NCT02453152

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 28 (actual)
• Sponsor: University of Florida · Academic / Other
• Sex: Male
• Age: 14 Years
• Healthy volunteers: Not accepted

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.

Conditions

• X-linked Myotubular Myopathy

Interventions

Type	Name	Description
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.

Timeline

• Start date: 2015-10-01
• Primary completion: 2019-07-31
• Completion: 2019-07-31
• First posted: 2015-05-25
• Last updated: 2021-02-15

Locations

1 site across 1 country: United States