Spanish Natural History Study for LAMA2 Muscular Dystrophy

Launched by HOSPITAL UNIVERSITARI VALL D'HEBRON RESEARCH INSTITUTE · Apr 5, 2025

Keywords

ClinConnect Summary

The Spanish Natural History Study for LAMA2 Muscular Dystrophy is a research project aimed at understanding how LAMA2-related muscular dystrophies affect children over time. The study focuses on gathering detailed information about the disease's progression and symptoms in young patients with this condition. By creating a well-defined group of participants in Spain, the researchers hope to follow these patients for a long time and prepare for future clinical trials that may test new treatments.

To be eligible for this study, patients should show signs of the disease and have specific genetic markers linked to LAMA2. This includes having two harmful changes in the LAMA2 gene or a muscle biopsy that shows low levels of a certain protein along with at least one harmful genetic change. Participants, including children as young as six, will need permission from a parent or guardian to join. Throughout the study, participants can expect regular check-ups and assessments to monitor their condition, which will help improve knowledge and care for this rare muscular dystrophy.

Gender

ALL

Eligibility criteria

• 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)