Natural history and biomarker mapping for LAMA2-related dystrophy
Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers
It will track how LAMA2-related dystrophy changes over time in children and adults and look for biological markers that match disease features.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 45 (estimated) |
| Sex | All |
| Sponsor | Università Vita-Salute San Raffaele Academic / other |
| Locations | 1 site (Milan) |
| Trial ID | NCT07125040 on ClinicalTrials.gov |
What this trial studies
This multicenter, observational project will combine retrospective chart review with prospective annual clinical assessments over two years in about 40–45 children and adults with genetically or biopsy-confirmed LAMA2-RD. Participants will undergo standardized evaluations of cardiac, peripheral nerve, respiratory, nutritional, skeletal, and cognitive function, plus quality-of-life measures and biosample collection, with cardiac MRI included for detailed cardiac assessment. The study aims to define the prevalence and characteristics of cardiomyopathy and peripheral neuropathy, compare severity across phenotypes and ages, and identify biomarkers that correlate with disease course. Results are intended to refine disease nomenclature and improve clinical trial readiness by informing inclusion criteria and outcome measures.
Who should consider this trial
Good fit: Children and adults with confirmed LAMA2-related dystrophy (two pathogenic LAMA2 variants or diagnostic muscle biopsy showing merosin deficiency) who can attend annual visits for two years are ideal candidates.
Not a fit: People without a confirmed LAMA2 diagnosis, those unable to travel for yearly visits, or those seeking an active treatment rather than observation are unlikely to receive direct clinical benefit from participation.
Why it matters
Potential benefit: If successful, it could help detect organ involvement earlier, guide monitoring, and make future clinical trials more accurate and efficient.
How similar studies have performed: Prior natural-history studies have provided useful pediatric data, but adult-focused, multi-organ biomarker characterization is limited, so this approach is partly novel.
Eligibility criteria
Show full inclusion / exclusion 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 * 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
Where this trial is running
Milan
- Irccs Ospedale San Raffaele — Milan, Italy (Recruiting)
Study contacts
- Study coordinator: Alberto A Zambon, MD, PhD
- Email: neuromuscolare@hsr.it
- Phone: +390226435080
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.