Gene Therapy Eyedrops Revive a Young Boy’s Vision – A Beacon of Hope for Millions

Dr. Alfonso Sabater demonstrated the transformative power of gene therapy through two contrasting images of Antonio Vento Carvajal’s eyes. The initial image displayed an extensive cloud of scars over both eyes. In stark contrast, the subsequent image, captured after several months of administering gene therapy through eyedrops, revealed no evidence of scarring in either eye.

Antonio, who has spent a significant portion of his 14 years with legal blindness, can now see.

Antonio was diagnosed at birth with dystrophic epidermolysis bullosa, a rare genetic disorder that manifests as blisters on his body, including his eyes. His condition improved remarkably after participating in a clinical trial for the first-ever topical gene therapy. This improvement sparked an innovative idea in Sabater’s mind: could this treatment be adjusted to treat Antonio’s eyes?

This pioneering concept not only proved beneficial for Antonio but also paved the way for similar therapies, which could potentially help millions suffering from different eye diseases, even prevalent ones.

Antonio’s mother, Yunielkys “Yuni” Carvajal, could not contain her emotions while discussing Sabater’s efforts for her son.

“He has been with us every step of the way,” she expressed in Spanish during a visit to the University of Miami Health System’s Bascom Palmer Eye Institute. “He’s not just an excellent doctor, but also a compassionate human being who instilled hope in us. He never lost faith.”

The family moved from Cuba to the U.S. in 2012 with a special visa for Antonio’s medical treatment. His rare condition affects approximately 3,000 individuals globally. Despite several surgeries to remove scar tissue from his eyes, the scars reappeared, leading to deteriorating vision, making Antonio apprehensive about moving around.

Back then, Sabater did not have any immediate solutions. But he reassured Antonio, “I’ll find a solution. Just give me some time. I’m working on it.” Antonio’s unwavering trust fueled Sabater’s determination.

Carvajal informed Sabater about an experimental gene therapy gel treating Antonio’s skin lesions. He immediately reached out to Krystal Biotech, the pharmaceutical company behind the gel, to explore its adaptability for treating Antonio’s eyes.

Suma Krishnan, co-founder and president of research and development at Krystal Biotech, affirmed the proposal, stating, “it makes sense, and there’s no harm in trying.”

Antonio’s condition arises from mutations in a gene responsible for the production of collagen 7, a protein crucial for binding skin and corneas together. The treatment, Vyjuvek, uses an inactive herpes simplex virus to introduce functioning copies of the gene. The eyedrops possess the same therapeutic contents as the skin version, sans the added gel.

After two years of meticulous research, which involved drug testing on mice, the team received the green light from the U.S. Food and Drug Administration and the university and hospital review boards for “compassionate use”. Following this, Antonio underwent surgery on his right eye and began the eyedrop treatment.

Krishnan emphasized the team’s cautious approach, continually monitoring for any adverse effects.

Antonio’s right eye recovered post-surgery, the scarring didn’t recur, and there was significant improvement every month, as reported by Sabater. Recent tests revealed Antonio’s right eye vision to be almost flawless at 20/25.

Earlier this year, Antonio’s left eye, with more extensive scar tissue, started receiving the same treatment, showing a steady improvement, nearing 20/50, which Sabater describes as “quite good vision.”

The young boy visits the eye institute for nearly weekly checkups and monthly eyedrop treatments. Owing to his delicate skin, Antonio, like others suffering from his condition, known as “butterfly children,” wears protective clothing covering his entire body to prevent injuries from mere touch.

Despite FDA approval for the skin gel, it doesn’t alter the DNA, therefore necessitating ongoing treatment, unlike many gene therapies.

Sabater, leading the Corneal Innovation Lab at the eye institute, believes the gene therapy eyedrops may have broader applications by altering the gene carried by the virus. For instance, swapping the gene could potentially help treat Fuchs’ dystrophy, affecting 18 million Americans, accounting for nearly half of the country’s corneal transplants.

Dr. Aimee Payne, a dermatology professor at the University of Pennsylvania, uninvolved in the research, commends this therapeutic approach, citing it as “exciting” and one that directly targets the underlying cause of disease.

With restored vision, Antonio is enjoying a typical teenage hobby he longed for – playing video games with his friends. He also confidently navigates his surroundings now.

Reflecting on the two-year journey for obtaining governmental and hospital approvals, Sabater said it was worth the effort. Not only for Antonio but also for the future possibility of treating other patients.

This story was reported by Ungar from Louisville, Kentucky.

Support for the Big Big News Health and Science Department comes from the Howard Hughes Medical Institute’s Science and Educational Media Group. The content responsibility solely lies with AP.

Frequently Asked Questions (FAQs) about Gene Therapy Eyedrops

More about Gene Therapy Eyedrops

• Gene Therapy
• Dystrophic Epidermolysis Bullosa
• Krystal Biotech
• University of Miami Health System’s Bascom Palmer Eye Institute
• Fuchs’ Dystrophy