A 14-year-old boy has almost completely recovered his vision thanks to the application of the first gene therapy to a minor at the Bascom Palmer Eye Institute in Miami (Florida), considered the best eye hospital in the United States.
Antonio Vento has suffered from a strange disease known as dystrophic epidermolysis bullosa since birth.
It is a rare disorder that only affects half a million people worldwide and, in Vento's case, not only affected his skin with the formation of “scar tissue”, but also his eyes, Antonio explained. Sabater, the eye surgeon at Bascom Palmer Eye responsible for the boy's therapy.
The doctors of the aforementioned hospital, dependent on the Health System of the University of Miami (UM) and the Miller School of Medicine, came to perform two eye surgeries in time, but after three or four months the scar tissue reproduced again. due to the lack of collagen production.
“After the second surgery we decided not to operate on him again, to wait for another option for Antonio to emerge,” Sabater continued.. This opportunity began to materialize when they learned that the topical treatment applied to the skin was working very well.
The Associate Professor of Ophthalmology's team immediately contacted Krystal Biotech, the company that develops these advanced topical gene therapy treatments, and began complex laboratory tests on the formulation.
In 2022, after obtaining satisfactory results and getting the US Food and Drug Administration (FDA) to approve the use of this treatment for the specific case of Vento, the clinic made the decision to apply the first therapy to the boy from the formulation used on your skin.
Almost complete recovery of vision
The first treatment was applied to his right eye.. Experts removed scar tissues. “The recovery was slow, but after 5 or 6 months his vision began to improve and, at 8 months, his vision was almost perfect,” to the point, Sabater told EFE, that “he has recovered 95-100% of vision in that eye”.
The results of the solution in the left eye, since he had already undergone two interventions, were not as spectacular, but Vento has recovered 50-60% of his vision so far.
“It's been a two-year job. Antonio is recovering very well and we are very happy to see that he has recovered his sense of sight,” he said.
Despite the fact that the results are preliminary, Sabater said excitedly in the videoconference that Vento's case “is the first and opens up new possibilities in the future for the treatment of this disease and other types of genetic eye conditions that affect the cornea” .
Yuri, Vento's mother, said in the videoconference that she always had full confidence in the work of Professor Sabater, in the ability of the clinic and his team to restore her son's sight.
“There was a moment, in 2017, when my son couldn't walk, he lost his balance. And he only recognized us by voice. It has been a true miracle that my son sees the face of his family again and plays again”, Yuri expressed with emotion.