Chapter 12 - Treating Hemophilia by Gene Therapy

Abstract

Hemophilia is the most common inheritable coagulation defect. Current state-of-the-art treatment consists of frequent prophylactic or on-demand factor infusions to maintain/restore hemostasis, and has greatly increased life expectancy and quality of life for many patients. However, this treatment is far from ideal due to the need for lifelong infusions, its prohibitively high cost, its inaccessibility to most of the world's hemophiliacs, and the high risk of treatment failure due to immune response to the infused factor. There is thus a need for novel treatments promising long-term or permanent correction/cure. In the present chapter, we provide an overview of hemophilia, focusing on the unique characteristics that make this disease an ideal gene therapy target; we highlight key preclinical gene therapy studies that have been performed in animal models of hemophilia; we summarize the results of hemophilia clinical gene therapy trials to date; and we discuss how intervention prior to birth could overcome the hurdles that have thus far been encountered on the path to curing hemophilia.