[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"merosin-deficient-congenital-muscular-dystrophy\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:merosin-deficient-congenital-muscular-dystrophy":95},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,3,0,[8,42,71],{"id":9,"slug":4,"hasResults":10,"nctId":11,"briefTitle":12,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":10,"sex":15,"minAge":4,"maxAge":4,"enrollmentInfo":16,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":20,"conditions":21,"keywords":26,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"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":17,"type":18},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.",[22,23,24,25],"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",[27,28],"LAMA2-RD","Natural history","RECRUITING","2025-08-07",{"date":32,"type":33},"2025-08-15","ACTUAL",{"date":35,"type":33},"2025-07-31",{"date":37,"type":18},"2028-05",{"name":39,"class":40},"Università Vita-Salute San Raffaele","OTHER",1,{"id":43,"slug":4,"hasResults":10,"nctId":44,"briefTitle":45,"officialTitle":45,"acronym":4,"eligibilityCriteria":46,"healthyVolunteers":10,"sex":15,"minAge":47,"maxAge":48,"enrollmentInfo":49,"targetDuration":51,"studyType":19,"phases":4,"briefSummary":52,"conditions":53,"keywords":56,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":62,"lastUpdatePostDateStruct":63,"startDateStruct":65,"completionDateStruct":67,"leadSponsor":69,"locationsCount":41},"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":50,"type":18},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.",[22,24,25,54,55],"Muscular Dystrophies","Cohort Studies",[57,58,59,60,61],"Merosin","LAMA2","Laminin","Dystrophy","natural history","2025-04-05",{"date":64,"type":33},"2025-04-11",{"date":66,"type":33},"2021-07-27",{"date":68,"type":18},"2030-07-01",{"name":70,"class":40},"Hospital Universitari Vall d'Hebron Research Institute",{"id":72,"slug":4,"hasResults":10,"nctId":73,"briefTitle":74,"officialTitle":75,"acronym":58,"eligibilityCriteria":76,"healthyVolunteers":10,"sex":15,"minAge":77,"maxAge":78,"enrollmentInfo":79,"targetDuration":4,"studyType":19,"phases":4,"briefSummary":81,"conditions":82,"keywords":83,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":85,"lastUpdatePostDateStruct":86,"startDateStruct":88,"completionDateStruct":90,"leadSponsor":92,"locationsCount":94},"100543355","NCT06354790","Natural History Study of Children With LAMA2-related Dystrophies","A Prospective, Longitudinal, Interventional Natural History Study of Children With LAMA2-related Dystrophies","Inclusion Criteria:\n\n* Signed informed consent by the Legal Authority Responsible and\u002For assent by the subject (starting from 6 years old)\n* Subject must be\n* Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by:\n\n  * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or\n  * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene\n* Absence of another confirmed neurological genetic disease\n* Willingness to maintain current exercise and\u002For physical therapy regimen for the duration of the clinical study\n* Willingness to comply with the study protocol, including all the mandatory study procedures and visits\n* Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme\n\nExclusion Criteria:\n\n* Developmental quotient less than 70 and\u002For behavioral disorder requiring general anesthesia to perform an MRI\n* Acute medical illness or hospitalization within 30 days prior to informed consent\n* Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study\n* Other significant medical condition and\u002For overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD\n* Pregnant or breastfeeding women","2 Years","15 Years",{"count":80,"type":18},40,"The goal of this natural history study is to characterize the disease course, characteristics in paediatric population of LAMA2-RD (related dystrophies) patients.\n\nThe aim of the study is to establish a well-described cohort of patients in France with LAMA2-RD for prospective follow-up and recruitment for future clinical trials.\n\nParticipants will be follow up during a two years period regarding exhaustive aspects of the pathology:\n\n* Muscular function\n* Respiratory function\n* Cognitive phenotyping\n* Quality of life\n* Growth parameters\n* Biomarkers",[25],[58,84,28],"Congenital Muscular Dystrophy","2024-12-09",{"date":87,"type":33},"2024-12-12",{"date":89,"type":33},"2024-12-05",{"date":91,"type":18},"2027-12-31",{"name":93,"class":40},"Institut de Myologie, France",4,""]