Journal des syndromes génétiques et de la thérapie génique
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Gene Therapists Determined to Stop the Bleeding!

Debalina Sarkar, George Q. Perrin, Sergei Zolotukhin, Arun Srivastava and Roland W. Herzog

Hemophilia A and B are caused by deficiency of functional coagulation of factor VIII (FVIII) or factor IX (FIX), respectively. Patients with severe hemophilia typically require frequent intravenous infusions of recombinant or plasma-derived clotting factor protein [1]. This type of therapy is not efficient enough
to prevent bleeding complications and tissue damage unless given in prophylactic manner, which requires even more frequent infusions. A major complication of treatment is formation of inhibitory antibodies, which occurs in a subset of patients and further complicates treatment. Another major challenge for recombinant protein therapy is the high cost, which can be more than $300,000/year in factor products. Thus, hemophilia has been viewed as an ideal candidate for gene therapy, which holds the promise of rendering the patient’s own cells into a factory for continued production of functional coagulation factor.