Cure Research for Hemophilia

Research list: The list of research areas and treatments under analysis mentioned in various sources for Hemophilia includes:

Recombinant factor VIII - genetically engineered to avoid risks of disease transmission by infusion.
Recombinant factor IX
Gene therapy

Research discussion: Gene therapy providing continuous production of the deficient clotting factor could be the next major advance in hemophilia treatment. Studies that explore different viral and non-viral gene transfer methods for the delivery of the factor VIII and factor IX gene continue. Efficient expression and secretion of biologically functional protein is critical to the development of effective gene therapy. Basic research studies are unraveling the complex mechanisms that control the production of modified genes which increase the expression levels and enhance biological activity of these coagulation factors. Significant progress has been made in obtaining, modifying and inserting hemophilia genes in animals. Mice with hemophilia, deficient in either the factor VIII or factor IX gene, which exhibit bleeding problems seen in the human deficiency are now available. These small animal models provide valuable tools for testing multiple gene therapy procedures more rapidly than in the larger animal models available previously. Important needs remain to increase the level and duration of gene expression in animals before these procedures are ready for human use. ¹

The ultimate goal is to offer a cure for the disease. Hemophilia is known to be caused by defects in the genes for factor VIII and factor IX. The challenge is to transfer normal genes into a patient so that they will produce the normal clotting protein. A small amount of active factor produced by the patient's own body will correct the disease. Although much remains to be studied before such treatment can be offered to patients, there have been a number of studies done in animals such as mice and dogs in which a factor VIII or IX gene has been inserted and has produced the proper blood product for periods that exceed one year. Major issues that remain to be resolved include the low level of production of the clotting factor, reduction of immune reactions that stop the production after a period, and development of ways to insert the gene directly into the body without manipulating cells outside the body. Until recently, dogs with naturally occurring hemophilia were used for testing of gene therapy techniques; however, the number of such animals is very limited. Recently, a mouse model of hemophilia produced through genetic technology was announced. The availability of this small animal will accelerate the development of technologies for ultimate use in humans. ²

Footnotes:
1. excerpt from Hemophilia Update 1997: NHLBI
2. excerpt from Hemophilia: NHLBI

Last revision: May 28, 2003

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