From Braille to pen and paper: for ten children a new adventure has begun to discover life that they can now finally see in all its colors because they have regained their sight thanks to the first gene therapy, voretigene neparvovec, for hereditary retinal dystrophies carried out at the ” Hospital of the Vanvitelli University of Naples. A success that confirms the excellence of Italian healthcare in the capacity of vision, scientific research and clinical practice and which makes Naples a national reference point for the treatment of rare diseases of the retina. Not only that, it shows the effectiveness and value of the collaboration between public and private in guaranteeing access to the most innovative therapies to patients who until recently had no possibility of treatment.
Retinitis pigmentosa, the expert: “Do the test to see if gene therapy is indicated”
From central-northern Italy to Naples
The ten children come from different regions of central and northern Italy and have regained their sight thanks to the voretigene neparvovec therapy by Novartis, approved and reimbursed in Italy, for a rare form of hereditary retinal dystrophy, the one linked to mutations in both copies of the gene RPE65, which saw its debut, about 15 years ago, with a phase I trial carried out thanks to the collaboration between the Vanvitelli University, the Telethon Foundation and the Children Hospital of Philadelphia.
Dystrophies of the retina, thanks to gene therapy 12 children will see again
by Irma D’Aria
Back to life
“The ten patients treated today can write, read and move independently. The results we have obtained – enlargement of the visual field, increase of vision at near, far and in low light conditions – therefore have a profound scientific and clinical value as well as testifying that, in a degenerative pathology, the path of early treatment is the winner, ”he stated Francesca Simonelli, Professor of Ophthalmology and Director of the Ophthalmology Clinic of the University of Campania Luigi Vanvitelli. “Furthermore, in 2019, authorized by Aifa, we treated the first two children in Italy, and today, almost 2 years after the therapy, we can confirm the absolute stability of the results obtained and a good safety profile. Data that make us confident that what we have achieved in terms of vision will last in the long term ”.
Retinitis pigmentosa: first 19-year-old patient treated with gene therapy in Careggi
by Irma D’Aria
Specialized team and organization
Important results resulting from years of research in the clinical, genetic and technological fields and which show revolutionary perspectives in the treatment of disabling diseases such as hereditary retinal dystrophies. However, treating a patient with hereditary retinal dystrophy with gene therapy requires an extremely complex clinical staff and patient preparatory process and administration process that requires lengthy preparation. The Eye Clinic of the Vanvitelli University of Naples is the first center in Italy to be certified for the administration of gene therapy, an articulated process that involves a highly specialized and adequately trained team composed of clinicians, doctors, surgeons, hospital pharmacists, nurses and technicians who collaborate in synergy during the intervention. “We are particularly excited that our Center, which in Europe has the largest number of pediatric patients treated with this therapy, will be able to write this new page of Medicine together with the Campania Region – commented Simonelli. Until the beginning of the year we had no approved therapies for the treatment of hereditary retinal dystrophies, while now we have a one-off therapy available that allows us to offer real hope to patients and their families ”.