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