasResults":12,"nctId":571,"briefTitle":572,"officialTitle":573,"acronym":574,"eligibilityCriteria":575,"healthyVolunteers":12,"sex":18,"minAge":481,"maxAge":576,"enrollmentInfo":577,"targetDuration":4,"studyType":24,"phases":579,"briefSummary":580,"conditions":581,"keywords":582,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":586,"lastUpdatePostDateStruct":587,"startDateStruct":588,"completionDateStruct":590,"leadSponsor":592,"locationsCount":4},"100621267","dmd-and-gamified-physiotherapy-100621267","NCT07368400","DMD and Gamified Physiotherapy","Development and Investigation of the Effectiveness of a Gamified Mobile Physical Therapy Exercise Application for Children With Duchenne Muscular Dystrophy: A 6-Month Follow-Up Single-Blind Randomized Controlled Trial","Gamified DMD","Inclusion Criteria:\n\n* Male child aged 6 to 12 years with a confirmed diagnosis of Duchenne muscular dystrophy (DMD) based on specialist evaluation and genetic testing.\n* Vignos lower extremity classification stage 1 or 2.\n* Brooke upper extremity functional classification at least stage 5.\n* Score of 27 or higher on the Modified Mini-Mental Test.\n* Ability to walk independently for at least 6 minutes.\n* Receiving physiotherapy and rehabilitation for at least 8 sessions over a 1-month period.\n* Having regular access to the internet at home.\n* Parent(s) or legal guardian willing to allow the child to participate and able to read and sign the written informed consent form.\n\nExclusion Criteria:\n\n* Presence of any additional diagnosed neurological disorder other than, or in addition to, Duchenne muscular dystrophy.\n* History of any injury and\u002For surgery within the last 6 months.\n* Any cooperation or behavioral problem that prevents completion of the assessment procedures.\n* Difficulty in understanding or speaking Turkish.","12 Years",{"count":578,"type":23},46,[124],"Duchenne Muscular Dystrophy (DMD) is a progressive neuromuscular disease that limits children's physical function, mobility, and participation in daily life. Regular physiotherapy and exercise are essential to slow functional decline; however, many children experience difficulties maintaining motivation and adherence to long-term exercise programs. Low adherence leads to reduced treatment benefit and faster loss of motor abilities.\n\nThis study aims to investigate whether a gamified mobile physiotherapy exercise program can improve participation, motivation, and physical outcomes in children with DMD. The mobile program includes personalized exercises designed by physiotherapists and occupational therapists, combined with game-based elements such as rewards, levels, feedback, and virtual achievements to enhance engagement. The program is delivered in addition to face-to-face physiotherapy.\n\nA total of 46 boys aged 6-12 years with a confirmed diagnosis of DMD will be recruited and randomly assigned to either an intervention group or a control group. Both groups will attend an 8-week center-based physiotherapy program. The intervention group will additionally use the gamified mobile exercise application at home, while the control group will receive a standard home exercise program. Participants will be evaluated before treatment, after 8 weeks, and at 6-month follow-up.\n\nThe primary outcomes include physical function, endurance, and mobility. Secondary outcomes include psychosocial well-being, motivation, and therapy participation. The study intends to determine whether gamification-based telerehabilitation can increase adherence, preserve physical abilities, and support participation in children with DMD. If effective, this approach may offer a practical and accessible tool to support long-term rehabilitation needs in this population.",[29],[583,584,585],"dmd","exercise","gamification","2026-01-24",{"date":559,"type":38},{"date":589,"type":23},"2026-05-08",{"date":591,"type":23},"2028-07-05",{"name":593,"class":594},"Başak Çağla Arslan","OTHER_GOV",{"id":596,"slug":597,"hasResults":12,"nctId":598,"briefTitle":599,"officialTitle":600,"acronym":601,"eligibilityCriteria":602,"healthyVolunteers":170,"sex":88,"minAge":4,"maxAge":4,"enrollmentInfo":603,"targetDuration":4,"studyType":24,"phases":604,"briefSummary":605,"conditions":606,"keywords":608,"overallStatus":69,"whyStopped":4,"lastUpdateSubmitDate":612,"lastUpdatePostDateStruct":613,"startDateStruct":615,"completionDateStruct":617,"leadSponsor":619,"locationsCount":4},"100620318","self-efficacy-enhancement-using-a-multicomponent-support-group-for-caregivers-of-children-with-dmdsma-100620318","NCT07356063","Self-Efficacy Enhancement Using a Multicomponent Support Group for Caregivers of Children With DMD\u002FSMA","Effect of a Multicomponent Support Group on Self-Efficacy of Primary Caregivers of Children With Spinal Muscular Atrophy or Duchenne Muscular Dystrophy Enrolled in Treat-NMD Registry of Pakistan","SEE-NMD","Inclusion Criteria:\n\n* Primary caregiver of a child diagnosed with SMA or DMD.\n* Enrolled in the Treat-NMD registry- Pakistan.\n* Access to a smart phone with internet connectivity.\n\nExclusion Criteria:\n\n* Caregivers who are currently participating in another support group intervention.\n* Caregivers who are unable to understand the language of communication (Urdu)",{"count":5,"type":23},[124],"The goal of this clinical trial is to learn if providing a multicomponent intervention improves the confidence of caregivers of children with DMD or SMA. The main question it aims to answer is:\n\nDoes this intervention increase their self-efficacy scores over 8 weeks time?\n\nResearchers will compare scores at baseline (pre intervention) and after 8 weeks (post intervention)",[29,607],"Spinal Muscular Atrophy (SMA)",[64,423,609,610,611,203],"Self-Efficacy","Caregivers","Treat-NMD","2026-01-21",{"date":614,"type":38},"2026-01-22",{"date":616,"type":23},"2026-02-23",{"date":618,"type":23},"2026-05-23",{"name":620,"class":44},"Aga Khan University",{"id":622,"slug":623,"hasResults":12,"nctId":624,"briefTitle":625,"officialTitle":626,"acronym":627,"eligibilityCriteria":628,"healthyVolunteers":12,"sex":88,"minAge":629,"maxAge":4,"enrollmentInfo":630,"targetDuration":4,"studyType":24,"phases":632,"briefSummary":633,"conditions":634,"keywords":635,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":640,"lastUpdatePostDateStruct":641,"startDateStruct":643,"completionDateStruct":645,"leadSponsor":647,"locationsCount":45},"100614974","active-nbs-study-decentralised-monitoring-motor-development-in-children-with-duchenne-muscular-dystrophy-or-spinal-muscular-atrophy-identified-by-newborn-screening-100614974","NCT07286565","Active NBS Study: Decentralised Monitoring Motor Development in Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified by Newborn Screening","Active-NBS Liege - Monitoring the Motor Development of Children With Duchenne Muscular Dystrophy or Spinal Muscular Atrophy Identified Through Newborn Screening","Active-NBS BE","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 \\\u003C 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\u002For motor development.\n* Participation in a therapeutic trial.\n* Lack of internet connection.","4 Months",{"count":631,"type":23},100,[124],"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.",[607,29],[636,637,638,639],"Remotely monitor","Syde","Accelerometry","Daily living","2025-12-12",{"date":642,"type":38},"2025-12-16",{"date":644,"type":38},"2025-12-01",{"date":646,"type":23},"2028-08",{"name":139,"class":44},{"id":649,"slug":650,"hasResults":12,"nctId":651,"briefTitle":652,"officialTitle":653,"acronym":4,"eligibilityCriteria":654,"healthyVolunteers":12,"sex":88,"minAge":655,"maxAge":656,"enrollmentInfo":657,"targetDuration":4,"studyType":24,"phases":658,"briefSummary":659,"conditions":660,"keywords":663,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":664,"lastUpdatePostDateStruct":665,"startDateStruct":667,"completionDateStruct":669,"leadSponsor":671,"locationsCount":45},"100602933","fear-of-falling-in-muscular-dystrophy-100602933","NCT07129954","Fear of Falling in Muscular Dystrophy","Fear of Falling in Muscular Dystrophy: Investigation of the Phenomenon and a Multidisciplinary Rehabilitation Approach to Treat it","Inclusion Criteria:\n\n* Diagnosis of muscular dystrophy: myotonic, facio-scapular-humeral, Becker, cingulate, Emery-Dreifuss, and distal;\n* 16 to 65 years of age;\n* Patients with residual walking capacity: functional ambulation category (FAC) at least equal to 1\n* MMSE corrected for age and education of 23,8 points.\n\nSpecific Work Package 2 (WP2) inclusion criterion:\n\n\\- the persistence of Fear Of Falling at 3 months, identified as a score of at least 16 points at the Falls efficacy scale - International (FES-I);\n\nExclusion Criteria:\n\n* The presence of factors that may lead to the assumption that it is a priori impossible to ensure adequate adherence to the proposed treatment;\n* Concurrent management in other rehabilitation centers or participation in other research projects\n* Language barrier;\n* Failure to sign informed consent.","16 Years","65 Years",{"count":631,"type":23},[124],"Primary objectives\n\nWP1: Evaluate the prevalence of FOF in the study population and how this varies over time. Evaluate whether there are relationships between the variables investigated (clinical, motor, cognitive, psychological) and the presence of FOF.\n\nWP2: To evaluate, among those who presented disabling FOF, the effects of two different therapeutic approaches: motor rehabilitation vs. motor rehabilitation plus cognitive-behavioral psychotherapy.\n\nSecondary objectives\n\nWP1: To evaluate whether different profiles defined by specific clinical, motor, cognitive, psychological, and personological characteristics can be characterized among patients with dystrophy and FOF and how these impact functionality, activity, participation, and quality of life.\n\nWP2: Evaluate the effects of cognitive-behavioral therapy (CBT) and a motor treatment on cognitive and psychological aspects, the frequency of falls, and the functional validity.",[661,29,229,662],"Fear of Falling","Rehabilitation",[661,203,662],"2025-08-11",{"date":666,"type":38},"2025-08-19",{"date":668,"type":38},"2025-07-02",{"date":670,"type":23},"2027-08-01",{"name":672,"class":44},"Universita di Verona",{"id":674,"slug":675,"hasResults":12,"nctId":676,"briefTitle":677,"officialTitle":678,"acronym":4,"eligibilityCriteria":679,"healthyVolunteers":12,"sex":18,"minAge":396,"maxAge":4,"enrollmentInfo":680,"targetDuration":4,"studyType":92,"phases":4,"briefSummary":682,"conditions":683,"keywords":684,"overallStatus":34,"whyStopped":4,"lastUpdateSubmitDate":686,"lastUpdatePostDateStruct":687,"startDateStruct":689,"completionDateStruct":691,"leadSponsor":692,"locationsCount":45},"100587198","dmd-voice-qualitative-interviews-with-patients-and-caregivers-100587198","NCT06925269","DMD Voice: Qualitative Interviews With Patients and Caregivers","Duchenne Muscular Dystrophy Quality of Life: Qualitative Interviews With Patients and Caregivers","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\u002For 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\u002For 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\u002For audio recorded interview Have access to a stable internet connection\n\nExclusion Criteria:\n\n\\-",{"count":681,"type":23},68,"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\u002For and their caregivers.\n\nThis is a qualitative interview study in which individuals with DMD and\u002For 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.",[29],[201,685],"givinostat","2025-04-29",{"date":688,"type":38},"2025-04-30",{"date":690,"type":38},"2025-03-31",{"date":336,"type":23},{"name":693,"class":79},"Red Nucleus Enterprise Solutions, LLC"]