Molecular and Genetic Analysis of Inherited Kidney Dysfunction
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Focal Segmental Glomerulosclerosis
- Sponsor
- Beth Israel Deaconess Medical Center
- Enrollment
- 2050
- Locations
- 1
- Primary Endpoint
- To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
- Status
- Active, not recruiting
- Last Updated
- last year
Overview
Brief Summary
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.
Detailed Description
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.
Investigators
Martin R. Pollak
Professor of Medicine
Beth Israel Deaconess Medical Center
Eligibility Criteria
Inclusion Criteria
- •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
Exclusion Criteria
- •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
Outcomes
Primary Outcomes
To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families
Time Frame: 2035
This is an ongoing study for research purposes only.