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

X-linked Myotubular Myopathy Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02453152
• Other study ID #: IRB201500379
• Status: Completed
• Start date: October 2015
• Est. completion date: July 31, 2019

Study information

• Verified date: February 2021
• Source: University of Florida
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 28
• Est. completion date: July 31, 2019
• Est. primary completion date: July 31, 2019
• Accepts healthy volunteers: No
• Gender: Male
• Age group: N/A to 14 Years

Eligibility

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.

Related Conditions & MeSH terms

• Muscular Diseases
• X-linked Myotubular Myopathy

Intervention

Other:
• History and physical
Subjects will undergo a physical exam and medical history review, including review of genetic test results.
• Tidal breathing
Subjects' breathing patterns will be evaluated at rest and at reduced/eliminated ventilator support.
• Maximal respiratory pressures
Subjects' strongest inspiratory and expiratory pressures will be measured.
• Peak cough flow
Subjects' strongest coughs will be measured.
• Pediatric Evaluation of Disability Inventory
Assesses the functional capabilities of children with disabilities.
• PedsQL Multidimensional Fatigue Scale
Assesses general fatigue, sleep/rest fatigue, and cognitive fatigue.
• Review of ventilation requirements
Subjects's use of mechanical ventilation reviewed by the study team.

Locations

Country	Name	City	State
United States	University of Florida	Gainesville	Florida

Sponsors (2)

Lead Sponsor	Collaborator
University of Florida	Audentes Therapeutics

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.		Change in baseline visit, at 6 month visit and 12 month visit
Secondary	Change in baseline visit maximal respiratory pressures 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
Secondary	Change in baseline peak cough flow 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
Secondary	Change in baseline tidal breathing 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