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

NCT02453152 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 28

Last updated 2021-02-15

No results posted yet for this study

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.

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.

Sponsors & Collaborators

  • Audentes Therapeutics

    collaborator INDUSTRY

  • University of Florida

    lead OTHER

Principal Investigators

  • Barbara K Smith, PT, PhD · University of Florida

Eligibility

Max Age
14 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2015-10-31
Primary Completion
2019-07-31
Completion
2019-07-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02453152 on ClinicalTrials.gov