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

Title: 
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Recruitment Status: 
Completed
Status Last Updated: 
September 6, 2019
Clinical Phenotype(s): 
Myotubular Myopathy, X-linked - XLMTM/MTM1
Gene(s): 
MTM1
Study Purpose: 

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.

Intervention/Treatment: 
Other: History and Physical, Tidal Breathing, Maximal Respiratory Pressures, Peak Cough Flow, Pediatric Evaluation of Deisabilty Inventory, PedsQL Multidimensional Fatigue Scale & Review of Ventilation Requirements
Phase: 
Unknown
Study Description: 

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.

Study Type: 
Observational
Official Title: 
Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
Study Start Date: 
October 2015
Study Completion Date: 
July 31, 2019
Primary Objective(s): 

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 ]

Secondary Objective(s): 
  • 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.
Eligibility: 

Ages Eligible for Study:      up to 14 Years   (Child)

Sexes Eligible for Study: Male

Accepts Healthy Volunteers: No

Sampling Method: Non-Probability Sample

Inclusion Criteria: 
  • Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
  • Patients who are between 0 and 14 years of age.
Exclusion Criteria: 
  • Patients without a confirmed genetic mutation.
  • Patients unable to travel to the site for the study.
  • Patients participating in an interventional treatment study for XLMTM at the time of enrollment.
  • Patients who are unable to complete study procedures.
  • Patients who have a condition that, in the opinion of the investigator, would make participation in this study unsafe.
Study Site(s)/Location(s): 

United States, Florida

University of Florida

Gainesville, Florida, United States, 32607

Sponsors & Collaborators: 

University of Florida

Audentes Therapeutics

Principal Investigator(s): 

Barbara K Smith, PT, PhD

University of Florida

For more information, please contact the Study Coordinator: 

Contact:  

Email: 

Phone: 

ClinicalTrials.gov ID: 
NCT02453152