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

StatusRecruiting
PhaseNot specified
Started
View on ClinicalTrials.gov ↗

Record History

  1. Minor Study First Submitted
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
(from sponsor)
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
Related terms Muscular dystrophy congenital, merosin negative
Enrollment 45 participants
Start Date
Primary Completion (estimated)
Study Completion (estimated)
Updated on ClinicalTrials.gov