Long-term observation of LAMA2-related muscular dystrophy and SELENON-related myopathy
A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy: the Extended LAST STRONG Study
This study is tracking the health and progress of people with LAMA2-related muscular dystrophy and SELENON-related myopathy over five years to better understand these conditions and help with future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 40 (estimated) |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Sponsor | Radboud University Medical Center Academic / other |
| Locations | 1 site (Nijmegen, Gelderland) |
| Trial ID | NCT06132750 on ClinicalTrials.gov |
What this trial studies
This observational study aims to collect and analyze natural history data over five years for patients with LAMA2-related muscular dystrophy and SELENON-related myopathy. It will involve a comprehensive assessment of clinical and functional outcomes through various tests, including medical history, neurological examinations, and pulmonary assessments. The study seeks to enhance understanding of these conditions and prepare for future clinical trials by providing detailed clinical descriptions of affected patients in the Dutch and Flemish regions.
Who should consider this trial
Good fit: Ideal candidates are Dutch-speaking individuals with genetically confirmed LAMA2-related muscular dystrophy or SELENON-related myopathy.
Not a fit: Patients who do not speak Dutch or lack genetic confirmation of the specified conditions may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide critical insights that lead to improved clinical care and the development of effective treatments for these neuromuscular disorders.
How similar studies have performed: While this study builds on previous natural history data collection efforts, it is part of a broader initiative to prepare for upcoming clinical trials, indicating a novel approach in this specific context.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Willing and able to complete (part of) the measurement protocol at the Radboudumc, Nijmegen. If patients do not wish or not able to visit our neuromuscular center, they are offered to participate in our study through home visits. * Genetic conformation of LAMA2-related muscular dystrophy or SELENON-related myopathy by two recessive (likely) pathologic mutations in the LAMA2 or SELENON gene. * Typical clinical and histological characteristics combined with genetic confirmation in a first degree relative. * Dutch speaking Exclusion Criteria: * Insufficient understanding of the Dutch language
Where this trial is running
Nijmegen, Gelderland
- Radboudumc — Nijmegen, Gelderland, Netherlands (Recruiting)
Study contacts
- Study coordinator: Ilse de Laat
- Email: ilse.delaat@radboudumc.nl
- Phone: +31611469112
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.