What Is APOL1-Mediated Chronic Kidney Disease (CKD)?

APOL1-mediated kidney disease is caused by certain genetic changes in the APOL1 gene that damage kidney cells (these changes are sometimes called variations). When these kidney cells are damaged, a large amount of protein is lost from the blood and leaks into the urine, which affects the kidneys’ ability to work properly.

About the APOL1 gene.

APOL1 is a naturally occurring gene that can be found in many tissues of the body, including the blood, saliva, and kidneys.

A gene is made up of DNA, which acts like a recipe that holds the instructions telling our bodies how to develop and function. Genes tell cells how to make specific proteins, and proteins are used by the cell to perform certain functions, to grow, and to survive.

One of the jobs that the APOL1 protein has is to protect the body against infection from a parasite. Parasites are living things that can make a person sick if they get inside them. People with CKD not caused by diabetes who have a variation in their APOL1 gene have a higher risk of losing kidney function. There are currently no approved treatments that address the underlying genetic cause of APOL1-mediated CKD.

Genetic testing for the APOL1 gene variation.

This study is being done to determine how many people of recent African ancestry or geographic origin with CKD not caused by diabetes also have a genetic variation on a gene called the apolipoprotein L1 (APOL1) gene. This clinical research study includes investigational genetic testing to see if you were born with the variation in your APOL1 gene. The study team will take samples of blood and saliva to see if you were born with two APOL1 risk variants that are associated with CKD. Results of this test may qualify you for a future clinical research study for people with CKD.

The test used to see if you have an APOL1 gene variation is not approved by the regulatory health agency in your country, which means that it is not available outside a research study and is not meant to help you make decisions about your medical care.

See if you may qualify