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

University of Florida28 enrolled

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.

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

Enrollment

Conditions

X-linked Myotubular Myopathy

Interventions

History and physicalOTHER

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

Tidal breathingOTHER

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

Maximal respiratory pressuresOTHER

Subjects' strongest inspiratory and expiratory pressures will be measured.

Eligibility

Sex: MALEMax age: 14 Years

Medical Language ↔ Plain English

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.

Locations (1)

University of Florida

Gainesville, Florida, United States

Outcomes

Primary Outcomes

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

Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit.

Subject's maximal inspiratory and expiratory pressures.

Time frame: Change in baseline visit, at 6 month visit and 12 month visit

Change in baseline peak cough flow 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.

Time frame: Change in baseline visit, at 6 month visit and 12 month visit

Change in baseline tidal breathing at 6 month visit and 12 month visit.

Subject's resting breathing pattern will be assessed.

Time frame: Change in baseline visit, at 6 month visit and 12 month visit

Data from ClinicalTrials.gov

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