Researchers of the University College London Cancer Institute (United Kingdom) and the St. Jude's Children Research Hospital in Memphis (United States) have successfully tested a new gene therapy that increases the production of an important factor involved in the blood coagulation, and that could serve as a treatment for hemophilia B patients.

Dr. Charles Abrams, secretary of the American Society of Hematology, has pointed out that this discovery can mean permanent cure for these patients.

The therapy works replacing the function of the defective gene that causes the appearance of the pathology, with the consequent problem in the coagulation, by means of a genetically modified virus that is transferred to the cells of the liver of the patient, and stimulates them so that they produce the necessary factors in coagulation, of those lacking in people suffering from hemophilia.

The therapy works replacing the function of the defective gene that causes the appearance of the pathology, by means of a virus that stimulates the cells of the liver so that they produce the necessary factors in the coagulation

Hemophilia, a chronic hereditary disease, that affects only males (one in 5,000 children born each year in the world with hemophilia A, and one in 25,000 with hemophilia B), is due to a deficiency of the clotting agent; VIII in the case of type A, and IX, also known as FIX, in hemophilia B.

The authors of the research selected six men who suffered a severe form of hemophilia B, whose FIX level was less than 1% of normal. With the new therapy they managed to get four of them to abandon the usual treatment without suffering spontaneous hemorrhages, and the other two, who initially injected FIX two or three times a week, went on to do it once every 10 or 15 days.

The research, which has been published in New England Journal of Medicine has been described as an unprecedented experiment by Dr. Katherine Ponder, professor of hematology and oncology at the Washington University in St. Louis, which has stated that if subsequent studies confirm that this new treatment is safe and does not cause adverse reactions to patients, it could replace the protein therapy currently used to treat patients with hemophilia B , and that is more expensive and uncomfortable.

Chromogenic Factor VIII and IX Assays: Impact on Diagnosis and Management of Hemophilia (November 2019).