Hemophilia is a bleeding disorder that stems from a genetic mutation or alteration in the genes that encode clotting factor proteins, which are necessary for the formation of blood clots.
Normally, when bleeding occurs, the body pools blood cells to create a clot that stops the bleeding. However, in hemophilia, either a clotting factor is absent, or its levels are inadequate, leading to difficulty in forming a clot. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Hemophilia is usually inherited. However, some people develop hemophilia with no family history of the disorder.
Preventative or on-demand treatment approaches are used to treat hemophilia. While on-demand treatment is used as needed to treat prolonged bleeding, most cases of the disease also require preventative treatment which includes regular clotting factor injections to prevent bleeding and joint/muscle damage. Patients receiving preventative treatment need ongoing monitoring and often require lifelong treatment.
In the global fight against hemophilia, Israel has been recognized for early detection of the disease, and Sheba leads the way in providing alternative, more efficient treatment options to patients.
In a recent groundbreaking trial, Sheba researchers played a pivotal role in replacing the defective gene responsible for hemophilia’s severe effects. The study was conducted by BioMarin and involved 134 elderly patients with hemophilia from 50 medical centers across 30 countries, including five from Israel.
The study’s findings, published in The New England Journal of Medicine, reveal that researchers used a virus to successfully insert a healthy gene into the liver of participants. At the time of the trial, patients underwent repeated transfusions to replace the missing factor in their blood, which was frequently administered to prevent severe bleeding and resulting disability.
According to Prof. Gili Kenet, director of the Israel National Hemophilia Center and Thrombosis Institute at Sheba, experts were able to “cure a person suffering from a serious genetic disease within just a few months,” highlighting the significance of the experiment and noting that what was once considered science fiction is now a reality.
All Israeli participants were cured of the disease, exhibiting normal blood clotting and no signs of bleeding. Although six patients still experienced moderate hemophilia, their bleeding had significantly decreased.
The successful trial provides new hope for patients suffering from the disorder, offering the potential for a life-changing cure that could significantly improve their quality of life.
