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.
Study Type
OBSERVATIONAL
Change from baseline in the Motor Function Measure (MFM32) for neuromuscular diseases.
The MFM32 assessment will be based on subject age. Scoring from 0 (cannot initiate the task) to 3 (performs the task fully).
Time frame: Baseline, Up to 36 months
Change from baseline in the Peak Inspiratory Pressure (PIP).
The PIP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.
Time frame: Baseline, Up to 36 months
Change from baseline in the in Peak Expiratory Pressure (PEP).
The PEP assessment will be based on subject age and ventilation status. Results will be expressed in cmH2O.
Time frame: Baseline, Up to 36 months
Change from baseline in the Pediatric Quality of Life inventory (PedsQL™).
The PedsQL™ questionnaire will be completed by the caregivers or by subjects based on subject age.
Time frame: Baseline, Up to 36 months
Change from baseline in the Assessment of Caregiver Experience with Neuromuscular Disease (ACEND).
The ACEND questionnaire will be completed by the caregiver for subjects in the study. Scoring from 1 (needs full time assistance) to 6 (needs no assistance).
Time frame: Baseline, Up to 36 months
Change from baseline in the (Pediatric) Eating Assessment Tool-10 ([Pedi]-EAT-10).
The (Pedi)-EAT-10 assessment will be completed by the caregiver based on subject age. Scoring from 0 (no problem) to 4 (severe problem).
Time frame: Baseline, Up to 36 months
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Change from baseline in the Meaningful Use of Speech Scale (MUSS).
The MUSS will be scored by trained site personnel based on the caregiver's or subject's reporting. Scoring from 0 (never) to 4 (always).
Time frame: Baseline, Up to 36 months