Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
|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.
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|