CAMPOSAMPIERO (PADUA) – Two young patients – brother and sister – suffering from the same form of early-onset hereditary retinal dystrophy (serious neurodegenerative disease of genetic origin which, if not treated, is correlated to irreversible conditions of absolute blindness within a few years) underwent surgery on both eyes at the Pietro Cosma hospital in Camposampiero by a multidisciplinary team of specialists: the two young men have partially recovered their visual ability.
The genetic disease
Suffering from a very early onset degenerative genetic disease of the retina and destined to become completely blind, a 17-year-old boy and his 14-year-old sister were finally able to improve their progressively and severely deteriorating visual abilities since they were very young children. All this was made possible thanks to complex procedures intraocular gene therapy, performed through delicate microsurgical interventions able to guarantee the precise administration of a bio-engineered drug in the narrow sub-retinal spaces of just a few tenths of a millimeter. The interventions, which took place last December, were conducted by a multidisciplinary team from the Camposampiero hospital assisted by ophthalmologists from the University of Ferrara.
The cure
«This innovative treatment – explains Marco Tavolato, director of Ophthalmology in Camposampiero – allows to restore those cellular functions that the patients’ retina cannot perform due to serious biallelic mutations of the RPE65 gene which, if not corrected, progressively lead to irreversible damage to the retina resulting in total loss of vision within the first 20-30 years of life. Technically it is a genetically modified drug which contains a viral vector built in the laboratory to be able to transfer, within the not yet completely degenerated retinal cells, a healthy copy of the diseased gene which resumes normal function. In this way the fragment of DNA that codes for an enzymatic protein essential for vision is made available to the retinadefinitively correcting the genetic defect at the basis of the disease classifiable among the most aggressive forms of retinitis pigmentosa and otherwise incurable.
Many other types of retinitis pigmentosa, due to mutations in genes other than RPE65, are in any case very serious and disabling conditions, even if unfortunately they cannot be tackled yet. However, today for the first time, there is the possibility of offering some selected patients a finally effective treatment to prevent or correct vision loss, representing a fundamental step also for future gene therapies with drugs similar to the one now available, called voretigene neparvovec (trade name Luxturna) and authorized by the Italian Medicines Agency (AIFA) in 2021. Treatment with Luxturna, specifically dedicated to patients with retinitis pigmentosa related to the RPE65 gene, is a very complex and expensive surgical procedure and, also for this exclusively entrusted to a few centers of excellence in Italy and around the world».
«With the techniques already available today, Veneto healthcare plans its future. The news that reaches us from the Camposampiero hospital makes us proud and fills us with joy. I congratulate all the professionals who made this result possible – said the president of Veneto Luca Zaia – The success of the operation was possible thanks to complex intraocular gene therapy procedures with particular microsurgery techniques, conducted by a multidisciplinary team, which have made the administration of a bioengineered drug targeted and precise. The result, thanks to a recovery of cellular functions, has interrupted the spiral of an inevitable and serious deterioration that young people have suffered since childhood. It is not only an important milestone in healthcare but also a great message of hope».