Natural History Study of Patients With Centronuclear Myopathies

Study Overview
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Brief Summary
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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.

Official Title
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A Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Centronuclear Myopathies

Conditions
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Centronuclear Myopathy

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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. Exclusion Criteria: 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 CNM. 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. (Note: Subjects in a wheelchair are not to be excluded). 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 procedures.

Ages Eligible for Study
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Minimum Age: 0 Months

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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). | 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. | 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. | Baseline, Up to 36 months | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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). | 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). | Baseline, Up to 36 months | 
| 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). | Baseline, Up to 36 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Muscular Diseases, Myopathies, Structural, Congenital, Musculoskeletal Diseases, Neuromuscular Diseases, Nervous System Diseases