NCT06157268 The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
| NCT ID | NCT06157268 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Radboud University Medical Center |
| Condition | Central Core Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2024-03-28 |
| Primary Completion | 2026-11 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2024-03-28 with a primary completion date of 2026-11.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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 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 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 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.
Contact & Investigator
Nicol Voermans, MD PhD
PRINCIPAL INVESTIGATOR
Radboud University Medical Center
Frequently Asked Questions
Who can join the NCT06157268 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, studying Central Core Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06157268 currently recruiting?
Yes, NCT06157268 is actively recruiting participants. Contact the research team at Nicol.Voermans@radboudumc.nl for enrollment information.
Where is the NCT06157268 trial being conducted?
This trial is being conducted at Nijmegen, Netherlands, Utrecht, Netherlands.
Who is sponsoring the NCT06157268 clinical trial?
NCT06157268 is sponsored by Radboud University Medical Center. The principal investigator is Nicol Voermans, MD PhD at Radboud University Medical Center. The trial plans to enroll 100 participants.