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

NCT06581146 | Recruiting

• 1 other identifier: 1600-MA-3536
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 5

Brief 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

Keywords

XLMTM; Hepatobiliary

Outcome Measures

Primary Outcomes (3)

• Incidence rate of cholestasis

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

  Up to Week 48

• Point prevalence of cholestasis

  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).

  Day 1

• Prevalence of cholestasis

  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).

  Up to 1 year

Secondary Outcomes (9)

• Genetic variants of MTM1

  Up to Week 48

• Risk of cholestasis temporarily associated with environmental modifiers

  Up to Week 48

• Hospitalizations

  Up to Week 48

• Duration of Hospitalizations

  Up to Week 48

• Emergency room visits

  Up to Week 48

Study Arms (1)

Participants with XLMTM

Pediatric and adolescent participants with XLMTM.

Other: No Intervention

Interventions

No Intervention OTHER

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

Participants with XLMTM

Eligibility Criteria

• Age: Up to 17 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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.

You may not qualify if:

• Participant is currently enrolled in an interventional study designed to treat XLMTM.

Sponsors & Collaborators

• Astellas Gene Therapies: lead

Study Sites (5)

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

Chicago, Illinois, 60611, United States

RECRUITING

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

RECRUITING

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

RECRUITING

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

RECRUITING

UPMC Children's Hospital of Pittsburgh

Pittsburgh, Pennsylvania, 15224, United States

RECRUITING

MeSH Terms

Conditions

Myopathies, Structural, Congenital

Condition Hierarchy (Ancestors)

Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Medical Director

  Astellas Gene Therapies

  STUDY DIRECTOR

Central Study Contacts

Astellas Gene Therapies

CONTACT

800-888-7704; Astellas.registration@astellas.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 19, 2024
• First Posted: September 3, 2024
• Study Start: May 19, 2025
• Primary Completion (Estimated): May 31, 2027
• Study Completion (Estimated): May 31, 2027
• Last Updated: January 7, 2026

Record last verified: 2025-12

Data Sharing

• IPD Sharing: Will not share

Locations

US (5)