Rome, June 27, 2023 – He is fine and has returned home about five weeks after a delicate one neurosurgical procedure who saw on 22 May last theinfusion of gene therapy directly in the brain at the Policlinico Umberto I in Rome, Simone, the Sicilian child of three years affected by one ultra rare diseaseAadc deficiency (Aromatic L-Amino Acid Decarboxylase 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 there therapy already approved at European level and capable of changing the natural course of the disease.
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 begins to be much more dynamic, has more energy and is also a a little more naughty than usual – explains father Sebastiano in an interview with Omar, Rare Disease Observatory – in terms of improvements we are already noticing somethingbut we don’t want to get carried away. There will be an upcoming hospitalization to take stock a month after the operation”. The institutions, in particular the Prime Minister Meloni and the Undersecretary for Health with Delegation for Rare Diseases Gemmato, who also wanted to visit the child in hospital, they took action 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, to access specific funding for therapies approved in Europe 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 work with Aifa, the Italian Medicines Agency, up to the moment 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 intervention – lasted eight hours – was carried out inside one of the halls of magnetic resonance of the polyclinicone 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 Antonio Santoro, director of Neurosurgery, and by Luca D’Angelo, neurosurgeon, supported in the presence of Francesco Pisani, director in charge of UOC of Child Neuropsychiatry.
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Eladocagene Exuparvovecthis is the name of the therapy, is indicated for patients of age 18 months or older with severe phenotype, as in the case of little Simone.
The child, in fact, despite being 3 years old he is still unable 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 can recover different stages of growth lost. 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 one public hospital in Europe authorized. “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 smile splendid performance 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”.