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Gainesville, Florida 32607


Purpose:

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 summary:

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.


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.


NCT ID:

NCT02453152


Primary Contact:

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


Backup Contact:

N/A


Location Contact:

Gainesville, Florida 32607
United States



There is no listed contact information for this specific location.

Site Status: N/A


Data Source: ClinicalTrials.gov

Date Processed: January 21, 2020

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