A Non-interventional, Epidemiologic Study of XLMTM and Clinical Expression in the Liver
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 12
- 主要终点
- Incidence rate of cholestasis
研究概览
简要总结
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 17 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •Participant is currently enrolled in an interventional study designed to treat XLMTM.
研究组 & 干预措施
Participants with XLMTM
Pediatric and adolescent participants with XLMTM.
干预措施: No Intervention (Other)
结局指标
主要结局
Incidence rate of cholestasis
时间窗: 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
时间窗: 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
时间窗: 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).
次要结局
- Genetic variants of MTM1(Up to Week 48)
- Risk of cholestasis temporarily associated with environmental modifiers(Up to Week 48)
- Hospitalizations(Up to Week 48)
- Duration of Hospitalizations(Up to Week 48)
- Emergency room visits(Up to Week 48)
- Hepatology specialist visits(Up to Week 48)
- Scheduled/unscheduled office visits(Up to Week 48)
- Non-study-specified home healthcare visits(Up to Week 48)
- Surgeries/procedures(Up to Week 48)