Rare diseases, gene therapy on little Simone at Umberto I after government intervention

2023-06-23 13:59:00

At the Policlinico Umberto I in Rome the first intervention in Italy of gene therapy infused directly into the brain for a very rare disease. It is the Aadc deficit, the disease from which little Simone suffers, who underwent the delicate operation in May. His story had leapt into the news last March, after his parents had written a heartfelt letter to the government asking for help so that their son could receive the therapy he urgently needed and which other children had already received in France and Germany.

The innovative gene therapy was the boy’s only hope of changing the natural course of his disease. And Simone was, in fact, the only one of the 16 Italian patients eligible to receive this therapy which, however, despite being authorized at European level, had not yet finished its regulatory process in Italy, where patients are waiting for the use to be authorized even by the Italian Medicines Agency. Simone’s parents, Sebastiano and Sabrina, were also waiting. But in March, after more than 7 months of waiting and two years after the diagnosis, after the umpteenth hospitalization of their son, they understood that there was no more time to lose and decided to write to the institutions.

The family’s appeal was immediately accepted by Prime Minister Giorgia Meloni and the Undersecretary of Health with responsibility for rare diseases Marcello Gemmato who, together with Aifa, took action to find a solution. And finally, in May, the child underwent surgery at the Umberto I Polyclinic in Rome, the only Italian center equipped and authorized to perform the delicate procedure which involves infusing the therapy directly into the brain. His story, like that of research, will be told in a press conference on Tuesday 27 at 10.30, in the central hall of the general management of the hospital, organized by the Umberto I hospital and Sapienza University of Rome in collaboration with Omar (rare diseases observatory) and with the non-conditioning contribution of Ptc Therapeutics.