Innovative eye drops cost R$3 million a year and are used to restore vision to young people with rare diseases
O Fantastic This Sunday (17) shows the story of Anthonya young Cuban man with a rare genetic disorder who regained his vision after using genetic eye drops designed specifically for him.
Antonio has been treated for this disease in Miami, USA, since he was four years old. In 2017, at the age of eight, he began treatment by Spanish ophthalmologist Alfonso Sabater, who spoke to Fantástico about the innovative treatment method.
“His body was practically covered. He had ulcers all over his skin, on his face, on his arms,” the doctor remembers.
Overall, it is estimated that 500,000 people worldwide suffer from the diseasebut only in more severe cases is vision impaired.
In the first attempt to treat his eyes, the doctor performed surgery to remove the scars that covered Antônio’s cornea and prevented him from seeing. However, two months later they returned.
It took years to find a solution until the mother informed them that the young man was receiving genetic treatment for his skin. “I thought: This could be the solution for his eyes,” says the doctor.
As a result, the skin medicine was adapted for use as an eye drop. It took more than a year for US regulators to approve the exclusive experimental treatment for Antonio. And the costs are very high: approx R$3 million per yearbut the manufacturer provided the drug to the boy free of charge.
The application began on Antonio’s right eye, after further surgery to remove the scars. The result was considered incredible.
Genetic medicine contains a virus that is deactivated and applied to the eyes. He inserts a protein called collagen seven into the corneal cells, which Antonio’s body doesn’t make itself.
The therapy gives the cell genetic instructions to produce the protein that the patient is not producing. But when that cell dies, another one is born and the treatment has to be done again. That’s why Antonio has to go to the hospital every week to get eye drops.
“He sees perfectly well. If he could walk and use his hands, he could get his driver’s license here in Florida with his vision,” Sabater said.
The doctor believes the experience may be the basis for developing similar therapies for other genetic diseases that affect vision, such as Fuchs’ dystrophy, a genetic disease that affects the cornea and accounts for 50% of corneal transplants in the USA is responsible.
“It’s a big change. Almost perfect visibility, it’s impressive. The treatment was a success and the left eye is also improving. When I played Minecraft and had to find materials to build buildings, I couldn’t see anything. I had to get closer.” “Now I can see small objects,” says Antonio happily.
As for the further development of the treatment, the medical team also welcomes the possibility of reproducing it in patients with the same disease. “There is hope. Until a few years ago it sounded like science fiction when people talked about gene therapy, but the drug has been invented and we are treating Antonio,” concludes the ophthalmologist.
Listen to Fantástico podcasts: