Funding transnational collaborative research through joint transnational calls is one of the major objectives of E-Rare. This is the most important and effective joint activity to enhance the cooperation between European scientists working on rare diseases and thus reducing the fragmentation of research in this field. E-Rare launches calls on a yearly basis. The topic and eligibility criteria are specified every year and therefore may vary from one call to the other.

An innovating platform using transposon and S/MAR for von Willebrand disease gene therapy

Project Coordinator

Pharmacologie Chimique et Genetique et d'Imagerie CNRS


Aglaia Athanassiadou Department of Biology University of Patras Medical School Patras, Greece
Anja Ehrhard Department of Virology Ludwig-Maximilians-University of Munich Max von Pettenkofer Institute Munich, Germany
Eithan Galun Hadassah Hebrew University Hospital Goldyne Savad Institute for Gene Therapy Jerusalem, Israel
Karen Vanhoorelbeke Laboratory for Thrombosis Research KU Leuven Campus Kortrijk Kortrijk, Belgium
Zsuzsanna Izsvak Cardiovascular, Max Delbruck Center for Molecular Medicine Berlin, Germany

Type 3 von Willebrand disease, which has a prevalence below five per million, is caused by the absence of the haemostatic protein von Willebrand factor, leading to a severe bleeding disorder. Since the disease treatment requires high blood levels of von Willebrand factor, a therapeutic approach ensuring highly efficient and prolonged in vivo production of the missing protein would be of particular benefit for the patients in terms of health, comfort of life and cost. Liver is an optimal organ for the secretion and systemic distribution of a therapeutic transgene product and has been shown to efficiently express the functional transgene von Willebrand factor. The TranspoSMART consortium will assemble and fine-tune “cutting edge” gene therapy tools in combination with either a non-integrating approach or a transposon-based integrating approach for high and sustained level of therapeutic protein secretion by the liver. Each partner is an expert in one of the key technologies to be integrated: pFAR biosafe miniplasmids, hyperactive Sleeping Beauty transposon system SB100X, adenovirus/ transposon hybrid technology, Scaffold/Matrix-Attachment Region, and gene delivery to the liver by either plasmid hydrodynamic or adenoviral techniques. Our consortium gathers recognized leaders in the field of gene therapy and of von Willebrand disease pathophysiology. The consortium will apply the added value of this integrated platform to mouse and dog models of von Willebrand disease. Our approach offers an optimal strategy to deliver and express the von Willebrand factorencoding gene in the liver, for blood secretion. The dog study represents a promising translational step towards a clinical trial for the gene therapy of von Willebrand disease and ultimately for a number of gene therapy applications.

E-Rare 2012 - Created by Toussaint Biger