Understanding muscle fatigability in congenital myopathies
Official title: Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability
Run by Radboud University Medical Center · NCT06157268 · Data updated 2026-11-12
This study is trying to understand how muscle fatigue affects people with congenital myopathies like Central Core Disease and Nemaline Myopathy over two years.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 2 Years and up |
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | Radboud University Medical Center Academic / other |
| Locations | 2 sites (Nijmegen, Gelderland and 1 other locations) |
| Status | Recruiting |
| Started | March 28, 2024 |
| Main results expected | November 2026 |
| Study ends | November 2026 |
| Registry record updated | August 19, 2024 |
| Trial ID | NCT06157268 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates include Dutch-speaking individuals aged 2 years and older with genetically confirmed congenital myopathy.
✕Probably not a fit
Patients with other neuromuscular, psychiatric, or neurological disorders may not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study aims to explore the natural history and muscle fatigability of patients with congenital myopathies, specifically Central Core Disease, Multi-Minicore Disease, Nemaline Myopathy, and Centronuclear Myopathy. Over a period of 24 months, participants will undergo assessments through a prospective cohort study with multiple visits to gather detailed information on disease progression and identify sensitive clinical outcome measures. The study will also investigate the severity of muscle fatigability, a common symptom reported by patients, to better understand its impact on their daily lives. The research is being conducted at Radboud University Medical Center and UMC Utrecht in the Netherlands.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the progression and management of congenital myopathies, potentially leading to improved treatment strategies.
How similar studies have gone: While there have been some trials related to congenital myopathies, this specific focus on muscle fatigability and natural history is relatively novel.
Who can join: the full rules
Show full inclusion / exclusion 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.
Where it's running
-
Radboudumc
Nijmegen, Gelderland, Netherlands Recruiting -
UMC Utrecht
Utrecht, Netherlands Not yet recruiting
Study contacts
- Principal investigator: Nicol Voermans, MD PhD — Radboud University Medical Center
- Study coordinator: Nicol Voermans, MD PhD
- Email: Nicol.Voermans@radboudumc.nl
- Phone: +31650155770
Similar studies
Other studies for the same condition or treatment. Recruiting studies are listed first.
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Research on genetic causes of congenital myopathies
This study is trying to find out more about the genetic causes of congenital myopathies to help improve diagnosis and treatment for people born with these muscle diseases.
-
Natural history of nemaline myopathy in Spain
This program will follow people in Spain who have nemaline myopathy to chart how the condition changes over time and collect clinical, genetic, and functional data for future trials.
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Multispectral optoacoustic tomography for imaging muscles in centronuclear myopathy
This uses a painless MSOT scanning method to try to image muscles in people with centronuclear myopathy and in matched healthy volunteers for comparison.
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Collecting data on muscle disorders using wearable devices
This study is testing a wearable device to track movement in people with muscle disorders like Duchenne Muscular Dystrophy and Myotonic Dystrophy to see how it can help improve their care.
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Registry for patients with myotubular and centronuclear myopathy
This study is creating a registry to gather information from people with myotubular and centronuclear myopathy to help find participants for clinical trials and improve care for these conditions.
How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.