Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers
Università Vita-Salute San Raffaele
45 participants
Jul 31, 2025
OBSERVATIONAL
Conditions
Summary
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.
Eligibility
Inclusion Criteria11
- INCLUSION
- Diagnosis of LAMA2-related dystrophy confirmed via:
- Two causative mutations in the LAMA2 gene or Muscle biopsy with absence of
- 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
- Ability to participate in study visits at least every 12 months during a 24 months period.
- Ability to sign informed consent for adults or parents/ legal tutors for children
- EXCLUSION
- Lack of a confirmed diagnosis of LAMA2-relate dystrophy
- Inability to participate in study visits at least every 12 months
- Medical fragility which precludes the ability to safely travel to the study site and/or participate in the study assessments
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Interventions
On a subset of adult patients
Locations(1)
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NCT07125040