NatHis-CNM: Prospective Natural History Study of Patients With Myotubular Myopathy and Other CentroNuclear Myopathies
Study Details
Study Description
Brief 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
Study Design
Outcome Measures
Primary Outcome Measures
- MFM score change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
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.
- CHOP-INTEND score change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders
- Modified Hammersmith score change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
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
- Moviplate score change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
Moviplate score
- 6MWD change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
6 Minute Walking Distance
- Grip strength change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
MyoGrip
- Pinch strength change from baseline [Baseline, 6 months, 12 months and every year up to 60 months]
MyoPinch
- 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]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Patients of any age (newborns included) may participate
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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.
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Myotubular Centronuclear myopathy (MTMCNM) resulting from a mutation in the MTM1, DNM2 or BIN1 gene
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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.
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Willing and able to comply with all protocol requirements and procedures.
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In France only: Affiliated to or a beneficiary of a social security category
Exclusion Criteria:
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Other disease which may significantly interfere with the assessment of the MTM CNM and is clearly not related to the disease
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Currently enrolled in a treatment study; or treatment with an experimental therapy other than pyridostigmine
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For women: pregnancy or current breastfeeding
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Centre de référence neuromusculaire, CHR La Citadelle | Liège | Belgium | 4000 | |
| 2 | Hôpital Femme Mère Enfant, CHU Lyon L'Escale | Bron | France | 69500 | |
| 3 | Hôpital Roger Salengro, CHU Lille | Lille | France | 59000 | |
| 4 | Hôpital de la Croix Rousse | Lyon | France | 69004 | |
| 5 | Hôpital Armand Trousseau | Paris | France | 75012 | |
| 6 | I-Motion Institute - Trousseau Hospital | Paris | France | 75012 | |
| 7 | Institute of Myology | Paris | France | 75013 | |
| 8 | Hôpital Sainte Musse | Toulon | France | 83056 | |
| 9 | Universitätsklinikum Essen (AöR) | Essen | Germany | D-45147 | |
| 10 | Bambino Gesu Children's Hospital | Roma | Italy | 00146 | |
| 11 | Hospital Puerta del Mar | Cadiz | Spain | 21-11009 |
Sponsors and Collaborators
- Institut de Myologie, France
- Dynacure
Investigators
- Principal Investigator: Laurent Servais, MD, Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- NatHis-CNM