[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"malignant-hyperthermia\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:malignant-hyperthermia":24},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,2,0,[8,47],{"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":34,"whyStopped":4,"lastUpdateSubmitDate":35,"lastUpdatePostDateStruct":36,"startDateStruct":39,"completionDateStruct":41,"leadSponsor":43,"locationsCount":46},"100576905","the-prevalence-of-ryr1-related-disease-100576905",false,"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.","ALL",{"count":18,"type":19},2000,"ESTIMATED","OBSERVATIONAL","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.",[23,24,25,26,27,28,29,30],"Neuromuscular Disease","Malignant Hyperthermia","Congenital Myopathy","Multiminicore Disease","Nemaline Myopathy","Centronuclear Myopathy","Central Core Disease","Congenital Fiber Type Disproportion",[32,33,24,25],"RYR1","Ryanodine Receptor Type 1","NOT_YET_RECRUITING","2025-01-22",{"date":37,"type":38},"2025-01-24","ACTUAL",{"date":40,"type":19},"2025-02",{"date":42,"type":19},"2026-09",{"name":44,"class":45},"King's College London","OTHER",1,{"id":48,"slug":49,"hasResults":11,"nctId":50,"briefTitle":51,"officialTitle":52,"acronym":4,"eligibilityCriteria":53,"healthyVolunteers":11,"sex":16,"minAge":54,"maxAge":55,"enrollmentInfo":56,"targetDuration":58,"studyType":20,"phases":4,"briefSummary":59,"conditions":60,"keywords":4,"overallStatus":61,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":46},"100470207","screening-of-malignant-hyperthermia-susceptible-individuals-100470207","NCT05402839","Screening of Malignant Hyperthermia Susceptible Individuals","Molecular Genetics Study on Screening of Malignant Hyperthermia Susceptible Individuals","Inclusion Criteria:\n\n* Patients undergoing surgery under general anesthesia during the study period developed malignant hyperthermia during or after surgery.\n\nExclusion Criteria:\n\n* Malignant hyperthermia was ruled out by later treatment and diagnosis;\n* The patient or family member refuses to be recruited.","0 Years","100 Years",{"count":57,"type":19},50,"10 Years","This study intends to target patients who underwent surgery under general anesthesia during the study period and developed malignant hyperthermia during or after surgery. Therefore, the total sample size was estimated to be about 50 people based on the past incidence of this rare disease. Every year, about 20 patients and their families who developed malignant hyperthermia during or after surgery will participate in this nationwide study (estimated by the current incidence of malignant hyperthermia), and about 1-5 patients will be admitted to Peking University Third Hospital participate in this research. Relevant specimens were collected from malignant hyperthermia (MH) patients and their family members for genetic analysis to determine the mutation of MH-related pathogenic gene loci.",[24],"RECRUITING","2022-05-30",{"date":64,"type":38},"2022-06-02",{"date":66,"type":38},"2022-02-22",{"date":68,"type":19},"2041-02",{"name":70,"class":45},"Peking University Third Hospital"]