X-Linked Myotubular Myopathy
Conditions
Keywords
XLMTM, Hepatobiliary
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.
Interventions
OTHERNo Intervention
No investigational drug will be administered to participants in this study.
Sponsors
Astellas Gene Therapies
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
No minimum to 17 Years
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Incidence rate of cholestasis | Up to Week 48 | Calculated as the number of new cases of cholestasis over 48 weeks divided by total duration of follow-up for enrolled participants. |
| Point prevalence of cholestasis | Day 1 | 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). |
| Prevalence of cholestasis | Up to 1 year | 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). |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Genetic variants of MTM1 | Up to Week 48 | The association between genetic variants of MTM1 and cholestasis will be evaluated. |
| Risk of cholestasis temporarily associated with environmental modifiers | Up to Week 48 | Medication use, immunization history, infectious disease history and dietary habits will be collected. |
| Hospitalizations | Up to Week 48 | Frequency and reason for hospitalizations will be collected. |
| Duration of Hospitalizations | Up to Week 48 | Duration of hospitalization visits will be collected. |
| Emergency room visits | Up to Week 48 | Frequency and reason for visit will be collected. |
| Hepatology specialist visits | Up to Week 48 | Frequency and reason for visit will be collected. |
| Scheduled/unscheduled office visits | Up to Week 48 | Frequency and reason for visit will be collected. |
| Non-study-specified home healthcare visits | Up to Week 48 | Frequency and reason for visit will be collected. |
| Surgeries/procedures | Up to Week 48 | Frequency and type will be collected. |
Countries
Canada, United Kingdom, United States
Contacts
CONTACTAstellas Gene Therapies
STUDY_DIRECTORMedical Director
Astellas Gene Therapies
Outcome results
None listed