Clotting factor replacement therapy has proven a highly effective means of treating haemophilia A and B. But treatment involves frequent and lifelong infusion of factor concentrates and is generally prophylactic rather than curative. It is also extremely expensive, associated with inhibitor formation and does not fully abolish the potential for spontaneous bleeding. Gene therapy offers a potential cure for haemophilia, with the possible continuous expression of a clotting factor gene following the administration of a viral vector carrying the appropriate gene. Recent clinical trials of gene therapy for haemophilia have proven positive in selected patients and new studies are underway.
11. Roth DA, Tawa NE, O’Brien JM, et al. Nonviral transfer of the gene encoding coagulation factor VIII in patients with severe haemophilia A. N Engl J Med 2001; 344(23): 1735-1742.
12. Powell JS, Ragni MV, White GC, et al. Phase 1 trial of FVIII gene transfer for severe haemophilia A using a retroviral construct administered by peripheral intravenous infusion. Blood 2003; 102(6): 2038-2045.
13. White GC, Monahan PE. Gene therapy for haemophilia A. In: Lee CA, Berntorp EE, Hoots K, editors. Textbook of Haemophilia. 2nd ed. Hoboken, NJ: Wiley- Blackwell; 2005.
14. Manno CS, Chew AJ, Hutchison S, et al. AAV-mediated factor IX gene transfer to skeletal muscle in patients with severe haemophilia B. Blood 2003; 101(8): 2963- 2972
15. Manno CS, Pierce GF, Arruda VR, et al. Successful transduction of liver in haemophilia by AAV-Factor IX and limitations imposed by the host immune response. Nat Med 2006; 12(3): 342-347.
16. Nathwani AC, Tuddenham EG, Rangarajan S, et al. Adenovirus-associated virus vector-mediated gene transfer in hemophilia B. N Engl J Med 2011; 365: 2357-65. doi: