In a world first, Royal Prince Alfred Hospital clinicians are among an international team to have found a gene therapy cure for Thalassaemia, a condition where sufferers must undergo regular blood transfusions and treatments for iron-overload, for life.
Thalassaemia is the most common genetic disorder in the world, affecting more than 280 million people. Almost half a million people worldwide and perhaps 1000 Australians suffer from the severe form of this disease. Those affected produce fewer red blood cells and less haemoglobin, which means less oxygen is delivered around the body.
In a breakthrough clinical trial, published this week in The New England Journal of Medicine, 22 participants with severe beta thalassaemia across three sites (United States, Thailand and Australia) had their own blood stem cells extracted.
Scientists in the United States then inserted a healthy copy of the affected gene into the stem cells that were maintained outside the body. Back home the Australian patients were given chemotherapy prior to receiving their own genetically modified cells by intravenous infusion.
Following the trial, 15 of the participants no longer needed blood transfusions. The remaining 7 still received transfusions but only needed one quarter of the volume compared to their previous requirements. The follow-up since the time of infusion is two years.
Trial lead and head of Cell and Molecular Therapies at RPA, Professor John Rasko AO, said the results build on many recent breakthroughs in gene therapy to treat immune deficiencies, blindness, haemophilia and leukaemia
“People with thalassaemia often have a poor quality of life. Not only do they need to undergo monthly lifelong blood transfusions, but those transfusions result in excess iron overload, which in turn require regular medications that can have significant side effects,” Professor Rasko said.
“I had to take the day off work every month, plus come in the day before for cross-matching of the blood. It was very difficult with work. Some bosses don’t understand, or don’t want to understand. I tried going without the transfusions but I’d get so tired and yellow.
Now, I feel fresh and healthy.”
“I think the doctors were a little disappointed that I still need transfusions, but I’m not. The number of times I visit the hospital is incidental because my quality of life has significantly improved. I feel so much better than I did before and I’d do it all again in a heartbeat.”
She is now planning her wedding in October and – for the first time ever – can leave Australia for a month of holiday.