Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability

What this Trial Is About

This research aims to understand the natural history and muscle fatigability in patients with three rare congenital myopathies: Central Core Disease/Multi-Minicore Disease (CCD/MmD), Nemaline Myopathy (NEM), and Centronuclear Myopathy (CNM). These conditions cause muscle weakness in the arms, legs, and other muscles such as those for breathing, facial movement, and swallowing. Since no curative treatments exist, the study seeks to gather detailed information about disease progression and identify sensitive clinical measures and biomarkers over 24 months to prepare for future clinical trials. The study has two parts. The first is a 2-year prospective cohort study involving 45 patients who will have five visits every six months to monitor disease progression. The second is a cross-sectional observational study focusing on muscle fatigability that will include 75 patients with two visits for assessments. Tests will include muscle strength and endurance measures, imaging (MRI and ultrasound), walking ability, quality of life questionnaires, and evaluations of muscle fatigability and fatigue sensation. Some patients may participate in both parts. Participants will undergo comprehensive evaluations, including motor function measures at multiple time points, endurance tests, muscle imaging, and questionnaires assessing fatigue and quality of life. Other assessments include pulmonary function tests, muscle strength testing, and blood tests for biomarkers like creatine kinase and vitamin D3. The study involves traveling to study sites in Nijmegen and Utrecht for testing. Researchers will closely monitor changes in motor function, muscle fatigability, and other outcomes to better understand these myopathies and support future treatment trials.

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