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
- 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.
Exclusion
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