Three Irish people are among 54 people who received ground-breaking gene therapy treatment as part of a worldwide trial. Haemophilia is a group of hereditary blood disorders, which famously affected the royal families of Europe. Sufferers have a defect in their blood clotting mechanism. This can lead to haemophilia patients being easily injured. It makes surgical treatment very difficult and the disease can, in some cases, prove fatal.
Up to now, the only treatment available to those with severe haemophilia has been weekly injections of clotting factor. The new treatment involves intravenously giving patients a “working copy” of the genes that control the production of clotting factor in the liver.
All three Irish patients who were part of the trial had the therapy administered in a single dose. Their bodies began to produce the missing clotting factor. One of the patients, Brian O’Mahony, who is head of the Irish Haemophilia Society, said that he is now “functionally cured”. Life has changed overnight for these patients. “I’ve had no side effects and my factor IX level has stayed normal. After living my entire life with severe haemophilia, at the moment I don’t have it,” Mr O’Mahony said.
This particular gene therapy works for those patients with haemophilia B but gene therapies are being developed for those living with haemophilia A.