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.
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Change of Motor Function Measure (MFM)
Timeframe: Change from baseline at 6, 12, 18 and 24 months
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.