Genetic Causes of FSGS, Nephrotic Syndrome, or Kidney Failure

NCT02194582 | Active Not Recruiting

• 2 other identifiers: 2009P0004305R01DK054931-18
• Study Type: observational
• Target: 2,050
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Keywords

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

Outcome Measures

Primary Outcomes (1)

• To identify the genetic causes of FSGS, NS, and idiopathic proteinuria/ESRD in patients and families

  This is an ongoing study for research purposes only.

  2035

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Beth Israel Deaconess Medical Center: lead
• National Institutes of Health (NIH): collaborator
• National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK): collaborator
• United States Department of Defense: collaborator

Study Sites (1)

BIDMC

Boston, Massachusetts, 02215, United States

Location

Related Links

• BIDMC - Pollak Lab Website

Biospecimen

Retention: SAMPLES WITH DNA

Usually saliva In some cases, a blood sample may be obtained In some cases, a urine sample may be requested

MeSH Terms

Conditions

Glomerulosclerosis, Focal Segmental; Nephrotic Syndrome; Kidney Failure, Chronic; Renal Insufficiency; Kidney Diseases; Nephrosis, Lipoid; Proteinuria

Condition Hierarchy (Ancestors)

Glomerulonephritis; Nephritis; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Nephrosis; Renal Insufficiency, Chronic; Chronic Disease; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Urination Disorders; Urological Manifestations; Signs and Symptoms

Study Officials

• Martin R Pollak, MD

  Beth Israel Deaconess Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor of Medicine

Study Record Dates

• First Submitted: July 16, 2014
• First Posted: July 18, 2014
• Study Start: June 1, 1996
• Primary Completion (Estimated): January 1, 2035
• Study Completion (Estimated): January 1, 2035
• Last Updated: November 5, 2024

Record last verified: 2024-11

Locations

US (1)