Project: UNDERSTANDING THE CAUSES OF HEART DEFECTS IN MYOTONIC DYSTROPHIES
Type 3 von Willebrand Disease is caused by the absence of von Willebrand factor, leading to severe hemophilia. Its prevalence is inferior to 5/1000000, and its treatment necessitates a high blood concentration of von Willebrand factor. A gene therapy ensuring a highly efficient and prolonged in vivo production of the missing factor would be of particular benefit for the patients. Liver is the optimal organ for the secretion and systemic distribution of a therapeutic transgene product. The TRANSPOSMART consortium will assemble and fine-tune “cutting edge” gene therapy tools in combination with either non-integrating or transposon-based integrating approaches for therapeutic protein secretion by the liver. Each partner is 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 physiology. 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 factor in the liver, for blood secretion. The dog large animal study represents a promising translational step toward a clinical trial for the gene therapy of von Willebrand Disease, and ultimately for a large number of gene therapy applications.
| Acronym | HEART DM |
| Duration | 01/01/2013 - 31/12/2015 |
| Project Topic | 4th JOINT CALL FOR EUROPEAN RESEARCH PROJECTS ON RARE DISEASES (JTC 2012) (Driven by young investigators) |
| Network | E-Rare-2 |
| Call | 4th Joint Call for European Research Projects on Rare Diseases driven by Young Investigators |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | IGBMC | Coordinator | France |
| 2 | Fundación investigación Clínico de Valencia | Partner | Spain |
| 3 | University Medical Center Hamburg-Eppendorf, | Partner | Germany |
| 4 | Institute of Myology | Partner | France |