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NCT Number: NCT06581146

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

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.

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Key information

Conditions

X-linked Myotubular Myopathy Muscular Diseases Musculoskeletal Diseases Myopathies, Structural, Congenital Nervous System Diseases Neuromuscular Diseases

Age range

Up to 17 year

Sex eligibility

Male

Study type

Observational

Primary location

Site CA15001, Toronto, Ontario, Canada

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

No intervention

Other

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

Primary outcomes

  1. Incidence rate of cholestasis

    Time frame: Up to Week 48

    Calculated as the number of new cases of cholestasis over 48 weeks divided by total duration of follow-up for enrolled participants.

  2. Point prevalence of cholestasis

    Time frame: Day 1

    Point prevalence of cholestasis is defined as the proportion of participants who have had at least 1 case of cholestasis prior to Day 1 (baseline).

  3. Prevalence of cholestasis

    Time frame: Up to 1 year

    Prevalence of cholestasis is defined as the proportion of participants who have had at least 1 case of cholestasis within 1 year of Day 1 (baseline).

Secondary outcomes

  1. Genetic variants of MTM1

    Time frame: Up to Week 48

    The association between genetic variants of MTM1 and cholestasis will be evaluated.

  2. Risk of cholestasis temporarily associated with environmental modifiers

    Time frame: Up to Week 48

    Medication use, immunization history, infectious disease history and dietary habits will be collected.

  3. Hospitalizations

    Time frame: Up to Week 48

    Frequency and reason for hospitalizations will be collected.

  4. Duration of Hospitalizations

    Time frame: Up to Week 48

    Duration of hospitalization visits will be collected.

  5. Emergency room visits

    Time frame: Up to Week 48

    Frequency and reason for visit will be collected.

  6. Hepatology specialist visits

    Time frame: Up to Week 48

    Frequency and reason for visit will be collected.

  7. Scheduled/unscheduled office visits

    Time frame: Up to Week 48

    Frequency and reason for visit will be collected.

  8. Non-study-specified home healthcare visits

    Time frame: Up to Week 48

    Frequency and reason for visit will be collected.

  9. Surgeries/procedures

    Time frame: Up to Week 48

    Frequency and type will be collected.

Study contacts

Contact information is provided by the study sponsor or research team.

Astellas Gene Therapies

CONTACT

[email protected]

800-888-7704

Sponsors and collaborators

Lead sponsor

Astellas Gene Therapies

Industry

Registry information

Official study title

A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver

Acronym: EXCEL

Important dates

Study start
2025
Primary completion
2027
Study completion
2027
First posted
Sep 3, 2024
Registry last updated
Jul 17, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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