Actively Recruiting
A Non-interventional, Observational Study of Liver Health in Boys With X-Linked Myotubular Myopathy (XLMTM)
Led by Astellas Gene Therapies · Updated on 2026-05-28
50
Participants Needed
9
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
This research aims to better understand liver problems that develop over time in boys with X-linked myotubular myopathy (XLMTM), a serious genetic muscle disorder caused by changes in the MTM1 gene. XLMTM leads to severe muscle weakness and currently has no cure. Recent findings suggest that individuals with XLMTM often have reduced bile flow, which can affect liver and gallbladder health, making ongoing liver health checks important. The study is observational, meaning no investigational treatment will be given. Boys under 18 years old with genetically confirmed XLMTM will be followed for about one year. Their liver and gallbladder health will be monitored approximately every six weeks, including optional at-home visits. A special scan called a Fibroscan will be done at the start and end of the study to check for liver scarring and fat buildup. The study collects information only, with treatment decisions made by the participant's doctor. Participants will have regular liver health assessments, including scans and evaluations of hospital and emergency visits related to liver issues. Researchers will track new and existing cases of cholestasis (a liver condition) and other liver-related events during the study. The goal is to improve understanding of liver, gallbladder, and bile duct problems in XLMTM, helping to guide future care and research.
CONDITIONS
Brief Title
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Participant has a diagnosis of XLMTM confirmed by genetic testing of the MTM1 gene
- Participant requires some mechanical breathing support, ranging from full-time ventilation to non-invasive support like CPAP or BiPAP during sleep
- Participant and/or parent or caregiver is willing to follow the study schedule of assessments
You will not qualify if you...
- Participant is currently enrolled in another interventional study for XLMTM treatment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 48 weeks
Participants with XLMTM are observed for liver health and related clinical outcomes.
Scheduled and unscheduled office visits, hepatology specialist visits, and home healthcare visits during the study period
Duration - Up to 1 year
Participants continue to be observed for cholestasis prevalence and liver health up to one year.
Additional assessments may occur depending on clinical needs
Trial Site Locations
Total: 9 locations
1
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, United States, 60611
Actively Recruiting
2
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
3
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States, 45229
Actively Recruiting
4
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
5
UPMC Children's Hospital of Pittsburgh
Pittsburgh, Pennsylvania, United States, 15224
Actively Recruiting
6
University of Utah
Salt Lake City, Utah, United States, 84112
Actively Recruiting
7
Site GB44006
Leeds, United Kingdom
Actively Recruiting
8
Site GB44003
London, United Kingdom
Actively Recruiting
9
Site GB44005
Oxford, United Kingdom
Actively Recruiting
Research Team
A
Astellas Gene Therapies
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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