[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Institut de Myologie, France\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":123},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,50,76,102],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":14,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":32,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100617696","assessment-of-a-portable-digital-device-for-quantified-analysis-of-markerless-walking-in-volunteers-with-neuromuscular-diseases-or-asymptomatic-volunteers-100617696",false,"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,"ALL","18 Years","65 Years",{"count":21,"type":22},30,"ESTIMATED","INTERVENTIONAL",[25],"NA","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.",[28,29,30,31],"Spinal Muscular Atrophy (SMA)","Charcot-Marie-Tooth","Muscular Dystrophy","Myotonic Dystrophy",[33,34,35,36],"gait analysis","neuromuscular","disease","markerless","RECRUITING","2026-05-18",{"date":40,"type":41},"2026-05-19","ACTUAL",{"date":43,"type":41},"2026-03-03",{"date":45,"type":22},"2027-01-06",{"name":47,"class":48},"Institut de Myologie, France","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":54,"acronym":55,"eligibilityCriteria":56,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":57,"targetDuration":4,"studyType":59,"phases":4,"briefSummary":60,"conditions":61,"keywords":64,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":68,"lastUpdatePostDateStruct":69,"startDateStruct":71,"completionDateStruct":73,"leadSponsor":75,"locationsCount":49},"100582695","evaluating-dyspnea-in-autoimmune-myasthenia-gravis-why-am-i-short-of-breath-100582695","NCT06866652","Evaluating Dyspnea in Autoimmune Myasthenia Gravis \"Why am I Short of Breath?\"","MyaRESP","Inclusion Criteria:\n\n* Age ≥18\n* Confirmed diagnosis of autoimmune MG\n* Shortness of breath in daily life: score 1 or 2 on the respiration item on the MG- activities of daily living score\n* Signed consent form\n* Affiliated to or beneficiary of a social security scheme\n\nExclusion Criteria:\n\n* Known Pregnancy\n* Known respiratory disorder (other than MG)\n* Recent (within past 4 weeks) respiratory infection\n* Current MG crisis or exacerbation (necessitating increase in MG medication \\&\u002For hospital admission)\n* No dyspnea - score 0 or 3 on the respiration item on the MG- activities of daily living score\n* Severe cognitive impairment\u002Fguardianship",{"count":58,"type":22},50,"OBSERVATIONAL","Individuals with MG (IwMG) experience shortness of breath that may be activity-related, occur at rest and even happen during sleep. Dyspnea is a complex, multidimensional and multifactorial symptom involving sensory perception, cognition and emotion. Identifying the cause(s) of dyspnea in MG may assist in finding therapeutic strategies, reducing discomfort, improving QoL and potentially limiting respiratory deterioration and incidence of MG crisis.",[62,63],"Myasthenia Gravis","Dyspnea",[65,66,67],"dyspnea","breathlessness","respiratory","2026-05-04",{"date":70,"type":41},"2026-05-08",{"date":72,"type":41},"2026-04-08",{"date":74,"type":22},"2028-06",{"name":47,"class":48},{"id":77,"slug":78,"hasResults":11,"nctId":79,"briefTitle":80,"officialTitle":81,"acronym":82,"eligibilityCriteria":83,"healthyVolunteers":11,"sex":17,"minAge":84,"maxAge":85,"enrollmentInfo":86,"targetDuration":4,"studyType":59,"phases":4,"briefSummary":88,"conditions":89,"keywords":91,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":94,"lastUpdatePostDateStruct":95,"startDateStruct":97,"completionDateStruct":99,"leadSponsor":101,"locationsCount":5},"100543355","natural-history-study-of-children-with-lama2-related-dystrophies-100543355","NCT06354790","Natural History Study of Children With LAMA2-related Dystrophies","A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies","LAMA2","Inclusion Criteria:\n\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)\n* Subject must be\n* Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:\n\n  * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or\n  * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene\n* Absence of another confirmed neurological genetic disease\n* Willingness to maintain current exercise and\u002For physical therapy regimen for the duration of the clinical study\n* Willingness to comply with the study protocol, including all the mandatory study procedures and visits\n* Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme\n\nExclusion Criteria:\n\n* Developmental quotient less than 70 and\u002For behavioral disorder requiring general anesthesia to perform an MRI\n* Acute medical illness or hospitalization within 30 days prior to informed consent\n* Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study\n* Other significant medical condition and\u002For overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD\n* Pregnant or breastfeeding women","2 Years","15 Years",{"count":87,"type":22},40,"The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.\n\nThe aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.\n\nParticipants will be follow up during a two years period regarding exhaustive aspects of the pathology:\n\n* Muscular function\n* Respiratory function\n* Cognitive phenotyping\n* Quality of life\n* Growth parameters\n* Biomarkers",[90],"Merosin Deficient Congenital Muscular Dystrophy",[82,92,93],"Congenital Muscular Dystrophy","Natural history","2024-12-09",{"date":96,"type":41},"2024-12-12",{"date":98,"type":41},"2024-12-05",{"date":100,"type":22},"2027-12-31",{"name":47,"class":48},{"id":103,"slug":104,"hasResults":11,"nctId":105,"briefTitle":106,"officialTitle":106,"acronym":4,"eligibilityCriteria":107,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":108,"targetDuration":110,"studyType":59,"phases":4,"briefSummary":111,"conditions":112,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":114,"lastUpdatePostDateStruct":115,"startDateStruct":117,"completionDateStruct":119,"leadSponsor":121,"locationsCount":122},"100563467","french-observatory-for-patients-with-type-3-glycogenosis-100563467","NCT06616545","French Observatory for Patients with Type 3 Glycogenosis","Inclusion Criteria:\n\n* Patients with molecularly characterised Glycogen Storage Disease Type III\n\nExclusion Criteria:\n\n* Patients diagnosed with GSD type 3 refusing to take part in the study",{"count":109,"type":22},150,"10 Years","Glycogen storage disease type III (GSD-III) or Cori\u002FForbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients present with liver involvement only (GSD-IIIb). In childhood, the phenotype is mainly characterised by hepatomegaly, short stature and hypoglycaemia, with minimal skeletal muscle involvement. While liver symptoms improve spontaneously around puberty, skeletal muscle weakness develops progressively in adulthood and becomes a major feature of GSD-IIIa.\n\nCurrently, there is no treatment other than dietary management tailored to the individual to limit glycogen storage and avoid hypoglycaemia.\n\nThe French GSD-III registry is a multicentre online registry dedicated to patients with type III glycogen storage disease followed in France. It has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic AGL gene mutation and\u002For reduced glycogen debranching enzyme activity.\n\nThe aims of the registry are to provide a tool for recording detailed diagnostic, metabolic, neurological, cardiac and biological data on French patients with GSD-III, so as to enable i) a precise natural history of the disease, ii) identification of the outcome measures most sensitive to disease progression, iii) assessment of the frequency of the various complications of the disease and iv) identification of prognostic factors.",[113],"Glycogen Storage Disease Type III","2024-09-26",{"date":116,"type":41},"2024-09-27",{"date":118,"type":41},"2013-09-01",{"date":120,"type":22},"2026-12",{"name":47,"class":48},3,""]