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

Overview

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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: July 31, 2019

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.

Interventions

  • 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: Peak cough flow
    • Subjects’ strongest coughs will be measured.
  • Other: Pediatric Evaluation of Disability Inventory
    • Assesses the functional capabilities of children with disabilities.
  • 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.

Arms, Groups and 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

Clinical Trial Outcome Measures

Primary Measures

  • 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 Measures

  • 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.

Participating in This Clinical Trial

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.

Gender Eligibility: Male

Minimum Age: N/A

Maximum Age: 14 Years

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University of Florida
  • Collaborator
    • Audentes Therapeutics
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Barbara K Smith, PT, PhD, Principal Investigator, University of Florida

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