A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myo
SELENON-related myopathy (SELENON-RM) and LAMA2-related muscular dystrophy (LAMA2-MD) are congenital neuromuscular disorders presenting with slowly, progressive axial muscle weakness, spinal rigidity, scoliosis and respiratory insufficiency. Currently, no curative treatment options exist, yet promising preclinical tria
| Condition(s) | LAMA2-related Muscular Dystrophy, SELENON-related Myopathy |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | SELENON-related myopathy (SELENON-RM) and LAMA2-related muscular dystrophy (LAMA2-MD) are congenital neuromuscular disorders presenting with slowly, progressive axial muscle weakness, spinal rigidity, scoliosis and respiratory insufficiency. Currently, no curative treatment options exist, yet promising preclinical trials are ongoing. Clinical trials are expected to start within 5 years. Natural history data and outcome measures for measuring therapy effectiveness were lacking. Therefore, the LAST STRONG Study (a 1.5-year natural history study) started in 2020. With the extended LAST STRONG Study, we aim to further analyze and expand the 1.5-year natural history data on SELENON-RM or LAMA2-MD to provide a detailed clinical description of the Dutch and Flemish cohort. This will enable a smoo |
| Who can participate | 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 |
| Ages | 1 Day to 100 Years |
| Sex | All |
| Lead sponsor | Radboud University Medical Center |
| Locations | Nijmegen, Gelderland, Netherlands |
| Start date | 2023-10-06 |
| NCT ID | NCT06132750 |
| Official listing | https://clinicaltrials.gov/study/NCT06132750 |