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.

Novel Gene Therapy for Thalassemia: Pre-clinical Development and Assessment in Animal and Stem Cell Models

Project Coordinator

Biomedical Foundation of the Academy of Athens (BRFAA)


Verhoeyen Els Centre international de recherche en infectiologie (CIRI)/ INSERM Lyon, France
Schmidt Manfred National Center for Tumor Diseases (NCT) and German Cancer Research Center (DKFZ) Heidelberg, Germany
Leboulch Philippe Commissariat à l'énergie atomique et aux énergies alternatives (CEA) Fontenay-aux-Roses cedex, France

This proposal based on the successful completion of the previously EU-funded GETHERTHAL project (11Ε-RARE-09-155), aims to further improve and advance the technology of gene therapy for thalassemia and prepare the ground for efficient clinical trials with improved safety. Gene therapy utilizing lentiviral vectors (LVs) is postulated as a real therapeutic alternative for β-thalassemia. A major limitation of current LVs is their inability to achieve efficient gene transfer into quiescent cells, such as human CD34+ cells. Thus, the major current drawbacks of the field affecting therapeutic efficacy, include 1) insufficient transduction efficiency of the target hemopoietic stem cells, 2) inconsistent expression of the transgene, 3) putative aberrant expression near integration sites raising safety issues and 4) lack of long term expression of the transgene exhibiting eventual silencing. To this end, the current proposal expanded to include the pioneering research group of Professor P. Leboulch, aims to address comprehensively specific issues of the globin gene transfer and therapy, by the 1) improvement of current vector technology, 2) development of novel strategies for cell targeting and finally 3) establishing an extensive genotoxic study for the generation of a cell model that will permit and predict patient safety for future clinical trials. These data are expected to offer the basis for optimization of patients' quality of life and have a beneficial impact on European economy.

E-Rare 2012 - Created by Toussaint Biger