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

CompletedOBSERVATIONAL
Enrollment

28

Participants

Timeline

Start Date

October 31, 2015

Primary Completion Date

July 31, 2019

Study Completion Date

July 31, 2019

Conditions
X-linked Myotubular Myopathy
Interventions
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.

Trial Locations (1)

32607

University of Florida, Gainesville

Sponsors

Collaborators (1)

All Listed Sponsors
collaborator

Audentes Therapeutics

INDUSTRY

lead

University of Florida

OTHER

NCT02453152 - Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM) | Biotech Hunter | Biotech Hunter