Clinical Trial

Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers

Recruiting
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Summary
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: * What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype? * What is the prevalence of peripheral neuropathy, and how do this relate to age and muscular phenotype? * What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes? * How does quality of life and transition to adulthood occur in individuals with LAMA2-RD? * Which nomenclature best reflects differences in disease severity and may support future clinical trial design? Study participants will: * Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers. * A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement. * Provide biological samples during routine blood testing for future research.
Trial Details
NCT Number NCT07125040
Lead Sponsor Università Vita-Salute San Raffaele
Conditions 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
Enrollment 45 participants
Start Date 2025-07-31
Primary Completion 2027-05 (estimated)
Study Completion 2028-05 (estimated)
Updated on ClinicalTrials.gov 2025-08-15