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

NCT ID: NCT06581146

Last Updated: 2026-01-07

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

50 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-05-19

Study Completion Date

2027-05-31

Brief Summary

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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.

Detailed Description

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Conditions

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X-Linked Myotubular Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Participants with XLMTM

Pediatric and adolescent participants with XLMTM.

No Intervention

Intervention Type OTHER

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

Interventions

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No Intervention

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

Intervention Type OTHER

Eligibility Criteria

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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.
Maximum Eligible Age

17 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

No

Sponsors

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Astellas Gene Therapies

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Medical Director

Role: STUDY_DIRECTOR

Astellas Gene Therapies

Locations

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

Chicago, Illinois, United States

Site Status RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, United States

Site Status RECRUITING

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Astellas Gene Therapies

Role: CONTACT

800-888-7704

Other Identifiers

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1600-MA-3536

Identifier Type: -

Identifier Source: org_study_id

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