Actively Recruiting
Characterization of the Natural History of Laminin-Alpha-2-Related Dystrophy (LAMA2-RD) Patients and Identification of Novel Disease Biomarkers
Led by Università Vita-Salute San Raffaele · Updated on 2025-08-15
45
Participants Needed
1
Research Sites
52 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are studying Laminin-Alpha-2-Related Dystrophy (LAMA2-RD), a genetic condition causing muscular dystrophy with varying severity from early-onset congenital forms to milder adult cases. This observational study aims to understand how the disease affects multiple organs, including the heart, nerves, lungs, nutrition, bones, and brain, especially focusing on adults. It also seeks to clarify how quality of life and transition to adulthood are impacted and to develop better disease classifications to support future clinical trials. Participants will undergo both retrospective and prospective clinical assessments every 12 months for two years at multiple centers. A subset of about 20 adult participants will have cardiac MRI scans with contrast to examine heart involvement. Biological samples collected during routine blood tests will be used for future research. The study will analyze differences in organ involvement among various patient subgroups. During the study, participants will be evaluated through clinical visits every year for two years, including motor and respiratory function tests and cardiac assessments. Researchers will measure heart rhythm abnormalities, cardiac function, and inflammation at the start and during follow-up visits. The study also tracks motor abilities and respiratory function at these intervals. Participants will provide informed consent and attend scheduled visits to help monitor disease progression and gather comprehensive data.
CONDITIONS
Brief Title
Characterization of the Natural History of LAMA2-RD and Identification of Novel Disease Biomarkers
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of LAMA2-related dystrophy confirmed by either two causative mutations in the LAMA2 gene or muscle biopsy showing absence of merosin with at least one causative LAMA2 mutation
- Consistent disease features and affected siblings meeting the above criteria
- Ability to participate in study visits every 12 months over a 24-month period
- Ability to provide informed consent for adults or have parents/legal guardians provide consent for children
You will not qualify if you...
- Lack of confirmed diagnosis of LAMA2-related dystrophy
- Inability to attend study visits every 12 months
- Medical fragility preventing safe travel to the study site or participation in assessments
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 2 years
Participants are observed over time to collect clinical assessments related to their condition without receiving an intervention.
Visits every 12 months for a total of 3 visits
Duration - At baseline
A subset of adult participants undergo additional cardiac MRI to assess cardiac inflammation and fibrosis.
1 cardiac MRI visit (in-person)
Trial Site Locations
Total: 1 location
1
Irccs Ospedale San Raffaele
Milan, Italy, 20132
Actively Recruiting
Research Team
A
Alberto A Zambon, MD, PhD
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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