About this trial

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.

Eligibility criteria

Qualifiers

2 years or older

Willing and able to complete the measurement protocol

Willing and able to travel to Nijmegen and Utrecht

Dutch-speaking

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Natural history and non therapeutical therapy

Treatment groups

100 Participants
are divided into 3 treatment groups

Locations

2
Radboudumc6500HB, NijmegenGelderland, Netherlands
UMC Utrecht3584 CX, Utrecht Netherlands

Sponsors and collaborators

Radboud University Medical Center

Lead sponsor

UMC Utrecht

Collaborator