Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure (FSGS)

June 9, 2026 updated by: Martin R. Pollak, Beth Israel Deaconess Medical Center

Molecular and Genetic Analysis of Inherited Kidney Dysfunction

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.

Study Overview

Status

Active, not recruiting

Conditions

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.

Study Type

Observational

Enrollment (Estimated)

2050

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Massachusetts
      • Boston, Massachusetts, United States, 02215
        • BIDMC

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

We are recruiting subjects who have kidney disease, family members of a person with kidney disease, and healthy controls.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Family-Based
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
2035

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Beth Israel Deaconess Medical Center

Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
United States Department of Defense
National Institutes of Health (NIH)

Investigators

  • Principal Investigator: Martin R Pollak, MD, Beth Israel Deaconess Medical Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 1, 1996

Primary Completion (Estimated)

January 1, 2035

Study Completion (Estimated)

January 1, 2035

Study Registration Dates

First Submitted

July 16, 2014

First Submitted That Met QC Criteria

July 17, 2014

First Posted (Estimated)

July 18, 2014

Study Record Updates

Last Update Posted (Actual)

June 11, 2026

Last Update Submitted That Met QC Criteria

June 9, 2026

Last Verified

June 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 2009P000430
  • 5RC2DK122397 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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