Patient-driven search for rare disease therapies: the Fondazione Telethon success story and the strategy leading to Strimvelis

Abstract

The recent approval of Strimvelis, the first ex vivo gene therapy to gain marketing authorization (Schimmer & Breazzano, 2016), has drawn attention to Fondazione Telethon, the Italian charity that played a pivotal role in this effort. Although it is not uncommon that advanced therapies, such as Strimvelis, are developed by partnerships between academia and industry, direct involvement of a charity in key steps of this process is still unusual. Illustrating the strategies and operational model adopted by Fondazione Telethon to achieve its mission of supporting excellent research aimed at curing rare genetic diseases may elucidate some of the enabling factors behind the Strimvelis success story.

Figure 1. The pillars of Fondazione Telethon's commitment to research

(A) Scientific excellence is safeguarded by the rigorous and transparent selection of the best research projects by an international scientific committee and by the steering of the research portfolio by an expert scientific advisory board, which contribute to the constant increase of Fondazione Telethon's scientific outputs. (B) Translational drive is exerted by constantly steering research toward clinical applications and has gradually shifted research investments from fundamental research to pre‐clinical and clinical studies. Research costs exclude unallocable costs such as intramural fixed costs, open‐access fees. Source: Fondazione Telethon's TRic database. (C) The development of therapies requires partnerships with biotech/pharma companies. Five major alliances have been achieved by Fondazione Telethon in the past 6 years for the major research areas in its intramural institutes SR‐TIGET and TIGEM. For SR‐TIGET, partnerships are co‐signed by Fondazione Telethon and the San Raffaele Hospital in Milan.