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

Recruitingn/aAges any - 17 YearsMaleAstellas Gene Therapies
NCT06581146 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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

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📋 Eligibility rules (as published)
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.
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What it tests

  • No Intervention
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Where

11 sites
UCLA Neurological Services
Santa Monica, United States
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, United States
Boston Children's Hospital
Boston, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, United States
Children's Hospital of Philadelphia
Philadelphia, United States
UPMC Children's Hospital of Pittsburgh
Pittsburgh, United States
University of Utah
Salt Lake City, United States
Site CA15001
Toronto, Canada

…and 3 more on ClinicalTrials.gov.

🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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