An interventional study of Standardized strength, respiratory and motor function assessments in Centronuclear Myopathy, sponsored by Institut de Myologie, France. Completed at 11 sites in 5 countries. Per ClinicalTrials.gov, last updated 2023-03-02.
Sponsored by Institut de Myologie, France · Not applicable, Interventional, and Other
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.
Exclusion Criteria:
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.
MFM score change from baseline
Motor Function Measure scale. The total test score can range from 0 if the subject cannot perform any of the items to 100 if all the items are fully achieved.
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
CHOP-INTEND score change from baseline
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Modified Hammersmith score change from baseline
Modified Hammersmith Functional Motor Scale. The total test score can range from 0 if the subject cannot perform any of the items to 40 if all the items are fully achieved
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Moviplate score change from baseline
Moviplate score
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
6MWD change from baseline
6 Minute Walking Distance
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Grip strength change from baseline
MyoGrip
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Pinch strength change from baseline
MyoPinch
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Forced Vital Capacity change from baseline
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Peak Cough Flow change from baseline
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Inspiratory Pressure change from baseline
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
Maximum Expiratory Pressure change from baseline
Time frame: Baseline, 6 months, 12 months and every year up to 60 months
This study is completed, as verified in Mar 2023. You cannot join it, but the record below documents what was studied.
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Institut de Myologie, France