At a glance
- What the study gets you
- Health checks and monitoring — no treatment given
- Type of study
- Observational (no treatment given)
- Time in hospital
- In-person visits at study sites — visit count not specified by the sponsor
- Drug or intervention
- No Intervention (other)
- How long the study runs
- Study runs about 31 months (dates as stated)
- About the drug or intervention
- No Intervention — other: No investigational drug will be administered to participants in this study.
- Patient visit burden
- Not specified by the sponsor
- Type of study
- Observing health over time
- Ages
- Up to 17 Years
- Who
- Male
- Number of participants
- 50
- Started
- 2025-05-19
- Last checked
- 2026-09
Plain English Summary
What is this study?
- • Testing a new treatment for x-linked myotubular myopathy
- • Clinical study - 50 participants
- • XLMTM (X-linked myotubular myopathy) is a serious genetic muscle condition
Who can take part?
- • Ages Up to 17 Years
- • Diagnosed with x-linked myotubular myopathy
- • Male only
Where?
- • Leeds - Site GB44006
- • London - Site GB44003
- • Oxford - Site GB44005
This is a simplified summary. Always discuss with your doctor before making any decisions.
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 have reduced bile flow which can affect liver and gallbladder health. Bile is a liquid made in the liver that helps digest fat. Ongoing liver health checks may help with the routine care of people with XLMTM. There is a need to understand liver problems that develop in individuals with XLMTM over time. The main aim of the study is to learn how many boys with XLMTM have new cases of liver problems during the study. This study is about collecting information only. This is known as an observational study. The individual's doctor decides on treatment, not the study sponsor (Astellas). In this study, boys under 18 diagnosed with XLMTM will be followed for about 1 year. The health of their liver and gallbladder will be checked about every 6 weeks. This can be done at home, if preferred. A scan called a Fibroscan (also known as transient elastography) will check for signs of scarring in the liver (fibrosis) and the build-up of lipids. It is suggested that each boy will have a Fibroscan when they start the study and another scan when they complete the study. This study will help understand liver, gallbladder, and bile duct issues in individuals with XLMTM over time. The goal is to improve their care and provide information to use in future clinical studies.
How this trial compares with your answers
Answer 2 more questions to improve match
What we know so far
Still need:
- • Tell us your age for better matching
- • Tell us your sex for better matching
Preliminary match based on your answers. Full eligibility requires on-site assessment including medical history, physical exam, and lab tests. This does not guarantee enrolment.
Eligibility at a Glance
Key info
- Age: Up to 17 Years
- Who can join: Male only
Biomarkers mentioned
Treatment history
Treatments you must have had:
- ✓ some mechanical ventilatory support (e
What the study is looking for
- ✓Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on...
- ✓Participant (as applicable) and/or parent(s)/carer is willing to comply with the recommended schedule of assessments.
Who cannot take part
- ✗Participant is currently enrolled in an interventional study designed to treat XLMTM.
See the full criteria
Where Is This Study? (3 UK sites)
Site GB44006
Leeds, United Kingdom
Site GB44003
London, United Kingdom
Site GB44005
Oxford, United Kingdom
How to Get in Touch
Astellas Gene Therapies
Sponsor contactCONTACT