NCT01783795已完成不适用
Screening for Dent Disease Mutations in Patients With Proteinuria
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Mayo Clinic
- 入组人数
- 180
- 试验地点
- 2
- 主要终点
- Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
研究概览
简要总结
This study will help the investigator determine whether certain genetic mutations, more than others, are a cause of more severe disease in Dent Disease.
详细描述
During this study visit, the investigator will draw one tube, about two teaspoonfuls (1 to 1 ½ teaspoons for children), of blood from the subject's arm to obtain white blood cells. These white blood cells will be used as a source of DNA for genetic testing. The investigator will use the isolated DNA to try to identify the gene that is defective in Dent Disease by comparing it with the structure of genes in normal individuals, patients with Dent Disease, and family members for Dent Disease.
研究设计
- 研究类型
- Interventional
- 分配方式
- Na
- 干预模型
- Single Group
- 主要目的
- Screening
- 盲法
- None
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •The patient has been diagnosed, or in the process of being diagnosed with Dent Disease.
- •The patient has a family member diagnosed with Dent Disease.
排除标准
- 未提供
结局指标
主要结局
Number of subjects with genetic mutations in either the CLCN5 or ORCL1 gene
时间窗: 4 years
次要结局
未报告次要终点
研究者
研究点 (2)
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