🌐 EnglishEN

AI Cure is a research tool showing open data. Not medical advice. Discuss with your doctor. Terms

← Trials
🧪

Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers

Recruitingn/aAges any - anyAllUniversità Vita-Salute San Raffaele
NCT07125040 on ClinicalTrials.gov ↗
💬

In plain words

What the trial is, and whether it could suit you

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 ev

Sign in to get the eligibility rules as simple questions to take to your doctor.

Sign in
📋 Eligibility rules (as published)
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 * 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
💊

What it tests

  • Cardiac MRI
📍

Where

1 site
Irccs Ospedale San Raffaele
Milan, Italy
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
🛡️

AI Cure shows public evidence (Open Targets, ClinicalTrials.gov, PubMed, openFDA, DepMap, AlphaFold) with its source, and AI summaries that cite it — not medical advice and not a cure. Treatment decisions belong with your doctor. Research ideas are shared only with approved researchers and labs, who can test them. In an emergency call your local emergency number (112 in India and Europe, 911 in the US). AI Cure Terms of Use · Privacy