Observational Study for Patients with LAMA2 Aged 0-5 years old
Phase: Recruiting
First Posted: March
Condition(s): LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
Other Study ID Number(s): Ready CMD LAMA2
What Is the Purpose of This 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.
Who Can Take Part in This Study?
- Patient aged birth to less than 5.0 years of age at time of consent.
- A confirmed diagnosis of LAMA2-RD confirmed via:
- Two pathogenic variants in the LAMA2 gene (via a CLIA-approved laboratory)
- 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.
For a full list of eligibility requirements, visit https://clinicaltrials.gov/study/NCT06503367
What Will Happen During This Study?
- The total duration for each participant is up to 24 months
- In-clinic visits at baseline, month 6, month 12, month 18 and month 24
- Neuromuscular assessments
- Blood collections
- Swallowing and breathing assessments
- Questionnaires
Principal Investigator
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