A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
This study aims to understand liver health in boys with X-linked myotubular myopathy (XLMTM), a serious genetic muscle condition. Recent findings suggest XLMTM can affect the liver and gallbladder. There's no cure for XLMTM, so managing symptoms is key. This study will track how many boys develop new liver problems over about a year. It's an 'observational' study, meaning no new treatments are given; doctors still decide all care. Researchers will check liver and gallbladder health, including using a special scan called a Fibroscan, every six weeks, sometimes at home. The goal is to improve care for XLMTM patients and guide future research.
At a glance
What is this study about?
X-linked myotubular myopathy, or XLMTM, is a serious condition that affects boys from birth. It's caused by a genetic change that stops muscles from developing properly, leading to severe weakness. Because there's currently no cure, treatment focuses on managing symptoms and preventing further health problems.
Recent research has shown that boys and young men with XLMTM can sometimes have issues with their liver and gallbladder, often due to problems with bile flow. Bile is a liquid made by the liver that's important for digesting fats. To better understand these liver and gallbladder issues, this study aims to track them over time in boys with XLMTM. The main goal is to find out how many boys develop new liver, gallbladder, or bile duct problems during the study period.
This is an 'observational' study, which means researchers will only be collecting information about participants' health. No new treatments will be given as part of the study; all medical decisions, including any treatments, will continue to be made by your child's usual doctors. This study will help doctors understand these liver-related problems better, which could lead to improved care for boys with XLMTM and inform future research.
Key takeaways
- Study focuses on severe genetic muscle condition (XLMTM) in boys.
- Aims to understand liver, gallbladder, and bile duct health over time.
- It's an 'observational' study – no new treatments are given.
- Participation involves health checks every 6 weeks, including Fibroscans.
- Information gathered will help improve future care for XLMTM.
- All medical care decisions remain with your child's usual doctors.
Who may be eligible?
To be considered for this study, your son must be under 18 years old and have a confirmed diagnosis of XLMTM, meaning a genetic test has shown a change in the MTM1 gene.
Also, he must need some form of breathing support, whether it's full-time help from a breathing machine or non-invasive support like CPAP or BiPAP mainly during sleep. Finally, you and your son (if he's old enough) need to be willing to follow the study schedule and attend all necessary appointments or assessments.
Your son cannot be in another study that is testing a new treatment specifically for XLMTM. This is to ensure the information collected is solely about the natural progression of liver health in XLMTM.
Could this study suit you?
Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.
- Is your son under 18 years old?
- Does he have a confirmed diagnosis of XLMTM with a change in the MTM1 gene?
- Does he need some type of breathing support (e.g., full-time or only at night)?
- Are you and your son willing to attend scheduled study check-ups?
- Is your son NOT currently in another study testing a new treatment for XLMTM?
What does participation involve?
If your son takes part, he will be followed for about one year. During this time, his liver and gallbladder health will be checked approximately every six weeks. These check-ups can sometimes be done at home for convenience. He will have a special scan called a Fibroscan at the beginning of the study and again at the end. This scan is a non-invasive way to check for signs of scarring or fat build-up in the liver. No new medications or treatments will be given as part of this study; all medical care will continue to be managed by his usual doctor. This study is purely about gathering information.
Potential risks and benefits
Locations (9)
- Ann & Robert H. Lurie Children's Hospital of ChicagoVerified postcodeChicago, United States· Recruiting
- Boston Children's HospitalVerified postcodeBoston, United States· Recruiting
- Cincinnati Children's Hospital Medical CenterVerified postcodeCincinnati, United States· Recruiting
- Children's Hospital of PhiladelphiaVerified postcodePhiladelphia, United States· Recruiting
- UPMC Children's Hospital of PittsburghVerified postcodePittsburgh, United States· Recruiting
- University of UtahVerified postcodeSalt Lake City, United States· Recruiting
- Site GB44006Verified postcodeLeeds, United Kingdom· Recruiting
- Site GB44003Verified postcodeLondon, United Kingdom· Recruiting
- Site GB44005Verified postcodeOxford, United Kingdom· Recruiting
Common questions
What is XLMTM?
XLMTM (X-linked myotubular myopathy) is a serious genetic condition that affects boys, causing severe muscle weakness because muscles don't develop properly.
Why is this study looking at the liver?
Recent findings suggest that individuals with XLMTM can sometimes have reduced bile flow, which might affect their liver and gallbladder health. This study aims to understand these issues better.
Will my son receive new medicine or treatment in this study?
No, this is an 'observational' study, meaning researchers only collect information. Your son's doctors will continue to manage his care and any treatments as usual.
What is a Fibroscan?
A Fibroscan is a special, painless scan that checks for scarring (fibrosis) and fat build-up in the liver. It's similar to an ultrasound.
How long will my son be part of the study?
If your son joins, he will be followed for approximately one year.
How to find out more
Astellas Gene Therapies
Always speak to your GP or specialist before deciding to take part in a study.
Interested in taking part?
Discussion
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