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Spanish Natural History Study for LAMA2 Muscular Dystrophy

Spanish Natural History Study for LAMA2 Muscular Dystrophy

Recruiting
100 years and younger
All
Phase N/A
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  • Simplified (AI rewritten)

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Overview

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.

Eligibility

Inclusion Criteria:

  • 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
  • Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)

Study details
    LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy
    MDC1A)
    Merosin Deficient CMD (Full or Partial)
    Merosin Deficient Congenital Muscular Dystrophy
    Muscular Dystrophies
    Cohort Studies

NCT06924125

Hospital Universitari Vall d'Hebron Research Institute

19 April 2025

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