Status:
COMPLETED
The Natural History of Patients With Mutations in SEPN1 (SELENON) or LAMA2
Lead Sponsor:
Radboud University Medical Center
Conditions:
MDC1A
SELENON-related Myopathy
Eligibility:
All Genders
1-100 years
Brief Summary
SEPN1 (SELENON) is a rare congenital myopathy due to mutations in the SELENON gene. MDC1A is a rare congenital muscle dystrophy due to mutations in the LAMA2 gene. Currently, not much is known about t...
Detailed Description
Rationale: Patients with mutations in the SELENON gene suffer from slowly progressive congenital muscular dystrophy with early onset rigidity of the spine and potentially life-threatening respiratory ...
Eligibility Criteria
Inclusion
- Willing and able to complete (part of the) measurement protocol
- Willing and able to travel to Nijmegen (The Netherlands)
- Dutch-speaking
- Genetically-confirmed muscle disease caused by mutations in SELENON (SEPN1): congenital muscular dystrophy with early spine rigidity or congenital myopathy (multicore/minicore disease, congenital fiber type size disproportion)
- Genetically confirmed muscular dystrophy caused by mutations in LAMA2: merosin-deficient muscular dystrophy 1A (early-onset LAMA2-related muscular dystrophy) or childhood-onset limb-girdle type muscular dystrophy (late-onset LAMA2-related muscular dystrophy)
Exclusion
- None
Key Trial Info
Start Date :
August 26 2020
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 24 2023
Estimated Enrollment :
38 Patients enrolled
Trial Details
Trial ID
NCT04478981
Start Date
August 26 2020
End Date
March 24 2023
Last Update
November 18 2023
Active Locations (1)
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1
Radboudumc
Nijmegen, Gelderland, Netherlands, 6500 HB