Ezetimibe is a type of cholesterol-lowering medicine that is now being investigated as a therapy for Alport syndrome by Alessia Fornoni, MD, PhD, and colleagues at the University of Miami.

The medication was originally manufactured by Merck under the brand name Zetia for high cholesterol; however, generic versions are now available.

How ezetimibe works

Alport syndrome is caused by a mutation in one of three genes providing instructions for the production of parts of a protein called type 4 collagen. This protein plays a major role in the function of glomerular basement membranes, an essential component of the kidneys.

These mutations can lead to chronic kidney disease and eventually kidney failure. It is thought that part of the damage to the kidneys may be caused by the activation of a protein called DDR1 (discoidin domain receptor 1).

One mechanism may be via the production of type 1 collagen in the kidneys to compensate for the loss of type 4 collagen, which can bind to and activate DDR1. Activated DDR1 stimulates the production of CD36, a cell signaling molecule that stimulates pathways leading to inflammation, in turn causing damage and fibrosis (or scarring) in the surrounding tissue.

CD36 can also trigger the uptake of lipids (a type of fat molecule) into the podocyte cells, which are crucial for the effective filtration of waste by the kidneys. This disrupts cell function and causes damage and the eventual death of the podocyte.

Ezetimibe can block this process by stopping the activation of DDR1, potentially slowing the progression of kidney damage in Alport syndrome patients.

Ezetimibe in clinical trials

Ezetimibe has not yet been tested in clinical trials for Alport syndrome. It is currently being investigated in preclinical studies at the University of Miami. Scientists intend to assess the safety and efficacy of the compound in a mouse model of Alport syndrome before it can be considered for use in human clinical trials.

A study, published in Matrix Biology, in Alport syndrome mice demonstrated that preventing DDR1 from being activated could slow the progression of kidney disease. This result supports the idea that ezetimibe may also be beneficial for Alport syndrome patients.

Other information

Funding to study ezetimibe in Alport syndrome was awarded to Fornoni and her team in August 2017 by the Alport Syndrome FoundationThe Kidney Foundation of Canada, and the Pedersen family.


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