Actively Recruiting
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Led by Università Vita-Salute San Raffaele · Updated on 2025-08-15
45
Participants Needed
1
Research Sites
143 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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 do this relate to age and muscular phenotype? * What is the extent of respiratory, nutritional, skeletal, and cognitive/brain involvement, particularly in adults with more severe vs less severe phenotypes? * How does quality of life and transition to adulthood occur in individuals with LAMA2-RD? * Which nomenclature best reflects differences in disease severity and may support future clinical trial design? Study participants will: * Undergo retrospective and prospective clinical assessments every 12 months for 2 years across multiple centers. * A subset of adult participants (n=20) will receive cardiac MRI with contrast enhancement. * Provide biological samples during routine blood testing for future research.
CONDITIONS
Official Title
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of LAMA2-related dystrophy confirmed by either two causative mutations in the LAMA2 gene or muscle biopsy showing absence of merosin (laminin-211) with at least one causative mutation in the LAMA2 gene
- Consistent clinical symptoms and affected siblings meeting genetic or biopsy criteria
- Ability to attend study visits every 12 months for 24 months
- Ability to provide informed consent (adults) or parental/legal guardian consent (children)
You will not qualify if you...
- No confirmed diagnosis of LAMA2-related dystrophy
- Inability to participate in study visits at least once every 12 months
- Medical fragility that prevents safe travel or participation in study assessments
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Irccs Ospedale San Raffaele
Milan, Italy, 20132
Actively Recruiting
Research Team
A
Alberto A Zambon, MD, PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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