Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure

Molecular and Genetic Analysis of Inherited Kidney Dysfunction

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02194582

Acronym

FSGS

Enrollment

2050

Registered

2014-07-18

Start date

1996-06-01

Completion date

2035-01-01

Last updated

2026-06-11

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

End Stage Renal Disease, Focal Segmental Glomerulosclerosis, Kidney Failure, Nephrotic Syndrome, Unexplained Proteinuria

Keywords

FSGS, NS, Kidney disease, Kidney failure, Renal disease, nephrotic syndrome, focal segmental glomerulosclerosis, familial kidney disease, minimal change disease, proteinuria

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.

Interventions

None listed

Study design

Observational model

FAMILY_BASED

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families	2035	This is an ongoing study for research purposes only.

Countries

United States

Contacts

PRINCIPAL_INVESTIGATORMartin R Pollak, MD

Beth Israel Deaconess Medical Center

Outcome results