The event is now the first gene therapy in Greece, which was performed on a 44-year-old patient with severe vision loss due to a rare hereditary disease, retinitis pigmentosa, on Thursday, September 15, 2022, at the First University Ophthalmology Clinic of the GNA Athens “G. Gennimatas” by the Ophthalmology professor of EKPA, Ilias Georgala and his colleagues.
The 1st University Ophthalmology Clinic of GNA Athens “Gennimatas” is the only certified center in Greece for the administration of gene therapy for ophthalmological diseases and the 10th in all of Europe.
As stated in an interview with the Athens News Agency by Professor Ilias Georgalas, (who speaks for the first time to the media) this treatment is the first available gene therapy in the world for patients with severe vision loss due to retinitis pigmentosa or congenital darkening Leber, which is also a rare hereditary disease.
In fact, as he explains, after 15 days the operation is also performed on the second affected eye. However, it is not indicated, Mr. Georgalas clarifies, for all patients with these two diseases, but only for those who carry a specific mutation. And for this very reason, genetic testing is required, for the suitability of the candidates who will receive the treatment.
Professor Ilias Georgalas
“Genetic testing allows us to determine the gene responsible for the disease and to provide genetic counseling, now knowing whether each patient is suitable for gene therapy,” noted the professor.
Severe vision loss in the final stages
But what exactly is macular retinopathy? It is the most common inherited retinal rod-cone dystrophy, with a prevalence of 1:5,000, answers Ilias Georgalas. To then point out that the age of onset, the type of inheritance, the rate of deterioration and the eventual loss of vision vary greatly from patient to patient.
“The main symptoms include difficulty with night vision (nyctalopia) and difficulty adapting to the dark, reduced peripheral vision, while in the final stages the patients’ central vision is also affected. Visual acuity may be normal, especially in the early stages of the disease with visual fields reflecting loss of peripheral vision. However, in the correct diagnosis of the disease, specialized tests, such as the electroretinogram, help” he emphasizes.
Slowing down of the disease, but also partial restoration of vision
Gene therapy, according to the professor, is administered to both adult and pediatric patients with these two conditions. “The drug consists of a non-pathogenic virus, which is designed to help specific cells in the retina of the eye to produce the protein they are missing and work better, slowing the progression of the disease. However, this gene therapy can also partially restore vision.
The results of clinical studies have shown that patients show improvement when walking in a dark room, in which there are obstacles, and there can also be an improvement in visual acuity, making them functional again in their daily life.” Impressive is the way the medicine is administered, which is done in the operating room.
As Mr. Georgalas explains, “the non-pathogenic virus is injected under the retina of the eye, with a very fine needle, after the surgeon has first removed the vitreous. In this way the treatment is administered in the area exactly where we want it to act. The successful administration of this complex and expensive drug requires specific logistical equipment, specialized personnel and ophthalmic surgeons.”
Until today, the patients were leaving outside of Greece
It is noteworthy that until today patients with hereditary dystrophies did not have the possibility to receive their treatment within Greece and were obliged to proceed through cross-border healthcare in one of the 9 European countries that have a certified treatment center (Germany, Spain, England, Italy, France, Austria, Holland).
This meant more suffering for the patient and at the same time a greater financial burden for him and for the state. Now these patients will be able to receive their treatment in our country, says Mr. Georgalas, pointing out that Greece and specifically the First University Ophthalmology Clinic of Athens are making their entrance to the new treatments, filling patients with rare diseases with hope.
“The team of the First University Ophthalmology Clinic of EKPA in collaboration with the pharmacy of GNA “G. Births” are helpers in innovative treatments for rare retinal diseases,” he emphasizes.
It is worth noting that this treatment is the only treatment approved by the US Food and Drug Administration (FDA) and the European Medicines Agency (EMA) for retinitis pigmentosa. Its cost amounts to 350,000 euros for each eye, an amount that is fully covered by EOPYY, after approval of the treatment through the Electronic Pre-Approval System (EPS) and the competent committees, according to Professor Ilias Georgala.
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