Monitoring liver health in boys with a genetic muscle condition

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• UCLA Neurological Services
  Santa Monica, California, United States Recruiting
• 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

Study contacts

• Study coordinator: Astellas Gene Therapies
• Email: Astellas.registration@astellas.com
• Phone: 800-888-7704

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• ASP2957 gene therapy for ventilator-dependent boys with X-linked myotubular myopathy

  This trial will try a one-time AAV gene therapy, ASP2957, in infants and young boys with XLMTM who need a ventilator to breathe most of the day.

  Recruiting at 5 sites Phase 1/2 Astellas Pharma Inc · Chicago, Illinois and 4 other locations · NCT07052929

• Registry for patients with myotubular and centronuclear myopathy

  This study is creating a registry to gather information from people with myotubular and centronuclear myopathy to help find participants for clinical trials and improve care for these conditions.

  Recruiting Newcastle-upon-Tyne Hospitals NHS Trust · Newcastle upon Tyne, Tyne and Wear · NCT04064307

• Research on genetic causes of congenital myopathies

  This study is trying to find out more about the genetic causes of congenital myopathies to help improve diagnosis and treatment for people born with these muscle diseases.

  Recruiting Boston Children's Hospital · Boston, Massachusetts · NCT00272883

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.