“If there is a cure, we can’t let it go unavailable.” Francesca Pasinelli, general manager of Telethon, has been trying for months to resolve what might seem to all intents and purposes a paradox: a life-saving drug, obtained after years of research, runs the risk of no longer being available because the pharmaceutical company that distributes it he considers it quite lucrative.
The innovative therapy (Strimvelis) capable of treating children suffering from a disease of the immune system (Ada scid deficiency) is in little demand: only 4-5 cases per year.
Too few compared to the costs necessary to keep the drug available on the market. And to think that thanks to this first ex-vivo gene therapy in the world, approved by the European Medicines Agency in 2016 and obtained thanks to research initiated and supported by the Telethon Foundation, children with a relentless diagnosis have been able to recover for 7 years. Without this treatment, there is no alternative for young patients. In fact, the diagnosis is implacable: the ada scid involves the lack of production of an enzyme that forces children to live isolated, in order not to be exposed to pathogens. For the families who received the diagnosis in the past years it was the beginning of a nightmare, often without hope. The therapy now available, however, using a viral vector corrects the genetic defect in the patient’s stem cells, which then begin to produce the missing enzyme, and thus the correct functioning of the immune system is restored.
THE THERAPY
«It is to all intents and purposes a life-saving therapy – explains Pasinelli – for patients affected by this very rare genetic disease there is no alternative. It is a drug that we have developed entirely within Telethon. We had found a pharmaceutical company that had obtained marketing authorization. And now it is therefore available as assistive therapy. It can only be taken in hospital.” Patients who have undergone this innovative treatment also arrive in Italy from other countries; the drug is administered only at the San Raffaele Institute in Milan.
«Being a very rare disease – underlines Pasinelli – the children who need this treatment are naturally few. Usually the disease is diagnosed about 4-5 times each year. The hiring is one-off.” For the budgets of the pharmaceutical company, the cases handled are too few. «Effectively, keeping a product on the market involves costs – admits the director of Telethon – and so, for reasons of expediency, the manufacturer has decided to abandon the so-called aic, ie the marketing authorization. This decision effectively leads to the disappearance of the product. Technically, that is, it is no longer available to patients who need it ».
THE SOLUTION
Unfortunately, there are still many rare diseases for which there is no cure. «The paradox is that in this case this very serious pathology has a cure. That’s why, without even thinking about it, we decided to take charge of it ourselves – continues Pasinelli – In the past years we were first actors and financiers of scientific research, then we became developers of therapy. Now we will also become drug distributors, ie we will be the holders of the marketing authorisation; we will therefore have the possibility of distributing the drug as a pharmaceutical industry does». The road now seems smooth, but there are still many obstacles.
“We have completed the negotiation with the company for the withdrawal of this marketing authorization and we are now building the whole team dedicated to this new challenge”. In a few months, therefore, the drug will be distributed by Telethon. «The sale is already underway – assures Pasinelli – Meanwhile we have asked the pharmaceutical company to continue to do its part. The drug will therefore continue to be available.
But first you have to deal with the bureaucracy. «The biggest difficulty – admits the director of Telethon – consists in some constraints on the fees that we have to respect as we are non-profit organizations. According to the law on the third sector, in fact, it is not possible to exceed certain thresholds. But we have to come to terms with the fact that in order to acquire the skills necessary for our goal, we need to pay market wages. A change to the law currently in force would be needed, but this step would require more time. We hope that within extremely reasonable logics it will be possible to correctly remunerate all those professionals who also want to work in a non-profit structure. We will continue to commit ourselves and we will do everything possible to ensure that no child is left behind”.
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