A Study to Check Liver Health in Boys With XLMTM, a Serious Genetic Muscle Condition
NCT Number: NCT06581146
Acronym: EXCEL
Status: NOT_YET_RECRUITING
Study Type: OBSERVATIONAL
Conditions: X-Linked Myotubular Myopathy
Interventions: OTHER: No Intervention
Sponsor: Astellas Gene Therapies
Sex: MALE
Age: CHILD
Enrollment: 50
Study Design: Observational Model: |Time Perspective: p
Start Date: 2024-09-30
Completion Date: 2026-04-30

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.

Primary Outcome Measures: Incidence rate of cholestasis, Calculated as the number of new cases of cholestasis over 48 weeks divided by total duration of follow-up for enrolled participants., Up to Week 48|Point prevalence of cholestasis, 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)., Day 1|Prevalence of cholestasis, 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)., Up to 1 year
Secondary Outcome Measures: Genetic variants of MTM1, The association between genetic variants of MTM1 and cholestasis will be evaluated., Up to Week 48|Risk of cholestasis temporarily associated with environmental modifiers, Medication use, immunization history, infectious disease history and dietary habits will be collected., Up to Week 48|Hospitalizations, Frequency and reason for hospitalizations will be collected., Up to Week 48|Duration of Hospitalizations, Duration of hospitalization visits will be collected., Up to Week 48|Emergency room visits, Frequency and reason for visit will be collected., Up to Week 48|Hepatology specialist visits, Frequency and reason for visit will be collected., Up to Week 48|Scheduled/unscheduled office visits, Frequency and reason for visit will be collected., Up to Week 48|Non-study-specified home healthcare visits, Frequency and reason for visit will be collected., Up to Week 48|Surgeries/procedures, Frequency and type will be collected., Up to Week 48