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16 December 2019Two small patients of eight and nine years suffering from a particular form of hereditary retinal dystrophy that made them visually impaired from birth recovered their sight thanks to an innovative technique performed for the first time in Italy in the Eye Clinic of the University of Campania 'Luigi Vanvitelli' in collaboration with Novartis. The disease is caused by mutations in a gene called RP65 and the therapy provides a functioning copy of this gene that can, through a single administration, improve vision.

Simonelli: "Care born in Naples"
"We are very happy with this result achieved for the first time in Italy thanks to which we have treated two small patients with an innovative therapy that was born in Naples 12 years ago in collaboration with the Telethon Foundation and the Children's Hospital of Philadelphia" . This is how Francesca Simonelli, director of the Eye Clinic of the 'Luigi Vanvitelli University of Naples, in reference to the first gene therapy performed in Italy at the Policlinico Vanvitelli in collaboration with Novartis, thanks to which two Apulian children suffering from hereditary retinal dystrophy have recovered sight.

The intervention on the first child was performed last November 27th and - underlined Simonelli - "after 10 days we already see extraordinary improvements in vision. Gene therapy - he added - consists in correcting the genetic defect, which is the basis of the disease, replacing the sick gene with a normal copy of the gene ''. The therapy is performed with surgery by injecting the drug directly into the retina. According to the numbers reported by Simonelli, in Italy there are between 40 and 50 cases of hereditary retinal dystrophy.

"It is a rare disease - he concluded - and we imagine that in the coming months and years we will be able to treat them all. We are facing a real paradigm shift because until now we had no therapies for the treatment of hereditary retinal dystrophies but, thanks to the progress made in recent years and that we continue to obtain in the clinical, genetic and technological fields, we can only hope that today's result is only the first of a long and future series ". The drug, reportedly approved at European level it is awaiting AIFA approval.