Checking Liver Health in Boys with XLMTM
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
Recruiting
Observational Study
X-Linked Myotubular Myopathy
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- Up to 17
- Sex
- Male
- Study type
- Observational
- Participants needed
- 50 (estimated)
- Sponsor
- Astellas Gene Therapies · Industry
Who this trial is looking for
This trial is looking for boys under 18 who have been diagnosed with XLMTM. Participants will have their liver health checked regularly for about a year to understand liver problems better.
Are You a Good Fit for This Trial?
You may be able to join if
- I have been diagnosed with XLMTM.
- I have a genetic test confirming a mutation in the MTM1 gene.
- I need some mechanical ventilatory support.
- I or my parent/carer is willing to follow the study schedule.
You may not be able to join if
- I am currently enrolled in a study that treats XLMTM.
Summarized in plain language from this trial's official eligibility criteria. The full criteria are further down this page — only the research team can confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
Check Your Eligibility
About This Trial
XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition. It is caused by changes in the MTM1 gene which stops or slows down normal muscle development, causing severe muscle weakness. There is currently no cure for XLMTM. Ongoing care is needed to manage symptoms and prevent further medical problems from this condition.
Recent research shows that individuals with XLMTM often hav…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on genetic test reports.
* Participant requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to non-invasiv…
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