Gene therapy has returned blood coagulation to patients with hemophilia

Scientists from the UK managed to get closer to the cure of the disease of blood non -relief - hemophilia. Gene therapy that they experienced on patients with hemophilia A allowed to restore the normal level of protein, which is responsible for coagulation. Work about this was published in the scientific journal New England Journal of Medcine.

The single administration of the drug for genetic therapy showed an improvement in the level of protein factor VII. In 85% of patients, it reached a normal or almost normal value even many months after treatment. Such “transformational” results are the first successful study of genetic therapy to combat the disease, scientists note.

During the study, patients were introduced a copy of the absent gene, thanks to which the cells made the factor desired for coagulation.

Patients with hemophilia A almost no protein factor VII, which is why even the smallest injury is in jeopardy. In addition, the disease can cause dangerous internal bleeding. There is no treatment for hemophilia, there are only drugs that weaken the consequences.

“We saw the impressive results that surpassed our expectations. When we started, we thought that it would be a great achievement to show an improvement by at least 5%. To see a normal or almost normal level of factors with a significant reduction in bleeding is simply amazing, ” said Professor John Pasi, who worked on the study.

One of the subjects was 29-year-old Jake Omer. He said that genetic therapy changed his life - before he needed to wake up early, make injections three times a week and additional, if he had injuries. Due to constant bleeding, he developed arthritis in his knees.

“Now I have hope for the future. It is impossible to imagine that I can play with my children, kick the ball or climb trees as I did in childhood. At 23 it was hard for me to run 100 meters to catch the bus. Now, at 29, every day I pass more than two kilometers, which I could not do before gene therapy, ”he shared.

Omer accidentally realized that therapy was working. Once in the hall he dropped the dumbbell and hit his elbow, after which he greatly panicked. He put ice to the damaged place, and the next morning everything was fine.

Hemophilia is a rare hereditary disease. Patients, in order to maintain a normal lifestyle, have to constantly chop the VII factor, the annual costs for which exceed $ 100 thousand.