The Natural History and Muscle Fatigability of Patients With Congenital Myopathies. (NCT06157268) | Clinical Trial Compass
RecruitingNot Applicable
The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.
Netherlands100 participantsStarted 2024-03-28
Plain-language 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.
Who can participate
Age range
2 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change of Motor Function Measure (MFM)
Timeframe: Change from baseline at 6, 12, 18 and 24 months
2
Endurance shuttle test - fatigability part
Timeframe: At assessment 1 or 2 of the fatigability part of the study. Which day is dependent on the preference of the patient and planning possibilities.