First gene therapy for severe hemophilia

An inherited disease that predisposes to potentially fatal bleeding, severe haemophilia A affects one in 12,000 boys in France. Due to genetic abnormalities, these patients do not produce factor VIII (FVIII), a protein needed for blood clotting. Current treatments offer a significant improvement in their health, but at the cost of very frequent injections of FVIII throughout their lives. Hence the interest in the first gene therapy recently approved by the European Medicines Agency (EMA) for adults, the effects of which can last for several years.

The drug Roctavian (valoctocogene roxaparvovec) from the American laboratory BioMarin enables the delivery of the gene encoding factor VIII to liver cells using an inactivated adenovirus (AAV5). Only one injection is needed and the effect starts after about fifteen days. For patients whose therapy works, “is a miracle”, reports P^r: Hervé Chambost, manager…