FSGS and Identification of the APOL1 Genetic Mutation

A Study of the Prevalence of Apolipoprotein L1 (APOL1) Alleles Among Individuals With Proteinuric Kidney Disease Who Are of Recent African Ancestry or Geographic Origin

Protocol Description

This study is being done to determine how many people of African or Caribbean descent with focal segmental glomerulosclerosis (FSGS) also have a genetic mutation on a gene called APOL1 (apolipoprotein L1). APOL1 is a naturally occurring gene that can be found in many organs of the body, including the kidneys. People with FSGS who have a mutation in their APOL1 gene have a higher risk of losing kidney function. This information may help us understand how to better help people with FSGS in the future.

Eligibility Criteria

Subject to certain exclusion criteria, this study is accepting participants, ages 18 through 60, who are of African or Caribbean descent who have biopsy-confirmed FSGS.
Males and Females: Ages 18 through 60

Requirements

The study involves a single blood test and saliva sample.
Visits: 1
Duration: Not applicable

Status: Open to Enrollment

Source(s) of Support

Vertex Pharmaceuticals

Additional Information

Nephrology Research

Primary Investigator

Michael Moritz, MD

Contact Information

For more information about the study or enrollment, please contact:
Matt Butoryak, RN, CCRC
412-692-8181