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

NCT07125040 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2025-08-15

No results posted yet for this study

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.

Conditions

  • LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A)
  • LAMA2-MD \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\)
  • Merosin Deficient CMD (Full or Partial)
  • Merosin Deficient Congenital Muscular Dystrophy

Interventions

OTHER

Cardiac MRI

On a subset of adult patients

Sponsors & Collaborators

  • Università Vita-Salute San Raffaele

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-07-31
Primary Completion
2027-05-31
Completion
2028-05-31

Countries

  • Italy

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07125040 on ClinicalTrials.gov