“Save the care of bubble babies by March”, the Telethon mission

Pasinelli: “At work to detect the commercialization of gene therapy, if necessary we will do it for others as well. Children cannot be abandoned”

It was 2016 when Strimvelis *, the first gene therapy for the treatment of Ada-Scid, the rare genetic disease of ‘bubble babies’, received the green light in the EU from the European drug agency EMA. It’s been 6 years since then. Years in which the children who received the treatment have grown up, they have been able to play, go to school, grow up with their peers and not remain closed in an aseptic bubble as it happened in the past, to avoid falling victim to viruses and bacteria. Today that gene therapy, the result of long studies by Italian researchers and also carried out on the wave of donations from Italians, would have been at risk of being abandoned. Telethon Foundation announced in July that it would take over its commercialization from Orchard Therapeutics (Otl). “And this path is now at an advanced stage – explains Francesca Pasinelli, general manager of Telethon to Adnkronos Salute – We are confident that we will be able to leave in the first quarter of 2023”.

The intention, he says, is “to take over the activities that are in the hands of Orchard Therapeutics. We confirm our full will to do so. To proceed we had to study how to move, go and see the requirements required by the regulatory bodies, the characteristics that must have the body that will take care of the operation. Dedicated staff and precise legal aspects are needed to keep a drug on the market. Drug that is reimbursed in the EU. And this will relieve us a bit of a considerable economic commitment of startups that we estimate of a few million euros “. The ex factory price of Strimvelis is 594 thousand euros. Next week will be an important moment for the project, because the Telethon Foundation Board will meet on an extraordinary basis to decide on the funds to be dedicated to it.

The plan is to “set up a non-profit organization – which will be a foundation – dedicated to the marketing of the drug. Or rather, to its distribution, because it will not be an organization that does business and there will never be a distribution of profits”, Pasinelli points out. “On the contrary, we are setting up a foundation to create the conditions for which, in the face of specific donations, it is possible to treat even those patients who come from outside Europe and who are not entitled to the reimbursement provided for in the European states. We have a vocation. universal, we would also like to open this path and we hope to succeed “. Telethon will be responsible for production as the holder of the marketing authorization for Strimvelis. Production that will be entrusted to an authorized pharmaceutical workshop with the necessary technological capabilities. The therapy will continue to be administered at the San Raffaele in Milan (where it was born, in the Sr-Tiget laboratories). Therefore, being a fresh product, it will always be produced in Lombardy.

“There is no doubt that these therapies are difficult to sustain for the industry – Pasinelli reasons – as patients are very rare and all the costs related to maintaining the registration, to the infrastructure that must be set up and dedicated, to fixed costs, are spread over a low number of patients. We have the impression that we always reach the limit, but since we do not have to make a profit, we hope that for our reality it can be sustainable. And if in some cases it should be less , we count on dedicated donations “. Telethon Foundation is in the field. Pasinelli assures: “We are willing to apply the model to other therapies” in the same condition as Strimvelis.

For example: the announcement by Orchard Therapeutics which in March raised the alarm bell “concerned two therapies: one – Strimvelis – already on the market and the other ready for the filing of the registration dossier, that is gene therapy for Wiskott-Aldrich syndrome. The company announced that it was decommissioning because it is no longer interested in rare primary immunodeficiency diseases. But at the same time it also said it would take an active part in finding an industrial partner to take it over. Research is ongoing. . If this condition did not occur, then we would also enter the field for this therapy “, announces the Director of the Telethon Foundation. “It is in some ways complex, but the commitment would not be double on the economic level, because a large part of the structure would already be activated”.

“We cannot – Pasinelli observes – allow ourselves to abandon patients for whom there is a therapy. It would be a crime to have developed all these treatments with the generous contribution of Italian donors and the support of patients, and then not administer them. It is true completion of our mission. Telethon was born with this spirit. We intervened in support of research on diseases that patients reported to be neglected. Then, when the research progressed to develop some treatments, we challenged the system a little by finding some industries willing to carry them out. This could lead to believe that rare diseases were of interest, contrary to what was thought in the past. In fact, the interest often arose from the fact that these therapies can be a natural test bed for very innovative that are then used for much broader purposes. Think of Covid “and the mRna platform,” or Car-T for tum ori “.

“Even in the years in which we celebrated this industrial interest with satisfaction, we were aware of the fact that it could not last – Pasinelli recalls – We are talking about ultra-rare diseases. If a disease in which there is one case for every 5 thousand inhabitants is defined as rare. a frequency of one case per 100 thousand inhabitants, or even every million “.

Returning to Strimvelis, which is the first gene therapy that Telethon will market, what are the expected numbers? “The history we have had in recent years at European level was 5-6 patients a year – replies Pasinelli – They are few, but they are 5-6 lives saved. Therapy is one-off, once and for all. If we think about these 5-6 children saved every year, and then we think about the future 5-6 a year who could not have access to therapy, we understand that it is unacceptable not to move to avoid it. I put myself in the shoes of a mother. rare diseases there is no therapy and we go on in the frustration of not being able to cure and of still having to invest in a lot of research that investigates its mechanism and how to correct it. trying to develop a therapy that has already saved many children, it hurts to imagine that we can no longer do it even if we have the tools. We would defeat our commitment and find it gravely guilty towards future generations “.

Hence the commitment of the Telethon Foundation. “And I must say that the institutions are proving rather sensitive to consider our situation. There is an open dialogue. I am not saying that there is a solution, but the impression is that there is a willingness to listen. they reach it by going to work and starting to do things. We do not want to shirk this responsibility that we believe is important and fully respectful of the sick. They are our stakeholders, the goal of all the work “, concludes Pasinelli.