Alport Foundation of Australia
The Alport Foundation of Australia is proud to be a supporter of Australian research projects relevant to the improvement of Alport Syndrome diagnosis, management, treatments and patient support. 
Or contact us by emailing

Novel stem cell assays for Alport Syndrome

Project research grant awarded to CIs Ricardo and Kerr

by the Alport Foundation of Australia, May 2010.

The potential of stem cells represents one of the greatest opportunities in medicine. They are found in embryonic tissues and adult organs and have potential uses in therapies designed to repair and regenerate organs. Recently, scientists have discovered how to reprogram adult cells by introducing four regulatory genes causing them to lose their characteristic adult properties and behave more like embryonic stem cells. These cells termed inducible pluripotent stem cells, or iPS cells, become more immature in nature and can be maintained in a lab dish indefinitely. The establishment of iPS cell lines from patients with Alport Syndrome has an extraordinary potential for new drug discovery and personalized medicine. This is where the study of iPS cells lines could provide information about an individual patient to select or optimize that patient's preventative and therapeutic care. It will also enable us to understand Alport Syndrome in a way we've never been able to before, advancing the potential of human iPS cells for modelling the genetic disorder and for the screening of new drug compounds. Read more about Dr Ricardo.....

Dr Sharon Ricardo

Novel Chemical Treatments for Alport Syndrome

Project research grant awarded to J Savige by the

Alport Foundation of Australia, May 2010.

Alport syndrome is an inherited disease that results in progressive kidney failure, hearing loss and eye abnormalities. It is due to mutations in 3 genes that code for different collagen chains. These chains are normally intertwined to form a single molecule in basement membranes in the kidney, ear and eye. The different forms of Alport syndrome affect different chains. Each type results in the destruction not only of the corresponding mutant chain but also of the chains with which it is normally intertwined. Thus in Alport syndrome all 3 chains are missing from affected basement membranes. These membranes are consequently abnormal and weakened and the abnormal membranes result in the clinical features of kidney disease, hearing loss and ocular abnormalities.    

We know that some chemicals potentially inhibit the breakdown of the defective collagen chains  and we hypothesise persistence of even partly abnormal chains in the basement membranes will result in less severe disease. We have preliminary evidence that this is so. Here we seek funding to look at cell lines from patients with different kinds of mutations causing X-linked and autosomal recessive Alport syndrome to show these chemicals actually increase the amount of the collagen mRNA and protein. We will compare several chemicals and determine which is most effective in doing this. This approach is already being trialled in clinical studies in cystic fibrosis.

The only realistic treatments available for Alport syndrome currently focus on minimising proteinuria and delaying the onset of end-stage renal failure. The most commonly-used agents are angiotensin converting enzyme (ACE) inhibitors. The use of chemical chaperones and inhibitors of nonsense-mediate decay represents a new approach to the treatment of Alport syndrome. There are early clinical trials of some of these agents in cystic fibrosis and there is also hope they will be useful in neurodegenerative diseases (Chaudhuri 2006). The proposed project will provide proof of principle that chemical chaperones and inhibitors of nonsense mediated decay increase the amount of functional collagen IV a5 chain.

Professor Judy Savige


Making stem cell lines from patients with Alport Syndrome

Prof Sharon Ricardo, Monash University (2013)

The epidemic of chronic kidney disease and end-stage renal failure represents a crisis for health world-wide. Alport syndrome is an inherited kidney disease that accounts for 2% of all patients with end-stage renal failure. Most mutations in the common X-linked form, result in missense or nonsense changes, but little is known of how these cause disease or how it might be modified.

Currently, there is no satisfactory model in which to examine the effect of mutations in X-linked Alport syndrome or to evaluate new treatments. Furthermore, human kidney cells called podocytes, the main cells involved in blood filtration, are very difficult to establish due to their limited ability to replicate and maintain in culture.

However this has recently changed. The reprogramming of adult cells to generate induced pluripotent stem cells (iPS), are valuable for use in disease modelling, drug screening and regenerative medicine – as recently reviewed (O’Neill and Ricardo JASN 2013). Funding from the Alport Foundation of Australia is supporting the generation of iPS cell lines generated by obtaining cells, whether skin or urine, from patients with Alport Syndrome. We will use iPS cells that are genetically tailored to patients with Alport Syndrome to assess how missense and nonsense COL4A5 mutations in X-linked Alport syndrome produce disease. Understanding these mechanisms is the first step in developing new disease-modifying treatments.

iPS cells from an Alport patient

Privacy Policy             Disclaimer            Sitemap         Copyright ® 2010 Alport Foundation of Australia, Inc. All Rights Reserved 

Graphic kindly provided by Zygote Media Group, Inc.          Alport Foundation of Australia: ABN 87 956 459 275

      The ATHENA Study:

Mapping the Course of Alport syndrome

If you have Alport syndrome, or know someone who does, you may want to learn about the ATHENA study now recruiting patients worldwide.

The ATHENA study is designed to learn more about the progression of Alport syndrome, particularly regarding the changes in the kidneys over time in Alport syndrome patients. The ATHENA study is an observational study and does not involve the use of any investigational drugs. However, information obtained from this study will help in the design of future clinical trials to test a new investigational drug in patients with Alport syndrome.

You may be eligible to participate if:

  1. You are 16 years of age or older,

  2. Have been diagnosed with Alport syndrome and

  3. Have a Glomerular Filtration Rate (GFR) between 30-75 mL/min.

The study team will meet with you to discuss the study, review your medical history and perform screening tests to see if you are eligible to participate.

Find a Study Site Near You