Status:
RECRUITING
A 5-year Natural History Study in LAMA2-related Muscular Dystrophy and SELENON-related Myopathy.
Lead Sponsor:
Radboud University Medical Center
Conditions:
LAMA2-related Muscular Dystrophy
SELENON-related Myopathy
Eligibility:
All Genders
1-100 years
Brief 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,...
Detailed Description
Rationale: A long-term prospective natural history study in an unselected group of patients including clinical and functional outcome measures is lacking in both SELENON-related myopathy (SELENON-RM) ...
Eligibility Criteria
Inclusion
- 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
- Insufficient understanding of the Dutch language
Key Trial Info
Start Date :
October 6 2023
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
September 1 2026
Estimated Enrollment :
40 Patients enrolled
Trial Details
Trial ID
NCT06132750
Start Date
October 6 2023
End Date
September 1 2026
Last Update
November 15 2023
Active Locations (1)
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1
Radboudumc
Nijmegen, Gelderland, Netherlands, 6525GA