[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-myopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-myopathy":31},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,54,81],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":4,"eligibilityCriteria":15,"healthyVolunteers":16,"sex":17,"minAge":18,"maxAge":19,"enrollmentInfo":20,"targetDuration":23,"studyType":24,"phases":4,"briefSummary":25,"conditions":26,"keywords":34,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":42,"lastUpdatePostDateStruct":43,"startDateStruct":46,"completionDateStruct":48,"leadSponsor":50,"locationsCount":53},"100631615","muscle-health-measurements-using-electrical-impedance-myography-100631615",false,"NCT07502989","Muscle Health Measurements Using Electrical Impedance Myography","Convenient Quantification of Myopathic Change in Muscle Via Electrical Impedance Myography","Inclusion Criteria:\n\n* Ages 18-89\n* Evidence of a primary myopathic condition as determined by detailed chart review, including results of genetic testing, serological data, or previous muscle biopsy\n\nExclusion Criteria:\n\n* Inability to lie flat or history of claustrophobia\n* \\>1+ lower extremity edema\n* Presence of multiple other pathologies affecting lower extremity muscles to be studied\n* Pregnancy\n* Contraindications for MRI scanning - e.g. MRI incompatible pacemaker, deep brain stimulator, or lower extremity hardware\n* Contraindications to undergo DXA Scan\n\n  * Any studies\u002Fscans with a radioisotope within the past 15 days\n  * Any imaging with radiographic contrast in the past 7 days\n  * Weight greater than 450 lbs\n  * Calcium supplements or antacids containing calcium in the past 24 hours\n* Severe obesity with BMI \\> 35 kg\u002Fm2, given difficulties fitting in MRI scanner and impact of severe obesity on EIM data\n* Chronic skin conditions with ulcerations which would interfere with EIM electrode contact or be uncomfortable for the participant",true,"ALL","18 Years","89 Years",{"count":21,"type":22},150,"ESTIMATED","1 Day","OBSERVATIONAL","This study is being done to further develop a device, the mScan, to measure muscle health as compared to measurements of muscle health using MRI (magnetic resonance imaging). This device is held against the skin and uses Electrical Impedance Myography (EIM). EIM uses a very small, noninvasive (e.g. no needles), brief (about 6 seconds), and painless electrical current to measure the muscle. The investigators will look at how the mScan predicts the muscle measurements seen on MRI in people with and without muscle disease. The investigators hope that this can be used in the future as a quick, convenient and less time-consuming way than MRI to assess muscle health. This could be used to measure how well treatments for different muscle disorders are working over a period of time.",[27,28,29,30,31,32,33],"Myopathy","Muscular Dystrophies","Myositis","Myofibrillar Myopathy","Congenital Myopathy","Distal Myopathy","Myopathies",[35,27,36,37,38,39,40],"Muscle Health","Device","Healthy control","MRI","Electrical Impedance Myography","EIM","RECRUITING","2026-03-30",{"date":44,"type":45},"2026-04-03","ACTUAL",{"date":47,"type":45},"2025-04-09",{"date":49,"type":22},"2027-09",{"name":51,"class":52},"Beth Israel Deaconess Medical Center","OTHER",1,{"id":55,"slug":56,"hasResults":11,"nctId":57,"briefTitle":58,"officialTitle":58,"acronym":59,"eligibilityCriteria":60,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":61,"targetDuration":4,"studyType":63,"phases":64,"briefSummary":66,"conditions":67,"keywords":4,"overallStatus":41,"whyStopped":4,"lastUpdateSubmitDate":72,"lastUpdatePostDateStruct":73,"startDateStruct":75,"completionDateStruct":77,"leadSponsor":79,"locationsCount":53},"100580145","transcriptomic-analysis-to-put-an-end-to-misdiagnosis-in-patients-with-rare-muscle-diseases-100580145","NCT06833489","Transcriptomic Analysis to Put an End to Misdiagnosis in Patients With Rare Muscle Diseases","ARNseq-Musc","Inclusion Criteria:\n\n* patients with rare genetic muscle diseases who have benefited from high-throughput sequencing analysis (panel of 200 genes defined by the FILNEMUS Rare Neuromuscular Disease Network) carried out at the Molecular Genetics Laboratory, Medical Genetics Department, Timone Enfant Hospital since 2017.\n\nThis criterion is necessary to limit the analysis to patients with muscular diseases among all the patients analysed by the Molecular Genetics Laboratory.\n\n* this genetic analysis did not identify pathogenic variants explaining the patient's phenotype This criterion is necessary in order to include only patients in diagnostic error.\n* a muscle biopsy of the patient is available in the Biological Resources Centre (CRB) at the AP-HM.\n\nExclusion Criteria:\n\n* Patients with no muscle biopsy available in the CRB.\n* Patients with an established molecular diagnosis.\n* Patients for whom RNA extraction from a muscle biopsy sample did not yield RNA of sufficient quality (INR \\>7) will be excluded from the study. A maximum of two extraction attempts will be performed.",{"count":62,"type":22},50,"INTERVENTIONAL",[65],"NA","Since 2017, more than 250 analyses performed at the Molecular Genetics Laboratory of the Timone Enfant Hospital have yielded negative results in patients with rare genetic muscle diseases. The researchers hypothesise that some of these misdiagnosed patients carry pathogenic RNA (transcript) disrupting variants that were not identified by DNA sequencing. In fact, DNA sequencing analyses can be negative despite the presence of a pathogenic variant that disrupts RNA splicing or expression, causing a genetic disease. For this reason, RNA sequencing can provide a diagnosis in patients who have not been diagnosed by DNA sequencing, thus putting an end to diagnostic wandering. Thus, as a descriptive prevalence study, the objectives are first to determine the rate of positive diagnoses made by the RNAseq approach in patients with muscle diseases that have not yet been diagnosed, and then to identify the genomic characteristics of the pathogenic variants identified in patients by RNAseq analysis, in order to facilitate the identification of this type of variant in future patients.\n\n50 patients will be included in this study during 2 years.",[68,69,70,31,71],"Rare Genetic Muscle Diseases","Muscular Dystrophy, Duchenne","Muscular Dystrophy, Becker","Pompe Disease (Infantile-Onset)","2025-02-17",{"date":74,"type":45},"2025-02-18",{"date":76,"type":22},"2025-03-01",{"date":78,"type":22},"2027-03-01",{"name":80,"class":52},"Assistance Publique Hopitaux De Marseille",{"id":82,"slug":83,"hasResults":11,"nctId":84,"briefTitle":85,"officialTitle":86,"acronym":4,"eligibilityCriteria":87,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":88,"targetDuration":4,"studyType":24,"phases":4,"briefSummary":90,"conditions":91,"keywords":99,"overallStatus":102,"whyStopped":4,"lastUpdateSubmitDate":103,"lastUpdatePostDateStruct":104,"startDateStruct":106,"completionDateStruct":108,"leadSponsor":110,"locationsCount":53},"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":89,"type":22},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.",[92,93,31,94,95,96,97,98],"Neuromuscular Disease","Malignant Hyperthermia","Multiminicore Disease","Nemaline Myopathy","Centronuclear Myopathy","Central Core Disease","Congenital Fiber Type Disproportion",[100,101,93,31],"RYR1","Ryanodine Receptor Type 1","NOT_YET_RECRUITING","2025-01-22",{"date":105,"type":45},"2025-01-24",{"date":107,"type":22},"2025-02",{"date":109,"type":22},"2026-09",{"name":111,"class":52},"King's College London"]