A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition (NCT06581146)
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: UCLA Neurological Services — Santa Monica, California
Age range: Not specified to 17 Years
🧪 Interventions in This Study
- No Intervention (OTHER)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (11 Sites)
- UCLA Neurological Services — Santa Monica, California
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois
- Boston Children's Hospital — Boston, Massachusetts
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania
- UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania
- University of Utah — Salt Lake City, Utah
- Site CA15001 — Toronto, Ontario
- Site GB44006 — Leeds,
- Site GB44003 — London,
- Site GB44005 — Oxford,
📞 Contact the Study Coordinator
Phone: (800) 888-7704
Email: Astellas.registration@astellas.com
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in X-Linked Myotubular Myopathy
- A Study of AT132 in Young Children With X-Linked Myotubular Myopathy (XLMTM) — Los Angeles, California
- Study of ASP2957 in Male Participants With X-linked Myotubular Myopathy Who Need Ventilators — Chicago, Illinois
Explore by condition: All X-Linked Myotubular Myopathy clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.