28. Current and Future Approaches to Gene Therapy in Patients with Hemophilia

  1. Emérito-Carlos Rodríguez-Merchán MD, PHD3,4 and
  2. Leonard A. Valentino MD5
  1. Maria-Teresa Alvarez-Román MD1,
  2. Monica Martín-Salces MD1,
  3. Victor Jiménez-Yuste MD, PhD2,4 and
  4. Emérito-Carlos Rodríguez-Merchán MD, PHD3,4

Published Online: 12 MAY 2011

DOI: 10.1002/9781119979401.ch28

Current and Future Issues in Hemophilia Care

Current and Future Issues in Hemophilia Care

How to Cite

Alvarez-Román, M.-T., Martín-Salces, M., Jiménez-Yuste, V. and Rodríguez-Merchán, E.-C. (2011) Current and Future Approaches to Gene Therapy in Patients with Hemophilia, in Current and Future Issues in Hemophilia Care (eds E.-C. Rodríguez-Merchán and L. A. Valentino), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119979401.ch28

Editor Information

  1. 3

    Department of Orthopedic Surgery and Hemophilia Unit, La Paz University Hospital, Spain

  2. 4

    School of Medicine, Autonomous University, Madrid, Spain

  3. 5

    Hemophilia and Thrombophilia Center, Rush University Medical Center, Chicago, IL, USA

Author Information

  1. 1

    La Paz University Hospital, Madrid, Spain

  2. 2

    Department of Hematology and Hemostasis Unit, La Paz University Hospital, Spain

  3. 3

    Department of Orthopedic Surgery and Hemophilia Unit, La Paz University Hospital, Spain

  4. 4

    School of Medicine, Autonomous University, Madrid, Spain

Publication History

  1. Published Online: 12 MAY 2011
  2. Published Print: 13 MAY 2011

ISBN Information

Print ISBN: 9780470670576

Online ISBN: 9781119979401

SEARCH

Keywords:

  • hemophilia;
  • gene therapy;
  • treatment;
  • viral vectors;
  • non-viral vectors

Summary

Hemophilia is an X-chromosome-linked recessive bleeding disorder resulting from a F (factor) 8 gene abnormality in hemophilia A and a F9 gene abnormality in hemophilia B. Current products used to replace FVIII or FIX are effective and safe. Nevertheless, gene therapy offers these patients the possibility of achieving a sustained correction of the coagulation defect for their lifetime. Hemophilia has been considered one of the best candidates for a variety of novel gene therapies due to four main factors. First, it is a monogenic disease involving a single protein. Second, small increments of clotting factor levels (2–3%) have shown to have a substantial reduction in the clinical manifestations of the disease. Third, it is easy to measure the activity of transgene (clotting factor activity) delivery through well-defined coagulation assays and finally, there are excellent animal models available. These four factors make hemophilia an excellent disease to investigate gene therapy. Initial clinical trials examining the safety and efficacy of gene transfer in hemophilia have been completed and have demonstrated that gene therapy is feasible; however, there are some obstacles to overcome prior to clinical application.