RecruitingNCT07125040

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


Sponsor

Università Vita-Salute San Raffaele

Enrollment

45 participants

Start Date

Jul 31, 2025

Study Type

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

OTHERCardiac MRI

On a subset of adult patients


Locations(1)

Irccs Ospedale San Raffaele

Milan, Italy

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NCT07125040


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