NCT03351270

Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 60 (actual)
• Sponsor: Institut de Myologie, France · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Conditions

• Centronuclear Myopathy

Interventions

Type	Name	Description
OTHER	Standardized strength, respiratory and motor function assessments	Standardized assessments will be adjusted by the age, the ambulant status and the respiratory status of the patient. The visit frequency will also be adjusted according to the age and to the time spent in the study varying between quarterly to yearly.

Timeline

• Start date: 2017-05-28
• Primary completion: 2021-09-30
• Completion: 2021-09-30
• First posted: 2017-11-22
• Last updated: 2023-03-02

Locations

11 sites across 5 countries: Belgium, France, Germany, Italy, Spain