Actively Recruiting
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Led by Radboud University Medical Center · Updated on 2024-08-19
100
Participants Needed
2
Research Sites
135 weeks
Total Duration
On this page
Sponsors
R
Radboud University Medical Center
Lead Sponsor
U
UMC Utrecht
Collaborating Sponsor
AI-Summary
What this Trial Is About
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 treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.
CONDITIONS
Official Title
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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)
- For fatigability study: 8-60 years old
- For fatigability study: Willing to stop taking pyridostigmine and/or salbutamol 24 hours before the visit
You will not qualify if you...
- Other neuromuscular disorders
- Psychiatric disorders
- Neurological disorders
AI-Screening
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Trial Site Locations
Total: 2 locations
1
Radboudumc
Nijmegen, Gelderland, Netherlands, 6500HB
Actively Recruiting
2
UMC Utrecht
Utrecht, Netherlands, 3584 CX
Not Yet Recruiting
Research Team
N
Nicol Voermans, MD PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
3
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