Ireland
--:--IST
Latest
Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide Astellas Expands Its 330 Million Euro Tralee Biopharma Facility with a Second Aseptic Filling Line to Double Drug-Product Capacity Xeolas Pharmaceuticals Opens 158,000 Sq Ft State-of-the-Art Baldoyle Facility to Scale Specialty Medicine Manufacturing Priya Life Science Partners with Fleming for the 9th Annual Corporate Compliance & Transparency in Life Sciences Summit in Zurich Ireland Has the Capital and the Lessons: Digital Project Management Is How They Become Delivery Dunbar Pharma Brings First Plant-Derived Dronabinol API to UK Market Through IPS Pharma Leveraging Priya Life Science as a Data Tracker: The Ultimate Use Case & Career Guide
Clinical Trials in the UK / NCT06581146
Recruiting Observational

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

NCT06581146 · tracked via the Priya Life Science UK tracker
Sponsor
Astellas Gene Therapies
Phase
Observational
Started
2025-05-19
Last updated
2026-09-30

Condition(s) studied

X-Linked Myotubular Myopathy

Investigational drug(s) / intervention(s)

No Intervention

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

Study 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.

Eligibility

Sex
MALE
Min age
—
Max age
17 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

  • Incidence rate of cholestasis — 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.
  • Point prevalence of cholestasis — 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).
  • Prevalence of cholestasis — 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).

Trial sites (11)

FacilityCityRegionStatus
UCLA Neurological Services Santa Monica California Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago Chicago Illinois Recruiting
Boston Children's Hospital Boston Massachusetts Recruiting
Cincinnati Children's Hospital Medical Center Cincinnati Ohio Recruiting
Children's Hospital of Philadelphia Philadelphia Pennsylvania Recruiting
UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania Recruiting
University of Utah Salt Lake City Utah Recruiting
Site CA15001 Toronto Ontario Recruiting
Site GB44006 Leeds United Kingdom Recruiting
Site GB44003 London United Kingdom Recruiting
Site GB44005 Oxford United Kingdom Recruiting

More Astellas Gene Therapies trials in the UK

Gene Transfer Study in Patients With Late Onset Pompe Disease Active, not recruiting
A Study About Antibody Levels and Biomarkers in the Blood in People With Late-onset Pompe Disease Active, not recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06581146 on ClinicalTrials.gov ↗ ← All trials in the UK