Understanding of Valoctocogene Roxaparvovec (Roctavian) as a Breakthrough Gene Therapy for Hemophilia Type A

life Sciences

Hemophilia is a hemorrhagic disease characterized by the absence or deficiency of clotting factor VIII (hemophilia A) or clotting factor IX (hemophilia B) and hemophilia C or factor XI deficiency. It affects 1 in 5,000 living males, 1 in 40,000 live males, and 1 in 100,000 live births worldwide (Hemophilia A, B, and C). Emicizumab is a monoclonal antibody that bridges activated factors IX and X to perform the duties of activated factor VIII when it is absent, restoring hemostasis. Intravenous infusion of exogenous FVIII is the current gold standard in hemophilia A treatment. Prophylactic coagulation factor replacement has been shown to reduce arthropathy, decrease the frequency of bleeds, and improve quality of life. Gene therapy for hemophilia involves targeting hepatocytes, allowing for long-term expression of defective FVIII while maintaining stable plasma FVIII concentrations. The first gene therapy for hemophilia A is Roctavian. Valoctocogene roxaparvovec, the active ingredient in Roctavian, is based on an adeno-associated virus (AAV) that has been altered not to infect people. Roxaparvovec was granted conditional marketing authorization in the EU to treat severe hemophilia A in adults without FVIII inhibitors and AAV5 antibodies.

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