Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

Conditions

Focal Segmental Glomerulosclerosis Chronic Disease Disease Attributes End Stage Renal Disease Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Glomerulonephritis Glomerulosclerosis, Focal Segmental Kidney Diseases Kidney Failure Kidney Failure, Chronic Male Urogenital Diseases Nephritis Nephrosis Nephrosis, Lipoid Nephrotic Syndrome Pathologic Processes Pathological Conditions, Signs and Symptoms Proteinuria Renal Insufficiency Renal Insufficiency, Chronic Signs and Symptoms Unexplained Proteinuria Urination Disorders Urogenital Diseases Urologic Diseases Urological Manifestations

Sex eligibility

All sexes

Study type

Observational

Primary location

BIDMC

Boston, Massachusetts, 02215, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

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.

Sponsors and collaborators

Lead sponsor

Beth Israel Deaconess Medical Center

Other

Collaborators

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

Registry information

Official study title

Molecular and Genetic Analysis of Inherited Kidney Dysfunction

Acronym: FSGS

Important dates

Study start: 1996
Primary completion: 2035
Study completion: 2035
First posted: Jul 18, 2014
Registry last updated: Jun 11, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed