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SMA, play ahead thanks to genetic testing

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SMA, play ahead thanks to genetic testing

Dario – the name is fictitious – was born at the end of October in Puglia and had an opportunity that other newborns cannot have: he discovered he had a rare genetic disease and was able to attack it at its root with an innovative therapy. gene therapy. All within a few days. The disease is called Spinal Muscular Atrophy (Sma) and affects the voluntary muscles necessary for everyday activities: those affected by the most severe form, called type 1, are unable to walk, swallow, control their head and neck. A fate that was unavoidable until a few years ago but today can be countered thanks to innovative therapies, first of all gene therapy. However, it is essential to act in time, before the disease begins to affect the nerve cells. This is why it is necessary to identify sick newborns in the first hours of life, thanks to a screening program. This is what happened to Dario, but which cannot happen to children born in other Italian regions.

Puglia is in fact the only Region to guarantee by law to all newborns screening for Sma, as part of the screening to which all newborns are subjected in search of certain pathologies. A law desired by President Michele Emiliano and which had as its first signatory the regional councilor of the Democratic Party and president of the regional budget and planning commission Fabiano Amati. “We had no hesitation in approving this law, and therefore in bearing the related costs, because we believe that the opportunity to change the destiny of a family, and of the community around it, is worth the effort”, said Emiliano during the course. of the talk “Sma: genetic tests, a right for everyone” during the Health Festival. “In fact, I make a proposal to the new government: to make screening mandatory throughout the national territory according to the scheme of the Apulian law. I am thinking of an emergency decree law because, in my opinion, the requirements of necessity and urgency from a constitutional point of view exist. Every day, every hour of delay risks compromising lives: the screening we have conducted shows that time is of the essence”. Unfortunately, for this disease, even just a few days can make a difference in the loss of some reflexes or skills.

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Acting in time means being able to correct the genetic defect that leads to the onset of symptoms and, in fact, stop the progression of the disease. With gene therapy, in fact, a functioning copy of the defective gene is introduced into the newborn affected by the most severe form of Sma, thus allowing the production of the missing protein in the patients. The results show that, years later, children treated with gene therapy do not develop the symptoms of the disease and have motor development comparable to their healthy peers: they are able to sit up, roll over, walk.

Thanks to the law, around 28,000 tests have so far been carried out in Puglia which have made it possible to identify 3 newborns with the genetic mutation. Dario, the last in order of time, was treated within 20 days of his birth, a record. In addition to Puglia, only five other Regions have moved to date: Tuscany and Lazio, which were the first to start with pilot projects in 2019 and which subsequently extended the screening, followed by Liguria in 2021 and in recent weeks by Piedmont and Campania . In all these cases, however, it is a pilot trial that arises from the collaboration between the public and private sectors and which acts on a voluntary basis: the participating centers offer new parents to participate in the screening. In fact, therefore, even in the Regions where there are pilot projects, not all newborns are guaranteed this test, to which must be added the 13 Regions that do not have any projects. Result: the majority of Italian newborns are not tested and, therefore, children with the genetic defect do not have the opportunity to receive treatment. A denied right – as FamiglieSMA, the association of families, has repeatedly underlined – because today there are effective innovative therapies that make it possible to change the natural history of this disease and which should be guaranteed to everyone.

“It is important to guarantee access to effective therapies with a view to sustainability”, continued Emiliano. “For this we need to collaborate with everyone: Aifa, central government, companies and patients. One can think of a centralized purchasing system or ad hoc refund systems. But beyond the economic issues, it is a political decision”. Also because in the future there will be an increasing number of advanced therapies and the regulatory authorities have already started, together with the companies, to rethink the authorization and reimbursement criteria for the benefit of patients. An example of this is precisely the authorization and reimbursement of gene therapy for which a sustainable system has been developed for the NHS which provides for payment based on the results and spread over several years.

Neonatal screening extended to SMA has shown, in Dario’s case as well as in that of all the other children who have been identified and treated, to be effective and to help make the care of these patients more sustainable. The innovative reimbursement scheme on the one hand, and the results achieved in terms of the health of the children on the other, make it possible to weigh the value of innovative therapies over a long period of time and make it sustainable. A long time, what for these patients was unthinkable until a few years ago and which today instead opens before them.

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