CompletedNot Applicable

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

United States28 participantsStarted 2015-10

Plain-language 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.

Who can participate

Age range

14 Years

Sex

MALE

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.

Timeframe: Change in baseline visit, at 6 month visit and 12 month visit

Trial details

NCT IDNCT02453152

SponsorUniversity of Florida

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2019-07-31

View on ClinicalTrials.gov More X-linked Myotubular Myopathy trials