Pathology Analysis of OPMD Patient Myotomies
试验速览
- 阶段
- 不适用
- 入组人数
- 10
- 试验地点
- 1
- 主要终点
- Number of genes that show changes in RNA profile, measured by sequencing.
研究概览
简要总结
The study aims to characterize the effect of OPMD mutation on muscle function. Muscle samples will be received from oculopharyngeal muscular dystrophy (OPMD) patients who undergo cricopharyngeal muscle-cutting surgery, as part of their routine healthcare and treatment.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 18 Years 至 70 Years（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •OPMD patients both male and female.
- •OPMD patients between the ages 18-70 years.
- •OPMD patients who are referred to the cricopharyngeal muscle-cutting surgery as part of their usual treatment.
排除标准
- •OPMD patients not referred to the cricopharyngeal muscle-cutting surgery as part of their usual treatment.
结局指标
主要结局
Number of genes that show changes in RNA profile, measured by sequencing.
时间窗: Data will be collected within four years.
RNA profile analysis of OPMD muscle samples will be compared to unaffected muscle samples using sequencing to identify gene numbers.
Number of genes that show changes in protein profile, measured by SDS page.
时间窗: Data will be collected within four years.
Protein profile analysis of OPMD muscle samples will be compared to unaffected muscle samples to identify gene numbers using SDS page.
次要结局
未报告次要终点