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

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

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.