Actively Recruiting
A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
Led by Astellas Gene Therapies · Updated on 2026-04-07
50
Participants Needed
6
Research Sites
106 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official 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 a genetic test showing mutation in the MTM1 gene
- Participant requires some mechanical ventilatory support, ranging from full-time ventilation to non-invasive support like CPAP or BiPAP during sleep
- Participant and/or parent or caregiver agrees to follow the study assessment schedule
You will not qualify if you...
- Participant is currently enrolled in an interventional study aimed at treating XLMTM
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 6 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
Research Team
A
Astellas Gene Therapies
CONTACT
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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