Jeff Marrazzo is Co-Founder and CEO of Spark Therapeutics. In this video, he discusses his company’s investigational gene therapy programs focused on Hemophilia. Hemophilia is most typically a rare genetic bleeding disorder that causes a delay in clot formation as a result of a deficiency in one of several blood-clotting factors. The most common type of hemophilia is hemophilia A or factor VIII deficiency, affecting 1 in 5,000 males. Hemophilia A is about four times as common as hemophilia B, which is due to a deficiency of factor IX.
Hemophilia is inherited, meaning that it’s passed through the parents’ genes or DNA, although approximately one-third of cases are due to spontaneous mutation, or change in a gene. The genes for hemophilia A and B are carried on the X chromosome. Therefore, hemophilia is called an X-linked (or sex-linked) disorder. Men are affected by hemophilia and women are considered “carriers.” Though rare, women can have hemophilia, too.
The current standard of care for hemophilia is to control or prevent bleeding episodes through clotting factor replacement therapy, which is taken for life. Replacement factor is either recombinant (genetically engineered) or plasma-derived (from healthy blood donors) and must be delivered by frequent intravenous (IV) infusions.
