What Is the Goal of Gene Therapy for Hemophilia Patients?

What Is the Goal of Gene Therapy for Hemophilia Patients?

Gene therapy holds much promise for individuals with a wide variety of conditions, including types of cancers, AIDS, diabetes, heart disease, and hemophilia. This innovative approach to treatment alters genes inside the body’s cells to stop the disease. Gene therapy attempts to replace or fix mutated genes and make diseased cells more evident to the immune system. Hemophilia A and B are inherited as part of an X-linked recessive pattern. Hemophilia genetics involve genes found in the X chromosome, and it takes just one faulty gene to lead to this bleeding disorder. Cell and gene therapies are still under study, but the results are promising. Clinical trials have shown success, and the Food and Drug Administration (FDA) has approved one type of cell therapy. In our "Key Considerations: Advances in Gene Therapy for Hemophilia," led by Glenn F. Pierce, we discuss an overview of the disease, the current state of gene therapy, and more.

What Is Gene Therapy for Hemophilia?

Hemophiliacs have a defective gene, and that gene causes them to lack the right proteins necessary for blood to clot. The missing protein is what defines the type of hemophilia. Those with hemophilia A lack factor VIII, and those with hemophilia B, factor IX.

For decades, treatment for these two forms of hemophilia involved taking a working copy of the necessary protein, factor VIII or factor IV, and infusing the patient with it. This replacement therapy is the foundation for hemophilia treatment, but it requires long-term treatment. Gene replacement therapy doesn’t just provide the missing protein to clot blood. The goal is to replace the defective gene instead. It is an ambitious objective, but it would correct the problem at its very foundation. By fixing the genetic flaw associated with hemophilia, the treatment enables the body to make its protein, so there is no need for further treatments.

How Gene Therapy for Hemophilia Works

Gene therapy for hemophilia typically uses a modified virus, so it does not cause disease. The modified virus also acts as a vector to introduce a copy of the gene necessary for the clotting factor. Viruses work well as vectors because they can enter cells and deliver genetic material. The modification of the virus means it only provides therapeutic genetic material. The vectors go into the patient’s liver cells, and the liver creates the different elements needed by blood, including clotting factors VIII and IX. Once the virus deposits the functioning gene into the liver cells, the gene therapy tells the genes to produce the blood's active clotting factors.

What Is the Goal of Gene Therapy for Hemophiliacs?

Gene therapy can produce a long-term solution for those at risk for severe bleeding episodes and replace the faulty gene with one that works.

The one and done treatment approach can mean that hemophilia patients who now must endure frequent intravenous infusions to obtain the necessary clotting factors might be able to have one single-dose treatment. That makes gene therapy for hemophiliacs a revolutionary and life-changing option. It can give those with the disease new freedom and a chance to increase their activity.

The question that remains about this treatment approach is one of durability. Both animal and human clinical studies have shown the treatment lasts for years. However, it is a new concept, so it will take time to see if the single-dose treatment lasts.

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Supported by educational grants from Bayer, BioMarin, CSL Behring, Freeline Therapeutics Limited, Pfizer Inc., Spark Therapeutics, and uniQure, Inc.

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