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



Status:Recruiting
Conditions:Neurology
Therapuetic Areas:Neurology
Healthy:No
Age Range:Any - 14
Updated:8/24/2018
Start Date:October 2015
End Date:December 2019
Contact:Barbara K Smith, PT, PhD
Email:bksmith@phhp.ufl.edu
Phone:3522945315

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Trial Summary
Trial Overview
Inclusion Criteria
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.

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.

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.
We found this trial at
1
site
University of Florida
Gainesville, Florida 32610
(352) 392-3261
Phone: 352-273-6855
University of Florida The University of Florida (UF) is a major, public, comprehensive, land-grant, research...
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