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Clinical Trials in Italy / NCT07125040
Recruiting Observational

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

NCT07125040 · tracked via the Priya Life Science Italy tracker
Sponsor
Università Vita-Salute San Raffaele
Phase
Observational
Started
2025-07-31
Last updated
2025-08-15

Condition(s) studied

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

Investigational drug(s) / intervention(s)

Cardiac MRI

Cardiac MRI: On a subset of adult patients

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.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • Rhythm abnormalities — 0, 12, 24 months
    Prsence or absence of rhythm abnormalities (Brady arrhythmia, supraventricular and ventricular tachyarrhythmia) as detected by ECG and 24-hour Holter ECG
  • Cardiac function — 0, 12, 24 months
    Left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) measured by transthoracic echocardiogram
  • Cardiac inflammation and fibrosis — T0
    Cardiac inflammation and fibrosis by cardiac Magnetic Resonance Imaging (MRI) (only in adult patients)

Trial sites (1)

FacilityCityRegionStatus
Irccs Ospedale San Raffaele Milan Italy Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07125040 on ClinicalTrials.gov ↗ ← All trials in Italy