This is the 2 years extension of the prospective and longitudinal study of the natural history and functional status of patients with myotubular myopathy and other centronuclear (CNM) sponsored by Dynacure including ten additional pediatric patients with mutation in MTM1 or DNM2 genes). the patients are planned to be enrolled in one year leading to an expected total number of 70 patients followed at least over 1 year period. Data from the study will be used to characterize the disease course of CNM and determine which outcome measures will be the best to assess the efficacy of potential therapies.
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
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.
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
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.
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
MFM score change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
CHOP-INTEND score change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Modified Hammersmith score change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
6MWD change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Pinch strength change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Forced Vital Capacity change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Peak Cough Flow change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Inspiratory Pressure change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Expiratory Pressure change from baseline
Timeframe: Baseline, 6 months, 12 months and every year up to 60 months