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Completed

NCT Number: NCT02453152

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

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.

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Key information

Conditions

X-linked Myotubular Myopathy Muscular Diseases Musculoskeletal Diseases Myopathies, Structural, Congenital Nervous System Diseases Neuromuscular Diseases

Age range

Up to 14 year

Sex eligibility

Male

Study type

Observational

Primary location

University of Florida

Gainesville, Florida, 32607, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

History and physical

Other

Subjects will undergo a physical exam and medical history review, including review of genetic test results.

Tidal breathing

Other

Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.

Maximal respiratory pressures

Other

Subjects' strongest inspiratory and expiratory pressures will be measured.

Other names: MIP, MEP

Peak cough flow

Other

Subjects' strongest coughs will be measured.

Pediatric Evaluation of Disability Inventory

Other

Assesses the functional capabilities of children with disabilities.

Other names: PEDI

PedsQL Multidimensional Fatigue Scale

Other

Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.

Review of ventilation requirements

Other

Subjects's use of mechanical ventilation reviewed by the study team.

Primary outcomes

  1. 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 outcomes

  1. 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.

  2. 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.

  3. 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.

Sponsors and collaborators

Lead sponsor

University of Florida

Other

Collaborators

  • Audentes Therapeutics

Registry information

Important dates

Study start
2015
Primary completion
2019
Study completion
2019
First posted
May 25, 2015
Registry last updated
Feb 15, 2021

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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