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

Study Overview
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Brief Summary
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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.

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

Conditions
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Centronuclear Myopathy

Intervention / Treatment
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* Other: Standardized strength, respiratory and motor function assessments


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients of any age (newborns included) may participate Patients over 18 years of age and parent(s)/legal guardian(s) of patients < 18 years of age must be provide written informed consent prior to participating in the study and informed assent will be obtained from minors at least 7 years of age when required by regulation. Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 gene Male or symptomatic female. A symptomatic female will be defined by the motor function assessment by Motor Function Measure (MFM) or North Star Ambulatory Assessment (NSAA) below 80% of the total score. Willing and able to comply with all protocol requirements and procedures. In France only: Affiliated to or a beneficiary of a social security category Exclusion Criteria: Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine For women: pregnancy or current breastfeeding
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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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|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.|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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 | 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 | Baseline, 6 months, 12 months and every year up to 60 months | 
| Moviplate score change from baseline | Moviplate score | Baseline, 6 months, 12 months and every year up to 60 months | 
| 6MWD change from baseline | 6 Minute Walking Distance | Baseline, 6 months, 12 months and every year up to 60 months | 
| Grip strength change from baseline | MyoGrip | Baseline, 6 months, 12 months and every year up to 60 months | 
| Pinch strength change from baseline | MyoPinch | Baseline, 6 months, 12 months and every year up to 60 months | 
| Forced Vital Capacity change from baseline |  | Baseline, 6 months, 12 months and every year up to 60 months | 
| Peak Cough Flow change from baseline |  | Baseline, 6 months, 12 months and every year up to 60 months | 
| Maximum Inspiratory Pressure change from baseline |  | Baseline, 6 months, 12 months and every year up to 60 months | 
| Maximum Expiratory Pressure change from baseline |  | Baseline, 6 months, 12 months and every year up to 60 months | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CNM, XLMTM, Myotubular myopathy