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

Recruitingn/aAges 2 Years - anyAllRadboud University Medical Center
NCT06157268 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Natural history and non therapeutical therapy
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Where

2 sites
Radboudumc
Nijmegen, Netherlands
UMC Utrecht
Utrecht, Netherlands
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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