Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
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|ClinicalTrials.gov Identifier: NCT02453152|
Recruitment Status : Recruiting
First Posted : May 25, 2015
Last Update Posted : January 10, 2018
|Condition or disease||Intervention/treatment|
|X-linked Myotubular Myopathy||Other: History and physical Other: Tidal breathing Other: Maximal respiratory pressures Other: Peak cough flow Other: Pediatric Evaluation of Disability Inventory Other: PedsQL Multidimensional Fatigue Scale Other: Review of ventilation requirements|
|Study Type :||Observational|
|Estimated Enrollment :||12 participants|
|Official Title:||Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)|
|Study Start Date :||October 2015|
|Estimated Primary Completion Date :||July 2018|
|Estimated Study Completion Date :||December 2018|
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
Other: History and physical
Subjects will undergo a physical exam and medical history review, including review of genetic test results.Other: Tidal breathing
Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.Other: Maximal respiratory pressures
Subjects' strongest inspiratory and expiratory pressures will be measured.
Other Name: MIP, MEPOther: Peak cough flow
Subjects' strongest coughs will be measured.Other: Pediatric Evaluation of Disability Inventory
Assesses the functional capabilities of children with disabilities.
Other Name: PEDIOther: PedsQL Multidimensional Fatigue Scale
Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.Other: Review of ventilation requirements
Subjects's use of mechanical ventilation reviewed by the study team.
- Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]
- Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]Subject's maximal inspiratory and expiratory pressures.
- Change in baseline peak cough flow at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]Subjects will be assessed on the ability to generate a cough and the strength of that cough.
- Change in baseline tidal breathing at 6 month visit and 12 month visit. [ Time Frame: Change in baseline visit, at 6 month visit and 12 month visit ]Subject's resting breathing pattern will be assessed.
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02453152
|Contact: Barbara K Smith, PT, PhDemail@example.com|
|Contact: Lee Kugelmannfirstname.lastname@example.org|
|United States, Florida|
|University of Florida||Recruiting|
|Gainesville, Florida, United States, 32607|
|Contact: Lee Kugelmann, BA 352-273-6855 email@example.com|
|Principal Investigator:||Barbara K Smith, PT, PhD||University of Florida|