Respiratory Muscle Function in Untreated X-Linked Myotubular Myopathy (XLMTM)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 28
- 试验地点
- 1
- 主要终点
- Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.
研究概览
简要总结
This study is a longitudinal study evaluating the severity and progression of respiratory muscle function in patients with X-Linked Myotubular Myopathy (XLMTM) aged 0-14.
详细描述
Subjects aged 0-7 will be evaluated every six months for a total of three evaluations (Baseline, Six-Month Visit, Twelve-Month Visit). Subjects aged 8-14 will be evaluated every twelve months for a total of two evaluations (Baseline, Twelve-Month Visit). Evaluations include medical history, physical exam, respiratory muscle tests, a qualitative interview related to the child's function and use of respiratory aids, and quality of life assessments.
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 14 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Patients who have centronuclear myopathy resulting from an MTM1 genetic mutation.
- •Patients who are between 0 and 14 years of age.
排除标准
- •Patients without a confirmed genetic mutation.
- •Patients unable to travel to the site for the study.
- •Patients participating in an interventional treatment study for XLMTM at the time of enrollment.
- •Patients who are unable to complete study procedures.
- •Patients who have a condition that, in the opinion of the investigator, would make participation in this study unsafe.
结局指标
主要结局
Change in baseline visit off-ventilator tolerance at 6 month visit and 12 month visit.
时间窗: Change in baseline visit, at 6 month visit and 12 month visit
次要结局
- Change in baseline tidal breathing at 6 month visit and 12 month visit.(Change in baseline visit, at 6 month visit and 12 month visit)
- Change in baseline peak cough flow at 6 month visit and 12 month visit.(Change in baseline visit, at 6 month visit and 12 month visit)
- Change in baseline visit maximal respiratory pressures at 6 month visit, and 12 month visit.(Change in baseline visit, at 6 month visit and 12 month visit)