CompletedNot Applicable

A Medical Chart Review of Patients With X-Linked Myotubular Myopathy (XLMTM)

United States, United Kingdom161 participantsStarted 2014-09

Plain-language summary

This retrospective medical chart review (RECENSUS) of approximately 100 XLMTM patients (with a goal to obtain 50 deceased and 20 living records) will provide further knowledge about the clinical manifestations and recorded medical management of XLMTM and potentially inform the design of future therapeutic intervention studies.

Who can participate

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: * Patient diagnosed with XLMTM resulting from a confirmed mutation in the MTM1 gene, or a combination of XLMTM genetically confirmed family history and muscle biopsy * Patient is male * Access to available medical records for each patient * Signed informed consent by the parent(s) or legal guardians and/or assent by the patient (when applicable), unless the associated IRB provides an appropriate consent waiver Exclusion Criteria: * Patient data after participation in an interventional study designed to treat XLMTM (patient data prior to participation in an interventional study may be included)

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

Survival

Timeframe: Lifetime, up to 50 years

Trial details

NCT IDNCT02231697

SponsorAstellas Gene Therapies

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2019-12

View on ClinicalTrials.gov More Males With X-linked Myotubular Myopathy (XLMTM) trials

Plain-language summary

Who can participate

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.