Natural history study of LAMA2 muscular dystrophy in children
Spanish Natural History Study for LAMA2 Muscular Dystrophy
This study is trying to understand how LAMA2 muscular dystrophy affects children over time to help improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 0 Minutes to 100 Years |
| Sex | All |
| Sponsor | Hospital Universitari Vall d'Hebron Research Institute Academic / other |
| Locations | 1 site (Barcelona, Barcelona) |
| Trial ID | NCT06924125 on ClinicalTrials.gov |
What this trial studies
This observational study aims to comprehensively characterize the disease progression and clinical features of LAMA2-related dystrophies in the pediatric population. It will establish a well-defined cohort of patients in Spain, enabling long-term follow-up and facilitating recruitment for future clinical trials. The study will utilize various assessments, including motor function scales, muscle ultrasound, and physical examinations to gather detailed data on the condition.
Who should consider this trial
Good fit: Ideal candidates for this study are pediatric patients with a clinical presentation compatible with LAMA2 muscular dystrophy and identified pathogenic variants in the LAMA2 gene.
Not a fit: Patients without a confirmed diagnosis of LAMA2 muscular dystrophy or those who do not meet the genetic criteria may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into LAMA2 muscular dystrophy, potentially leading to improved management and treatment options for affected patients.
How similar studies have performed: While this study focuses on a specific cohort, similar observational studies have successfully characterized other forms of muscular dystrophy, suggesting potential for valuable findings.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * All patients with compatible clinical presentation and identification of 2 pathogenic variants in LAMA2, or muscle biopsy with decreased laminin alpha2 protein and at least one pathogenic variant * Signed informed consent by the Legal Authority Responsible and/or assent by the subject (starting from 6 years old)
Where this trial is running
Barcelona, Barcelona
- University Hospital Vall d'Hebron — Barcelona, Barcelona, Spain (Recruiting)
Study contacts
- Study coordinator: David Gómez-Andrés
- Email: david.gomezandres@vallhebron.cat
- Phone: +34934893156
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.