[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"myopathy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:myopathy":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,6,0,[8,50,87,114,135,154],{"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":21,"studyType":22,"phases":4,"briefSummary":23,"conditions":24,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":38,"lastUpdatePostDateStruct":39,"startDateStruct":42,"completionDateStruct":44,"leadSponsor":46,"locationsCount":49},"100544886","witnness---tnnt1-myopathy-natural-history-study-100544886",false,"NCT06374719","WiTNNess - TNNT1 Myopathy Natural History Study","WiTNNess: An International Natural History Study of Autosomal Recessive TNNT1 Myopathy","WiTNNess","Inclusion Criteria:\n\n* Diagnosed with biallelic pathogenic variants of TNNT1\n* Infantile-onset or childhood-onset proximal weakness without confounding medical conditions that could effect muscle health.\n\nExclusion Criteria:\n\n* Another known or suspected medical condition (genetic or acquired) that could potentially alter the natural disease course or otherwise interfere with completion of study procedures.","ALL",{"count":19,"type":20},40,"ESTIMATED","3 Years","OBSERVATIONAL","WiTNNess is designed to accurately document the natural course and variation of muscle disease caused by pathogenic changes of the TNNT1 gene. The primary aim of the study is to specify meaningful outcome measures for future clinical trials. WiTNNess is open to children and adults worldwide. Participants can choose to include their information once (cross-sectional cohort) or every few months (prospective cohort).",[25,26,27,28,29,30,31,32,33,34,35,36],"TNNT1-associated Myopathy","Infantile-onset Nemaline Rod Myopathy","Myopathies, Nemaline","Myopathy","Myopathy, Rod","Myopathy; Hereditary","Amish Nemaline Myopathy","Nemaline Myopathy 5","NEM5","Genetic Muscle Disease","Recessive Hereditary Disorder (Autosomal)","ANM","RECRUITING","2026-06-19",{"date":40,"type":41},"2026-06-23","ACTUAL",{"date":43,"type":41},"2018-09-23",{"date":45,"type":20},"2027-06-01",{"name":47,"class":48},"Clinic for Special Children","OTHER",1,{"id":51,"slug":52,"hasResults":11,"nctId":53,"briefTitle":54,"officialTitle":55,"acronym":4,"eligibilityCriteria":56,"healthyVolunteers":57,"sex":17,"minAge":58,"maxAge":59,"enrollmentInfo":60,"targetDuration":62,"studyType":22,"phases":4,"briefSummary":63,"conditions":64,"keywords":71,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":78,"lastUpdatePostDateStruct":79,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":49},"100631615","muscle-health-measurements-using-electrical-impedance-myography-100631615","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,"18 Years","89 Years",{"count":61,"type":20},150,"1 Day","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.",[28,65,66,67,68,69,70],"Muscular Dystrophies","Myositis","Myofibrillar Myopathy","Congenital Myopathy","Distal Myopathy","Myopathies",[72,28,73,74,75,76,77],"Muscle Health","Device","Healthy control","MRI","Electrical Impedance Myography","EIM","2026-03-30",{"date":80,"type":41},"2026-04-03",{"date":82,"type":41},"2025-04-09",{"date":84,"type":20},"2027-09",{"name":86,"class":48},"Beth Israel Deaconess Medical Center",{"id":88,"slug":89,"hasResults":11,"nctId":90,"briefTitle":91,"officialTitle":92,"acronym":4,"eligibilityCriteria":93,"healthyVolunteers":57,"sex":17,"minAge":58,"maxAge":4,"enrollmentInfo":94,"targetDuration":4,"studyType":22,"phases":4,"briefSummary":96,"conditions":97,"keywords":101,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":105,"lastUpdatePostDateStruct":106,"startDateStruct":108,"completionDateStruct":110,"leadSponsor":112,"locationsCount":49},"100159845","characterization-of-inclusion-body-myopathy-associated-with-pagets-disease-of-bone-and-frontotemporal-dementia-ibmpfd-100159845","NCT01353430","Characterization of Inclusion Body Myopathy Associated With Paget's Disease of Bone and Frontotemporal Dementia (IBMPFD)","Characterization of Familial Myopathy and Paget Disease of Bone","Inclusion Criteria:\n\n* Inclusion criteria include all individuals with a combination of medical problems including muscle and bone disease and their family members. Because historically VCP related muscle disease has been erroneously diagnosed with the following diagnoses, therefore if these patients also have a personal or family history of bone disease they will be considered eligible for the study:\n\nMuscle disorders considered include:\n\n* Limb Girdle Muscular Dystrophy\n* Myopathy\n* Inclusion body myopathy\n* FSH (Facioscapular muscular dystrophy) without the mutation\n* Scapuloperoneal muscular dystrophy\n* Amyotrophic Lateral Sclerosis\n* Non specific muscular dystrophy\n\nAND\n\n* Bone disorders including:\n\n  * Paget disease of bone\n  * Fibrous dysplasia\n  * Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH)\n  * Non-specific bone disease\n\nEligible participants must also be:\n\n* Subjects must to 18 years or older\n* Subjects must to able to give consent\n* Adult family members or spouses over the age of 18 of the affected individuals\n\nExclusion Criteria:\n\n* Under the age of 18.\n\nIndividuals who report a different unrelated diagnosis will be excluded from the study. Testing to confirm different diagnoses will not be performed, instead patient will be questioned for this information and records will be obtained for confirmation of appropriate testing.\n\nThose who are unable to provide consent for themselves will be excluded from participating in the study.",{"count":95,"type":20},50,"The investigators are researching families with inherited inclusion body myopathy (IBM) and\u002For Paget disease of bone (PDB) and\u002For dementia (FTD) which is also called IBMPFD. IBMPFD is caused by mutations in the VCP gene. Our main goal is to understand how changes in the VCP gene cause the muscle, bone and cognitive problems associated with the disease.\n\nThe investigators are collecting biological specimen such as blood and urine samples, family and medical histories, questionnaire data of patients with a personal or family history of VCP associated disease. Participants do not need to have all symptoms listed above in order to qualify. A select group of participants may be invited to travel to University of California, Irvine for a two day program of local procedures such as an MRI and bone scan.\n\nSamples are coded to maintain confidentiality. Travel is not necessary except for families invited for additional testing.",[98,99,100,28],"Inclusion Body Myopathy With Early-onset Paget Disease and Frontotemporal Dementia","Paget Disease of Bone","Frontotemporal Dementia",[102,103,104],"IBMPFD - Inclusion Body Myopathy associated with","Paget's disease of bone and Frontotemporal Dementia","VCP gene - Valosin-containing protein gene","2025-06-13",{"date":107,"type":41},"2025-06-18",{"date":109,"type":41},"2007-11-15",{"date":111,"type":20},"2030-12",{"name":113,"class":48},"University of California, Irvine",{"id":115,"slug":116,"hasResults":11,"nctId":117,"briefTitle":118,"officialTitle":118,"acronym":4,"eligibilityCriteria":119,"healthyVolunteers":11,"sex":17,"minAge":58,"maxAge":4,"enrollmentInfo":120,"targetDuration":4,"studyType":121,"phases":122,"briefSummary":124,"conditions":125,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":126,"lastUpdatePostDateStruct":127,"startDateStruct":129,"completionDateStruct":131,"leadSponsor":133,"locationsCount":49},"100485322","repeated-bout-effect-i-neuromuscular-diseases-100485322","NCT05599568","Repeated Bout Effect i Neuromuscular Diseases","Inclusion Criteria:\n\n* Age \\> 18 years\n* The ability to complete the exercise challenge\n* No concurrent medical condition that could interfere with interpretation of the results\n* Molecular diagnosis of the specific condition in specified patient groups or healthy control\n* No active muscle injury on the test day (caused by recent exercise, seizures, trauma, etc.)\n\nExclusion Criteria:\n\n* Cardiac or pulmonary disease contraindicating peak exercise testing or strenuous exercise defined as NYHA-class III-IV\n* Veins that are too difficult to puncture for blood sampling, evaluated by the investigator\n* Severe muscle weakness, that prevents the subject completing the exercise test, evaluated by the investigator",{"count":95,"type":20},"INTERVENTIONAL",[123],"NA","The repeated bout effect (RBE) refers to the adaptation whereby a single bout of eccentric exercise protects against muscle damage from subsequent eccentric bouts. This effect has been shown in many muscle groups using both serum biomarkers, muscle soreness and imaging techniques. Though the effect is well described in healthy, it has never been studied in patients with neuromuscular diseases (NMDs).\n\nIn healthy, the RBE is only described using eccentric exercise, but unlike healthy persons, patients with NMDs can experience significant muscle damage with concentric exercise. This raises the question, if patients with NMDs could also show RBE when performing concentric exercise.",[28],"2025-04-02",{"date":128,"type":41},"2025-04-06",{"date":130,"type":41},"2022-05-15",{"date":132,"type":20},"2026-05-30",{"name":134,"class":48},"Mads Peter Godtfeldt Stemmerik",{"id":136,"slug":137,"hasResults":11,"nctId":138,"briefTitle":139,"officialTitle":139,"acronym":4,"eligibilityCriteria":140,"healthyVolunteers":11,"sex":17,"minAge":58,"maxAge":141,"enrollmentInfo":142,"targetDuration":4,"studyType":121,"phases":143,"briefSummary":144,"conditions":145,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":147,"startDateStruct":149,"completionDateStruct":151,"leadSponsor":152,"locationsCount":49},"100414593","chronic-transcranial-direct-current-stimulation-in-patients-with-systemic-autoimmune-myopathies-100414593","NCT04678635","Chronic Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies","Inclusion Criteria:\n\n* Classification criteria - EULAR\u002FACR 2017\n* Classification critera - Connors et al.\n\nExclusion Criteria:\n\n* Neoplasia\n* Using heart pacemarker\n* Using visceral metalic clips\n* Infections (HIV, HTLV-1, Hepatitis, etc)\n* Pregnance\n* Previous historical of convulsions or epilepsies","70 Years",{"count":19,"type":20},[123],"Systemic autoimmune myopathies are rheumatic diseases that affect the striatum skeletal muscles. The transcranial direct current stimulation technique has been frequent, for example, in patients with ischemic stroke or for the optimization of muscular performance in athletes. However, to date, there are no studies evaluating this technique in patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, double-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of chronic transcranial direct current stimulation sessions - associated with aerobic exercises - in the patients with systemic autoimmune myopathies.",[28],"2024-12-04",{"date":148,"type":41},"2024-12-09",{"date":150,"type":41},"2020-12-12",{"date":146,"type":20},{"name":153,"class":48},"University of Sao Paulo",{"id":155,"slug":156,"hasResults":11,"nctId":157,"briefTitle":158,"officialTitle":158,"acronym":4,"eligibilityCriteria":159,"healthyVolunteers":11,"sex":17,"minAge":58,"maxAge":160,"enrollmentInfo":161,"targetDuration":4,"studyType":121,"phases":162,"briefSummary":163,"conditions":164,"keywords":4,"overallStatus":37,"whyStopped":4,"lastUpdateSubmitDate":146,"lastUpdatePostDateStruct":167,"startDateStruct":169,"completionDateStruct":171,"leadSponsor":172,"locationsCount":49},"100343276","acute-transcranial-direct-current-stimulation-in-patients-with-systemic-autoimmune-myopathies-100343276","NCT03749538","Acute Transcranial Direct Current Stimulation in Patients With Systemic Autoimmune Myopathies","Inclusion Criteria:\n\n* Classification criteria - EULAR\u002FACR 2017\n* Classification critera - Connors et al.\n* Objective muscle limb weakness\n\nExclusion Criteria:\n\n* Neoplasia\n* Using heart pacemarker\n* Using visceral metalic clips\n* Infections (HIV, HTLV-1, Hepatitis, etc)\n* Pregnance\n* Previous historical of convulsions or epilepsies","80 Years",{"count":19,"type":20},[123],"Systemic autoimmune myopathies are a heterogeneous group of rheumatic diseases that primarily affect the skeletal muscles. The transcranial direct current stimulation technique has been frequent, for example, in patients with ischemic stroke or for the optimization of muscular performance in athletes. However, to date, there are no studies evaluating this technique in patients with systemic autoimmune myopathies. Therefore, the main objective of the present prospective, randomized, double-blind, placebo-controlled study is to evaluate the safety and efficacy of the application of acute transcranial current stimulation session in patients with systemic autoimmune myopathies.",[28,165,166],"Neurologic Manifestations","ElectroPhys: Myopathy",{"date":168,"type":41},"2024-12-05",{"date":170,"type":41},"2018-10-01",{"date":146,"type":20},{"name":153,"class":48}]