Fondazione Telethon - Stefano Benvenuti
Looking for Partnership Looking for Extra EU Funds
Telethon Foundation is an Italian non-profit organization that has been supporting bio-medical research on rare and genetic diseases for more than 25 years. The vision of the Telethon Foundation is to translate research results into therapies available to patients. Telethon, besides being an Italian organization, is committed to treat any patient in the world affected by a rare genetic disease and believes that fighting genetic diseases is a worldwide challenge. Over the years Telethon Foundation has invested more than 500 million US $ funding over 2500 research projects involving more than 1500 scientists.
Telethon runs 2 research institutes, the Telethon Institute for Genetic Medicine (TIGEM) and the San Raffaele Telethon Institute for Gene Therapy (SR‐Tiget).
Telethon main achievement is probably the market authorization released by the European Medicine Authority on April the 1st 2016 for STRIMEVELIS, hematopoietic stem cell (HSC) gene therapy with gammaretroviral vectors for Adenosine Deaminase Severe Combined Immunodeficiency (ADA‐SCID). The final steps of the commercialization process was completed thanks to the collaboration with a major pharmaceutical company but Telethon research is responsible for the greatest part of the pipeline of development for this therapy.
Other major results are the two first‐in‐human pivotal clinical trials of HSC gene therapy with lentiviral vectors for Wiskott‐Aldrich Syndrome (WAS) and Metachromatic Leukodystrophy (MLD) both of which started in 2010 and are now in the follow-up phase. A third HSC gene therapy clinical trial with lentiviral vectors, initiated in 2015, for beta‐thalassemia.
In addition to research strictly focusing on therapy development, Telethon is also supporting “research infrastructure” such as biobanks and patient registries for the benefit of the whole research community working in the field of rare diseases.