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Observation Study in Patients Age 0-5 Years With LAMA2-related Congenital Muscular Dystrophy
Establishing Clinical Trial Readiness for Children 0-5 Years With Congenital Muscular Dystrophy Secondary to LAMA2 Mutations (READY CMD LAMA2)
Who can join
Up to age 5 · All sexes
Full eligibility criteria
Inclusion Criteria: * Signed informed consent by the subject, parent(s) or legally authorized representative (LAR) and/or assent by the subject (when applicable). * Subject must be aged birth to less than 5.0 years of age at time of consent. * A confirmed diagnosis of LAMA2-RD confirmed via: a: Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory) or: b. muscle biopsy with absence of merosin (laminin-211) and at least one pathogenic variant in the LAMA2 gene * Absence of another confirmed 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 but not limited to, all study procedures and visits. Exclusion Criteria: * Acute medical illness or hospitalization within 30 days prior to informed consent. * Participation in a previous trial of any investigational agent for LAMA2-RD within 1 month prior to informed consent, or use of any other investigational therapy (including off-label use of Losartan) within 30 days prior to informed consent, or participation in other clinical studies, within 30 days (or 3 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, which in the opinion of the site Principal Investigator may confound interpretation of the clinical course of LAMA2- RD.
About the study
The goal of this observational study is to understand how young children with LAMA2-related dystrophy move and change over time. We will also learn about how this condition impacts other body systems.
Participants will undergo:
* Neuromuscular assessments * Blood collections * Swallowing and breathing assessments * Questionnaires
Sponsor: Nationwide Children's Hospital · Participants: 44 · Started: May 12, 2025
Contact the study team
- Kevin Warf · Phone: (614) 355-2765
Official record on ClinicalTrials.gov — NCT06503367
Locations in the U.S.
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.