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| Name | Class |
|---|---|
| Dynacure | INDUSTRY |
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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Standardized strength, respiratory and motor function assessments | Other | 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. |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Laurent Servais, MD | Centre de référence neuromusculaire, CHR La Citadelle; 4000 Liege Belgium | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre de référence neuromusculaire, CHR La Citadelle | Liège | 4000 | Belgium | |||
| Hôpital Femme Mère Enfant, CHU Lyon L'Escale |
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| 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 |
| Bron |
| 69500 |
| France |
| Hôpital Roger Salengro, CHU Lille | Lille | 59000 | France |
| Hôpital de la Croix Rousse | Lyon | 69004 | France |
| Hôpital Armand Trousseau | Paris | 75012 | France |
| I-Motion Institute - Trousseau Hospital | Paris | 75012 | France |
| Institute of Myology | Paris | 75013 | France |
| Hôpital Sainte Musse | Toulon | 83056 | France |
| Universitätsklinikum Essen (AöR) | Essen | D-45147 | Germany |
| Bambino Gesu Children's Hospital | Roma | 00146 | Italy |
| Hospital Puerta del Mar | Cadiz | 21-11009 | Spain |
| ID | Term |
|---|---|
| D020914 | Myopathies, Structural, Congenital |
| ID | Term |
|---|---|
| D009135 | Muscular Diseases |
| D009140 | Musculoskeletal Diseases |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
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| ID | Term |
|---|---|
| D056152 | Respiratory Rate |
| ID | Term |
|---|---|
| D055986 | Vital Signs |
| D010808 | Physical Examination |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D012119 | Respiration |
| D012143 | Respiratory Physiological Phenomena |
| D002943 | Circulatory and Respiratory Physiological Phenomena |
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