Monitoring liver health in boys with a genetic muscle condition
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
Astellas Pharma Inc · NCT06581146
This study looks at how often boys with a genetic muscle condition called X-Linked Myotubular Myopathy have liver problems to better understand their health over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 50 (estimated) |
| Ages | N/A to 17 Years |
| Sex | Male |
| Sponsor | Astellas Pharma Inc (industry) |
| Locations | 6 sites (Chicago, Illinois and 5 other locations) |
| Trial ID | NCT06581146 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on boys diagnosed with X-Linked Myotubular Myopathy (XLMTM), a serious genetic muscle disorder caused by mutations in the MTM1 gene. The study aims to assess the prevalence of liver problems in these patients, as recent findings suggest that they may experience reduced bile flow affecting liver and gallbladder health. Participants will undergo regular assessments to monitor liver health over time, with their treating physicians managing any necessary interventions. The study is purely observational, meaning no treatments will be administered as part of the research.
Who should consider this trial
Good fit: Ideal candidates are boys diagnosed with XLMTM who require some form of mechanical ventilatory support.
Not a fit: Patients currently enrolled in interventional studies aimed at treating XLMTM may not benefit from this observational study.
Why it matters
Potential benefit: If successful, this study could enhance the understanding of liver health issues in boys with XLMTM, leading to better management strategies.
How similar studies have performed: While this study is observational and focuses on liver health in XLMTM, similar studies have shown the importance of monitoring associated health issues in genetic conditions.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Chicago, Illinois and 5 other locations
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago, Illinois, United States (RECRUITING)
- Boston Children's Hospital — Boston, Massachusetts, United States (RECRUITING)
- Cincinnati Children's Hospital Medical Center — Cincinnati, Ohio, United States (RECRUITING)
- Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (RECRUITING)
- UPMC Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (RECRUITING)
- University of Utah — Salt Lake City, Utah, United States (RECRUITING)
Study contacts
- Study coordinator: Astellas Gene Therapies
- Email: Astellas.registration@astellas.com
- Phone: 800-888-7704
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: X-Linked Myotubular Myopathy, XLMTM, Hepatobiliary