[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"central-core-disease\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:central-core-disease":23},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,56,83],{"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":61,"acronym":4,"eligibilityCriteria":62,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":63,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":65,"conditions":66,"keywords":70,"overallStatus":73,"whyStopped":4,"lastUpdateSubmitDate":74,"lastUpdatePostDateStruct":75,"startDateStruct":77,"completionDateStruct":79,"leadSponsor":81,"locationsCount":55},"100576905","the-prevalence-of-ryr1-related-disease-100576905","NCT06791369","The Prevalence of RYR1-related Disease","The Prevalence of RYR1-related Disease - an International, Collaborative Multicentre Study","Inclusion Criteria:\n\n* the presence of (an) unequivocally pathogenic RYR1 mutation(s)\n* clinical features of a recognized RYR1-related disorder (i.e. a congenital myopathy, MH or related phenotypes)\n* at least one specialist review at one of the national expertise centres\n* being resident in one of the participating countries.\n\nCriteria for the diagnosis of a congenital myopathy are the presence of suggestive clinical features and supportive muscle biopsy findings, or the presence of supportive histopathological findings in a first degree relative with similar clinical features and the same RYR1 genotype. Criteria for the diagnosis of MH susceptibility are clinical features suggestive of malignant hyperthermia (as defined by a diagnostic Larach score) and\u002For a positive IVCT\u002FCHCT test, or a relative with a history of MH and the same RYR1 genotype. Exclusion criteria will be a clinical diagnosis of a congenital myopathy or malignant hyperthermia without any of the supportive evidence as outlined above, or not being resident in one of the participating countries.\n\nExclusion Criteria:\n\n* a clinical diagnosis of a congenital myopathy or malignant hyperthermia without any of the supportive evidence as outlined above\n* not being resident in one of the participating countries.",{"count":64,"type":19},2000,"The skeletal muscle ryanodine receptor (RYR1) gene encodes an important calcium channel in skeletal muscle, with an important role in muscle contraction. Mutations (i.e. disease-causing changes) in RYR1 are associated with an immensely wide range of clinical problems, ranging from inborn muscle conditions with profound weakness at birth (\"congenital myopathies\"), to a potentially fatal anaesthesia complication (\"Malignant Hyperthermia, MH\") in otherwise healthy individuals. Although RYR1-related conditions are believed to be amongst the most common neuromuscular disorders, their precise prevalence (i.e. the number of cases in a particular population at a given time) is currently unknown. Moreover, there is no information regarding the relative frequency of specific congenital myopathies, MH and related manifestations, such as the associated bleeding abnormality recently described by our team.\n\nThe lack of reliable prevalence data represents a major obstacle to addressing the needs of individuals affected by RYR1-related conditions, to appropriate resource allocation, and to preparation for clinical studies (\"trial-readiness\") essential for therapy development.\n\nTo address this shortcoming, we will conduct an international collaborative study involving neuromuscular and MH centres from the UK and the Netherlands, focusing on the prevalence of RYR1-related conditions, as a group and per subtype. The countries participating in this study were included because of 1) centralized RYR1 testing, 2) the presence of at least one database\u002Fregistry with population-wide coverage capturing RYR1-related disorders and 3) of national myopathy and MH expertise centres. Information regarding RYR1-mutated individuals and their specific diagnosis will be obtained from national databases\u002Fregistries, and analysed utilizing statistical methods that are well-established in the field of epidemiology.\n\nThis study will provide important information regarding the actual disease burden of RYR1-related disorders on a wider scale, inform appropriate research resource allocation, and preparation for trial readiness. This study will be funded by the RYR1-Foundation.",[67,68,69,26,28,24,23,25],"Neuromuscular Disease","Malignant Hyperthermia","Congenital Myopathy",[71,72,68,69],"RYR1","Ryanodine Receptor Type 1","NOT_YET_RECRUITING","2025-01-22",{"date":76,"type":47},"2025-01-24",{"date":78,"type":19},"2025-02",{"date":80,"type":19},"2026-09",{"name":82,"class":54},"King's College London",{"id":84,"slug":85,"hasResults":11,"nctId":86,"briefTitle":87,"officialTitle":88,"acronym":89,"eligibilityCriteria":90,"healthyVolunteers":11,"sex":16,"minAge":91,"maxAge":4,"enrollmentInfo":92,"targetDuration":4,"studyType":20,"phases":4,"briefSummary":94,"conditions":95,"keywords":97,"overallStatus":43,"whyStopped":4,"lastUpdateSubmitDate":102,"lastUpdatePostDateStruct":103,"startDateStruct":105,"completionDateStruct":107,"leadSponsor":109,"locationsCount":111},"100528169","the-natural-history-and-muscle-fatigability-of-patients-with-congenital-myopathies-100528169","NCT06157268","The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.","Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability","READYCOM","Inclusion Criteria for the natural history:\n\n* 2 years or older\n* Willing and able to complete the measurement protocol\n* Willing and able to travel to Nijmegen and Utrecht\n* Dutch-speaking\n* Genetically-confirmed congenital myopathy (CCD\u002FMmD, NEM, and CNM)\n\nInclusion Criteria for the fatigability study:\n\n* 8-60 years old\n* Willing and able to complete the measurement protocol\n* Willing and able to travel to Nijmegen and Utrecht\n* Dutch-speaking\n* Genetically-confirmed congenital myopathy (CCD\u002FMmD, NEM, and CNM)\n* Willing to stop taking pyridostigmine and\u002For salbutamol 24 hours before the visit.\n\nExclusion Criteria for both parts:\n\nOther neuromuscular, psychiatric or neurological disorders.","2 Years",{"count":93,"type":19},100,"Core myopathies (CCD\u002FMmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD\u002FMmD, NEM and CNM.",[23,96,28,24],"Multi-Minicore Disease",[98,99,100,101],"Natural history study","Outcome measures","Congenital myopathy","Muscle disease","2024-08-15",{"date":104,"type":47},"2024-08-19",{"date":106,"type":47},"2024-03-28",{"date":108,"type":19},"2026-11",{"name":110,"class":54},"Radboud University Medical Center",2]