Gene therapy for hemophilia

Pediatr Blood Cancer. 2018 Feb;65(2). doi: 10.1002/pbc.26865. Epub 2017 Oct 27.

Abstract

Individuals with the inherited bleeding disorder hemophilia have achieved tremendous advances in clinical outcomes through widespread implementation of prophylactic replacement with safe and efficacious factor VIII and IX. However, despite this therapeutic approach, bleeds still occur, some with serious consequence, joint disease has not been eradicated, and patients have not yet been liberated from the need for regular intravenous infusions. The shift from protein replacement to gene replacement is offering great hope to achieve durable levels of plasma factor activity levels high enough to remove the risk for recurrent joint bleeding. For the first time, clinical trial results are showing promise for "curative" correction of the bleeding phenotype.

Keywords: adeno-associated virus; clinical trials; gene therapy; hemophilia.

Publication types

  • Review

MeSH terms

  • Factor IX / genetics*
  • Factor VIII / genetics*
  • Female
  • Genetic Therapy / methods*
  • Genetic Therapy / trends*
  • Hemophilia A / genetics*
  • Hemophilia A / therapy*
  • Humans
  • Male

Substances

  • F8 protein, human
  • Factor VIII
  • Factor IX