Hemophilia therapy: the future has begun

Authors: Pier Mannuccio Mannucci.

Haematologica February 2020; 105,3:545

Affiliations: Fdn IRCCS Ca Granda Osped Maggiore Policlin, Angelo Bianchi Bonomi Hemophilia & Thrombosis Ctr, Via Pace 9, I-20122 Milan, Italy

Abstract: The success story of hemophilia care first materialized in the 1970s, when the availability of plasma-derived concentrates of coagulation factor VIII (FVIII) and factor IX (FIX) made possible the effective treatment of bleeding in patients with hemophilia A and B. This positive scenario consolidated in terms of safety and availability in the 1990s, when recombinant coagulation factors were first produced and allowed to start regimens of prophylaxis of bleeding instead of their episodic treatment. Prophylaxis became evidence-based standard of care following the demonstration of its superiority in the frame of two randomized clinical trials. Notwithstanding these achievements that in high-income countries have led to a patients’ life expectancy close to that of the general male population, the last decade has witnessed further spectacular therapeutic progress, such as the availability of coagulation factors endowed with a more prolonged plasma half-life and thus the need of less frequent dosing intervals. Moreover, new therapeutic products based on mechanisms other than replacement of the deficient factor became available (emicizumab) or are in the advanced stage of development. This essay celebrates the success story of hemophilia care, but also discusses current limitations, issues and still unmet needs. The prospects of cure by means of gene therapy are also discussed.