The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.

Recruiting Observational Study
Central Core Disease Multi-Minicore Disease Nemaline Myopathy Centronuclear Myopathy
No Placebo Group Every participant receives an active treatment — no one gets a placebo. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Age
2 and older
Sex
Any
Study type
Observational
Participants needed
100 (estimated)
Sponsor
Radboud University Medical Center · Other
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About This Trial
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 r…
Trial Locations
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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 s…
Contacts

Nicol Voermans, MD PhD

+31650155770

Nicol.Voermans@radboudumc.nl

CONTACT