Clinical Research Directory

Inclusion Criteria: * Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old) * Subject must be * Supportive clinical phenotype and diagnosis of LAMA2-RD, confirmed by: * Two pathogenic variants in the LAMA2 gene (via a diagnostic laboratory included on an approved list of genetic testing laboratories (Annex 1)) or * Muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene * Absence of another confirmed neurological genetic disease * Willingness to maintain current exercise and/or physical therapy regimen for the duration of the clinical study * Willingness to comply with the study protocol, including all the mandatory study procedures and visits * Affiliated to or a beneficiary of a French or acknowledged in France, social security scheme Exclusion Criteria: * Developmental quotient less than 70 and/or behavioral disorder requiring general anesthesia to perform an MRI * Acute medical illness or hospitalization within 30 days prior to informed consent * Participation in a previous trial of any investigational agent for LAMA2-RD, or use of any other investigational therapy within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 5 half-lives, whichever is longer) prior to informed consent, which, in the opinion of the PI, may potentially confound results from this study * Other significant medical condition and/or overall fragility of medical status, which in the opinion of the Investigator may confound interpretation of the clinical course of LAMA2-RD * Pregnant or breastfeeding women