[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"myotubular-myopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:myotubular-myopathy":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,56],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":17,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":21,"conditions":22,"keywords":31,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":44,"lastUpdatePostDateStruct":45,"startDateStruct":48,"completionDateStruct":50,"leadSponsor":52,"locationsCount":55},"100078166","molecular-and-genetic-studies-of-congenital-myopathies-100078166",false,"NCT00272883","Molecular and Genetic Studies of Congenital Myopathies","Molecular Analysis of Neuromuscular Disease","Inclusion Criteria:\n\n* Individuals with a clinical or suspected diagnosis of a congenital myopathy and their family members\n\nExclusion Criteria:\n\n* No specific exclusion criteria. Our studies do not include myotonia congenita or related conditions.","ALL",{"count":18,"type":19},4000,"ESTIMATED","OBSERVATIONAL","In the Congenital Myopathy Research Program at Boston Children's Hospital and Harvard Medical School, the researchers are studying the congenital myopathies (neuromuscular diseases present from birth), including central core disease, centronuclear\u002Fmyotubular myopathy, congenital fiber type disproportion, multiminicore disease, nemaline myopathy, rigid spine muscular dystrophy, SELENON (SEPN1), RYR1 myopathy, ADSS1 (ADSSL) Myopathy and undefined congenital myopathies. The primary goal of the research is to better understand the genes and proteins (gene products) involved in muscle functioning and disease. The researchers hope that our studies will allow for improved diagnosis and treatment of individuals with congenital myopathies in the future. For more information, visit the Laboratory Website at www.childrenshospital.org\u002Fresearch\u002Fbeggs",[23,24,25,26,27,28,29,30],"Central Core Disease","Centronuclear Myopathy","Congenital Fiber Type Disproportion","Multiminicore Disease","Myotubular Myopathy","Nemaline Myopathy","Rigid Spine Muscular Dystrophy","Undefined Congenital Myopathy",[32,33,34,35,36,37,38,39,40,41,42],"central core","centronuclear","multiminicore","multicore","minicore","congenital fiber type disproportion","myotubular","nemaline","congenital myopathy","neuromuscular","rigid spine","RECRUITING","2026-03-24",{"date":46,"type":47},"2026-03-25","ACTUAL",{"date":49,"type":4},"2003-08",{"date":51,"type":19},"2050-01",{"name":53,"class":54},"Boston Children's Hospital","OTHER",1,{"id":57,"slug":58,"hasResults":11,"nctId":59,"briefTitle":60,"officialTitle":60,"acronym":4,"eligibilityCriteria":61,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":62,"targetDuration":64,"studyType":20,"phases":4,"briefSummary":65,"conditions":66,"keywords":71,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":80,"completionDateStruct":82,"leadSponsor":84,"locationsCount":55},"100367440","myotubular-and-centronuclear-myopathy-patient-registry-100367440","NCT04064307","Myotubular and Centronuclear Myopathy Patient Registry","Inclusion Criteria:\n\n* Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.\n* Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.\n* Any patient who is deceased, but who had a confirmed diagnosis.\n\nExclusion Criteria:\n\n\\- None",{"count":63,"type":19},500,"1 Year","The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.\n\nMore details and online registration are available at www.mtmcnmregistry.org.",[27,67,68,24,69,70],"Myotubular Myopathy 1","Myotubular (Centronuclear) Myopathy","Centronuclear Myopathy, X-Linked","X-linked Myotubular Myopathy",[72,73,74,75,76],"Registry","Patient Registry","Myotubular","Centronuclear","Myopathy","2025-04-07",{"date":79,"type":47},"2025-04-09",{"date":81,"type":47},"2013-03-26",{"date":83,"type":19},"2025-05",{"name":85,"class":54},"Newcastle-upon-Tyne Hospitals NHS Trust"]