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Gene Therapy Eyedrops Restore Boy's Sight

14-Year-Old boy's vision is now approaching 20/20

A new medical treatment has restored the vision of a 14-year-old boy.

Antonio Vento Carvajal was born with a rare genetic condition called dystrophic epidermolysis bullosa, which causes blisters all over his body and in his eyes. His family moved in 2012 from Cuba to the U.S. to get treatment for the condition.

Despite multiple surgeries to remove the scar tissue, his vision continued to get worse. Dr. Alfonso Sabater, who had been treating Carvajal, told the boy, “I’ll find a solution. I just need some time. I’m working on it,” the Associated Press reported.

Sabater says he recalled Carvajal saying, “‘Yeah, I know you’re going to do it.’ That gave me the energy to continue.”

After Carvajal told the doctor about an experimental gene therapy gel for his skin lesions, the doctor contacted the drugmaker to see if it could be reformulated for the boy’s eyes, according to the AP.

As the AP reported:

Antonio’s condition is caused by mutations in a gene that helps produce a protein called collagen 7, which holds together both skin and corneas. The treatment, called Vyjuvek, uses an inactivated herpes simplex virus to deliver working copies of that gene. The eyedrops use the same liquid as the skin version, just without the added gel.

After two years, which included testing the drug in mice, the team got “compassionate use” approval from the U.S. Food and Drug Administration (FDA) and permission from university and hospital review boards. Last August, Antonio had surgery on his right eye, after which Sabater started treating him with the eyedrops.

Following the surgery, the scarring did not return. Now, the boy’s eye is measuring at a near perfect 20/25.

After Sabater began treating his other eye this year, it is also showing improvement, measuring about 20/50.

The FDA has a long list of approved cellular and gene therapy products on its website.

Scientists have worked for years on gene therapy treatments, with some used to treat brain disorders being delivered through eye drops.

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