An 8-year-old boy and a 3-year-old sister with the same form of hereditary retinal dystrophy regained their sight following gene therapy treatment.
The interventions were carried out in collaboration by the Ophthalmology units of the Agostino Gemelli IRCCS University Polyclinic Foundation and the Bambino Gesù Pediatric Hospital, as part of a project launched in 2021 for the joint management of pediatric and adult patients suffering from hereditary retinal degeneration.
The little girl who regained her sight is the youngest patient in Italy to have received this treatment.
The two children, taken care of by the Infant Jesus, were operated on at the Gemelli Polyclinic.
Today they distinguish details better and are able to move confidently in dimly lit environments, without fear of tripping over objects.
Hereditary retinal dystrophy is characterized by the mutation of both pairs of the Rpe65 gene, responsible for the production of a key protein in the process of converting light into an electrical signal in the retina.
The best known of the hereditary retinal dystrophies is retinitis pigmentosa (Rp) from which the two treated siblings were affected in the earliest form - Leber's congenital amaurosis.
In Italy, the affected subjects are between 100 and 120: patients have problems with poor night vision, narrowing of the visual field and can manifest a severe and progressive reduction of vision up to blindness.
The therapy for this rare disease, developed by Novartis, is called voretigene neparvovec (trade name Luxturna) and was authorized by the Italian Medicines Agency (Aifa) in 2021. It consists of a single injection - "one shot" - into the subretinal space of both eyes of a working copy of the Rpe65 gene.
The healthy gene is carried inside the cells by an associated adenovirus, with modified genetic heritage, which acts as a vector.
Once in the cells, the functioning copy of the gene is able to restore the patient's vision in a meaningful and lasting way.
"Gene therapy for inherited retinal degeneration - says Dr. Giancarlo Iarossi, referent of the path on retinal dystrophies within the
"Retinitis pigmentosa - says Professor Stanislao Rizzo, full professor of Ophthalmology at the Catholic University and director of the Ophthalmology Unit of the A. Gemelli IRCCS University Hospital - is a terrible disease that leads to blindness in the most severe forms and therefore does not there was an effective therapy until recently. Finally today, even if only in a few patients, we are able to offer an effective treatment, the result of international scientific studies carried out in very few research and treatment centers in the world ".