Gene therapy to ‘save’ the sight of those suffering from retinitis pigmentosa also arrives in Tuscany. After the first experiments at the Eye Clinic of the Vanvitelli University of Naples, in fact, recently the Careggi University Hospital of Florence was able to carry out the first treatment on a 19-year-old young man.
First region of central Italy
Tuscany is the region with the largest number of structures present in the Ern networks, European networks of centers of excellence for rare diseases, which also includes the Careggi Ophthalmology structure (Ern-Eye), a regional coordination center for eye diseases in the regional network of rare diseases. The Careggi University Hospital in Florence is the only one in Tuscany and among the first in Italy to provide gene therapy to save sight in a rare form of retinitis pigmentosa, which until now was the cause of progressive blindness.
First gene therapy in Italy: two visually impaired children recover their sight
by IRMA D’ARIA
Gene therapy
The innovative drug was administered into the retina of the first patient, a young man with a mutation of the Rpe 65 gene, with a microsurgery performed by Professor Fabrizio Giansanti, director of Careggi Ophthalmology. “The therapy – explains Giansanti – consists in injecting the drug Voretigene Neparvovec under the retina, in the deepest part of the eye, with a sophisticated microsurgical technique to bring, through a harmless viral vector, the missing gene in the retinal cells. The therapy makes it possible to restore those biological functions of the cells that the patient’s genetic heritage is no longer able to perform due to the disease “. After the first cases performed at the eye clinic of the Vanvitelli University of Naples on children, Careggi’s case is the first on an adult patient: “Until last year – continues Giansanti – there was no therapy for this disease; the possibility of resorting to genetic testing made it possible to administer the therapy also in adults who had received the clinical diagnosis for a long time but did not have the possibility of being treated “.
A result that was possible – adds Giansanti – thanks to the considerable experience of the Regional Reference Center for Hereditary Retinal Degenerations coordinated by Andrea Sodi, in collaboration with the Genetic Diagnosis Laboratory, directed by Elisabetta Pelo.
Blind for 40 years, he has returned to see partially thanks to light and gene therapy
by Irma D’Aria
A therapy management team
The drug requires careful management because it must be stored in vials at minus 65 degrees and the administration must be performed within 4 hours of thawing. “The pharmacy and the department – he says Michele Cecchi, director of the Careggi Pharmacy – shared a procedure that makes it possible to respect the defrosting time, which is approximately 45 minutes, away from sources of heat and light. Immediately after, an aseptic procedure is performed, for the dilution and preparation of a syringe loaded with the drug, which is immediately sent to the operating room for administration “.
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2-step intervention
As often happens when you have a visual impairment, retinitis pigmentosa can have a very strong impact on people’s social and professional life. For the young patient, therefore, this intervention has enormous value: “Before the intervention – explains Giansanti – the patient had a severe visual field deficit because this disease affects the retinal cells responsible for peripheral vision and progressively ends up involving the central”. Now the post-operative course proceeds regularly. “We intervened on the first eye and yesterday the intervention on the second was carried out. The procedure, in fact, provides that the therapy in the two eyes is carried out within 15 days of distance. Patients treated with this therapy included in the approval studies and followed for some years, showed an improvement in their visual abilities in orientation and mobility especially in the darkest hours of light, however to understand what improvements will be appreciable by the patient treated at the after this therapy, our center will have to wait a few more weeks ”concludes Giansanti.
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Social solidarity to guarantee innovation
The total cost of the two doses necessary for the treatment of both eyes was around 600 thousand euros. “Despite the pandemic still underway, Tuscan healthcare has continued to respond to the health demand of citizens even in the rarest and most complex pathologies, confirming the excellence of our companies and our professionals in terms of quality of care and ability to innovation – comments the president of the Region, Eugenio Giani -. The regional economic investment to provide innovative drugs – he continues – is not only an expression of the feeling of social solidarity at the base of our universal health system, but a fundamental commitment to promote research and innovation in the most promising areas of medicine, to guarantee to Tuscan citizens a future of welfare at the highest levels of the most advanced regions of Europe “.
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