Clinical trial NCT06581146: A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
Official title: A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: X-Linked Myotubular Myopathy
Keywords: XLMTM
Hepatobiliary
Lead sponsor: Astellas Pharma Inc
Sponsor class: INDUSTRY
First posted: 2024-09-03
Enrollment: 50
Sex: MALE
Maximum age (years): 17
Standard ages: CHILD
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Approximately 50 male participants \< 18 years of age with genetically confirmed XLMTM will be enrolled at specialist sites.

Brief 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 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) or legally authorized representative (LAR(s)) 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 outcomes:
measure: Incidence rate of cholestasis
timeFrame: Up to Week 48
measure: Point prevalence of cholestasis
timeFrame: Day 1
measure: Prevalence of cholestasis
timeFrame: Up to 1 year
Secondary outcomes:
measure: Genetic variants of MTM1
timeFrame: Up to Week 48
measure: Risk of cholestasis temporarily associated with environmental modifiers
timeFrame: Up to Week 48
measure: Hospitalizations
timeFrame: Up to Week 48
measure: Duration of Hospitalizations
timeFrame: Up to Week 48
measure: Emergency room visits
timeFrame: Up to Week 48
measure: Hepatology specialist visits
timeFrame: Up to Week 48
measure: Scheduled/unscheduled office visits
timeFrame: Up to Week 48
measure: Non-study-specified home healthcare visits
timeFrame: Up to Week 48
measure: Surgeries/procedures
timeFrame: Up to Week 48
Other outcomes:
Locations:
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
Study officials:
affiliation: Astellas Gene Therapies
name: Medical Director
role: STUDY_DIRECTOR
References: