A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
Recruiting now
Conditions studied: LAMA2-related Muscular Dystrophy, SELENON-related Myopathy
In brief
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 smooth transition towards implementation into clinical care and clinical trials. The extended LAST STRONG Study is a prospective, observational natural history study in Dutch-speaking patients of all ages diagnosed with SELENON-RM and LAMA2-MD. Patients will be invited to visit our hospital two times (3- and 5-years) after the first visit in the LAST STRONG Study. During both visits, patients will undergo a subset of tests (neurological examination, functional measurements, questionnaires, muscle ultrasound, MRI, pulmonary assessment and accelerometry). All measurements are adapted to the patient's age and functional disabilities.
Key facts
- Study ID
- NCT06132750
- Run by
- Radboud University Medical Center
- People needed
- 40
- Starts
- 2023-10-06
- Expected to finish
- 2026-09-01
- Last updated by the study team
- 2023-11-15
Who can join
Age: 0 and older, up to 100. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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
You may not qualify if…
- Insufficient understanding of the Dutch language
Where it is running
- Radboudumc — Nijmegen, Gelderland, Netherlands (enrolling)
Full record on ClinicalTrials.gov
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