Experimental Treatments

Alport syndrome is a rare genetic condition caused by faulty collagen, an important structural protein for multiple organs. This defect results in chronic kidney disease, as well as eye and hearing abnormalities. There is currently no cure for the condition, however, but available treatments can help to manage its symptoms.

Research is ongoing to identify and test new therapies to better treat Alport syndrome and possibly find a cure. Some of these potential therapies are discussed here, with links for more information.

Research into the biology of Alport syndrome

In order to develop treatments, it is essential to understand the pathology of Alport syndrome, so that new pathways to target can be identified. The Alport Syndrome Foundation (ASF), in partnership with the Pedersen family and the Kidney Foundation of Canada, aims to fund research worldwide into Alport syndrome.

Treatments in clinical trials

Two treatments have progressed to clinical trials in Alport syndrome patients.

RG-012, being developed by Regulus Therapeutics, is currently being investigated in a Phase 2 clinical trial (NCT02855268) called the HERA study. The treatment aims to inhibit the action of a small molecule called microRNA-21, which is believed to repress various protective processes in the kidneys.

Bardoxolone methyl, being developed by Reata Pharmaceuticals, is currently being investigated in a Phase 2/3 clinical trial (NCT03019185). Positive results from its Phase 2 portion were presented at the American Society of Nephrology Kidney Week 2017 Annual Meeting, showing that 80 percent of patients had a clinically meaningful improvement in kidney function after eight weeks of bardoxolone treatment. The trial’s Phase 3 portion is now recruiting patients at locations in the U.S. and Australia (information is available by clicking on the trial’s identification number).

Bardoxolone is a small molecule drug that aims to reduce damage and inflammation in kidney cells while improving energy production and function.

Repurposing existing treatments

Research is ongoing to determine whether approved treatments for other diseases can benefit Alport syndrome patients. For example, the ASF has supported two projects in 2017 to assess whether several therapies can be repurposed to treat Alport syndrome.

Dr. Alessia Fornoni and colleagues at the University of Miami are investigating whether ezetimibe, sold under the brand name Zetia to lower cholesterol, can prevent the progression of kidney disease in Alport patients.

A second study, led by Dr. Constantinos Deltas at the University of Cyprus, will investigate the effect of two approved compounds, PBA (4- phenylbutyric acid) and TUDCA (tauroursodeoxycholic acid), in a mouse model of Alport syndrome.

Stem cell therapies

Stem cell therapies involve the delivery of healthy cells containing a properly functioning copy of the collagen gene to patients. These cells can potentially develop into healthy kidney cells that are able to produce functioning collagen and may be able to restore some of the normal kidney function in Alport syndrome. Currently, stem cell therapies have only been tried in Alport mouse models and have not yet progressed to clinical trials in patients.

Several groups have investigated the potential of stem cell therapy in Alport syndrome, and several types of stem cells have been tested. A few examples are discussed below.

A study published in the journal of the American Society of Nephrology in 2009 demonstrated that a stem cell infusion in Alport syndrome mice resulted in significantly improved kidney function and survival. The trial assessed mouse embryonic and bone marrow stem cells, as well as human embryonic stem cells.

A further study, published in the journal Stem Cells and Development in 2016 showed the potential of chorionic stem cells (CSCs), taken from the early membrane surrounding the fetus. Human CSCs transplanted into a mouse model of Alport syndrome significantly improved kidney function.

More recently, a study published in the journal Scientific Reports investigated the effect of injecting Alport syndrome mice with amniotic fluid stem cells (AFSC) taken from the fluid around the fetus. AFSC helped to normalize blood vessel growth factor signaling in the kidneys, which is often overactive in Alport syndrome. The abnormal growth of blood vessels in the kidneys can lead to scarring and permanent kidney damage. AFSC was seen to slow disease progression in the mice.


Alport Syndrome News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.