New study aims to uncover hidden liver risks in rare muscle disease

NCT ID NCT06581146

First seen Jun 25, 2026 · Last updated Jul 17, 2026 · Updated 4 times

Summary

This study follows about 50 boys under 18 with X-linked myotubular myopathy (XLMTM), a rare genetic muscle condition, to see how often they develop liver problems like cholestasis. No drugs are given—researchers simply collect health data, including liver scans, over one year. The goal is to better understand liver and gallbladder issues in XLMTM to improve care and guide future studies.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this study could help doctors better monitor and manage liver issues in boys with XLMTM, potentially improving their routine care.
What could go wrong
This is an observational study with no treatment being tested, so it won't directly change outcomes. It only follows 50 boys for one year, which may not capture all liver problems.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Ann & Robert H. Lurie Children's Hospital of Chicago

    RECRUITING

    Chicago, Illinois, 60611, United States

  • Boston Children's Hospital

    RECRUITING

    Boston, Massachusetts, 02115, United States

  • Children's Hospital of Philadelphia

    RECRUITING

    Philadelphia, Pennsylvania, 19104, United States

  • Cincinnati Children's Hospital Medical Center

    RECRUITING

    Cincinnati, Ohio, 45229, United States

  • Site CA15001

    RECRUITING

    Toronto, Ontario, Canada

  • Site GB44003

    RECRUITING

    London, United Kingdom

  • Site GB44005

    RECRUITING

    Oxford, United Kingdom

  • Site GB44006

    RECRUITING

    Leeds, United Kingdom

  • UPMC Children's Hospital of Pittsburgh

    RECRUITING

    Pittsburgh, Pennsylvania, 15224, United States

  • University of Utah

    RECRUITING

    Salt Lake City, Utah, 84112, United States

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