Gene Therapy Could Eliminate Infusion Treatments for Hemophilia
According to the World Federation of Hemophilia, approximately 400,000 people around the globe live with hemophilia. However, only about 25% of those with hemophilia receive appropriate treatment. (1) The Centers for Disease Control and Prevention (CDC) estimates that about 20,000 of the afflicted live in the United States, where approximately 400 babies are born with hemophilia annually, and the disorder affects 1 in 5,000 male births. (2) Currently, the disorder is treated primarily with infusions of prepared clotting factor, but researchers continue to make progress toward genetic therapies that could end patients’ need for infusion treatments.
Hemophilia, an inherited bleeding disorder in which blood doesn’t clot properly, can be life threatening because even a minor injury can cause dangerous bleeding. Those whose condition is severe can experience spontaneous bleeds without any kind of injury. So infusions, which are often required several times a week, enable patients to manage the condition.
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However, new gene therapy alternatives may enable patients to potentially end infusion treatments. Gene therapy, as described by the National Institutes of Health, “introduces genetic material into cells to compensate for abnormal genes …,” (3) with the end result being a “corrected” copy of the defective gene—in this case, the gene related to factor VIII (hemophilia A) or factor IX (hemophilia B).
On May 19, Spark Therapeutics and Pfizer Inc. jointly announced that data from their clinical trial showed promising results for three hemophilia B patients. The trio was treated with SPK-9001 gene therapy. According to the press release, “Over the combined 28 weeks of observation …, none of the three subjects received regular infusions of factor IX concentrates to prevent bleeding events.”
Although hemophilia B is less common than A, the researchers consider their results to be very promising for hemophilia treatments. “We are highly encouraged by these initial data, which are supportive of the target profile of a potential gene therapy product capable of eliminating the need for regular infusions to control and prevent bleeding episodes through a one-time intravenous administration,” said Katherine A. High, MD, co-founder, president and chief scientific officer of Spark. (4)
There is hope for gene therapy in hemophilia A as well. On Mar. 1, BioMarin Pharmaceutical Inc. announced that its investigational gene therapy, BMN 270, had been granted orphan drug designation by the U.S. Food and Drug Administration (FDA). Currently, BioMarin is conducting a study to evaluate the safety and efficacy of BMN 270 in up to 12 patients with severe hemophilia A. According to the press release, BMN 270 is an “AAV 5 factor VIII vector designed to restore factor VIII plasma concentrations….” (5)
Time will tell if these new therapies will revolutionize the treatment of hemophilia and end the need for infusions. If it should happen at some point in the future, it will, of course, impact those who provide infusion treatments. However, it’s great news for patients who may eventually be able to live without worry of dangerous bleeds and the disorder’s related comorbidities.
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