Alessandro Aiuti, Deputy Director of the San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget) and Professor of Paediatrics at the San Raffaele University in Milan, was awarded the 2020 edition of the Else Kröner Fresenius Prize for Biomedical Research, worth 2.5 million euros.

Founded in 1983 in memory of Else Kröner, one of the most important German businesswomen in the pharmaceutical field, the Foundation's purpose is to improve knowledge of the origins of diseases and of the strategies for diagnosis and treatment.

The Biomedical Research Award, first established three years ago, is one of the most prestigious awards worldwide and is assigned to researchers who have significantly contributed to the advancement of biomedical research at the international level.

Gene therapy: the contribution of Alessandro Aiuti

The COVID-19 pandemic has once again underlined the potential for viruses to threaten human health globally. At the same time, however, there are people who are completely defenceless against viruses and other microorganisms because their immune system is defective from birth: this is the case for people with primitive immunodeficiencies, such as adenosine deaminase deficiency (ADA-SCID) or Wiskott-Aldrich syndrome.

Alessandro Aiuti and his collaborators have contributed significantly to the development of an innovative and successful treatment for these diseases: the gene therapy.

In the case of ADA-SCID, a rare genetic disease of childhood which is estimated to be 15 new cases every year in Europe, the genetic defect in the ADA gene translates into a lack of development of lymphocytes, fundamental cells for the defense of our body from infections.

"Without effective therapy, these children rarely survive beyond the age of two, because any infection can be fatal for them," explains Aiuti. “The standard therapy is bone marrow transplantation from a compatible family donor, but this is only available to a limited percentage of patients. Thanks to gene therapy, it has been possible to offer these children lacking a donor a chance of treatment: to date we have treated 36 of them from 19 countries around the world, they are all alive and healthy.  In more than 80% of cases, the treatment we have developed has been so effective that there is no longer any need for enzyme replacement therapy or transplantation. This success is the result of 25 years of overtime work by the researchers and clinical staff at SR-Tiget".

Given the success of the clinical trial, the gene therapy developed for ADA-SCID was approved as a pharmaceutical drug in the European Union in 2016. It is considered one of the milestones in the development of advanced therapies worldwide.

The Else Kröner Fresenius award

For these results, the Else Kröner Fresenius Foundation has assigned Alessandro Aiuti the 2020 edition of its Prize for Biomedical Research.

 "Compared to others, this is a 'young' award: we are only at the third edition - explains Michael Madeja, scientific director and member of the Foundation's board of directors. “We award it to researchers who have made a strong innovative contribution to biomedical research. The main percentage of the prize will, in fact, go to finance the future research of the awarded scientist, to promote further progress in his field of interest for the benefit of the community".

The winner was selected by an international jury composed of ten researchers with proven expertise in advanced therapies and delegates from the Foundation's Scientific Committee.

The jury was chaired by Hildegard Büning, President of the European Society of Gene and Cellular Therapy (ESGCT), who gave these grounds for the decision: "Alessandro Aiuti is a clinician and researcher of the highest level: with his work he has contributed substantially to the development of successful therapies for rare genetic diseases such as ADA-SCID. A therapeutic approach that in the future could potentially be extended to other serious diseases that are currently untreatable".

Future developments in gene therapy research

Alessandro Aiuti will use the funds of the award to further optimize the therapies developed so far, based on an in-depth study of the mechanisms underlying them, but also to develop therapeutic strategies for other diseases based on the experience acquired.

In addition to ADA-SCID, SR-Tiget has developed gene therapy for four other rare genetic diseases:

• Wiskott-Aldrich syndrome;
• metachromatic leukodystrophy;
• beta thalassemia;
• mucopolysaccharidosis type 1.

To date, more than one hundred patients have been treated from more than 35 different countries around the world.

Click here and watch the video of the award ceremony of Professor Alessandro Aiuti.