He is fine and has returned home about five weeks after a delicate neurosurgical procedure which saw the infusion of a gene therapy directly into the brain on 22 May at the Policlinico Umberto I in Rome Simone, the three-year-old Sicilian boy suffering from a ultra rare disease, AADC deficiency. His story had become public after his parents had written a letter in March to Prime Minister Giorgia Meloni, and for information to the Minister of Health Orazio Schillaci and the Undersecretary of Health Marcello Gemmato asking for help so that their son, deemed suitable, could receive the therapy already approved at European level and able to change the natural course of the pathology.
The therapy, although authorized at European level, had not yet completed the regulatory process in Italy. Details of the story and the surgery were detailed at a hospital conference today. “Simone is starting to be much more dynamic, he has more energy and is also a little more naughty than usual – explains his father Sebastiano in an interview with Omar, Rare Disease Observatory – we are already noticing something in terms of improvements, but we don’t want to There will be a next hospitalization to take stock a month after the operation”.
The institutions, in particular the Prime Minister Giorgia Meloni and the Undersecretary of Health with Delegation for Rare Diseases Marcello Gemmato who also wanted to visit the child in the hospital, have taken steps to give answers to the family. The first obstacle, that of a regulatory order, was overcome by resorting to the early access procedure established by law 326/2003, Fund 5%, which allows, in specific circumstances of extreme urgency, access to specific funding for therapies approved in the field by the European Medicines Agency even before the completion of the Italian authorization procedures. At the same time, the strategic management of the AOU Policlinico Umberto I – through the Clinical Research and Clinical Competence Unit – started a close collaboration with Aifa, the Italian Medicines Agency, up to the time of the intervention.
A quick and efficient organization lined up all the necessary medical and healthcare expertise for this procedure which involves infusing therapy directly into the brain. The operation – which lasted eight hours – was carried out in one of the magnetic resonance rooms of the Policlinico, one of the most advanced in Italy, inaugurated just a year ago and “transformed” into a neurosurgery room for the occasion. the operation was carried out by Professor Antonio Santoro, Director of Neurosurgery, and by Dr. Luca D’Angelo, Neurosurgeon, supported in the presence of Professor Francesco Pisani, Director in charge, UOC of Child Neuropsychiatry. Eladocagene Exuparvovec, this is the name of the therapy, is indicated for patients aged 18 months or more with a severe phenotype, as in the case of little Simone. The child, in fact, despite being 3 years old is not yet able to speak or walk. In the absence of therapy, his conditions would have degenerated further, while today expectations are different: in fact, it is expected that he will be able to recover several lost growth stages. There are three specialized private centers in Europe for this type of procedure: Montpellier, Paris and Heidelberg.
The Policlinico Umberto I is today the first and only authorized public hospital in Europe. “For the first time in a public hospital, gene therapy was carried out, in vivo, and with a single infusion: an extraordinary result – said Fabrizio d’Alba, Director General, AOU Policlinico Umberto I in Rome – The splendid smile of Simone a few hours after waking up and his resignation after a few days were the greatest reward for the extraordinary effort made by everyone”.