[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100602555":3},{"organization":4,"armGroups":7,"interventions":8,"overallOfficials":7,"centralContacts":12,"locations":18,"responsibleParty":34,"collaborators":7,"id":38,"slug":39,"hasResults":40,"nctId":41,"briefTitle":42,"officialTitle":43,"acronym":7,"eligibilityCriteria":44,"healthyVolunteers":40,"sex":45,"minAge":7,"maxAge":7,"enrollmentInfo":46,"targetDuration":7,"studyType":49,"phases":7,"briefSummary":50,"conditions":51,"keywords":56,"overallStatus":21,"whyStopped":7,"lastUpdateSubmitDate":59,"lastUpdatePostDateStruct":60,"startDateStruct":63,"completionDateStruct":65,"leadSponsor":67,"locationsCount":68},{"fullName":5,"class":6},"Università Vita-Salute San Raffaele","OTHER",null,[9],{"type":6,"name":10,"description":11,"armGroupLabels":7,"otherNames":7},"Cardiac MRI","On a subset of adult patients",[13],{"name":14,"role":15,"phone":16,"phoneExt":7,"email":17},"Alberto A Zambon, MD, PhD","CONTACT","+390226435080","neuromuscolare@hsr.it",[19],{"facility":20,"status":21,"city":22,"state":7,"zip":23,"country":24,"countryCode":25,"cosmosGeoPoint":26,"geoPoint":31,"contacts":32},"Irccs Ospedale San Raffaele","RECRUITING","Milan","20132","Italy","IT",{"type":27,"coordinates":28},"Point",[29,30],9.18951,45.46427,{"lat":30,"lon":29},[33],{"name":14,"role":15,"phone":16,"phoneExt":7,"email":17},{"type":35,"investigatorFullName":36,"investigatorTitle":37,"investigatorAffiliation":5,"oldNameTitle":7,"oldOrganization":7},"PRINCIPAL_INVESTIGATOR","Alberto Andrea Zambon","MD, PhD - Principal Investigator","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":47,"type":48},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.",[52,53,54,55],"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",[57,58],"LAMA2-RD","Natural history","2025-08-07",{"date":61,"type":62},"2025-08-15","ACTUAL",{"date":64,"type":62},"2025-07-31",{"date":66,"type":48},"2028-05",{"name":5,"class":6},1]