Wiesbaden, May 2, 2011 (PMS). Today, pediatricians Dr. med. Kaan Boztug (Vienna, formerly Hanover) and Prof. Dr. med. Christoph Klein (Munich, formerly Hanover) were honored with the Paul Martini Prize for developing a gene therapy for the rare immune disorder known as Wiskott-Aldrich syndrome. The award celebration took place during the annual meeting of the German Society for Internal Medicine (DGIM) in Wiesbaden. The EUR 25,000 prize is awarded each year by the Paul Martini Foundation in Berlin for outstanding achievements in clinical-therapeutic research.

The hope to cure hereditary diseases through gene therapy is as old as gene technology: According to the concept, body cells impacted by a hereditary disease are removed, equipped with an intact gene at the lab and reintroduced into the body where they can now function correctly. However, many such attempts have remained unsuccessful, so not a single gene therapy outside of studies was able to obtain regulatory approval. Only the prize winners have succeeded in developing an effective gene therapy for the hereditary disease known as Wiskott-Aldrich syndrome.

The rare Wiskott-Aldrich syndrome (WAS) is a serious immune system disorder caused by a defective gene on the X chromosome. The patients, boys in most cases, suffer from infections, skin disorders, blood clotting problems, joint inflammation and other autoimmune reactions. Often, they die after just a few years of life. The previous treatment based on blood stem cell transplants from foreign donors bears considerable risks, if no stem cell donor with an optimal tissue match with the patient can be found. Together with other colleagues, Adjunct Professor Dr. Boztug and Professor Dr. Klein have developed and applied a new gene therapy for this syndrome (published in 2010 in the New England Journal of Medicine): They took bone marrow stem cells from two boys, equipped them with functional genes at the lab and reintroduced them into the bone marrow of their patients where they multiplied well. Both patients subsequently experienced the cessation of their autoimmune reactions, they no longer suffered from hemorrhages and infections occurred less frequently.

Since then, the physicians have treated eight other patients with the same method. In seven of them, a lasting improvement was observed. One patient developed leukemia, but it was treated successfully.

The clinical trial was able to be implemented thanks to financial support from Deutsche Forschungsgemeinschaft, the German Federal Ministry of Education and Research and the international Care-for-Rare Foundation, a foundation for children suffering from orphan diseases.

In his congratulatory remarks, Professor Dr. Peter C. Scriba (Munich) stressed that the new approach can also be applied for other hereditary diseases. This achievement documents the high quality of clinical research in Germany.

The Paul Martini Foundation

The non-profit, Berlin-based Paul Martini Foundation promotes pharmaceutical research as well as research on pharmaceutical therapy and intensifies the scientific dialog between medical scientists at universities, hospitals, the research-based pharmaceutical industry, other research institutions, and representatives from health policy and government agencies. The foundation is sponsored by the German Association of Research-based Pharmaceutical Companies (vfa), Berlin, and its currently 45 member companies.

The foundation was named after the outstanding scientist and physician from Bonn, Professor Paul Martini (1889 - 1964), in honor of his special achievements and service with regard to the advancement and continued development of clinical-therapeutic research, which he impacted significantly for decades with his "Methods of Therapeutic Examination" published in 1932.

The press release, CVs and photos of the prize winners can be downloaded here.