Inborn Errors Working Party Chair (re-election)
Marina Cavazzana-Calvo
m.cavazzana@nck.ap-hop-paris.fr
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I have had the pleasant task of working and collaborating with the Inborn Errors WP over the past three years. All Members of this group have shown great dynamism through the quality and diversity of their publications and their true commitment to improving the handling of inherited diseases. |
The main achievement for us has been the further development of the European Registry; collecting data for patients enrolled into the four protocols of gene therapy and for inherited diseases, presently ongoing in Europe. The latter has been made possible due to the assistance of the Biodatabase Department at Necker Hospital, managed by Paul Landais and Pierre Taupin; and the fruitful collaboration with gene therapy centres in Milan and London, who joined us in 2002. I would like to take this opportunity to thank Adrian Trasher, Maria Grazia Roncarolo and Alessandro Aiuti for their contribution.
The second major development in 2004 has been in the area of diseases of the metabolism for which two therapeutical approaches may be adopted: hematopoietic stem cell transplantation and enzyme replacement therapy. Recommendations for each patient will be established following a thorough retrospective study on the outcome of allogenic hematopoietic stem cell transplantation in Europe. As part of this, JJ Boelens, Paul Veys, Nico Wulffraat, Rovelli, A. Omeara, Colin Stewart and C. Peters have formed a metabolic study subcommittee. Dr. J. Boelens is responsible for the retrospective data collection and organised a consensus meeting on conditioning regimen, which took place in London on 10th January of this year.
Three other very important studies will be initiated in 2005, the first study will cover the evaluation on chimerism after transplantation, and the second on patients affected by Immune dysregulation, polyendocrinopathy and enteropathy with X-linked inheritance (IPEX). The third will cover patients affected by osteopetrosis. For each of these studies, a subcommittee group has been formed and each one has elaborated specific questions as well as guidelines for diseases.
Finally, we will attempt to relate these clinical studies with basic research in order to improve the diagnosis and therapeutical strategies of many different types of inherited diseases. Two new protocols on gene therapy targeting infection of autologous CD34 cells are to be finalized. I believe that these studies will be accomplished in the next three years and with your support am committed to taking theses projects forward.