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

NCT06581146 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 50

Last updated 2026-04-07

No results posted yet for this study

Summary

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.

Conditions

  • X-Linked Myotubular Myopathy

Interventions

OTHER

No Intervention

No investigational drug will be administered to participants in this study.

Sponsors & Collaborators

  • Astellas Gene Therapies

    lead INDUSTRY

Principal Investigators

  • Medical Director · Astellas Gene Therapies

Eligibility

Max Age
17 Years
Sex
MALE
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-05-19
Primary Completion
2027-05-31
Completion
2027-05-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06581146 on ClinicalTrials.gov