The first success in genetic hemophilia therapy has been achieved

Researchers reported the first successful experiment in history to cure hemophilia using genetic therapy.

The study was involved in ten people with hemophilia b . This is a inherited disease, caused by a mutation in the gene, which is in charge of the synthesis of one of the proteins associated with blood coagulation, the so -called “coagulation factor” . In foreign literature, it is sometimes called Christmas Disease, since the first patient who described this disease was called Stephen Cristmas, and published a description in the Christmas issue of the British Medical Journal. Hemophilia B is the second most previous variety of hemophilia, it occurs in 20 % of hemophilics and is inferior only to hemophilia A. The difference in these two diseases was found only in 1952.

It was hemophilia B who had the descendants of Queen Victoria - representatives of the ruling dynasties of Germany, Spain and Russia, including Tsarevich Alexei Romanov. Replacing only one nucleotide in Genea led to the fact that molecules of the coagulation factor IX turned out to be irregular in shape and could not normally perform their functions.

Participants in the current study received a single injection of a harmless virus, which carried the desired gene. When checking after 18 months, it turned out that the level of factor of coagulation of IX in their liver increased and was an average of 34 % of the norm. This turned out to be enough for nine out of ten patients there is no bleeding. Eight out of ten no longer needed daily injections of factor IX.

Previous attempts to apply genetic therapy for the treatment of hemophilia B were unsuccessful, since modified cells were destroyed by the cells of the body's immune system or produced too little factor IX. This time, the authors of the work used the version of the gene, which produce a very powerful variety of this protein, so that they were able to reduce the dose of the virus when it is entered into the body, which means minimize the immune reaction. Two patients reacted to the virus with an increase in the level of liver enzymes, but this effect disappeared after they received steroids.

The article with the results of the study was published by the New England Journal of Medicine.