Clinical Trial: Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Observational

Official Title: Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)

Brief Summary: 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.

Detailed Summary: 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.
Sponsor: University of Florida

Current Primary Outcome: 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 ]

Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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.


Original Secondary Outcome: Same as current

Information By: University of Florida

Dates:
Date Received: May 18, 2015
Date Started: October 2015
Date Completion: May 2017
Last Updated: April 4, 2017
Last Verified: April 2017