Correlation of Disease Expression With Specific Genetic Mutations in Primary Hyperoxaluria
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 902
- 试验地点
- 1
- 主要终点
- To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
研究概览
简要总结
This study will help us determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria.
详细描述
During your study visit, we will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from your arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. We will use the isolated DNA to try to identify the gene that is defective in Primary Hyperoxaluria by comparing it with the structure of genes in normal individuals, patients with Primary Hyperoxaluria, and family members of Primary Hyperoxaluria patients. In family members of primary hyperoxaluria patients, a 24 hour urine test may also be collected.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •You have been diagnosed, or you are in the process of being diagnosed Primary Hyperoxaluria
- •You have a family member diagnosed with Primary Hyperoxaluria
排除标准
- 未提供
结局指标
主要结局
To determine whether certain genetic mutations, more than others, are a cause of more severe disease in Primary Hyperoxaluria
时间窗: 2 years
次要结局
未报告次要终点