Spanish Natural History Study for LAMA2 Muscular Dystrophy

Spanish Natural History Study for LAMA2 Muscular Dystrophy

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.

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)