Breakthrough in gene therapy for haemophilia

16 March 2006

A gene therapy for haemophilia, the bleeding disease which affects around 1,800 Australian men, has been developed and successfully tested in a limited trial by Haematologist Professor John Rasko at the University’s Centenary Institute of Cancer Medicine and Cell Biology.

By injecting a blood-clotting gene into a patent with severe haemophilia, Professor Rasko and his team were able to provide temporary relief from bleeding episodes; however the effects of the treatment failed due to an immune system response.

The gene, a cloned version of what is known Christmas gene, which expresses the blood clotting agent Factor IX, was encased in a harmless adeno-associated virus (AAV) and injected via a catheter through the patent’s groin into the blood vessel that supplies the liver. This virus casing allowed the gene to penetrate the patent’s liver cells, telling them to produce Factor IX.

It is hoped that if they are able to suppress the immune system for several months, the patent’s body will not attack the virus transporting the gene, allowing it to become established in the liver.

Professor Rasko suspects that the reason for the eventual failure of the therapy was due to the patent’s immune system attacking the AAV virus which had attached to the liver cells.

‘We are currently seeking funding for further trials of the therapy, and if successful the treatment could also proved rather cost effective. The cost of treatment of people with haemophilia is between $50,000 and $500,000 each year,’ said Professor Rasko.

This paper appears in the most recent issue of the journal Nature Medicine.


Contact: Jake O'Shaughnessy
Phone: +61 2 9351 4312 or 0421 617 861