[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"congenital-myasthenic-syndrome\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:congenital-myasthenic-syndrome":27},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,4,0,[8,41,64,92],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":11,"sex":17,"minAge":18,"maxAge":4,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":4},"100650264","phase-3-a-study-to-assess-efficacy-and-safety-of-adimanebart-in-adult-and-pediatric-participants-with-dok7-musk--agrn--or-lrp4--congenital-myasthenic-syndromes-cms-100650264",false,"NCT07746089","A Study to Assess Efficacy and Safety of Adimanebart in Adult and Pediatric Participants With DOK7-,MUSK-, AGRN-, or LRP4- Congenital Myasthenic Syndromes (CMS)","Phase 3, Multicenter, Randomized, Double-Blinded, Placebo-Controlled Study With an Open-Label Extension to Evaluate the Efficacy and Safety of Intravenous Adimanebart in Adult and Pediatric Participants With DOK7-,MUSK-, AGRN-, or LRP4-CMS","CoMetS","Inclusion Criteria:\n\nDBTP:\n\n* At least 12 years of age.\n* Has a diagnosis of DOK7-, MUSK-, AGRN-, or LRP4-CMS with documented mutations.\n* Participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine) or other CMS medication must have been receiving the medication for at least 6 months and agree to remain on a same stable dosing regimen of the same medication unless directed to change their CMS medication(s) by their treating physician.\n\nOLE:\n\n* Completed part of the active-treatment period of ARGX-119-2302.\n\nExclusion Criteria:\n\nDBTP:\n\n* Known medical condition that would interfere with an accurate assessment of CMS, confound the results of the study, or put the patient at undue risk, as assessed by the investigator.\n\nOLE:\n\n* Investigational study drug discontinuation in ARGX-119-2302.","ALL","12 Years",{"count":20,"type":21},105,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","The purpose of this study is to assess efficacy and safety of adimanebart in participants at least 12 years of age with DOK7-, MUSK-, AGRN-, or LRP4- Congenital Myasthenic Syndromes (CMS). The study aims to determine whether adimanebart is safe and can help people with CMS feel better and perform daily activities more easily.\n\nThe study includes a double-blinded treatment period (DBTP) and an Open- label extension period (OLE). In the DBTP, all participants will be randomized in a 1:1 ratio to adimanebart or placebo. Participants who complete the DBTP will continue to the OLE.\n\nAdditionally, participants who complete part of the active-treatment period of ARGX-119-2302 study are eligible to enroll in the OLE of this study. In the OLE, all participants will receive open-label adimanebart. After final IMP dose, the participants will enter a follow-up period and their health will be monitored.\n\nThe total duration of the study is up to approximately 152 weeks (2 years and 11 months).\n\nMore information can be found here: clinicaltrials.argenx.com\u002FComets",[27,28],"Congenital Myasthenic Syndrome","CMS","NOT_YET_RECRUITING","2026-07-30",{"date":32,"type":33},"2026-08-04","ACTUAL",{"date":35,"type":21},"2026-09",{"date":37,"type":21},"2030-10",{"name":39,"class":40},"argenx","INDUSTRY",{"id":42,"slug":43,"hasResults":11,"nctId":44,"briefTitle":45,"officialTitle":46,"acronym":4,"eligibilityCriteria":47,"healthyVolunteers":11,"sex":17,"minAge":48,"maxAge":4,"enrollmentInfo":49,"targetDuration":4,"studyType":51,"phases":4,"briefSummary":52,"conditions":53,"keywords":4,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":55,"lastUpdatePostDateStruct":56,"startDateStruct":58,"completionDateStruct":60,"leadSponsor":62,"locationsCount":63},"100522125","a-natural-history-study-in-participants-with-congenital-myasthenic-syndromes-cms-due-to-mutations-in-dok7-musk-agrn-or-lrp4-100522125","NCT06078553","A Natural History Study in Participants With Congenital Myasthenic Syndromes (CMS) Due to Mutations in DOK7, MUSK, AGRN, or LRP4","Multicenter, Multinational, Natural History Study in Participants With Congenital Myasthenic Syndromes Due to Mutations in DOK7, MUSK, AGRN, or LRP4","Inclusion Criteria:\n\n* Can understand the requirements of the study and can provide written informed consent\u002Fassent, and willingness and ability to comply with the study protocol procedures\n* Is male or female and aged ≥2 years at the time of providing informed consent\u002Fassent\n* Has a diagnosis of CMS due to biallelic pathogenic mutations in DOK7 or any pathogenic mutations in MUSK, AGRN, or LRP4\n* Has a total Quantitative Myasthenia Gravis (QMG) score of ≥3 (applies only to participants aged ≥6 years)\n* For participants taking oral beta agonists (eg, albuterol, salbutamol, ephedrine), participant must have been receiving the medication for ≥3 months before screening\u002Fbaseline\n\nExclusion Criteria:\n\n* Known medical condition that would interfere with an accurate assessment of CMS, in the investigator's opinion\n* Is currently participating in any interventional clinical study with a study drug at the time of providing informed consent\u002Fassent\n* Diagnosis of CMS due to mutation of any gene other than DOK7, MUSK, AGRN, or LRP4","2 Years",{"count":50,"type":21},100,"OBSERVATIONAL","Participants will attend up to 4 study visits to collect clinical assessments. The assessments will evaluate participants' symptoms and quality of life to understand disease activity in patients with CMS due to mutations in DOK7, MUSK, AGRN, or LRP4.\n\nMore information can be found here: https:\u002F\u002Fclinicaltrials.argenx.com\u002Fcms",[27],"RECRUITING","2026-07-21",{"date":57,"type":33},"2026-07-22",{"date":59,"type":33},"2024-02-13",{"date":61,"type":21},"2027-06",{"name":39,"class":40},32,{"id":65,"slug":66,"hasResults":11,"nctId":67,"briefTitle":68,"officialTitle":69,"acronym":4,"eligibilityCriteria":70,"healthyVolunteers":11,"sex":17,"minAge":71,"maxAge":4,"enrollmentInfo":72,"targetDuration":4,"studyType":22,"phases":74,"briefSummary":76,"conditions":77,"keywords":78,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":81,"lastUpdatePostDateStruct":82,"startDateStruct":84,"completionDateStruct":86,"leadSponsor":88,"locationsCount":91},"100610372","phase-1-patients-with-congenital-myasthenic-syndrome-will-be-treated-with-mesenchymal-stem-cell-exosome-solution-100610372","NCT07226726","Patients With Congenital Myasthenic Syndrome Will be Treated With Mesenchymal Stem Cell Exosome Solution","Mesenchymal Stem Cell Exosome Treatment of Congenital Myasthenic Syndrome","Inclusion Criteria:\n\n* Patients will need a diagnosis of Congenital Myasthenic Syndrome by a licensed physician.\n* Patients must be able to provide informed consent, or have a guardian who does.\n* Patient must be able to travel to the site of treatment.\n\nExclusion Criteria:\n\n* Patients will be excluded from the trial if they are pregnant or have active cancer (malignancy) at the screening consultation.","18 Years",{"count":73,"type":21},20,[75],"PHASE1","Patients with Congenital Myasthenic Syndrome will be treated with Mesenchymal Stem Cell Exosome solution.",[27],[79,80,27],"exosomes","secretome","2025-11-06",{"date":83,"type":33},"2025-11-10",{"date":85,"type":33},"2025-01-01",{"date":87,"type":21},"2028-12-31",{"name":89,"class":90},"The Foundation for Orthopaedics and Regenerative Medicine","OTHER",3,{"id":93,"slug":94,"hasResults":11,"nctId":95,"briefTitle":96,"officialTitle":97,"acronym":98,"eligibilityCriteria":99,"healthyVolunteers":11,"sex":17,"minAge":4,"maxAge":4,"enrollmentInfo":100,"targetDuration":102,"studyType":51,"phases":4,"briefSummary":103,"conditions":104,"keywords":156,"overallStatus":54,"whyStopped":4,"lastUpdateSubmitDate":161,"lastUpdatePostDateStruct":162,"startDateStruct":164,"completionDateStruct":166,"leadSponsor":168,"locationsCount":170},"100163659","congenital-muscle-disease-study-of-patient-and-family-reported-medical-information-100163659","NCT01403402","Congenital Muscle Disease Study of Patient and Family Reported Medical Information","Congenital Muscle Disease Patient and Proxy Reported Outcome Study","CMDPROS","Inclusion Criteria:\n\nAlpha 7\u002FAlpha 9 Integrin Related Myopathy Collagen VI Related Myopathy (Ullrich through Bethlem CMD) Alpha-Dystroglycan Related Muscular Dystrophy (Dystroglycanopathy, WWS, MEB, Fukuyama, FKRP, LGMD2I, LGMD2K, LGMD2M, LGMD2N, LGMD2O) Choline Kinase B Receptor Emery-Dreifuss Muscular Dystrophy (EDMD, LGMD1B, LMNA, Emerin, FHL1, SYNE1, SYNE2, TMEM43) LAMA2 Related Muscular Dystrophy (Laminin Alpha 2 related dystrophy\u002FMDC1A\u002FMerosin deficient) LMNA Related Muscular Dystrophy (Laminopathy\u002FLaminA\u002FC, L-CMD, Emery Dreifuss muscular dystrophy) RYR1 Related Myopathy (with dystrophic presentation, including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) SEPN1 Related Myopathy (Rigid Spine Muscular Dystrophy\u002FRSMD1, Congenital Fiber Type Disproportion, Mallory Weiss Body Desmin, Multi-minicore Myopathy) SYNE1 (Nesprin Related Muscular Dystrophy) Telethonin Related Muscular Dystrophy (TCAP\u002FTitin-Cap) Congenital Muscular Dystrophy Not Otherwise Specified (including Merosin Positive) Titin Related LGMD\u002FCMD, LGMD2J Actin Aggregation Myopathy Cap Disease Central Core Disease (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Centronuclear Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Congenital Fiber Type Disproportion (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Core Rod Myopathy Hyaline Body Myopathy Multiminicore Myopathy Myotubular Myopathy Nemaline Myopathy Reducing Body Myopathy RYR1 Related Myopathy (including Malignant Hyperthermia, Exertional Myalgia with or without Rhabdomyolysis) Spheroid Body Myopathy Titin Related Myopathy, Titin Related Dialated Cardiomyopathy, LGMD2J Tubular Aggregate Myopathy Zebra Body Disease Myopathy Congenital Myopathy Not Otherwise Specified Congenital Myasthenic Syndrome Escobar Syndrome Myofibrillar Myopathy\n\nExclusion Criteria:\n\nCharcot Marie Tooth Duchenne\u002FBecker Muscular Dystrophy Facioscapulohumeral Dystrophy\u002FFSHD Kennedy's Disease LGMD-1A (TTID) LGMD-1C (CAV3, Caveloin 3, Caveolinopathy, LQT9, VIP21) LGMD-1D (7q) LGMD-1E (6q23) LGMD-1F (7q32.1-q32.2) LGMD-1G (4q21) LGMD-2A (CAPN3\u002FCalpainopathy) LGMD-2B (DYSF\u002FDysferlinopathy\u002FMiyoshi Myopathy) LGMD-2C (SGCG) LGMD-2D (SGCA) LGMD-2E (SGCB) LGMD-2F (SGCD) LGMD-2L (AN05\u002FAnoctamin 5) Lipodystrophy Myotonic Dystrophy Oculopharyngeal Muscular Dystrophy Spinal Muscular Atrophy",{"count":101,"type":21},4000,"20 Years","The Congenital Muscle Disease Patient and Proxy Reported Outcome Study (CMDPROS) is a longitudinal 10 year study to identify and trend care parameters, adverse events in the congenital muscle diseases using the Congenital Muscle Disease International Registry (CMDIR) to acquire necessary data for adverse event calculations (intake survey and medical records curation). To support this study and become a participant, we ask that you register in the CMDIR. You can do this by visiting www.cmdir.org. There is no travel required.\n\nThe registry includes affected individuals with congenital muscular dystrophy, congenital myopathy, and congenital myasthenic syndrome and registers through the late onset spectrum for these disease groups. The CMDIR was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual.\n\nRegistering in the CMDIR means that you will enter demographic information and complete an intake survey. We would then ask that you provide records regarding the diagnosis and treatment of CMD, including genetic testing, muscle biopsy, pulmonary function testing, sleep studies, clinic visit notes, and hospital discharge summaries.\n\nStudy hypothesis:\n\n1. To use patient and proxy reported survey answers and medical reports to build a longitudinal care and outcomes database across the congenital muscle diseases.\n2. To generate congenital muscle disease subtype specific adverse event rates and correlate with key care parameters.",[105,106,107,108,109,110,111,112,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136,27,137,138,139,140,141,142,143,144,145,146,147,148,149,150,151,152,153,154,155],"Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)","Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan and Epilepsy)","Alpha-Dystroglycanopathy (Dystroglycanopathy, Congenital With or Without Mental Retardation (Formerly MDC1C))","Alpha-Dystroglycanopathy (Fukuyama CMD)","Alpha-Dystroglycanopathy (LGMDR09 FKRP Related (Formerly LGMD2I))","Alpha-Dystroglycanopathy (LGMDR11 POMT1 Related (Formerly LGMD2K))","Alpha-Dystroglycanopathy (LGMDR13 FKTN Related (Formerly LGMD2M))","Alpha-Dystroglycanopathy (LGMDR14 POMT2 Related (Formerly LGMD2N))","Alpha-Dystroglycanopathy (LGMDR15 POMGnT1 Related (Formerly LGMD2O))","Alpha-Dystroglycanopathy (LGMDR19 GMPPB Related (Formerly LGMD2T))","Alpha-Dystroglycanopathy (LGMDR20 ISPD Related (Formerly LGMD2U))","Alpha-Dystroglycanopathy (LGMDR24 POMGnT2 Related)","Alpha-Dystroglycanopathy (Muscle Eye Brain Disease (MEB))","Alpha-Dystroglycanopathy (Walker Warburg Syndrome (WWS))","Choline Kinase B Receptor - CHKB","Collagen VI Related Disorders","Collagen XII Related Disorders","Congenital Muscular Dystrophy Not Otherwise Specified (Including Merosin Positive)","Congenital Muscular Dystrophy With Cataracts and Intellectual Disability (MDCCAID)","Congenital Muscular Dystrophy With Joint Hyperlaxity","Congenital Muscular Dystrophy With Rigid Spine Related to ACTA1","Emery-Dreifuss Muscular Dystrophy","GOLGA2-related Congenital Muscle Dystrophy With Brain Involvement","LMNA Related Disorders","Merosin Deficient CMD (Full or Partial)","Nesprin Related MD (SYNE1)","SELENON Related Disorders (Previously Known as SEPN1)","SELENON Related Myopathy (Aka SEPN1)","Telethonin CMD","Limb-Girdle Muscular Dystrophy","LGMDD01 - DNAJB6 (Formerly LGMD1D)","LGMDD05 - Collagen VI Related Bethlem Myopathy (Dominant)","LGMDR07 - Telethonin (TCAP) Related (Formerly LGMD2G)","LGMDR08 - TRIM Related (Formerly LGMD2H)","LGMDR09 - FKRP Related (Formerly LGMD2I)","LGMDR10 - Titin (TTN) Related (Formerly LGMD2J)","LGMDR11 - POMT1 Related (Formerly LGMD2K)","LGMDR13 - Fukutin (FKTN) Related (Formerly LGMD2M)","LGMDR14 - POMT2 Related (Formerly LGMD2N)","LGMDR15 - POMGnT1 Related (Formerly LGMD2O)","LGMDR16 - DAG1 Related Dystroglycanopathy (Formerly LGMD2P)","LGMDR17 - Plectin (PLEC) Related (Formerly LGMD2Q)","LGMDR18 - TRAPPC11 Related (Formerly LGMD2S)","LGMDR19 - GMPPB Related (Formerly LGMD2T)","LGMDR20 - ISPD Related (Formerly LGMD2U)","LGMDR22 - Collagen VI Related Bethlem Myopathy (Recessive)","LGMDR23 - LAMA2 Related","LGMDR24 - POMGnT2 Related",[157,158,159,160],"Congenital Muscular Dystrophy","Congenital Myopathy","Neuromuscular Diseases","Musculoskeletal Diseases","2021-08-03",{"date":163,"type":33},"2021-08-09",{"date":165,"type":33},"2009-09",{"date":167,"type":21},"2029-09",{"name":169,"class":90},"Cure CMD",1]