[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"nemaline-myopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:nemaline-myopathy":26},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,7,0,[8,40,79,117,160,185,211],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":18,"targetDuration":4,"studyType":21,"phases":22,"briefSummary":24,"conditions":25,"keywords":4,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":29,"startDateStruct":32,"completionDateStruct":34,"leadSponsor":36,"locationsCount":39},"100608444","natural-history-study-for-patients-with-nemaline-myopathy-in-belgium-100608444",false,"NCT07201636","Natural History Study for Patients With Nemaline Myopathy in Belgium","A Monocentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy","Acti-Nemaline","Inclusion Criteria:\n\n* Male or Female\n* Any age\n* Patient and\u002For parent or legal guardian must be willing and have the ability to provide written informed consent for participation in the study.\n* Diagnosis of NM which in most cases includes having a disease-causing variant\u002Fs in one of the known NM causative genes and a consistent clinical phenotype.\n\nExclusion Criteria:\n\n* Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and\u002For the compliance with the study procedures. This will be subject to the clinical judgement of the Coordinating Investigator (CI) and\u002For the Principal Investigator (PI).\n* Clinically significant medical finding on the physical examination other than NM that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and\u002For completion of the study procedures.\n* Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of NM.\n* Safety concerns. This includes anything that might put the participant and\u002For their Parent(s) or Guardian(s) at risk through participating in the study potentially including but not limited to: Safeguarding concerns, Social Issues and Health issues.\n* Ongoing pregnancy (for participants becoming pregnant during the trial, some assessments may be cancelled or postponed. This will be subject to the clinical judgement of the Coordinating Investigator and\u002For the Principal Investigator)","ALL",{"count":19,"type":20},10,"ESTIMATED","INTERVENTIONAL",[23],"NA","This is a prospective, longitudinal, observational study designed to characterize the natural history of Nemaline Myopathy (NM), a rare congenital neuromuscular disorder. The study will follow up to 10 participants of any age with genetically confirmed NM over a period of three years. Data will be collected during routine annual hospital visits and include clinical, motor, respiratory, and quality-of-life assessments. The goal is to improve clinical trial readiness by identifying disease-specific outcome measures and potential biomarkers.",[26],"Nemaline Myopathy","NOT_YET_RECRUITING","2026-03-24",{"date":30,"type":31},"2026-03-25","ACTUAL",{"date":33,"type":20},"2026-08",{"date":35,"type":20},"2029-08",{"name":37,"class":38},"Centre Hospitalier Universitaire de Liege","OTHER",1,{"id":41,"slug":42,"hasResults":11,"nctId":43,"briefTitle":44,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":47,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":50,"conditions":51,"keywords":59,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":28,"lastUpdatePostDateStruct":72,"startDateStruct":73,"completionDateStruct":75,"leadSponsor":77,"locationsCount":39},"100078166","molecular-and-genetic-studies-of-congenital-myopathies-100078166","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.",{"count":48,"type":20},4000,"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",[52,53,54,55,56,26,57,58],"Central Core Disease","Centronuclear Myopathy","Congenital Fiber Type Disproportion","Multiminicore Disease","Myotubular Myopathy","Rigid Spine Muscular Dystrophy","Undefined Congenital Myopathy",[60,61,62,63,64,65,66,67,68,69,70],"central core","centronuclear","multiminicore","multicore","minicore","congenital fiber type disproportion","myotubular","nemaline","congenital myopathy","neuromuscular","rigid spine","RECRUITING",{"date":30,"type":31},{"date":74,"type":4},"2003-08",{"date":76,"type":20},"2050-01",{"name":78,"class":38},"Boston Children's Hospital",{"id":80,"slug":81,"hasResults":11,"nctId":82,"briefTitle":83,"officialTitle":83,"acronym":4,"eligibilityCriteria":84,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":85,"targetDuration":87,"studyType":49,"phases":4,"briefSummary":88,"conditions":89,"keywords":105,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":108,"lastUpdatePostDateStruct":109,"startDateStruct":111,"completionDateStruct":113,"leadSponsor":115,"locationsCount":39},"100630525","natural-history-study-for-patients-with-nemaline-myopathy-in-spain-100630525","NCT07488806","Natural History Study for Patients With Nemaline Myopathy in Spain","Inclusion Criteria:\n\n* Patients with a confirmed clinical and genetic diagnosis of MN (mutations in ACTA1, NEB, TPM2, TPM3, KBTBD13, CFL2, KLHL40, KLHL41, LMOD3, MYPN, TNNT1, TNNT3), or under discussion if they only have a compatible biopsy.\n* Signed informed consent by the patient or Legal Authority Responsible, and\u002For assent by the subject (in pediatric population).",{"count":86,"type":20},100,"5 Years","The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of nemaline myopathies. The study aims to establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials.",[26,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104],"Myopathies","Myopathic Conditions","NEB","ACTA1","TPM2","TPM3","TNNT1","CFL2","KBTBD13","KLHL40","KLHL41","LMOD3","Cohort Studies","MYPN","TNNT3",[106,107],"NATURAL HISTORY","NEMALINE MYOPATHY","2026-03-18",{"date":110,"type":31},"2026-03-23",{"date":112,"type":20},"2026-06",{"date":114,"type":20},"2032-06",{"name":116,"class":38},"Hospital Universitari Vall d'Hebron Research Institute",{"id":118,"slug":119,"hasResults":11,"nctId":120,"briefTitle":121,"officialTitle":122,"acronym":4,"eligibilityCriteria":123,"healthyVolunteers":11,"sex":17,"minAge":124,"maxAge":4,"enrollmentInfo":125,"targetDuration":4,"studyType":21,"phases":127,"briefSummary":128,"conditions":129,"keywords":146,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":152,"startDateStruct":154,"completionDateStruct":156,"leadSponsor":158,"locationsCount":39},"100629707","effects-of-whole-body-electrical-muscle-stimulation-exercise-on-adults-with-neuromuscular-disease-100629707","NCT07478172","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease","Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults withNeuromuscular Disease","Inclusion Criteria:\n\n* Age 18 or older\n* Diagnosed with one or more of the following neuromuscular conditions: Amyotrophic lateral sclerosis, primary lateral sclerosis, progressive muscle atrophy, spinal muscular atrophy, postpolio syndrome, inclusion body myositis, pompedisease, fascioscapulohumeral muscular dystrophy, charcot marie tooth disease, chronic inflammatory demyelinating polyneuropathy, hereditary spastic paraplegia, myasthenia gravis, lambert-eaton myasthenic syndrome, postural orthostatic tachycardia syndrome, mitochondrial myopathy, nemaline myopathy, centronuclear myopathy, lumbar radiculopathy, non-specific low back pain.\n* Ability to stand for approximately 15 minutes continuously with or without an assistive device (i.e. the length of time to stand to take a shower, complete meal preparation, wait in line at the bank, etc.)\n* At least some anti-gravity strength in major muscle groups as assessed by manual muscle testing (i.e. 2+\u002F5 strength or better)\n* Medical clearance to participate in an exercise program\n* Ability to provide informed consent\n* Ability to conform to the requirements of the study (i.e. attendance at assessment and intervention visits, maintain current level of non-study physical activity for the duration of the study, no intention to relocate mid-study)\n\nExclusion Criteria:\n\n* Diagnosed with one of the following neuromuscular conditions: Becker's muscular dystrophy, Duchenne muscular dystrophy, limb-girdle muscular dystrophy, myotonic dystrophy type 1 or 2, Freidrich's ataxia, any other NMD with known or suspected cardiac involvement or muscle fiber structural integrity defects.\n* Concurrent participation in another interventional research study\n* Unable to tolerate 15 minutes of continuous standing with or without an assistive device\n* Presence of a pacemaker, metal implants, or other implanted medical devices that could impact participant safety during WB-EMS intervention\n* Presence of cochlear implant, cortical stimulator, deep brain stimulator, ventriculoperitoneal shunt, recent skull defect, seizure in the past 12 months while taking anti-epilepsy medication, or previous serious adverse event with TMS, which could impact participant safety during TMS testing\n* Presence of unstable acute or chronic disease (i.e. renal failure, rheumatologic disease, cardia arrhythmia, neoplasm, uncontrolled hypertension)\n* Known pregnancy at time of screening; verbal screening will occur throughout the study.\n* Presence of a terminal disease (i.e. receiving hospice services)\n* Current or previous use of any drugs known to influence muscle mass or performance within 6 months; these may include but are not limited to anabolic steroids, IGF01, growth hormone, replacement androgen therapy, anti-androgen therapy\n* Presence of an additional neurologic conditions affecting somatosensory or motor function\u002Fcontrol (i.e. Parkinson's disease, Multiple Sclerosis, h\u002Fo stroke, TBI, SCI, ataxia, apraxia, hemiplegia, etc.)\n* Musculoskeletal condition or surgery in the past year that would confound results of exercise interventions (i.e. TKA, THA, RTC repair, spinal fusion)\n* Other medical conditions, signs, or symptoms that would interfere with study conductor interpretation of results as determined by an investigator","18 Years",{"count":126,"type":20},50,[23],"This single-arm pilot study evaluates the effects of whole-body electrical muscle stimulation (WB-EMS) exercise on neuromuscular and physical function in adults with neuromuscular disease (NMD). Due to motor unit impairments, NMD patients often cannot tolerate traditional exercise. WB-EMS bypasses voluntary activation limits by directly stimulating muscle contractions. Up to 50 adults with conditions like ALS, SMA, and MG will undergo 20-minute supervised WB-EMS sessions (1-2 times weekly for 4-8 weeks) using the Katalyst system. Outcomes include neural excitability (TMS), motor unit behavior (EMG, NCS), functional tests (walk, balance, strength), and patient-reported fatigue, pain, and quality of life. Strict safety monitoring and exclusion criteria are in place. This study will provide preliminary data on WB-EMS as a potential exercise modality for NMD.",[130,131,132,133,134,135,136,137,138,139,26,53,140,141,142,143,144,145],"Neuromuscular Diseases (NMD)","Amyotrophic Lateral Sclerosis","Myasthenia Gravis","Lambert-eaton Myasthenic Syndrome","Primary Lateral Sclerosis","Spinal Muscular Atrophy","Charcot Marie Tooth Disease (CMT)","Fascioscapulohumeral Muscular Dystrophy","Inclusion Body Myositis","Mitochondrial Myopathy","Postpolio Syndrome","Pompe Disease (Late-onset)","Chronic Inflammatory Demyelinating Polyneuropathy","Hereditary Spastic Paraplegia","Postural Orthostatic Tachycardia Syndrome (POTS)","Progressive Muscular Atrophy",[147,148,149,150],"Neuromuscular Disease","Electrical Stimulation","Whole Body stimulation","Exercise intervention","2026-03-12",{"date":153,"type":31},"2026-03-17",{"date":155,"type":31},"2026-03-10",{"date":157,"type":20},"2031-01-07",{"name":159,"class":38},"University of Missouri-Columbia",{"id":161,"slug":162,"hasResults":11,"nctId":163,"briefTitle":164,"officialTitle":165,"acronym":4,"eligibilityCriteria":166,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":167,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":169,"conditions":170,"keywords":173,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":176,"lastUpdatePostDateStruct":177,"startDateStruct":179,"completionDateStruct":181,"leadSponsor":183,"locationsCount":39},"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":168,"type":20},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.",[147,171,172,55,26,53,52,54],"Malignant Hyperthermia","Congenital Myopathy",[174,175,171,172],"RYR1","Ryanodine Receptor Type 1","2025-01-22",{"date":178,"type":31},"2025-01-24",{"date":180,"type":20},"2025-02",{"date":182,"type":20},"2026-09",{"name":184,"class":38},"King's College London",{"id":186,"slug":187,"hasResults":11,"nctId":188,"briefTitle":189,"officialTitle":189,"acronym":4,"eligibilityCriteria":190,"healthyVolunteers":11,"sex":17,"minAge":191,"maxAge":124,"enrollmentInfo":192,"targetDuration":193,"studyType":49,"phases":4,"briefSummary":194,"conditions":195,"keywords":196,"overallStatus":27,"whyStopped":4,"lastUpdateSubmitDate":201,"lastUpdatePostDateStruct":202,"startDateStruct":204,"completionDateStruct":206,"leadSponsor":208,"locationsCount":210},"100575624","nemaline-myopathy-clinical-research-network-nm-ctrn-100575624","NCT06774703","Nemaline Myopathy Clinical Research Network (NM-CTRN)","Inclusion Criteria:\n\n* 0-18 years of age at recruitment\n* Confirmation of Nemaline Myopathy (pathogenic or likely pathogenic mutations in ACTA1 (AD) or NEB (AR)\n* Patient and\u002For parent or legal guardian must be willing and able to provide informed consent\n\nExclusion Criteria:\n\n* Clinically significant medical finding on the physical examination, other than NM, that the Investigator deems unsuitable for participation in and\u002For completion of the study procedures\n* Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and\u002For the compliance with the study procedures. This will be subject to the clinical judgement of the Principal Investigator (PI)\n* Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded\n* Safety concerns","0 Years",{"count":126,"type":20},"3 Years","The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).",[26],[197,198,199,200],"Neuromuscular disease","Observational study","Congenital myopathy","Nemaline rod","2025-01-08",{"date":203,"type":31},"2025-01-14",{"date":205,"type":20},"2025-01",{"date":207,"type":20},"2029-12",{"name":209,"class":38},"Stanford University",6,{"id":212,"slug":213,"hasResults":11,"nctId":214,"briefTitle":215,"officialTitle":216,"acronym":217,"eligibilityCriteria":218,"healthyVolunteers":11,"sex":17,"minAge":219,"maxAge":4,"enrollmentInfo":220,"targetDuration":4,"studyType":49,"phases":4,"briefSummary":221,"conditions":222,"keywords":224,"overallStatus":71,"whyStopped":4,"lastUpdateSubmitDate":228,"lastUpdatePostDateStruct":229,"startDateStruct":231,"completionDateStruct":233,"leadSponsor":235,"locationsCount":237},"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":86,"type":20},"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.",[52,223,26,53],"Multi-Minicore Disease",[225,226,199,227],"Natural history study","Outcome measures","Muscle disease","2024-08-15",{"date":230,"type":31},"2024-08-19",{"date":232,"type":31},"2024-03-28",{"date":234,"type":20},"2026-11",{"name":236,"class":38},"Radboud University Medical Center",2]