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

NCT07125040 | Recruiting

• 1 other identifier: GUP24002_LAMA2
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

Brief 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 \(Merosin Deficient Congenital Muscular Dystrophy, MDC1A\); Merosin Deficient CMD (Full or Partial); Merosin Deficient Congenital Muscular Dystrophy

Keywords

LAMA2-RD; Natural history

Outcome Measures

Primary Outcomes (3)

• Rhythm abnormalities

  Prsence or absence of rhythm abnormalities (Brady arrhythmia, supraventricular and ventricular tachyarrhythmia) as detected by ECG and 24-hour Holter ECG

  0, 12, 24 months

• Cardiac function

  Left ventricular end-diastolic volume (LVEDV) and left ventricular ejection fraction (LVEF) measured by transthoracic echocardiogram

  0, 12, 24 months

• Cardiac inflammation and fibrosis

  Cardiac inflammation and fibrosis by cardiac Magnetic Resonance Imaging (MRI) (only in adult patients)

  T0

Secondary Outcomes (12)

• Motor outcome 1

  0, 12, 24 months

• Motor outcome 2

  0,12, 24 months

• Motor outcome 3 (Upper limbs)

  0, 12, 24 months

• Motor outcome 4 (Timed tests)

  0, 12, 24 months

• Motor outcome 4 (Timed tests)

  0, 12, 24 months

Interventions

Cardiac MRI OTHER

On a subset of adult patients

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Adult and pediatric patients affected by LAMA2-RD

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Università Vita-Salute San Raffaele: lead

Study Sites (1)

Irccs Ospedale San Raffaele

Milan, 20132, Italy

RECRUITING

MeSH Terms

Conditions

Muscular dystrophy congenital, merosin negative

Central Study Contacts

Alberto A Zambon, MD, PhD

CONTACT

+390226435080; neuromuscolare@hsr.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD - Principal Investigator

Study Record Dates

• First Submitted: July 17, 2025
• First Posted: August 15, 2025
• Study Start: July 31, 2025
• Primary Completion (Estimated): May 1, 2027
• Study Completion (Estimated): May 1, 2028
• Last Updated: August 15, 2025

Record last verified: 2025-08

Locations

IT (1)