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

• ClinicalTrials.gov Identifier: NCT02453152
• Recruitment Status: Completed
• First Posted: May 25, 2015
• Last Update Posted: February 15, 2021
• Sponsor: University of Florida
• Collaborator: Audentes Therapeutics
• Information provided by (Responsible Party): University of Florida

Tracking Information

• First Submitted Date: May 18, 2015
• First Posted Date: May 25, 2015
• Last Update Posted Date: February 15, 2021
• Study Start Date: October 2015
• Actual Primary Completion Date: July 31, 2019 (Final data collection date for primary outcome measure)
• Current Primary Outcome Measures (submitted: May 20, 2015): 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 Measures: Same as current

Current Secondary Outcome Measures (submitted: May 20, 2015)

• 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 Measures: Same as current
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
• 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 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
• Study Design: Observational Model: Cohort; Time Perspective: Prospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• Sampling Method: Non-Probability Sample
• Study Population: Males with geneticially confirmed XLMTM
• Condition: X-linked Myotubular Myopathy

Intervention

• 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, MEP
• Other: 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: PEDI
• Other: 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.

Study Groups/Cohorts

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

Interventions:

• 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

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: September 4, 2019): 28
• Original Estimated Enrollment (submitted: May 20, 2015): 12
• Actual Study Completion Date: July 31, 2019
• Actual Primary Completion Date: July 31, 2019 (Final data collection date for primary outcome measure)

Eligibility Criteria

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.

Sex/Gender

• Sexes Eligible for Study: Male

• Ages: up to 14 Years (Child)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: United States

Administrative Information

• NCT Number: NCT02453152
• Other Study ID Numbers: IRB201500379
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

• IPD Sharing Statement: Not Provided
• Current Responsible Party: University of Florida
• Original Responsible Party: Same as current
• Current Study Sponsor: University of Florida
• Original Study Sponsor: Same as current
• Collaborators: Audentes Therapeutics

Investigators

• Principal Investigator: Barbara K Smith, PT, PhD; University of Florida

• PRS Account: University of Florida
• Verification Date: February 2021