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

The recent approval of Strimvelis, the first 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.