A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: No Intervention.
- Who it may be relevant to
- Registry conditions: X-Linked Myotubular Myopathy. Basic parameters: up to 17 years · Male.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States, Canada, United Kingdom
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
Overview
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.
Interventions
- Other No Intervention
No investigational drug will be administered to participants in this study.
Primary outcome measures
- Incidence rate of cholestasis [Time frame: Up to Week 48]
- Point prevalence of cholestasis [Time frame: Day 1]
- Prevalence of cholestasis [Time frame: Up to 1 year]
Secondary outcome measures (9)
- Genetic variants of MTM1 [Time frame: Up to Week 48]
- Risk of cholestasis temporarily associated with environmental modifiers [Time frame: Up to Week 48]
- Hospitalizations [Time frame: Up to Week 48]
- Duration of Hospitalizations [Time frame: Up to Week 48]
- Emergency room visits [Time frame: Up to Week 48]
- Hepatology specialist visits [Time frame: Up to Week 48]
- Scheduled/unscheduled office visits [Time frame: Up to Week 48]
- Non-study-specified home healthcare visits [Time frame: Up to Week 48]
- Surgeries/procedures [Time frame: Up to Week 48]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
United States · 6 centers
- Ann & Robert H. Lurie Children's Hospital of Chicago — Chicago
- Boston Children's Hospital — Boston
- Cincinnati Children's Hospital Medical Center — Cincinnati
- Children's Hospital of Philadelphia — Philadelphia
- UPMC Children's Hospital of Pittsburgh — Pittsburgh
- University of Utah — Salt Lake City
United Kingdom · 3 centers
- Site GB44006 — Leeds
- Site GB44003 — London
- Site GB44005 — Oxford
Canada · 1 center
- Site CA15001 — Toronto
Identifiers
NCT: NCT06581146 · 1600-MA-3536