Hemophilia is a lifelong, inherited bleeding disorder caused by low levels, or absence of a protein called a clotting factor, essential for blood clotting.  This inability to clot results from an error in a person's genetic code, and occurs in approximately 1 in 10,000 male births.  It is estimated that over 400,000 people worldwide suffer from hemophilia, of which only 25% currently receive therapy.

There are two types of hemophilia, hemophilia A and hemophilia B.  Hemophilia A is caused by a lack of Factor VIII and hemophilia B is caused by a deficiency of Factor IX.

The genetic mutation interferes with the production of normal amounts of functional clotting protein.  The resulting defect impacts the clotting cascade, a series of steps where the body's clotting factors interact resulting in normal clot formation and thus control bleeding.  One of the Factors is missing or not working correctly in a person with hemophilia.  This can lead to uncontrolled internal bleeding which may occur following injury or surgery.  In the most severe form of hemophilia, bleeds can, at times, occur without obvious injury.  Depending on the site, these bleeds can result in severe joint, neurological, and organ damage.

Bleeding episodes are treated with currently FDA licensed and commercially marketed clotting Factor therapies, which are either extracted from human blood plasma (plasma derived products) or manufactured using genetically engineered cells that carry a human factor gene (recombinant products).  Due to the small molecular size and fragile nature of the Factor proteins, all are currently administered intravenously directly into a vein. 

Therapy for hemophilia is either “on-demand” to control  a bleeding episode, or “prophylactic”, where the Factor product is administered on a regular schedule to avoid spontaneous bleeding episodes.  There is a growing body of evidence that suggests prophylactic treatment of hemophilia enables patients to live more normal, productive lives.  Therefore, providing a non-invasive product for a successful prophylactic treatment regimen would represent a major breakthrough in hemophilia treatment.

For more information on hemophilia and its treatments please go to the websites of the World Federation of Hemophilia, www.wfh.org, the National Hemophilia Federation, www.hemophilia.org and the Coalition for Hemophilia B, www.coalitionforhemophiliab.org.