Observational Study on Liver Health in Boys Under 18 With X-Linked Myotubular Myopathy XLMTM

What this Trial Is About

X-linked myotubular myopathy XLMTM is a serious genetic muscle disorder caused by changes in the MTM1 gene that slow or stop normal muscle development, leading to severe muscle weakness. This condition currently has no cure and requires ongoing care to manage symptoms and prevent further health problems. Recent research indicates that XLMTM may also affect liver and gallbladder health due to reduced bile flow, highlighting the need to better understand liver problems in these individuals over time. This observational study follows boys under 18 years old diagnosed with XLMTM for about one year to monitor their liver and gallbladder health. Participants will undergo regular liver assessments approximately every six weeks, which can be done at home if preferred. A special liver scan called Fibroscan will be performed at the start and end of the study to check for liver scarring and lipid build-up. During the study, boys will have liver and gallbladder health checked through scans and other assessments to track new cases of liver problems, including cholestasis. Researchers will collect information on hospitalizations, specialist visits, and procedures related to liver health. The goal is to improve understanding of liver issues in XLMTM to help guide better care and future research. The study is observational, so treatment decisions are made by the participants doctor, not the study team.

A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition