Status:
RECRUITING
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Lead Sponsor:
Radboud University Medical Center
Collaborating Sponsors:
UMC Utrecht
Conditions:
Central Core Disease
Multi-Minicore Disease
Eligibility:
All Genders
2+ years
Brief Summary
Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treat...
Detailed Description
Rationale: Patients with CCD/MmD, NEM and CNM report symptoms of weakness in the arms and legs. Other symptoms include weakness of the respiratory, facial and swallowing muscles. No treatments are ava...
Eligibility Criteria
Inclusion Criteria for the natural history:
- 2 years or older
- Willing and able to complete the measurement protocol
- Willing and able to travel to Nijmegen and Utrecht
- Dutch-speaking
- Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
Inclusion Criteria for the fatigability study:
- 8-60 years old
- Willing and able to complete the measurement protocol
- Willing and able to travel to Nijmegen and Utrecht
- Dutch-speaking
- Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
- Willing to stop taking pyridostigmine and/or salbutamol 24 hours before the visit.
Exclusion Criteria for both parts:
Other neuromuscular, psychiatric or neurological disorders.
Key Trial Info
Start Date :
March 28 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
November 1 2026
Estimated Enrollment :
100 Patients enrolled
Trial Details
Trial ID
NCT06157268
Start Date
March 28 2024
End Date
November 1 2026
Last Update
August 19 2024
Active Locations (2)
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1
Radboudumc
Nijmegen, Gelderland, Netherlands, 6500HB
2
UMC Utrecht
Utrecht, Netherlands, 3584 CX