[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"merosin-deficient-cmd-full-or-partial\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:merosin-deficient-cmd-full-or-partial":25},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,43,73],{"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":27,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":31,"lastUpdatePostDateStruct":32,"startDateStruct":35,"completionDateStruct":37,"leadSponsor":39,"locationsCount":42},"100602555","characterization-of-the-natural-history-of-lama2-rd-and-identification-of-novel-disease-biomarkers-100602555",false,"NCT07125040","Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers","Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers","INCLUSION\n\nDiagnosis of LAMA2-related dystrophy confirmed via:\n\n1. Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of\n2. merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or\n\n   * Consistent phenotype and affected siblings with criteria a) or b) and\n   * Ability to participate in study visits at least every 12 months during a 24 months period.\n   * Ability to sign informed consent for adults or parents\u002F legal tutors for children\n\nEXCLUSION\n\n* Lack of a confirmed diagnosis of LAMA2-relate dystrophy\n* Inability to participate in study visits at least every 12 months\n* Medical fragility which precludes the ability to safely travel to the study site and\u002For participate in the study assessments","ALL",{"count":18,"type":19},45,"ESTIMATED","OBSERVATIONAL","The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:\n\n* What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype?\n* What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype?\n* What is the extent of respiratory, nutritional, skeletal, and cognitive\u002Fbrain involvement, particularly in adults with more severe vs less severe phenotypes?\n* How does quality of life and transition to adulthood occur in individuals with LAMA2-RD?\n* Which nomenclature best reflects differences in disease severity and may support future clinical trial design?\n\nStudy participants will:\n\n* Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers.\n* A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement.\n* Provide biological samples during routine blood testing for future research.",[23,24,25,26],"LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)","LAMA2-MD \\(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\\)","Merosin Deficient CMD (Full or Partial)","Merosin Deficient Congenital Muscular Dystrophy",[28,29],"LAMA2-RD","Natural history","RECRUITING","2025-08-07",{"date":33,"type":34},"2025-08-15","ACTUAL",{"date":36,"type":34},"2025-07-31",{"date":38,"type":19},"2028-05",{"name":40,"class":41},"Università Vita-Salute San Raffaele","OTHER",1,{"id":44,"slug":45,"hasResults":11,"nctId":46,"briefTitle":47,"officialTitle":47,"acronym":4,"eligibilityCriteria":48,"healthyVolunteers":11,"sex":16,"minAge":49,"maxAge":50,"enrollmentInfo":51,"targetDuration":53,"studyType":20,"phases":4,"briefSummary":54,"conditions":55,"keywords":58,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":64,"lastUpdatePostDateStruct":65,"startDateStruct":67,"completionDateStruct":69,"leadSponsor":71,"locationsCount":42},"100587110","spanish-natural-history-study-for-lama2-muscular-dystrophy-100587110","NCT06924125","Spanish Natural History Study for LAMA2 Muscular Dystrophy","Inclusion Criteria:\n\n* All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)","0 Minutes","100 Years",{"count":52,"type":19},100,"5 Years","The objective of this natural history study is to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies (LAMA2-RD) in the pediatric population. 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.",[23,25,26,56,57],"Muscular Dystrophies","Cohort Studies",[59,60,61,62,63],"Merosin","LAMA2","Laminin","Dystrophy","natural history","2025-04-05",{"date":66,"type":34},"2025-04-11",{"date":68,"type":34},"2021-07-27",{"date":70,"type":19},"2030-07-01",{"name":72,"class":41},"Hospital Universitari Vall d'Hebron Research Institute",{"id":74,"slug":75,"hasResults":11,"nctId":76,"briefTitle":77,"officialTitle":78,"acronym":79,"eligibilityCriteria":80,"healthyVolunteers":11,"sex":16,"minAge":4,"maxAge":4,"enrollmentInfo":81,"targetDuration":83,"studyType":20,"phases":4,"briefSummary":84,"conditions":85,"keywords":137,"overallStatus":30,"whyStopped":4,"lastUpdateSubmitDate":142,"lastUpdatePostDateStruct":143,"startDateStruct":145,"completionDateStruct":147,"leadSponsor":149,"locationsCount":42},"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":82,"type":19},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.",[86,87,88,89,90,91,92,93,94,95,96,97,98,99,100,101,102,103,104,105,106,107,108,109,110,111,112,25,113,114,115,116,117,118,119,120,121,122,123,124,125,126,127,128,129,130,131,132,133,134,135,136],"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","Nesprin Related MD (SYNE1)","SELENON Related Disorders (Previously Known as SEPN1)","SELENON Related Myopathy (Aka SEPN1)","Telethonin CMD","Congenital Myasthenic Syndrome","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",[138,139,140,141],"Congenital Muscular Dystrophy","Congenital Myopathy","Neuromuscular Diseases","Musculoskeletal Diseases","2021-08-03",{"date":144,"type":34},"2021-08-09",{"date":146,"type":34},"2009-09",{"date":148,"type":19},"2029-09",{"name":150,"class":41},"Cure CMD"]