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

February 11, 2021 updated by: University of Florida
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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

28

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Florida
      • Gainesville, Florida, United States, 32607
        • University of Florida

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 14 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

Male

Sampling Method

Non-Probability Sample

Study Population

Males with geneticially confirmed XLMTM

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Males with X-linked myotubular myopathy
History and physical, Tidal breathing, Maximal respiratory pressures, Peak cough flow, Pediatric Evaluation of Disability Inventory, PedsQL Multidimensional Fatigue Scale, Review of ventilation requirements
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 Names:
  • MIP, MEP
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 Names:
  • PEDI
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.
Time Frame: Change in baseline visit, at 6 month visit and 12 month visit
Change in baseline visit, at 6 month visit and 12 month visit

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Florida

Collaborators

Audentes Therapeutics

Investigators

  • Principal Investigator: Barbara K Smith, PT, PhD, University of Florida

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

October 1, 2015

Primary Completion (Actual)

July 31, 2019

Study Completion (Actual)

July 31, 2019

Study Registration Dates

First Submitted

May 18, 2015

First Submitted That Met QC Criteria

May 20, 2015

First Posted (Estimate)

May 25, 2015

Study Record Updates

Last Update Posted (Actual)

February 15, 2021

Last Update Submitted That Met QC Criteria

February 11, 2021

Last Verified

February 1, 2021

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB201500379

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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