Tracking movement and health in children 0–5 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)
This project will see how children aged 0–5 with LAMA2-related dystrophy move, breathe, and develop over two years to help find reliable outcome measures for future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 44 (estimated) |
| Ages | N/A to 5 Years |
| Sex | All |
| Sponsor | Nationwide Children's Hospital Academic / other |
| Locations | 14 sites (Los Angeles, California and 13 other locations) |
| Trial ID | NCT06503367 on ClinicalTrials.gov |
What this trial studies
READY CMD LAMA2 is a multicenter, prospective natural-history study enrolling up to 44 children from birth to under 5 years with genetically confirmed LAMA2-related dystrophy, with Nationwide Children’s Hospital planning to enroll 10 participants. Participants complete in-person visits at baseline, months 6, 12, 18, and 24, with additional remote visits at months 3 and 9 and remote comparisons around baseline, month 12, and month 24. Assessments include motor milestone tracking and standardized motor scales (CHOP-INTEND, MFM-20, Bayley-4), neuromuscular exams, respiratory and swallowing evaluations, blood collections, and caregiver questionnaires. The study follows each child for up to 24 months and captures adverse events every three months.
Who should consider this trial
Good fit: Children from birth to under 5 years with genetically confirmed LAMA2-related dystrophy (two pathogenic LAMA2 variants or absence of merosin plus at least one LAMA2 variant), without another confirmed genetic disease, whose caregivers can attend scheduled in-person and remote visits.
Not a fit: Children who are acutely ill or recently hospitalized, have a different confirmed genetic condition, or cannot commit to the required in-person and remote visits are unlikely to receive benefit from participation.
Why it matters
Potential benefit: If successful, the study could improve understanding of early disease progression and provide validated outcome measures that make future treatment trials faster and more reliable.
How similar studies have performed: Natural-history studies in other pediatric neuromuscular disorders have successfully defined outcome measures and guided clinical trials, so this approach has strong precedent.
Eligibility criteria
Show full inclusion / exclusion 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.
Where this trial is running
Los Angeles, California and 13 other locations
- University of California, Los Angeles — Los Angeles, California, United States (Recruiting)
- Stanford University — Stanford, California, United States (Recruiting)
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States (Recruiting)
- University of Iowa Stead Family Children's Hospital — Iowa City, Iowa, United States (Recruiting)
- National Institute of Neurological Disorders and Stroke, NIH — Bethesda, Maryland, United States (Recruiting)
- Boston Children's Hospital — Boston, Massachusetts, United States (Recruiting)
- University of Minnesota — Saint Paul, Minnesota, United States (Recruiting)
- Washington University in St. Louis — St Louis, Missouri, United States (Recruiting)
- University of Rochester — Rochester, New York, United States (Recruiting)
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (Recruiting)
- Nationwide Children's Hospital — Columbus, Ohio, United States (Recruiting)
- Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (Recruiting)
- University of Texas Southwestern — Dallas, Texas, United States (Recruiting)
- University of Utah — Salt Lake City, Utah, United States (Not_yet_recruiting)
Study contacts
- Principal investigator: Anne M Connolly, MD — Nationwide Childrens Hospital
- Study coordinator: Kevin Warf
- Email: ReadyCMDLAMA2@nationwidechildrens.org
- Phone: (614) 355-2765
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.