CompletedNot Applicable

A Clinical Assessment Study in X-Linked Myotubular Myopathy (XLMTM) Subjects

United States, Canada, France34 participantsStarted 2016-07

Plain-language summary

This is a pre-Phase 1 prospective, non interventional clinical assessment study to evaluate XLMTM subjects aged 3 years and younger. Many of these clinically relevant measures have not yet been routinely assessed in this population and may provide important insight on the natural history of XLMTM and for future evaluation of potential therapies.

Who can participate

Age range

3 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: * Subject has a diagnosis of XLMTM resulting from a confirmed mutation in the MTM1 gene * Subject is male * Subject is aged less than 4 years * Subject requires some mechanical ventilatory support (eg, ranging from 24 hours per day full time mechanical ventilation, to noninvasive support such as continuous positive airway pressure \[CPAP\] or bilevel positive airway pressure \[BiPAP\] during sleeping hours) * Access to subject's medical records * Signed informed consent by the parent(s) or legally authorized representative(s) (LAR) (when applicable) * Subject and parent(s) or LAR are willing and able to comply with study visits and study procedures Exclusion Criteria: * Subject is participating in an interventional study designed to treat XLMTM * Subject born \<35 weeks gestation who is still not to term as per corrected age * Subject has a clinically important condition, or life-threatening disease other than XLMTM, in the opinion of the investigator * Subject has received pyridostigmine or any medication to treat XLMTM within 30 days of enrollment

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

Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax

Timeframe: 3 months to 2 years

Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20

Timeframe: 3 months to 2 years

Trial details

NCT IDNCT02704273

SponsorAstellas Gene Therapies

Sponsor typeINDUSTRY

Study typeOBSERVATIONAL

Primary completion2019-09

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

Plain-language summary

Who can participate

Age range

3 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.

What they're measuring

Characterize the disease course and natural history of XLMTM using respiratory assessment of strength as measured by PImax

Timeframe: 3 months to 2 years

Characterize the disease course and natural history of XLMTM using neuromuscular assessments, as measured by CHOP INTEND/MFM-20

Timeframe: 3 months to 2 years