The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability
Radboud University Medical Center
100 participants
Mar 28, 2024
OBSERVATIONAL
Conditions
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 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.
Eligibility
Inclusion Criteria11
- 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)
- 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 Criteria1
- Other neuromuscular, psychiatric or neurological disorders.
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Interventions
This study concerns a natural history study part and a muscle fatigability part. For the natural history study no interventions will be used. For the muscle fatigability part non therapeutical therapies will be used. This includes endurance tests, isokinetic dynamometry and repetitive nerve stimulation.
Locations(2)
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NCT06157268