Gene therapy for hemophilia

Katherine P. Ponder

Research output: Contribution to journalReview articlepeer-review

48 Scopus citations


PURPOSE OF REVIEW: This review will highlight the progress achieved in the past 2 years on using gene therapy to treat hemophilia in animals and humans. RECENT FINDINGS: There has been substantial progress in using gene therapy to treat animals with hemophilia. Novel approaches for hemophilia A in mice include expression of Factor VIII in blood cells or platelets derived from ex-vivo transduced hematopoietic stem cells, or in-vivo transfer of transposons expressing Factor VIII into endothelial cells or hepatocytes. Advances in large-animal models include the demonstration that neonatal administration of a retroviral vector expressing canine Factor VIII completely corrected hemophilia A in dogs, and that double-stranded adeno-associated virus vectors resulted in expression of Factor IX that is 28-fold that obtained using single-stranded adeno-associated virus vectors. In humans, one hemophilia B patient achieved 10% of normal activity after liver-directed gene therapy with a single-stranded adeno-associated virus vector expressing human Factor IX. Expression fell at 1 month, however, which was likely due to an immune response to the modified cells. SUMMARY: Gene therapy has been successful in a patient with hemophilia B, but expression was unstable due to an immune response. Abrogating immune responses is the next major hurdle for achieving long-lasting gene therapy.

Original languageEnglish
Pages (from-to)301-307
Number of pages7
JournalCurrent opinion in hematology
Issue number5
StatePublished - Sep 2006


  • Adeno-associated virus vector (AAV vector)
  • Adenoviral vector
  • Gene therapy
  • Hemophilia
  • Retroviral vector


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