Natural History Study of Patients With Centronuclear Myopathies
A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies
This is a prospective, longitudinal study of the natural disease course intended to recruit
approximately 60 patients with centronuclear myopathies (CNM) in Europe and the United
States. The duration of the study, including the enrollment period, will be approximately 4
years. Data from the study will be used to characterize the natural disease course of CNM, to
identify prognostic variables of the disease and to determine the best outcome measure(s) for
the evaluation of future therapeutic approaches.
Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases.
Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Primary Completion Date
- 1. Clinically symptomatic male or female subjects of all ages (newborns included) with
a CNM resulting from a documented mutation in the MTM1 or DNM2 gene.
- 2. A written, signed and dated informed consent must be provided to participate in the
study. For subjects <18 years, consent of parent(s)/legal guardian(s) is required;
informed assent can be obtained from the child according to local regulations.
- 3. Willing and able to comply with all protocol requirements and procedures.
- 1. Participation in any other interventional study. Participation in a previous study
should be completed at least 4 weeks before the first study visit.
- 2. Currently undergoing or has undergone previous gene therapy or other therapy for
- 3. Current or past abuse of alcohol or recreational/narcotic drugs (with the exception
of caffeine and nicotine), which in the investigator's opinion would compromise the
subject's safety and/or compliance with the study procedures.
- 4. Current or relevant history of physical or psychiatric illness, that would make the
subject unlikely to comply with the study procedures.
- 5. Subject is mentally incapacitated, or parent(s)/legally-authorized representative
are legally incapacitated or have limited legal capacity, or have lack of mental
capacity to fully understand the protocol requirements and complete all study required