Molecular and Genetic Analysis of Inherited Kidney Dysfunction
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 2,050
- 试验地点
- 2
- 主要终点
- To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
研究概览
简要总结
The investigators are trying to learn more about the cause of kidney diseases such as Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic syndrome by studying genetics. The investigators are interested in discovering which genes play a role in causing a predisposition to FSGS/NS. The investigators also want to learn why FSGS/NS can run in families. Participation in our study involves a saliva sample and a urine sample that you can give from home. There is no cost to participate. All information is kept private and confidential. The investigators also like to include healthy volunteers (parents, spouses) if interested/available but of course this is completely optional.
详细描述
The investigators welcome anyone (with or without a family history) with unexplained, non syndromic FSGS, nephrotic syndrome, or proteinuria to join the study. Participation involves a saliva (or blood if it is preferable) sample and urine sample (if applicable). There is no cost to participate and the study can be done from home in most cases.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •Subjects with FSGS (focal segmental glomerulosclerosis)
- •Subjects with NS (nephrotic syndrome)
- •Subjects with unexplained kidney failure (have had a transplant or on dialysis)
- •Subjects with unexplained proteinuria
- •Family members of a person with FSGS, NS, kidney failure, or unexplained protein in their urine
- •Healthy volunteers
排除标准
- •Patients whose kidney disease is already explained by another syndrome such as (Branchio Oto Renal Syndrome or Alports syndrome)
- •Patients who already know the genetic cause of their kidney disease
结局指标
主要结局
To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
时间窗: 2035
This is an ongoing study for research purposes only.
次要结局
未报告次要终点
研究者
Martin R. Pollak
Professor of Medicine
Beth Israel Deaconess Medical Center