Novel cure for rare bleeding disorder

The X‐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 together with the advanced gene therapy strategies developed at the Netherlands Institute for Neurosciences will be integrated to provide a permanent cure for rare bleeding disorders. SanaGen and Fair Medicine’s mission is to make novel gene therapy approaches available for a fair price to patients worldwide.

Factor X deficiency is a rare bleeding disorder that affects 1 in 500.000 people. Globally over 1700 patients have already been identified. In view of the lack of accurate diagnosis of bleeding disorders it is likely that may patients remain to be identified. Patients with FX deficiency suffer from gastrointestinal and central nervous system bleeds. Current treatment is composed of blood plasma derived products that need to be infused repeatedly. Due to its high costs this treatment is only available for a limited number of patients.

In the current project the aim is to develop gene therapy for patients with FX deficiency which potentially provides a life‐long cure for patients suffering from this rare bleeding disorder.

Within this project they  have generated: 1) an AAV5 based gene therapy vector; 2) a factor X expression cassette under control of a the liver‐specific α1‐antitrypsin promotor and successfully performed 3) in vitro expression studies employing these vectors. Overall, this provides a first step towards a novel potentially life‐long cure for patients with factor X deficiency.