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

• ClinicalTrials.gov Identifier: NCT02453152
• Recruitment Status: Completed
• First Posted: May 25, 2015
• Last Update Posted: February 15, 2021
• Sponsor: University of Florida
• Collaborator: Audentes Therapeutics
• Information provided by (Responsible Party): University of Florida

Study Description

Brief 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.

Condition or disease	Intervention/treatment
X-linked Myotubular Myopathy	Other: History and physical; Other: Tidal breathing; Other: Maximal respiratory pressures; Other: Peak cough flow; Other: Pediatric Evaluation of Disability Inventory; Other: PedsQL Multidimensional Fatigue Scale; Other: Review of ventilation requirements

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 Design

• Study Type: Observational
• Actual Enrollment: 28 participants
• Observational Model: Cohort
• Time Perspective: Prospective
• Official Title: Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
• Study Start Date: October 2015
• Actual Primary Completion Date: July 31, 2019
• Actual Study Completion Date: July 31, 2019

Groups and Cohorts

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 Name: 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 Name: 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.

Outcome Measures

Primary Outcome Measures :

1. 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 ]

Secondary Outcome Measures :

1. 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.
2. 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.
3. 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.

Eligibility Criteria

• Ages Eligible for Study: up to 14 Years (Child)
• Sexes Eligible for Study: Male
• Accepts Healthy Volunteers: No
• Sampling Method: Non-Probability Sample

Study Population

Males with geneticially confirmed XLMTM

Criteria

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.

Contacts and Locations

Locations

United States, Florida

University of Florida

Gainesville, Florida, United States, 32607

Sponsors and Collaborators

University of Florida

Audentes Therapeutics

Investigators

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

More Information

• Responsible Party: University of Florida
• ClinicalTrials.gov Identifier: NCT02453152
• Other Study ID Numbers: IRB201500379
• First Posted: May 25, 2015
• Last Update Posted: February 15, 2021
• Last Verified: February 2021

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University of Florida:

myotubular myopathy; respiratory muscles; natural history

Additional relevant MeSH terms:

Muscular Diseases; Myopathies, Structural, Congenital; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases