Advances in the management of haemophilia: emerging treatments and their mechanisms

J Biomed Sci. 2021 Sep 14;28(1):64. doi: 10.1186/s12929-021-00760-4.

Abstract

Mainstay haemophilia treatment, namely intravenous factor replacement, poses several clinical challenges including frequent injections due to the short half-life of recombinant factors, intravenous administration (which is particularly challenging in those with difficult venous access), and the risk of inhibitor development. These impact negatively upon quality of life and treatment compliance, highlighting the need for improved therapies. Several novel pharmacological therapies developed for haemophilia aim to rebalance the clotting cascade and potentially circumvent the aforementioned challenges. These therapies utilise a range of different mechanisms, namely: the extension of the circulating half-life of standard recombinant factors; the mimicking of factor VIII cofactor activity; rebalancing of coagulation through targeting of natural anticoagulants such as antithrombin and tissue factor pathway inhibitor; and inducing the production of endogenous factors with gene therapy. These therapies carry the potential of revolutionising haemophilia treatment by alleviating the current challenges presented by mainstay factor replacement. This review will provide an overview of the key trial findings related to novel therapies based on the mechanisms described above.

Keywords: Concizumab; Emicizumab; Extended half-life; Factor replacement; Fitusiran; Gene therapy; Haemophilia A; Haemophilia B; Inhibitor development.

Publication types

  • Review

MeSH terms

  • Clinical Trials as Topic
  • Genetic Therapy*
  • Hemophilia A / drug therapy*
  • Humans
  • Quality of Life