The Apulian record in the early diagnosis of SMA has been ascertained by the prestigious international scientific journal ‘Annals of Clinical and Translational Neurology’: an editorial product with a scientific object, completely open access and subjected to peer review for the rapid dissemination of high quality research relating to all areas of neurology.
This was announced by Fabiano Amati, councilor and regional commissioner of Action in Puglia. “The title of the study – he continues – is ‘Early treatment of spinal muscular atrophy after neonatal screening: a 20-month review of the first Italian regional experience. Already in the introduction we read about Puglia ‘as the pioneer Italian region in introducing mandatory screening at birth for SMA starting from 6 December 2021’.
The study was written by pediatric neurologists, biologists and geneticists from the Dino Ferrari center of the University of Milan, the Giovanni XXIII pediatric hospital in Bari and the Di Venere hospital in Bari.
One of the most recent cases treated in Puglia concerns a Palestinian child, originally from Ramallah, treated in Bari after emergency transfer from the Gaza Strip. He had arrived in Puglia from Palestine, to resume the care that he could no longer receive in his country.
The gene therapy he underwent is in fact one of the few viable ways to stop the progression of spinal muscular atrophy, and its adoption by the healthcare system was a true revolution. The drug he refers to is Zolgensma – considered one of the most expensive in the world, around two million dollars – and before Italy allowed its use there were several families who undertook journeys to treat their children abroad.
Puglia remembers, as one of the most emblematic cases, that of Melissa, who could not receive the infusion in Italy – since it did not fall within the limits imposed by AIFA, the Italian Medicines Agency, relating to age, weight, tracheostomy and peg – who then received the treatment in the United States. After her, however, things changed, also for another fundamental reason. Puglia was the first Italian region to make newborn screening mandatory in 2021, and in doing so tries to beat diseases to the punch.
[[(gele.Finegil.StandardArticle2014v1) “Screening neonatale per la Sma obbligatorio in tutta Italia”: la proposta di Emiliano e Anita Pallara al Festival Salute ]]
Cases of early diagnosis of SMA in newborns have increased, and in this way it has been easier for these children to access gene therapy in compliance with AIFA indications, and with full cost coverage by the national service. Among the many emblematic stories was that of Antonio, who was able to benefit from gene therapy at four months of life at the beginning of 2021, entering the operating room in a Superman costume and setting the record for the smallest patient in Italy to receive Zolgensma (he was the first in Puglia, the third in Italy).
