Gene therapy for rare bleeding disorders

The RBD-CURE project provides a public-private partnership that aims to develop innovative therapies for rare bleeding disorders. The unique expertise of Sanquin on bleeding disorders combined with the advanced gene therapy strategies developed at the Netherlands Institute for Neurosciences and the gene therapy start-up SanaGen have been successfully used to develop novel therapies for rare bleeding disorders.

Over 500.000 to 1.000.000 patients worldwide are suffering from rare bleeding disorders. Suitable treatment for all these patients is not yet feasible; this especially accounts for the developing countries. Treatment for the rare bleeding disorders hemophilia A and hemophilia B is currently facilitated by the availability of a large number of therapeutic products. For patients with lack blood coagulation factor VII, factor XI, factor X, prothrombin, fibrinogen or factor XIII. Current treatment for these patients is composed of blood plasma derived products that need to be infused repeatedly. Due to its overall high costs this treatment is only available for a limited number of patients. In the current project we have generated novel capsid engineered AAV variants that effectively target liver cells. We also have generated optimized expression cassettes for AAV based gene therapy. The technology has been successfully used for establishing a gene therapy vector that can be used for treatment of patients with FVII deficiency. The platform developed can also be used for designing gene therapy vectors for treatment of other liver disorders.