Understanding muscle fatigability in congenital myopathies
Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability
Radboud University Medical Center · NCT06157268
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Ages | 2 Years and up |
| Sex | All |
| Sponsor | Radboud University Medical Center (other) |
| Locations | 2 sites (Nijmegen, Gelderland and 1 other locations) |
| Trial ID | NCT06157268 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include Dutch-speaking individuals aged 2 years and older with genetically confirmed congenital myopathy.
Not a fit: Patients with other neuromuscular, psychiatric, or neurological disorders may not benefit from this study.
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 performed: While there have been some trials related to congenital myopathies, this specific focus on muscle fatigability and natural history is relatively novel.
Eligibility criteria
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 this trial is running
Nijmegen, Gelderland and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Central Core Disease, Multi-Minicore Disease, Nemaline Myopathy, Centronuclear Myopathy, Natural history study, Outcome measures, Congenital myopathy, Muscle disease