conferenza stampa

Child with very rare disease receives gene therapy never before used in Italy

Outstanding result thanks to teamwork between Umberto I General Hospital and Sapienza. The treatment, approved by the EMA for AADC deficiency, was infused directly into the brain in a neurosurgical procedure that lasted over 8 hours. The exceptional result will be presented at a press conference on June 27

Last March, the story of a child suffering from the ultra-rare AADC deficiency hit the headlines after his parents wrote a heartfelt letter to the Italian government asking for help so that their son could receive the urgently needed therapy that other children had already received in France and Germany. The child was the only one of 16 Italian patients eligible to receive the innovative gene therapy capable of changing the natural course of his disease.

Although authorised at the European level, the therapy had not yet finished its regulatory process in Italy; that is why the family had to wait for a year, an enormous amount of time when facing a degenerative disease.  The family's appeal was promptly accepted by the institutions, and in May the child underwent an operation at the Policlinico Umberto I General Hospital in Rome, the only Italian centre equipped and authorised for the delicate procedure involving the infusion of the therapy directly into the brain.

Watch the press conference (in Italian)


Tuesday, 27 June 2023

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