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

University of Florida

Status: Completed

Conditions: X-linked Myotubular Myopathy

Treatments: Other: Maximal respiratory pressures; Other: History and physical; Other: PedsQL Multidimensional Fatigue Scale; Other: Pediatric Evaluation of Disability Inventory; Other: Review of ventilation requirements; Other: Tidal breathing; Other: Peak cough flow

Study type: Observational

Funder types: Other; Industry

Identifiers

NCT02453152

IRB201500379

Details and patient eligibility

About

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.

Full 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.

Enrollment: 28 patients

Sex: Male

Ages: Under 14 years old

Volunteers: No Healthy Volunteers

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.

Trial design

28 participants in 1 patient group

Males with X-linked myotubular myopathy

Description:

History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements

Treatment:

Other: Peak cough flow

Other: Review of ventilation requirements

Other: Tidal breathing

Other: PedsQL Multidimensional Fatigue Scale

Other: Pediatric Evaluation of Disability Inventory

Other: History and physical

Other: Maximal respiratory pressures