British researchers have just developed a revolutionary gene treatment for people suffering from hemophilia A. According to their first trials, it has been successfully tested on 13 men suffering from this genetic anomaly.
Affecting approximately 7,000 people in France and 700,000 patients worldwide, hemophilia is a rare abnormality which prevents the blood from clotting, leading to a risk of bleeding. Carried by a sex chromosome and affecting mainly men, it can be particularly painful and lead to disabling sequelae, even death if the haemorrhage is not treated in time.
Caused by a lack or absence of factor VIII, a coagulation factor generally present in our plasma and allowing the blood to form a clot, hemophilia A is the most widespread form of hemophilia: 80% of patients suffering from this genetic disease are concerned. Since their blood cannot coagulate properly, patients are exposed, at the slightest cut or scratch, to a risk of excessive bleeding, but also to a risk of spontaneous internal bleeding. They must therefore undergo at least three intravenous injections per week to control and prevent bleeding.
But new research in gene therapy could allow patients to put an end to these regular injections which alter their quality of life. In an article published in the New England Journal of Medicineresearchers from Queen Mary University of London (UK) announced that a single infusion of a missing gene resulted in 13 patients having normal or near-normal levels of the blood clotting protein factor. VIII, a year later.
Treatment still effective after 3 years
If this preliminary work had already been is the subject of promising publications in 2017, their authors this time announced that, three years after receiving the treatment, all patients in the trial were still enjoying a substantial drop in bleeding rates. None of the 13 patients no longer required regular infusions of factor VIII to prevent the risk of bleeding.
“Our 2017 paper showed that gene therapy could significantly increase factor VIII levels in men with hemophilia A,” says Professor John Pasi, lead author of the work and director of the hemophilia center at Barts Health. NHS Trust. Our new data is essential to help the scientific and medical communities understand this breakthrough technology. This latest study confirms both the safety and the long-term beneficial impact of the treatment. Long-term treatment that effectively ends the lifelong regimen of regular injections can transform care and massively improve the quality of life for hundreds of thousands of people born with this difficult genetic condition.”
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