Abstract
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.
Highlights
As this special issue of the Journal of Genetic Syndromes and Gene Therapy illustrates, gene therapists are closer than ever to a cure for the X-linked bleeding disorder hemophilia
Future challenges for the protocol include pre-existing immunity to associated virus (AAV) in the form of neutralizing antibodies and in the form of memory CD8+ T cells to the viral capsid
Future use of the protocol in pediatric patients with hemophilia is complicated by the predominant episomal nature of the AAV genome, which on the one hand reduces the risk for insertional mutagenesis while on the other hand vector genomes are lost over time in a growing liver
Summary
Herzog* Division of Cellular and Molecular Therapy, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA. As this special issue of the Journal of Genetic Syndromes and Gene Therapy illustrates, gene therapists are closer than ever to a cure for the X-linked bleeding disorder hemophilia. 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. 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
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