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

NCT ID: NCT02453152

Last Updated: 2021-02-15

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

28 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-10-31

Study Completion Date

2019-07-31

Brief Summary

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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

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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

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X-linked Myotubular Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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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

History and physical

Intervention Type OTHER

Subjects will undergo a physical exam and medical history review, including review of genetic test results.

Tidal breathing

Intervention Type OTHER

Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.

Maximal respiratory pressures

Intervention Type OTHER

Subjects' strongest inspiratory and expiratory pressures will be measured.

Peak cough flow

Intervention Type OTHER

Subjects' strongest coughs will be measured.

Pediatric Evaluation of Disability Inventory

Intervention Type OTHER

Assesses the functional capabilities of children with disabilities.

PedsQL Multidimensional Fatigue Scale

Intervention Type OTHER

Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.

Review of ventilation requirements

Intervention Type OTHER

Subjects's use of mechanical ventilation reviewed by the study team.

Interventions

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History and physical

Subjects will undergo a physical exam and medical history review, including review of genetic test results.

Intervention Type OTHER

Tidal breathing

Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.

Intervention Type OTHER

Maximal respiratory pressures

Subjects' strongest inspiratory and expiratory pressures will be measured.

Intervention Type OTHER

Peak cough flow

Subjects' strongest coughs will be measured.

Intervention Type OTHER

Pediatric Evaluation of Disability Inventory

Assesses the functional capabilities of children with disabilities.

Intervention Type OTHER

PedsQL Multidimensional Fatigue Scale

Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.

Intervention Type OTHER

Review of ventilation requirements

Subjects's use of mechanical ventilation reviewed by the study team.

Intervention Type OTHER

Other Intervention Names

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MIP, MEP PEDI

Eligibility Criteria

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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.
Maximum Eligible Age

14 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Audentes Therapeutics

INDUSTRY

Sponsor Role collaborator

University of Florida

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Barbara K Smith, PT, PhD

Role: PRINCIPAL_INVESTIGATOR

University of Florida

Locations

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University of Florida

Gainesville, Florida, United States

Site Status

Countries

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United States

Other Identifiers

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IRB201500379

Identifier Type: -

Identifier Source: org_study_id

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