[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"spinal-muscular-atrophy-sma\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:spinal-muscular-atrophy-sma":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,19,0,[8,43,76,107,134,161,189,236,260,279,312,336,364,385,413,434,459,490,511],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100642354","vrehab-sma-phase-12-100642354",false,"NCT07578454","VRehab-SMA Phase 1.2","Virtual Targeted Rehabilitation for Patients With Spinal Muscular Atrophy: Phase 1.2: Proof-of-concept","Cohort 1 Inclusion Criteria:\n\n* Person with SMA\n\n  * A person living with genetically confirmed SMA aged from 12-18 years\n  * A good understanding of English or someone who can provide a good understanding of English for me to complete the survey\n  * A young person living with SMA from 12-15 years of age and who's caregiver\u002Flegal guardian gives consent\n  * A young person living with SMA from 16-18 years of age who provide their own consent\n\nCaregiver\u002F Legal Guardian\n\n* A caregiver (legal guardian) of child\u002Fyoung person living with SMA aged from 6-18 years old\n* A good understanding of English or someone who can provide a good understanding of English for me to complete the survey\n\nExclusion Criteria: No exclusion criteria for Cohort 1, other than meeting the inclusion criteria\n\nCohort 2 Inclusion Criteria:\n\nParticipant with SMA aged 6-10 years\n\n* Genetically confirmed SMA\n* A comprehensive understanding of English\n* Treated with any disease-modifying therapy post-symptomatically\n* Number of SMN2 copies available\n* Functional status available\n* Age: Participants between 6-10 years at Visit 1 (inclusion)\n* Parent(s)\u002Flegal guardian(s)\u002Fcaregiver(s) able to provide written informed consent and child able to provide assent prior to participation in the study\n\nParticipant with SMA aged 11-15 years\n\n* Genetically confirmed SMA\n* A comprehensive understanding of English\n* Treated with any disease-modifying therapy post-symptomatically\n* Number of SMN2 copies available\n* Functional status available\n* Age: Participants between 11-15 years at Visit 1 (inclusion)\n* Parent(s)\u002Flegal guardian(s)\u002Fcaregiver(s) able to provide written informed consent and child able to provide assent prior to participation in the study\n\nParticipant with SMA aged 16-18 years\n\n* Genetically confirmed SMA\n* A comprehensive understanding of English\n* Treated with any disease-modifying therapy post-symptomatically\n* Number of SMN2 copies available\n* Functional status available\n* Age: Participants between 16-18 years at Visit 1 (inclusion)\n* Able to provide written informed consent\n\nExclusion Criteria:\n\nAny acute or chronic condition which, according to the investigator, significantly interferes with the use of the device (example: Upper limbs injuries interfering with technology, skin conditions preventing the use of electrodes, etc)","ALL","6 Years","18 Years",{"count":20,"type":21},12,"ESTIMATED","INTERVENTIONAL",[24],"NA","Spinal muscular atrophy is a genetic disorder characterized by progressive muscle weakness, severely impacting patients' motor abilities. Several disease modifying therapies have been developed to treat Spinal muscular atrophy which have led to new disease trajectories . According to standard of care guidelines, exercise programs should be designed and monitored by a physical therapist and should include exercises to improve daily life activities. Exercises should be adapted to each patient and can be prescribed with an optimal frequency in various ways. However, of patients with Spinal muscular atrophy, only 20% reported access to endurance exercises and only 6% to mixed exercises. This incompliance to standard of care guidelines is due to manpower limitation and difficulties in engaging with young and sometimes highly disabled children. Our group has been pioneering in developing the UK at-home individualised rehabilitation program. To address this challenge, the Investigators propose the development of an innovative, virtual targeted rehabilitation platform specifically designed for young patients with Spinal muscular atrophy. This technology aims to provide a patient-centric, at-home rehabilitation solution, enabling parents\u002Fcaregivers to facilitate daily exercises in a more accessible and enjoyable manner. This technology would constitute the first of its kind in Spinal muscular atrophy field, involving the integration of augmented electromyography signals and soft robotic haptic devices into a gamified virtual reality environment. By increasing the frequency and quality of exercise interventions at home, this technology has the potential to significantly address the critical unmet need for consistent rehabilitation. This technology will also serve as a clinical outcome measure for continuous home-based assessments of weaker and less functional population in place of hospital-based assessments.",[27],"Spinal Muscular Atrophy (SMA)",[29],"Spinal Muscular Atrophy","RECRUITING","2026-06-09",{"date":33,"type":34},"2026-06-11","ACTUAL",{"date":36,"type":34},"2026-05-27",{"date":38,"type":21},"2027-04",{"name":40,"class":41},"University of Oxford","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":48,"acronym":49,"eligibilityCriteria":50,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":53,"targetDuration":4,"studyType":22,"phases":55,"briefSummary":57,"conditions":58,"keywords":59,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":68,"completionDateStruct":70,"leadSponsor":72,"locationsCount":75},"100615082","phase-2-a-study-to-assess-the-safety-tolerability-efficacy-pharmacokinetics-and-immunogenicity-of-intravenous-administration-of-argx-119-in-pediatric-participants-aged-5-to-less-than-18-years-with-spinal-muscular-atrophy-100615082","NCT07287982","A Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of Intravenous Administration of ARGX-119 in Pediatric Participants Aged 5 to Less Than 18 Years With Spinal Muscular Atrophy","A Phase 2 Double-Blinded, Randomized, Placebo-Controlled Study to Assess the Safety, Tolerability, Efficacy, Pharmacokinetics, and Immunogenicity of Intravenous Administration of ARGX-119 in Pediatric Participants Aged 5 to Less Than 18 Years With Spinal Muscular Atrophy","Sparkle","Inclusion Criteria:\n\n* Is aged ≥5 to \\\u003C18 years when completing the informed consent process, defined as providing informed assent according to local regulations and having a parent or guardian sign the ICF, and can comply with protocol\n* requirements.\n* Has documented historical genetic diagnosis of 5q-SMA.\n* Currently receiving a stable SMA treatment regimen (nusinersen or risdiplam) and\u002For have a history of onasemnogene abeparvovec treatment\n* Must be able to walk at least 50 meters without walking aids in the 6MWT at screening\n\nExclusion Criteria:\n\n* Known medical condition that would interfere with an accurate assessment of SMA, confound the results of the study, or put the participant at undue risk, as assessed by the investigator\n* Recent major surgery, except spinal fusion, within 3 months of screening or intends to have major surgery during the study\n* Current or previous administration of antimyostatin therapies in the past 6 months\n* Severe scoliosis (defined as curvature \\>40°) and\u002For contractures at screening. o History of spinal fusion within 6 months before screening or planned during the study\n* Respiratory insufficiency, defined by the medical necessity for invasive or noninvasive ventilation for daytime treatment while awake. Ventilation used overnight or during daytime naps is acceptable.","5 Years","17 Years",{"count":54,"type":21},60,[56],"PHASE2","This study aims to find the correct dose of ARGX-119 for children with SMA. The study will also look at how safe the study drug is, how well it works, how it moves through the body, and how the immune system responds to it. The study consists of a double-blinded treatment period (DBTP) where participants will either receive ARGX-119 IV or placebo IV, in addition to disease-modifying therapy (DMT) for 24 weeks. Participants who complete the DBTP will enter the open-label active-treatment extension period (ATEP) during which all participants will receive ARGX-119 IV up to 100 weeks (approximately 2 years).",[27],[29,60,61,62,63,64],"Pediatric","Muscle Function","Fatigability","SMA","ambulant","2026-05-20",{"date":67,"type":34},"2026-05-22",{"date":69,"type":34},"2025-12-19",{"date":71,"type":21},"2029-05-28",{"name":73,"class":74},"argenx","INDUSTRY",17,{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":80,"acronym":81,"eligibilityCriteria":82,"healthyVolunteers":83,"sex":16,"minAge":18,"maxAge":84,"enrollmentInfo":85,"targetDuration":4,"studyType":22,"phases":87,"briefSummary":88,"conditions":89,"keywords":93,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":98,"lastUpdatePostDateStruct":99,"startDateStruct":101,"completionDateStruct":103,"leadSponsor":105,"locationsCount":42},"100617696","assessment-of-a-portable-digital-device-for-quantified-analysis-of-markerless-walking-in-volunteers-with-neuromuscular-diseases-or-asymptomatic-volunteers-100617696","NCT07321977","Assessment of a Portable Digital Device for Quantified Analysis of Markerless Walking in Volunteers With Neuromuscular Diseases or Asymptomatic Volunteers","Myokinesis","* All volunteers\n\n  * Age between 18 and 65\n  * Ambulatory\n  * Informed consent to participate in the study\n  * Member of or beneficiary of a social security system\n* Volunteers with a neuromuscular disease\n\n  * Confirmed diagnosis of a neuromuscular disease of genetic origin (medical document to be provided upon enrollment in the study with proof of diagnosis) belonging to the list above.\n  * Ability to walk for 2 minutes without assistance.\n  * Ability to stand up from a chair with armrests at least 3 times in 30 seconds.\n  * Ability to climb an inclined plane independently or with assistance to access the movement analysis room.\n\nExclusion Criteria\n\n* All volunteers\n\n  * Individuals under guardianship, curatorship, or legal protection\n  * Pregnant or breastfeeding women\n  * Non-ambulatory individuals\n  * Individuals with epilepsy\n  * Skin conditions preventing the placement of VICON motion sensors\n* Asymptomatic volunteers\n\n  * Unstable respiratory or cardiac problems\n  * Neurological, musculoskeletal, or psychiatric problems\n* Volunteers with a neuromuscular disease\n\n  * Recent trauma or serious falls (≤ 6 months)\n  * Individuals who have fallen more than twice in the past year and at least once in the past three months\n  * Use of assistive devices such as rigid knee braces or walkers\n  * Unstable cardiomyopathy\n  * Individuals awaiting diagnosis\n\nExclusion criteria\n\n* Inability to comply with the protocol requirements\n* Medical or social conditions that could interfere with the study, as determined by the coordinating investigator or co-investigators.",true,"65 Years",{"count":86,"type":21},30,[24],"In recent years, knowledge of neuromuscular diseases has advanced considerably, and new therapeutic avenues are beginning to emerge. The proliferation of clinical trials has created a need to identify biomarkers that are both sensitive to changes and specific to the disease. Current gait tests only consider the time factor and not the evolution of the patient's biomechanics, which may prove insufficient for patients whose symptoms generally progress slowly. Quantifying gait parameters in neuromuscular patients therefore appears necessary. This is why we propose to study markerless gait analysis in this population, which would allow for simple and effective monitoring of kinematic parameters without resorting to complex equipment incompatible with routine clinical practice.",[27,90,91,92],"Charcot-Marie-Tooth","Muscular Dystrophy","Myotonic Dystrophy",[94,95,96,97],"gait analysis","neuromuscular","disease","markerless","2026-05-18",{"date":100,"type":34},"2026-05-19",{"date":102,"type":34},"2026-03-03",{"date":104,"type":21},"2027-01-06",{"name":106,"class":41},"Institut de Myologie, France",{"id":108,"slug":109,"hasResults":11,"nctId":110,"briefTitle":111,"officialTitle":112,"acronym":113,"eligibilityCriteria":114,"healthyVolunteers":83,"sex":16,"minAge":4,"maxAge":115,"enrollmentInfo":116,"targetDuration":4,"studyType":118,"phases":4,"briefSummary":119,"conditions":120,"keywords":121,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":42},"100634693","an-international-federated-model-for-wearable-derived-remote-longitudinal-motor-monitoring-in-young-children-with-spinal-muscular-atrophy-compared-with-healthy-controls-active-nbs-study-uk-100634693","NCT07543003","An International Federated Model for Wearable-derived Remote Longitudinal Motor Monitoring in Young Children With Spinal Muscular Atrophy Compared With Healthy Controls: Active-NBS Study (UK)","A Prospective, Longitudinal and Decentralised Study Investigating the Motor Development of Patients With Spinal Muscular Atrophy Identified by Newborn Screening Age 4 Years and Below: Active-NBS UK.","Active-NBS UK","Inclusion criteria (Test cohort):\n\n1. Genetically confirmed SMA and number of SMN2 copies available\n2. a. Patients identified by NBS and treated with disease modifying therapy (DMT)\n\n(2)a,i 4 copies or more of SMN2 and not treated with DMT\n\n(2)a,ii less than 4 copies of SMN2 and not treated with DMT\n\nor\n\n(2)b. Patients diagnosed due to a sibling or alternative means\n\n(2)b,i 4 copies or more of SMN2 and not treated with DMT\n\n(2)b,ii less than 4 copies of SMN2 and not treated with DMT\n\n(3)Patients between 4 months and below 4 years at baseline. Inclusion of patients can be before 4 months of age\n\n(4)Parent(s)\u002Flegal guardian(s) able to provide written informed consent prior to the patient's participation in the study\n\n(5)Male or female\n\nExclusion Criteria (Test cohort):\n\n1. Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and\u002For the motor evolution\n2. Currently enrolled in an experimental treatment study\n\nInclusion criteria (Control):\n\n1. Typically developing child\n2. Participant between 6 months and 4 years at inclusion\n3. Parent(s)\u002Flegal guardian(s) able to provide written informed consent prior to the participation in the study\n4. Male or female\n\nExclusion criteria (Control):\n\n(1)Any acute or chronic condition which, according to the investigator, significantly interferes with the assessments and\u002For the motor evolution","4 Years",{"count":117,"type":21},90,"OBSERVATIONAL","Active-NBS is a study to evaluate the muscle development of patients with spinal muscular atrophy (SMA) who are diagnosed at birth.\n\nMedicines have become available in the last decade, and many patients are treated very early. Treatments are most effective if used before the patient develops symptoms. However, some patients may show symptoms by the time they receive treatment. This means that even with early diagnosis, they might still develop muscle weakness despite treatment. The investigators want to see when the movements of patients diagnosed at birth differ from normal development. This information will help identify the best time to give additional medicines currently being developed to support the muscle.\n\nThe investigators will track the progress of up to 60 patients over a maximum of 30 months using wearable technologies which are worn at home. The investigators aim to validate their outcomes for use in this age group. The wearable devices are called Syde and Motor Assessment of an Infant in a Jumpsuit (MAIJU).\n\nThey will be worn at regular intervals during the study and will not involve extra hospital visits for patients. The study will also recruit up to 30 healthy control participants and follow them for up to 30 months. This will help define normal development with use of the Syde device.\n\nActive-NBS will be conducted in the UK and internationally using a federated data model. Collaborative sites will collect harmonised data in accordance with the Active-NBS protocol, with data integration and oversight managed by the University of Oxford. International sites may contact the Oxford study team to establish collaboration.",[27],[122,123,124,125],"Spinal muscular atrophy","Newborn screening","Motricity","Development","2026-05-06",{"date":128,"type":34},"2026-05-11",{"date":130,"type":34},"2026-05-01",{"date":132,"type":21},"2029-07",{"name":40,"class":41},{"id":135,"slug":136,"hasResults":11,"nctId":137,"briefTitle":138,"officialTitle":139,"acronym":4,"eligibilityCriteria":140,"healthyVolunteers":11,"sex":16,"minAge":51,"maxAge":52,"enrollmentInfo":141,"targetDuration":4,"studyType":22,"phases":143,"briefSummary":144,"conditions":145,"keywords":146,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":152,"lastUpdatePostDateStruct":153,"startDateStruct":155,"completionDateStruct":157,"leadSponsor":159,"locationsCount":42},"100630489","habit-ile--fst-in-children-with-sma-preliminary-effectiveness-100630489","NCT07488338","HABIT-ILE + FST in Children With SMA: Preliminary Effectiveness","Feasibility and Preliminary Effectiveness of HABIT-ILE + Functional Strength Training in Children With Spinal Muscular Atrophy (SMA): a Prospective Single-group Intervention Trial.","Inclusion Criteria:\n\n* Have a confirmed SMA diagnosis\n* Be 5-17 years old\n* Complete all pre- and post-intervention assessments\n* Understand and speak English\n* Follow instructions without major cognitive or behavioral issues\n* Have received a stable disease-modifying therapy (DMT) dose for ≥6 months\n* Be classified as a sitter or walker (SMA type 2 or 3) with supported standing ability (score ≥1 on Item 18 of the HFMSE) without KAFOs, AFOs, or external standing devices\n\nExclusion Criteria:\n\n* Orthopedic surgery within the past year\n* New pharmaceutical treatment during the study\n* Concurrent participation in another clinical trial",{"count":142,"type":21},20,[24],"This single-arm pilot study will assess the preliminary effectiveness of an intensive motor skill intervention (HABIT-ILE) combined with functional strength training (FST) in children with SMA who are receiving disease-modifying therapies. Participants will attend a HABIT-ILE + FST summer camp for 6 hours per day over a 3-week period, totaling 90 hours of training.",[27],[147,148,60,149,150,151],"HABIT-ILE","Functional Strenght Training","Rehabilitation","Motor control","Intensive","2026-03-18",{"date":154,"type":34},"2026-03-23",{"date":156,"type":21},"2026-03-15",{"date":158,"type":21},"2028-12-31",{"name":160,"class":41},"Teachers College, Columbia University",{"id":162,"slug":163,"hasResults":11,"nctId":164,"briefTitle":165,"officialTitle":166,"acronym":167,"eligibilityCriteria":168,"healthyVolunteers":83,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":169,"targetDuration":4,"studyType":22,"phases":170,"briefSummary":171,"conditions":172,"keywords":174,"overallStatus":179,"whyStopped":4,"lastUpdateSubmitDate":180,"lastUpdatePostDateStruct":181,"startDateStruct":183,"completionDateStruct":185,"leadSponsor":187,"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":86,"type":21},[24],"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)",[173,27],"Duchenne Muscular Dystrophy (DMD)",[175,63,176,177,178,91],"DMD","Self-Efficacy","Caregivers","Treat-NMD","NOT_YET_RECRUITING","2026-01-21",{"date":182,"type":34},"2026-01-22",{"date":184,"type":21},"2026-02-23",{"date":186,"type":21},"2026-05-23",{"name":188,"class":41},"Aga Khan University",{"id":190,"slug":191,"hasResults":11,"nctId":192,"briefTitle":193,"officialTitle":194,"acronym":195,"eligibilityCriteria":196,"healthyVolunteers":11,"sex":16,"minAge":197,"maxAge":198,"enrollmentInfo":199,"targetDuration":4,"studyType":22,"phases":201,"briefSummary":203,"conditions":204,"keywords":205,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":226,"lastUpdatePostDateStruct":227,"startDateStruct":229,"completionDateStruct":231,"leadSponsor":233,"locationsCount":235},"100465067","phase-3-long-term-follow-up-of-patients-with-spinal-muscular-atrophy-treated-with-oav101-in-clinical-trials-100465067","NCT05335876","Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 in Clinical Trials","Long-term Follow-up of Patients With Spinal Muscular Atrophy Treated With OAV101 IT or OAV101 IV in Clinical Trials","SPECTRUM","Inclusion Criteria:\n\n1. Participated in an OAV101 clinical trial.\n2. Written informed consent must be obtained before any assessment is performed.\n3. Patient\u002FParent\u002Flegal guardian willing and able to comply with study procedures.\n\nExclusion Criteria:\n\nThere are no exclusion criteria for this study.","0 Years","100 Years",{"count":200,"type":21},175,[202],"PHASE3","This is a global, prospective, multi-center study that is designed to assess the long-term safety and efficacy of OAV101 in patients who participated in an OAV101 clinical trial. The assessments of safety and efficacy in Study COAV101A12308 will continue for 5 years after enrollment in this study.",[27],[206,207,208,209,210,211,212,213,214,215,216,217,218,219,27,220,221,222,223,224,225],"Zolgensma","OAV101","AVXS 101","gene therapy","Muscle atrophy","SBMA","spinal and bulbar muscular atrophy","spinal muscular atrophy","bulbar muscular atrophy","muscle function","myopathy","muscle wasting","atrophied muscle","loss of muscle strength","survival motor neuron 1 gene (SMN1)","SMN protein depletion","survival motor neuron 2 gene (SMN2)","chromosome 5q13","neurogenetic disorder","onasemnogene abeparvovec","2026-01-16",{"date":228,"type":34},"2026-01-20",{"date":230,"type":34},"2022-12-19",{"date":232,"type":21},"2031-02-27",{"name":234,"class":74},"Novartis Pharmaceuticals",32,{"id":237,"slug":238,"hasResults":11,"nctId":239,"briefTitle":240,"officialTitle":241,"acronym":4,"eligibilityCriteria":242,"healthyVolunteers":83,"sex":16,"minAge":18,"maxAge":243,"enrollmentInfo":244,"targetDuration":4,"studyType":118,"phases":4,"briefSummary":246,"conditions":247,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":251,"lastUpdatePostDateStruct":252,"startDateStruct":253,"completionDateStruct":255,"leadSponsor":257,"locationsCount":259},"100567332","observational-study-to-observe-variations-of-gait-parameters-in-patients-with-neuromuscular-diseases-100567332","NCT06666816","Observational Study to Observe Variations of Gait Parameters in Patients With Neuromuscular Diseases","Observational Study for the Identification of Fatigue and Gait Biomarkers in Populations With Neuromuscular Pathologies in the Clinical Context and Daily Life","Inclusion Criteria:\n\n* Ambulant adult patients with genetic diagnosis of muscular dystrophy\u002Fmyopathy (dystrophinopathies, muscular dystrophies and congenital and non-congenital myopathies), of spinal muscular atrophy (SMA) and with molecular diagnosis of Charcot-Marie Tooth 1 or 2.\n* independent walking, even with assistance;\n\nExclusion Criteria:\n\n* Dilated or ischemic heart disease with moderate impairment;\n* Chronic respiratory failure: forced vital capacity (FVC) \\\u003C 40%; more than 5% of nocturnal time spent with peripheral oxygen saturation levels \\\u003C 90.","75 Years",{"count":245,"type":21},120,"This study has the general objective of observing walking parameters during a clinical test to objectively estimate fatigue in patients with neuromuscular diseases. Furthermore, the investigators want to evaluate the feasibility of collecting physical activity in daily life conditions during a one-week monitoring period using a wearable sensor.",[248,249,27,250],"Muscular Dystrophies","Myopathies","Charcot Marie Tooth Disease","2026-01-15",{"date":228,"type":34},{"date":254,"type":34},"2017-10-27",{"date":256,"type":21},"2026-12",{"name":258,"class":41},"IRCCS Eugenio Medea",2,{"id":261,"slug":262,"hasResults":11,"nctId":263,"briefTitle":264,"officialTitle":265,"acronym":63,"eligibilityCriteria":266,"healthyVolunteers":11,"sex":16,"minAge":18,"maxAge":4,"enrollmentInfo":267,"targetDuration":4,"studyType":118,"phases":4,"briefSummary":269,"conditions":270,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":271,"lastUpdatePostDateStruct":272,"startDateStruct":273,"completionDateStruct":275,"leadSponsor":277,"locationsCount":42},"100610123","diagnostic-journey-patient-experience-and-disparities-in-the-treatment-of-spinal-muscular-atrophy-sma-in-the-medstar-health-system-100610123","NCT07223489","Diagnostic Journey, Patient Experience, and Disparities in the Treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System","Understanding the Diagnostic Pathway and Treatment Experience of Patients With Spinal Muscular Atrophy (SMA)","Inclusion Criteria:\n\n* SMA diagnosis, age greater than or equal to 18 years\n\nExclusion Criteria:\n\n* Deceased",{"count":268,"type":21},200,"Evaluate the diagnostic journey, patient experience, and disparities in the treatment of Spinal Muscular Atrophy (SMA) in the MedStar Health System.",[27],"2026-01-14",{"date":226,"type":34},{"date":274,"type":34},"2025-10-10",{"date":276,"type":21},"2026-12-30",{"name":278,"class":41},"Medstar Health Research Institute",{"id":280,"slug":281,"hasResults":11,"nctId":282,"briefTitle":283,"officialTitle":284,"acronym":285,"eligibilityCriteria":286,"healthyVolunteers":11,"sex":16,"minAge":287,"maxAge":288,"enrollmentInfo":289,"targetDuration":4,"studyType":22,"phases":290,"briefSummary":291,"conditions":292,"keywords":293,"overallStatus":179,"whyStopped":4,"lastUpdateSubmitDate":302,"lastUpdatePostDateStruct":303,"startDateStruct":305,"completionDateStruct":307,"leadSponsor":309,"locationsCount":311},"100618821","neuroproprioceptive-equine-assisted-physiotherapy-for-spinal-muscular-atrophy-100618821","NCT07336602","Neuroproprioceptive Equine-Assisted Physiotherapy for Spinal Muscular Atrophy","Immediate and Sustained Effects of Intensive Neuroproprioceptive Equine-Assisted Physiotherapy in Children With Spinal Muscular Atrophy: A Randomized Crossover Trial","NEUROEQUIP","Inclusion Criteria:\n\n* Age between 2 and 9 years\n* Clinical diagnosis of spinal muscular atrophy (SMA) type I, II, or III\n* Stable health condition for at least 6 months prior to enrollment\n* Ability to participate in the study procedures\n* Written informed consent provided by a parent or legal guardian\n\nExclusion Criteria:\n\n* Hip dislocation\n* Known allergy to horses or the stable environment\n* Severe fear of horses that would prevent participation in equine-assisted physiotherapy\n\nAny other medical condition that, in the investigator's opinion, would interfere with safe participation in the study","2 Years","9 Years",{"count":142,"type":21},[24],"This study investigates whether Equine-Assisted Physiotherapy based on Neuro-proprioceptive \"Facilitation and Inhibition\" (NEUROEQUIP-SMA) can improve movement, posture, breathing, and quality of life in children with spinal muscular atrophy (SMA). This therapy uses the horse's rhythmic movement together with targeted sensory and manual stimulation to trigger natural motor reactions starting from the pelvis, lower the threshold for muscle activation, and support coordinated motor patterns. The study compares this method with standard individual physiotherapy based on the same neuro-proprioceptive facilitation and inhibition principles, but performed without the horse. Twenty children aged 2 to 9 years will receive both therapies in two separate 6-day blocks, in random order (crossover design). The researchers will assess muscle fatigue, coordination, breathing function, movement quality and quantity, quality of life, and changes in selected blood biomarkers. The results may help develop better rehabilitation strategies for children with SMA who are receiving modern pharmacological or gene therapy.",[27],[294,295,296,297,298,299,300,301],"Muscular atrophy, Spinal","Genetic Therapy","Equine-Assisted Therapy","Child","Pediatrics","Physical Therapy Modalities","RNA, Long Noncoding","Neuro-proprioceptive Principles","2025-12-30",{"date":304,"type":34},"2026-01-13",{"date":306,"type":21},"2026-04-15",{"date":308,"type":21},"2026-06-30",{"name":310,"class":41},"Charles University, Czech Republic",4,{"id":313,"slug":314,"hasResults":11,"nctId":315,"briefTitle":316,"officialTitle":317,"acronym":318,"eligibilityCriteria":319,"healthyVolunteers":11,"sex":16,"minAge":18,"maxAge":4,"enrollmentInfo":320,"targetDuration":4,"studyType":22,"phases":322,"briefSummary":323,"conditions":324,"keywords":325,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":327,"lastUpdatePostDateStruct":328,"startDateStruct":330,"completionDateStruct":332,"leadSponsor":334,"locationsCount":42},"100618521","long-read-analysis-in-spinal-muscular-atrophy---loreasi-100618521","NCT07332702","Long Read Analysis in Spinal Muscular Atrophy - LOREASI","Detection of Cis Duplications of the SMN1 Gene Using Long-read Analysis to Address a Major Issue in Genetic Counseling for Spinal Muscular Atrophy","LOREASI","Inclusion Criteria\n\n• Adult Subject:\n\n* Subject with either:\n\n  * 1 or 3 copies of the SMN1 gene (control group) and a variable number of copies of the SMN2 gene\n  * 2 copies of the SMN1 gene in cis (2+0 genotype) (test group)\n* Affiliation to French health insurance\n* Signed consent form\n\nExclusion Criteria\n\n* Pregnant or breastfeeding women\n* Individuals deprived of liberty by an administrative or judicial decision, or those under guardianship or curatorship",{"count":321,"type":21},27,[24],"Spinal Muscular Atrophy (SMA) is a severe neuromuscular disease caused by deletion of the SMN1 gene, with the most severe form leading to death in children without treatment. Genetic counselling to detect couples where both partners are carriers is particularly important. In some countries, preconception screening is offered. However, some carriers escape detection due to the existence of two copies of the SMN1 gene side-by-side (2+0 genotype). Currently, no molecular genetic methods used for diagnostic purposes can detect these 2+0 genotypes, which pose a significant challenge in genetic counselling.\n\nThis study aims to use new technologies based on the analysis of ultra-long molecules to detect side-by-side duplications of the SMN1 gene to detect heterozygous subjects not identified by current techniques and improve genetic counselling.",[27],[326],"SMA, SMN1, long read, cis duplication, genetic counselling","2025-12-29",{"date":329,"type":34},"2026-01-12",{"date":331,"type":34},"2025-05-15",{"date":333,"type":21},"2027-01-15",{"name":335,"class":41},"University Hospital, Rouen",{"id":337,"slug":338,"hasResults":11,"nctId":339,"briefTitle":340,"officialTitle":341,"acronym":342,"eligibilityCriteria":343,"healthyVolunteers":11,"sex":16,"minAge":344,"maxAge":4,"enrollmentInfo":345,"targetDuration":4,"studyType":22,"phases":347,"briefSummary":348,"conditions":349,"keywords":350,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":355,"lastUpdatePostDateStruct":356,"startDateStruct":358,"completionDateStruct":360,"leadSponsor":362,"locationsCount":42},"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":346,"type":21},100,[24],"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.",[27,173],[351,352,353,354],"Remotely monitor","Syde","Accelerometry","Daily living","2025-12-12",{"date":357,"type":34},"2025-12-16",{"date":359,"type":34},"2025-12-01",{"date":361,"type":21},"2028-08",{"name":363,"class":41},"Centre Hospitalier Universitaire de Liege",{"id":365,"slug":366,"hasResults":11,"nctId":367,"briefTitle":368,"officialTitle":368,"acronym":4,"eligibilityCriteria":369,"healthyVolunteers":11,"sex":16,"minAge":370,"maxAge":4,"enrollmentInfo":371,"targetDuration":4,"studyType":22,"phases":373,"briefSummary":374,"conditions":375,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":376,"lastUpdatePostDateStruct":377,"startDateStruct":379,"completionDateStruct":381,"leadSponsor":383,"locationsCount":42},"100613334","phase-3-real-world-clinical-effectiveness--safety-of-vesemnogene-lantuparvovec-for-spinal-muscular-atrophy-sma-in-low-middle-income-countries-lmic-100613334","NCT07265232","Real World Clinical Effectiveness & Safety of Vesemnogene Lantuparvovec for Spinal Muscular Atrophy (SMA) in Low-middle Income Countries (LMIC).","Inclusion Criteria:\n\n1. Willing and able to give written informed consent for participation in the study.\n2. Genetic confirmation of SMA (biallelic deletion or mutation of SMN1).\n3. SMA clinical phenotype and condition, that in the opinion of the treating physician, treatment with Vesemnogene will likely be beneficial.\n4. Absence of contraindications for spinal tap procedure or administration of intrathecal therapy.\n5. Total AAV antibody titres \\\u003C 1:20 as determined by ELISA assay.\n6. Normal liver function (AST\u002FALT \\\u003C 3XULN, Bilirubin \\\u003C3.0 mg\u002FdL).\n7. Unable to access or failure to respond to currently available curative treatments for SMA.\n\nExclusion Criteria:\n\nNone","6 Months",{"count":372,"type":21},15,[202],"The study objective is to determine the real-world safety and effectiveness of Vesemnogene lantuparvovec for the treatment of SMA.\n\nThe specific objectives are:\n\n* To determine clinical effectiveness of Vesemnogene lantuparvovec therapy for SMA as evaluated by developmental gross motor milestone and survival.\n* To describe the safety profile of Vesemnogene therapy for SMA as evaluated by adverse events reporting and laboratory tests, and monitoring of Adverse events of special interest.",[27],"2025-12-02",{"date":378,"type":34},"2025-12-04",{"date":380,"type":34},"2025-10-15",{"date":382,"type":21},"2030-10-15",{"name":384,"class":74},"Lantu Biopharma",{"id":386,"slug":387,"hasResults":11,"nctId":388,"briefTitle":389,"officialTitle":389,"acronym":4,"eligibilityCriteria":390,"healthyVolunteers":11,"sex":16,"minAge":391,"maxAge":4,"enrollmentInfo":392,"targetDuration":4,"studyType":22,"phases":393,"briefSummary":394,"conditions":395,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":404,"lastUpdatePostDateStruct":405,"startDateStruct":407,"completionDateStruct":409,"leadSponsor":411,"locationsCount":42},"100544013","the-effect-of-a-muscle-mimicking-fabric-type-shoulder-orthosis-on-functional-movements-of-the-upper-limb-in-patients-with-neuromuscular-disorder-100544013","NCT06363357","The Effect of a Muscle-mimicking, Fabric-type Shoulder Orthosis on Functional Movements of the Upper Limb in Patients With Neuromuscular Disorder","Inclusion Criteria\n\n1. Patients with a confirmed diagnosis of a neuromuscular disease (NMD) by genetic testing, muscle biopsy, or electrodiagnostic studies, presenting with prominent upper limb muscle weakness. Examples include:\n\n   1. Muscular Dystrophies: Duchenne\u002FBecker Muscular Dystrophy (DMD\u002FBMD), Limb-Girdle Muscular Dystrophy (LGMD), Facioscapulohumeral Muscular Dystrophy (FSHD), etc.\n   2. Motor Neuron Diseases: Spinal Muscular Atrophy (SMA, Types 2 and 3), Amyotrophic Lateral Sclerosis (ALS, upper limb-dominant), etc.\n   3. Peripheral Neuropathies: Charcot-Marie-Tooth (CMT) disease, etc.\n   4. Other Neuromuscular Conditions: Including but not limited to cervical spinal cord injury.\n2. Aged over 10 years.\n3. A score of 2 to 5 on the Brooke Upper Extremity Functional Rating Scale.\n4. Manual Muscle Test (MMT) grade of less than 3 for shoulder abduction.\n5. Ability to provide written informed consent from the participant and\u002For their legal representative, indicating willingness to participate in the study.\n\nExclusion Criteria\n\n1. Unwillingness or inability to provide informed consent.\n2. A score of 1 or 6 on the Brooke Upper Extremity Functional Rating Scale.\n3. Cognitive impairment severe enough to interfere with the proper use of a shoulder orthosis.\n4. Any other condition which, in the opinion of the investigator, would make study participation inappropriate or unsafe for the patient.","10 Years",{"count":86,"type":21},[24],"The goal of this clinical trial is to investigate the effect of a muscle-mimicking, fabric-type shoulder orthosis on functional movements of the upper limb in patients with neuromuscular disorder.\n\nThe main questions it aims to answer are:\n\n* What is the impact of the muscle-mimicking, fabric-type shoulder orthosis on upper limb functional movements in patients with neuromuscular disorder?\n* Are there observable differences in upper limb function when the shoulder orthosis is worn versus when it is not?\n\nParticipants will:\n\n* Receive education on how to wear and use the shoulder orthosis.\n* Undergo evaluations, including assessment of upper limb performance, shoulder muscle strength testing, active range of motion measurements, assessment of functional workspace, goal attainment scale evaluation, surface electromyography, physiological measurements such as blood pressure and heart rate, fatigue assessment, and assessment for any musculoskeletal or skin-related issues.\n\nResearchers will compare neuromuscular disorder patients before and while wearing and operating the shoulder orthosis to see if there are any significant effects on variables such as upper limb function, range of motion, functional workspace, goal attainment scale, and surface electromyography.",[396,397,398,399,400,27,401,402,403],"Muscular Dystrophy, Duchenne","Orthotic Devices","Upper Extremity","Neuromuscular Diseases (NMD)","Fascioscapulohumeral Muscular Dystrophy","ALS (Amyotrophic Lateral Sclerosis)","LGMD","SCI - Spinal Cord Injury","2025-11-25",{"date":406,"type":34},"2025-12-03",{"date":408,"type":34},"2024-04-20",{"date":410,"type":21},"2025-12-31",{"name":412,"class":41},"Seoul National University Hospital",{"id":414,"slug":415,"hasResults":11,"nctId":416,"briefTitle":417,"officialTitle":417,"acronym":418,"eligibilityCriteria":419,"healthyVolunteers":83,"sex":16,"minAge":18,"maxAge":4,"enrollmentInfo":420,"targetDuration":4,"studyType":118,"phases":4,"briefSummary":422,"conditions":423,"keywords":4,"overallStatus":179,"whyStopped":4,"lastUpdateSubmitDate":425,"lastUpdatePostDateStruct":426,"startDateStruct":428,"completionDateStruct":430,"leadSponsor":432,"locationsCount":4},"100609003","psychological-evaluation-of-the-parental-experience-of-newborn-screening-for-infantile-spinal-muscular-atrophy-in-the-grand-est-and-nouvelle-aquitaine-regions-100609003","NCT07208903","Psychological Evaluation of the Parental Experience of Newborn Screening for Infantile Spinal Muscular Atrophy in the Grand Est and Nouvelle-Aquitaine Regions","PSYSMA","Inclusion Criteria:\n\n* Be the parent of a child included in the DEPISMA study, born in the Grand Est or Nouvelle-Aquitaine region;\n* Have received a positive or false-negative result from the neonatal SMA screening;\n* Be an adult at the time of inclusion;\n* Be proficient in French in order to participate in a focus group or an individual interview, and to complete the self-administered questionnaires;\n* Have been informed of the NNS result for at least 4 months, to allow sufficient time for a subjective reflection\n\nExclusion Criteria:\n\n* Parent who is not sufficiently proficient in French to participate in focus groups or complete questionnaires\n* Death of the child who was screened",{"count":421,"type":21},36,"The systematic inclusion of spinal muscular atrophy (SMA) in France's neonatal genetic screening (NGS) program, scheduled for September 2025, represents a major milestone in public health. While this screening enables early detection and therapeutic intervention before symptom onset, it also raises psychological and ethical challenges that remain underexplored-particularly during the highly sensitive postpartum period.\n\nCurrently, data on parental experiences following a positive SMA NGS result are scarce, fragmented, and largely derived from North American studies or from metabolic screening contexts. Early publications highlight high levels of parental anxiety, dissatisfaction with the quality of result disclosure, and difficulties in processing complex medical information in a short, emotionally charged timeframe. These findings underscore the need for a deeper understanding of the subjective processes at play in this situation.\n\nThe PSYSMA project is designed as an ancillary study to the DEPISMA trial. Its aim is to retrospectively explore parents' lived experiences, their psychosocial support needs, and the impact of NGS on family dynamics and the parent-child relationship. Special attention is given to cases with uncertain results (e.g., ≥4 SMN2 copies without treatment) and false negatives, which remain poorly documented but may trigger unique forms of parental anxiety or adaptation.\n\nThis research is justified by two main needs:\n\n* to guide public health policy toward integrating psychological support from the earliest stages of screening, in line with French National Health Authority (HAS) recommendations;\n* to generate new knowledge transferable to other genetic diseases that may be included in future neonatal screening programs.\n\nThe overarching goal is to retrospectively investigate the psychological experience of parents confronted with a positive or false-negative SMA NGS result, in order to analyze its subjective, emotional, and relational effects, as well as related needs for psychological support.\n\nStudy objectives :\n\n* Compare parental experiences according to the nature of the result (with or without treatment indication).\n* Identify psychosocial support needs, including for siblings.\n* Assess anxiety, depression, and post-traumatic symptoms associated with NGS.\n* Explore the broader impact on family functioning, particularly in relation to genetic counseling and communication within the extended family.",[27,424],"Spinal Muscular Atrophy Type I","2025-10-02",{"date":427,"type":34},"2025-10-06",{"date":429,"type":21},"2025-10-20",{"date":431,"type":21},"2026-10-20",{"name":433,"class":41},"University Hospital, Strasbourg, France",{"id":435,"slug":436,"hasResults":11,"nctId":437,"briefTitle":438,"officialTitle":438,"acronym":439,"eligibilityCriteria":440,"healthyVolunteers":11,"sex":16,"minAge":441,"maxAge":4,"enrollmentInfo":442,"targetDuration":4,"studyType":22,"phases":443,"briefSummary":444,"conditions":445,"keywords":446,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":450,"lastUpdatePostDateStruct":451,"startDateStruct":453,"completionDateStruct":455,"leadSponsor":457,"locationsCount":42},"100591195","safety-and-tolerability-of-low-motoneuron-stimulation-via-transcranial-magnetic-stimulation-in-spinal-muscular-atrophy-100591195","NCT06977269","Safety and Tolerability of Low Motoneuron Stimulation Via Transcranial Magnetic Stimulation in Spinal Muscular Atrophy","STIM-SMA","Inclusion Criteria:\n\n* Subject has a diagnosis of 5q-autosomal recessive SMA confirmed by DNA test.\n* Informed consent.\n* A minimum score of 1 for Entry Item \"A\" of the Revised Upper Limb Module (RULM) scale for SMA: \"Can use hands to hold pencil or pick up a coin\u002Ftoken or drive a powered chair, use phone key pad\"\n\nExclusion Criteria:\n\n* Subject has severe joint contractures that would affect ability to perform study measures, determined by the study physician.\n* Subject has a deconditioned respiratory system, per the discretion of the physician investigator.\n* Subject has behavioral or cognitive problems that preclude participation in the study, in the opinion of the investigator.","12 Years",{"count":142,"type":21},[24],"There is a general physiological rule that any organ or system needs some minimal amount of activity to prevent its atrophy or degeneration. Although the relevance of that rule to exercises in neuromuscular patients and for SMA in particular is not definitely proven, clinical observations seem to support this assumption. Also there are several experimental studies which provide additional support for utility of exercise for SMA.\n\nHowever, making regular exercises may be very challenging with SMA not only due to physical limitations, but due to psychological either.\n\nWhile being considered as safe and well tolerated intervention, TMS is able to mimic effects of real physical exercises, at least at the level of low motoneuron, it also provides several advantages. For example, possibility to exercise non-collaborative infants, minimization of psychological motivation impact in adults and\u002For ability to involve very weak muscle groups.",[27],[213,447,448,449],"Survival Motor Neuron protein (SMN)","Neurofilament (NF)","transcranial magnetic stimulation (TMS)","2025-06-15",{"date":452,"type":34},"2025-06-18",{"date":454,"type":34},"2025-05-19",{"date":456,"type":21},"2026-01",{"name":458,"class":41},"Charitable Foundation Children with Spinal Muscular Atrophy",{"id":460,"slug":461,"hasResults":11,"nctId":462,"briefTitle":463,"officialTitle":464,"acronym":465,"eligibilityCriteria":466,"healthyVolunteers":11,"sex":16,"minAge":467,"maxAge":4,"enrollmentInfo":468,"targetDuration":4,"studyType":118,"phases":4,"briefSummary":470,"conditions":471,"keywords":472,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":480,"lastUpdatePostDateStruct":481,"startDateStruct":483,"completionDateStruct":485,"leadSponsor":487,"locationsCount":489},"100591327","adult-sma-research-and-clinical-hub-100591327","NCT06978985","Adult SMA Research and Clinical Hub","Adult SMA REACH: Development and Implementation of a Standardised Data Set and Data Collection Research Study in the UK Adult SMA Population","REACH","Inclusion Criteria:\n\n* Age ≥16 years (when patients will begin the transition process to adulthood)\n* Genetically confirmed diagnosis of 5q SMA\n* Signed informed consent to take part in the study\n\nExclusion Criteria:\n\n* Non-5q SMA\n* No genetic confirmation\n* \\\u003C16 years of age\n* No signed informed consent or consent withdrawn","16 Years",{"count":469,"type":21},600,"Adult SMA REACH is a data collection study aiming to gain a better understanding of the impact of standards of care and new treatments on the natural history of Spinal Muscular Atrophy (SMA). This study is sponsored by The Newcastle upon Tyne Hospitals NHS Foundation Trust. Adult SMA REACH is funded by Biogen and Roche.\n\nCurrently, there are three drug treatments available for SMA in the UK: Zolgensma, Nusinersen and Risdiplam. Zolgensma is the only approved drug - Nusinersen and Risdiplam are currently available as part of Managed Access Agreements (MAA).",[27],[63,473,474,475,476,477,478,479],"Data collection","Adult SMA","SMA REACH","Data collection study","Spinal","Muscular Atrophy, Spinal","real-world data","2025-05-09",{"date":482,"type":34},"2025-05-18",{"date":484,"type":34},"2022-07-29",{"date":486,"type":21},"2027-04-30",{"name":488,"class":41},"Newcastle-upon-Tyne Hospitals NHS Trust",18,{"id":491,"slug":492,"hasResults":11,"nctId":493,"briefTitle":494,"officialTitle":495,"acronym":4,"eligibilityCriteria":496,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":497,"targetDuration":499,"studyType":118,"phases":4,"briefSummary":500,"conditions":501,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":502,"lastUpdatePostDateStruct":503,"startDateStruct":505,"completionDateStruct":507,"leadSponsor":509,"locationsCount":510},"100375872","registry-of-patients-with-a-diagnosis-of-spinal-muscular-atrophy-sma-100375872","NCT04174157","Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)","A Prospective, Long-Term Registry of Patients With a Diagnosis of Spinal Muscular Atrophy (SMA)","Inclusion Criteria:\n\n* Patients treated with OAV-101 with a genetically confirmed diagnosis of SMA regardless of the date of diagnosis.\n* Appropriate consent\u002Fassent has been obtained for participation in the registry\n\nExclusion Criteria:\n\n\\- Currently enrolled in an interventional clinical trial involving an investigational medicinal product to treat SMA.\n\nNote: Patients who are participating in a Compassionate Use Program (CUP) for OAV-101 (Zolgensma) such as a Managed Access Program (MAP), an Expanded Access Program (EAP), Single Patient Investigational New Drug (IND) (SPI) or Named Patient Program (NPP) are eligible to enroll in the registry regardless of the date of a genetic or clinical diagnosis of SMA.",{"count":498,"type":21},700,"15 Years","Spinal muscular atrophy (SMA) is a neurogenetic disorder caused by a loss or mutation in the survival motor neuron 1 gene (SMN1) on chromosome 5q13, which leads to reduced SMN protein levels and a selective dysfunction of motor neurons. SMA is an autosomal recessive, early childhood disease with an incidence of 1:10,000 live births. SMA is the leading cause of infant mortality due to genetic diseases.\n\nThe purpose of this registry is to assess the long term outcomes of patients with SMA in the context of advances in treatment options and also to characterize and assess long-term safety and effectiveness of OAV-101.",[27],"2025-01-30",{"date":504,"type":34},"2025-01-31",{"date":506,"type":34},"2018-09-25",{"date":508,"type":21},"2038-06-30",{"name":234,"class":74},99,{"id":512,"slug":513,"hasResults":11,"nctId":514,"briefTitle":515,"officialTitle":516,"acronym":517,"eligibilityCriteria":518,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":519,"enrollmentInfo":520,"targetDuration":4,"studyType":22,"phases":522,"briefSummary":524,"conditions":525,"keywords":4,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":526,"lastUpdatePostDateStruct":527,"startDateStruct":529,"completionDateStruct":531,"leadSponsor":533,"locationsCount":535},"100496671","phase-1-study-of-the-safety-and-efficacy-of-an-adeno-associated-viral-vector-carrying-the-smn-gene-after-a-single-intravenous-administration-of-escalating-doses-in-children-with-spinal-muscular-atrophy-bluebell-100496671","NCT05747261","Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy (BLUEBELL)","An Open-Label, Non-Comparative Clinical Study of the Safety and Efficacy of an Adeno-Associated Viral Vector Carrying the SMN Gene (ANB-004 (JSC BIOCAD, Russia)) After a Single Intravenous Administration of Escalating Doses in Children With Spinal Muscular Atrophy","BLUEBELL","Inclusion Criteria:\n\n1. Informed consent form for participation in the study signed by the subject's legal representative;\n2. Subjects of either sex under the age of 240 days at the time of signing the Information Sheet for the Legal Representative of the Clinical Study Subject with Informed Consent Form;\n3. A diagnosis of 5q-SMA (homozygous deletion of exon 7 of the SMN1 gene or heterozygous deletion of exon 7 + confirmed point mutation of the SMN1 gene) and 2 or 3 copies of the SMN2 gene established based on molecular genetic testing;\n4. Subjects with 2 copies of the SMN2 gene can be included in the study both at the presymptomatic stage of the disease and in the presence of SMA symptoms. If symptoms are present, the age of onset of the disease should be up to 180 days from birth.\n5. Subjects with 3 copies of the SMN2 gene can be included in the study if they have symptoms of SMA type 1 and the disease began before the age of 180 days.\n6. The ability of the subject's legal representative, in the Investigator's opinion, to perceive information and follow the Protocol procedures\n\nExclusion Criteria:\n\n1. A diagnosis of HIV infection, hepatitis B, hepatitis C, congenital syphilis in the study subject, as well as a documented diagnosis of HIV infection in the study subject's mother. Note: documented hepatitis B and\u002For hepatitis C and\u002For syphilis in the mother of a study subject is not an exclusion criterion in this clinical study, provided that standard breastfeeding rules are followed or the subject is not breastfed due to the low risk of transmission of hepatitis B and C viruses and Treponema pallidum from mother to child with breast milk;\n2. Unwillingness of the legal representative to use alternative feeding methods (nasogastric tube, gastrostomy) in case of swallowing disorders and a risk of aspiration;\n3. Anti-AAV9 antibody titer \\>1:50 determined by ELISA. Note: if a subject's screening anti-AAV9 antibody titer is \\>1:50, the anti-AAV9 antibody titer may be determined again. Subjects with anti-AAV9 antibody titers ≤1:50 in the second test may be included in the study;\n4. Need for respiratory support for ≥16 hours per day or tracheostomy ;\n5. Treatment with nusinersen, risdiplam, branaplam, onasemnogene abeparvovec or other antisense oligonucleotides\u002Fselective SMN2 splicing modifiers or gene therapy drugs for SMN1 transduction or other AAV-based gene therapy drugs regardless of serotype used previously (from birth) or planned for the main study period, i.e., within 12 months after the administration of the investigational product.\n6. A need to use any medications for the treatment of myopathy or neuropathy, drugs for the treatment of diabetes, ongoing immunosuppressive therapy, or the need for immunosuppressive therapy after the start of the study (for example, glucocorticoids (except for premedication and post-medication), cyclosporine, tacrolimus, methotrexate, cyclophosphamide, intravenous immunoglobulin, rituximab, etc.);\n7. Subjects with the following laboratory test results at screening:\n\n   * increased activity of transaminases (ALT, AST) or GGT \\>2×ULN;\n   * total bilirubin level ≥34 µmol\u002FL;\n   * creatinine level ≥160 µmol\u002FL;\n   * hemoglobin \\\u003C80 g\u002FL and \\>180 g\u002FL;\n   * WBC count \\>20x109\u002FL;\n   * Troponin I level \\> ULN.\n8. Any concomitant diseases that, in the Investigator's opinion, may affect the safety of ANB-004 in the subject or have a significant impact on the assessment of the outcomes of SMA therapy;\n9. A diagnosis of acute or chronic hepatic failure at screening;\n10. A known allergy or intolerance to any components of the investigational product or pre- and post-medication drug (glucocorticoids);\n11. Simultaneous participation of the subject in other clinical studies or previous participation in another clinical study using an experimental therapy.","240 Days",{"count":521,"type":21},40,[523,56],"PHASE1","The goal of this multicenter, open-label, non-comparative, cohort study is to investigate the safety, immunogenicity, and efficacy of ANB-004 in children with spinal muscular atrophy. The study will have a standard 3+3 dose-escalation design.",[27],"2024-02-21",{"date":528,"type":34},"2024-02-22",{"date":530,"type":34},"2023-02-02",{"date":532,"type":21},"2030-08",{"name":534,"class":74},"Biocad",7]