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

NCT ID NCT06581146

Knowledge-focused Sponsor: Astellas Gene Therapies Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now This study
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 25, 2026 · Last updated Aug 13, 2026 · Updated 6 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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 50 people

The number the study aims to enrol. It can still change while the study runs.

Started

May 2025

Expected to finish

Dec 2027

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Approximately 50 male participants \< 18 years of age with genetically confirmed XLMTM will be enrolled at specialist sites.

Ages

Up to 17 years

Sex

Male participants only

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Participant has a diagnosis of XLMTM resulting from a genetically confirmed mutation in the MTM1 gene based on genetic test reports. * Participant requires some mechanical ventilatory support (e.g., ranging from 24 hours per day full-time mechanical ventilation, to non-invasive support such as continuous positive airway pressure (CPAP) or bilevel positive airway pressure (BiPAP) during sleeping hours) * Participant (as applicable) and/or parent(s)/carer is willing to comply with the recommended schedule of assessments. Exclusion Criteria: * Participant is currently enrolled in an interventional study designed to treat XLMTM.

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Conditions

The condition(s) this trial relates to.

congenital structural myopathy X-linked myotubular myopathy

As listed by the trial registrant

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

X-linked myotubular myopathy

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    11 sites in 3 countries. The list below names each one and where it is.

  2. The official record

    ClinicalTrials.gov lists the study team's own contact details, including names and phone numbers. We don't republish those.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

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

  • UCLA Neurological Services

    RECRUITING

    Santa Monica, California, 90401-2072, United States

  • 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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