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

Completed

• Conditions: X-linked Myotubular Myopathy
• 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

• Registration Number: NCT02453152
• Lead Sponsor: University of Florida

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 Timeline

• Study First Submitted: 2015-05-18
• Study First Submitted QC: 2015-05-20
• Study First Posted: 2015-05-25
• Study Start: 2015-10
• Primary Completion: 2019-07-31
• Study Completion: 2019-07-31
• Status Verified: 2021-02
• Last Update Submitted: 2021-02-11
• Last Update Posted: 2021-02-15

Recruitment & Eligibility

• Status: COMPLETED
• Sex: Male
• Target Recruitment: 28

Inclusion Criteria

• Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
• Patients who are between 0 and 14 years of age.

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Males with X-linked myotubular myopathy	Peak cough flow	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	PedsQL Multidimensional Fatigue Scale	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	Pediatric Evaluation of Disability Inventory	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	Review of ventilation requirements	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	History and physical	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	Tidal breathing	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
Males with X-linked myotubular myopathy	Maximal respiratory pressures	History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements

Primary Outcome Measures

Name	Time	Method
Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.	Change in baseline visit, at 6 month visit and 12 month visit

Secondary Outcome Measures

Name	Time	Method
Change in baseline tidal breathing at 6 month visit and 12 month visit.	Change in baseline visit, at 6 month visit and 12 month visit	Subject's resting breathing pattern will be assessed.
Change in baseline peak cough flow at 6 month visit and 12 month visit.	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 visit maximal respiratory pressures at 6 month visit, and 12 month visit.	Change in baseline visit, at 6 month visit and 12 month visit	Subject's maximal inspiratory and expiratory pressures.

Trial Locations

Locations (1)

University of Florida; 🇺🇸 Gainesville, Florida, United States