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| Name | Class |
|---|---|
| Audentes Therapeutics | INDUSTRY |
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This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
Subjects aged 0-7 will be evaluated every six months for a total of three evaluations (Baseline, Six-Month Visit, Twelve-Month Visit). Subjects aged 8-14 will be evaluated every twelve months for a total of two evaluations (Baseline, Twelve-Month Visit). Evaluations include medical history, physical exam, respiratory muscle tests, a qualitative interview related to the child's function and use of respiratory aids, and quality of life assessments.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Males with X-linked myotubular myopathy | History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| History and physical | Other | Subjects will undergo a physical exam and medical history review, including review of genetic test results. |
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| Measure | Description | Time Frame |
|---|---|---|
| Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit. | Change in baseline visit, at 6 month visit and 12 month visit |
| Measure | Description | Time Frame |
|---|---|---|
| Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit. | Subject's maximal inspiratory and expiratory pressures. | Change in baseline visit, at 6 month visit and 12 month visit |
| Change in baseline peak cough flow at 6 month visit and 12 month visit. |
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Inclusion Criteria:
Exclusion Criteria:
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Males with geneticially confirmed XLMTM
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| Name | Affiliation | Role |
|---|---|---|
| Barbara K Smith, PT, PhD | University of Florida | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of Florida | Gainesville | Florida | 32607 | United States |
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| Tidal breathing | Other | Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support. |
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| Maximal respiratory pressures | Other | Subjects' strongest inspiratory and expiratory pressures will be measured. |
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| Peak cough flow | Other | Subjects' strongest coughs will be measured. |
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| Pediatric Evaluation of Disability Inventory | Other | Assesses the functional capabilities of children with disabilities. |
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| PedsQL Multidimensional Fatigue Scale | Other | Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue. |
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| Review of ventilation requirements | Other | Subjects's use of mechanical ventilation reviewed by the study team. |
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Subjects will be assessed on the ability to generate a cough and the strength of that cough. |
| Change in baseline visit, at 6 month visit and 12 month visit |
| Change in baseline tidal breathing at 6 month visit and 12 month visit. | Subject's resting breathing pattern will be assessed. | Change in baseline visit, at 6 month visit and 12 month visit |
| 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 |
|---|---|
| D055991 | Health Records, Personal |
| D012149 | Restraint, Physical |
| ID | Term |
|---|---|
| D008499 | Medical Records |
| D011996 | Records |
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D032763 | Behavior Control |
| D013812 | Therapeutics |
| D007103 | Immobilization |
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