The Rare Disease Clinical Research Network Natural History Study of MNGIE
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- Timed Water Swallow
研究概览
简要总结
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The investigators hope to learn more about the disease of MNGIE as well as develop useful measures of disease status for use in future clinical trials.
Additional clinical centers will be listed as they become available.
详细描述
The investigators will examine a total of 20 patients at six month intervals for up to five years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy, neuropsychological capability, quality of life, nutrition, motor function and biochemical parameters.
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
- 5 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Thymidine Phosphorylase (TP) defect:
- •homozygous or
- •compound heterozygous mutations in the TYMP gene, and/or
- •TP enzyme activity of <20% of normal.
- •Increased plasma Thd > 3 micromole/L
- •Increased plasma dUrd > 7.5 micromole/L
- •Age requirement of at least 5 years of age.
排除标准
- •Participation in an interventional (study medication or other experimental intervention) study (within 1 month of participation in this study).
- •Unable to travel to site for research visits.
- •Unwillingness to sign informed consent form.
- •Substance abuser
结局指标
主要结局
Timed Water Swallow
时间窗: 5 years
The timed water swallow test evaluates the time it takes to swallow a small cup of water
次要结局
- Degree of Neuropathy(5 years)