The Need for Gene Therapy for the Effective Treatment of Hemophilia

M.S. is now a 23 year old man who lives in the Caribbean islands. He was born with severe Factor VIII deficiency and at an early age developed Factor VIII inhibitors. He and his family fly from the islands to the U.S. mainland to receive routine hemophilia care since there are no physicians taking care of hemophilia patients and no hemophilia treatment centers on the islands. He has been exposed to various factor products throughout his life including cryoprecipitate, Factor VIII plasma concentrates, and recombinant Factor VIII products. He has also received bypass agents including recombinant activated Factor VII and activated prothrombin complex concentrates, both of which have been very difficult to access. He has acquired Hepatitis C from one or more of his exposures, but remains HIV negative. Despite the presence of inhibitors, he has been unable to undergo immune tolerance induction therapy because of the lack of access to a reliable supply of factor. Because he has been unable to undergo ITI, he has suffered numerous bleeds throughout his life that has left him with hemophilic arthropathy in all of his major joints. He has also had three life-threatening bleeds caused by head injuries that he survived using the limited supplies of bypass agents. He is in chronic pain from his arthritis and has acquired a learning disability from his head bleeds.