RecruitingNot Applicable

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

Italy45 participantsStarted 2025-07-31

Plain-language 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.

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Rhythm abnormalities

Timeframe: 0, 12, 24 months

Cardiac function

Timeframe: 0, 12, 24 months

Cardiac inflammation and fibrosis

Timeframe: T0

Trial details

NCT IDNCT07125040

SponsorUniversità Vita-Salute San Raffaele

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2027-05

Contact for this trial

Alberto A Zambon, MD, PhD

+390226435080 neuromuscolare@hsr.it

View on ClinicalTrials.gov More LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) trials

Plain-language summary

Who can participate

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

. 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