NCT07125040 Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
| NCT ID | NCT07125040 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Università Vita-Salute San Raffaele |
| Condition | LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A) |
| Study Type | OBSERVATIONAL |
| Enrollment | 45 participants |
| Start Date | 2025-07-31 |
| Primary Completion | 2027-05 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 45 participants in total. It began in 2025-07-31 with a primary completion date of 2027-05.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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.
Eligibility Criteria
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
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07125040 clinical trial?
This trial is open to participants of all sexes, studying LAMA2-MD (Merosin Deficient Congenital Muscular Dystrophy, MDC1A). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07125040 currently recruiting?
Yes, NCT07125040 is actively recruiting participants. Contact the research team at neuromuscolare@hsr.it for enrollment information.
Where is the NCT07125040 trial being conducted?
This trial is being conducted at Milan, Italy.
Who is sponsoring the NCT07125040 clinical trial?
NCT07125040 is sponsored by Università Vita-Salute San Raffaele. The trial plans to enroll 45 participants.