Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Recruiting
Observational Study
LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
Merosin Deficient CMD (Full or Partial)
Merosin Deficient Congenital Muscular Dystrophy
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 45 (estimated)
- Sponsor
- Università Vita-Salute San Raffaele · Other
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About This Trial
The goal of this observational study is to learn about the natural history and multi-organ involvement of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) in pediatric and adult patients. The main questions it aims to answer are:
* What is the prevalence and nature of cardiac involvement, and how do this relate to age and muscular phenotype?
* What is the prevalence of peripheral neuropathy, and how …
Trial Locations
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Eligibility Criteria
INCLUSION
Diagnosis of LAMA2-related dystrophy confirmed via:
1. Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of
2. merosin (laminin-211) and at least one causative mutation in the LAMA2 gene or
* Consistent phenotype and affected siblings with criteria a) or b) and
…
Contacts