Factor X deficiency
Factor X deficiency is a severe rare inherited bleeding disorder (RBDs) and affects 1 in 500,000 people. FX is a glycoprotein in the coagulation cascade and is the first enzyme in the common pathway of thrombin formation. FX is synthesized in the liver and encoded by the FX gene (F10). The bleeding symptoms start at any age, although the more severely affected (<1% activity) present early in life with umbilical stump, central nervous system, or gastrointestinal bleeding and commonly experience hemarthroses and hematomas. The proportion of FX-deficient patients requiring treatment is higher than in other rare bleeding disorders. There is currently no cure for FX deficiency and the main therapy is the administration of plasma-derived purified FX protein or plasma derived prothrombin complex concentrate (PCC) by intravenous infusion. Both of these therapies are suboptimal treatments, as they must be infused on a regular basis (twice per week) for the entire life of the patient. This results in a high treatment burden for the patient and a very high cost for the healthcare system, as the biologic therapies are expensive and must be continually used. An ideal treatment would be a one-time cure, which is durable and provides superior efficacy than current options. Our gene therapy program attempts to make this ideal cure a reality.