Telethon Foundation will be the first non-profit in the world to take charge of the production and distribution of a drug for a rare disease, a gene therapy born in the laboratories of the San Raffaele-Telethon Institute for Gene Therapy in Milan, the only one in the world authorized to administer it. The new model, which required a lot of work and also the creation of new processes and professional figures, was presented during a press conference in which the Telethon Foundation also guaranteed that the solution can also be adopted with other drugs, if the situation requires it. The important decision was taken following the announcement of the pharmaceutical manufacturing company, Orchard Therapeutics PLC, to disinvest in rare diseases, a trend common to other pharmaceutical and biotechnology companies, for reasons of insufficient economic return. Without the intervention of Telethon, this would have meant the unavailability of the life-saving drug for all those cases in which there are no other routessuch as haematopoietic stem cell transplantation, due to the lack of a compatible donor.
We are not an alternative to the industry, but this is a model for those cases in which there are no other ways to guarantee patients the drug
Francesca Pasinelli, general director of the Telethon Foundation
An expansion of the mission
«The mission of the Telethon Foundation is to advance biomedical research towards the treatment of genetic diseases. Our vision today is that of transform promising research results into therapies accessible to patients. We are at the center of a universe made up of patients, families, researchers, volunteers, donors (there are 150 thousand continuous ones) and companies that support us. What we announce today is a restitution to all of them, without whom it would not have been possible. Since 1990 we have invested 660 million in research” he said at the press conference Francesca Pasinelli, general director of the Telethon Foundation, in explaining the reasons behind this important step, “in line with our mission”. When you arrive at a life-saving drug for a rare and ultra-rare disease and successfully follow the path of technology transfer up to approval by regulatory authorities, you believe you have achieved your primary objective. «It was therefore a real cold shower for everyone to discover that the drug was about to be withdrawn from the market due to poor profitabilityhe said, describing the one proposed by Telethon as a “sustainable model of access to the market for these therapies for rare and ultra-rare diseases, both for those responsible for production and marketing and for the healthcare system”. Be careful, though: “We are not an alternative to the industry, but it is only for those cases in which there are no other ways to guarantee patients the drug.”
The Ada-Scid disease
Severe combined immunodeficiency due to adenosine deaminase deficiency Ada-scid is an ultra-rare disease, where a defective gene blocks the production of an enzyme necessary for the production and maturation of lymphocytes. This makes the immune system of children affected by it incapable of responding correctly to the threats of infection and for this reason they must live isolated in sterile environments, so much so that they are called bubble children. Impairment of the immune system if left untreated can lead to death already in childhood.
As a doctor, researcher, manager of a staff of many young researchers, I thank Telethon. This turning point is an act of courage and responsibility and will change the perspective of our future work
Alessandro Aiuti, San Raffaele Telethon Institute for gene research
Gene therapy
The first child to receive treatment was Salsabil, a small Palestinian from the occupied territories, who is now 22 years old and leads a life like everyone else her age. Overall, 45 children from 20 countries around the world were treated with ex-vivo gene therapy, which involves the correction of the defective gene outside the organism. «The drug requires complex processing, it is prepared from hematopoietic stem cells taken from the patient himself. The correction of the defect occurs through a viral agent that transports the correct gene, so the cells are re-infused into the child who, after a single administration, returns to living normally” he explained Alessandro Aiuti, deputy director of the San Raffaele Telethon Institute for gene research, who spoke of a «historic day. As a doctor, researcher, manager of a staff of many young researchers, I thank Telethon. This turning point will change the perspective of our future work, there will be the certainty that there is still a way to guarantee the availability of gene therapies for rare diseases. This is a trailblazing model for other diseases, but also an act of courage and responsibility towards parents, donors, researchers that the efforts are not wasted, and towards the entire sector, because an opportunity may arise, others abroad look to Telethon as an example”.
How did it come to this
Having completed the development of gene therapy and verified its effectiveness, in 2010 the Telethon Foundation and San Raffaele signed an agreement with the multinational GSK for development and commercialization. «We built an alliance with a large multinational thinking that everyone should do their part» admits Pasinetti. Thus, Strimvelis became the first ex vivo gene therapy approved in the European Union but a year after its approval, in 2017, following a change in top management, GSK withdrew. In 2018, it transferred its gene therapy portfolio to Orchard Therapeutics, a British biopharmaceutical company focused on blood stem cell gene therapy, which also decided to disinvest in rare diseases, a trend common to other pharmaceutical and biotechnology companies, for reasons of insufficient economic return. “Learning about the intention to discontinue investments in programs dedicated to primary immunodeficiencies, strimvelis and the therapy for Wiskott-aldrich syndrome, and that therefore the drug would no longer be available was a cold shower” said Pasinelli. «Within a few hours we said to ourselves that we would not make this possible. We have requested that the marketing authorization for Strimvelis be transferred to us. On July 17, 2023, the Telethon Foundation became the owner of a therapy».
An exemplary model
“On this important day,” he said Luca Cordero di Montezemolo, president of the Telethon Foundation «The harmony with the pharmaceutical industry remains, but the decision was necessary given the unavailability to market a drug considered not profitable enough. Let us become an example for other companies, including private companies, to invest in research.” Enrica Giorgetti, general director of Farmindustriarecalls his commitment to rare diseases and says: «We hope to be able to accompany this innovation in this development, Farmindustria is in any case your family».
Concern about the «fragility of the commercial system of advanced therapies for rare and ultra-rare diseases» was expressed by Simona Bellagambi, vice president of Eurordis Rare disease Europe, which brings together over a thousand patient organizations affected by a rare disease, but also «great pride in this new Italian model to be brought to an international level so that no one is left behind».
The Telethon marathon
«The results obtained by Telethon thanks to the funds of the Rai marathon, the company that gave us a voice, are proof that a public service, if done well, can be fertile and bring benefits to the Italian and global community» said Pasinelli, to whom he replied Stefano Coletta, former Rai entertainment manager: «A week, from 9 December evening to 17 December, in which radio, TV and digital will convey the messages and initiatives of the Foundation which ennobles our work and has given Rai credibility and authority, with its important range of values».
Opening of the XXI Telethon Foundation Scientific Convention 2023 in Riva del Garda (photo Daniele Panato/Panato Agency)