Dr. Alfonso Sabater marveled at two photos of Antonio Vento Carvajal’s eyes. One image displayed clouded scars that covered both of Antonio’s eyeballs, while the other, taken after months of groundbreaking gene therapy through specialized eyedrops, showed no signs of scarring whatsoever.
Antonio, a 14-year-old who had been legally blind for most of his life, was now able to see again.
Born with dystrophic epidermolysis bullosa, an exceedingly rare genetic condition that resulted in blisters all over his body and eyes, Antonio’s life changed when he became part of a clinical trial for the world’s first topical gene therapy, which had initially been designed for his skin condition. This success sparked an idea in Dr. Sabater’s mind: Could this therapy be adapted to treat Antonio’s eyes as well?
This remarkable insight not only transformed Antonio’s life but also opened the doors to potential therapies for millions of others suffering from various eye diseases, including more common ones.
Antonio’s mother, Yunielkys “Yuni” Carvajal, was moved to tears when she thought about what Dr. Sabater had done for her son. During a visit to the University of Miami Health System’s Bascom Palmer Eye Institute, she expressed her gratitude in Spanish, praising him not only as an excellent doctor but also as a compassionate and hopeful human being who never gave up.
The Carvajal family had immigrated to the U.S. from Cuba in 2012 on a special visa to seek treatment for Antonio’s condition, which affects only around 3,000 people worldwide. Despite undergoing surgeries to remove scar tissue from his eyes, it would inevitably return, causing Antonio’s vision to deteriorate to the point where he no longer felt safe walking around.
At that time, Dr. Sabater had no immediate answers but reassured the young boy that he would find a solution. Determined to help, Antonio responded with unwavering faith in his doctor, providing Dr. Sabater with the energy and motivation to persevere.
Eventually, Carvajal informed Dr. Sabater about an experimental gene therapy gel that had been effective in treating Antonio’s skin lesions. This revelation prompted Dr. Sabater to contact the drug manufacturer, Krystal Biotech, to explore the possibility of adapting the treatment for Antonio’s eyes.
Suma Krishnan, co-founder and president of research and development at Krystal Biotech, saw the potential in the idea and decided to give it a try.
Antonio’s condition was caused by mutations in a gene responsible for producing collagen 7, a protein that plays a crucial role in maintaining both skin and corneas. The treatment, known as Vyjuvek, involved using an inactivated herpes simplex virus to deliver functional copies of the gene via eyedrops. These eyedrops utilized the same liquid as the skin version, without the added gel.
Following extensive testing, including trials with mice, the team obtained “compassionate use” approval from the U.S. Food and Drug Administration, along with permission from university and hospital review boards. Last August, Antonio underwent surgery on his right eye, after which Dr. Sabater initiated the eyedrop treatment.
The progress was carefully monitored, and fortunately, Antonio’s eye recovered well from the surgery, with no recurrence of scarring. Month after month, his vision significantly improved. Recently, doctors measured his vision in the right eye at an almost perfect 20/25.
Building on this success, Dr. Sabater began treating Antonio’s left eye, which had even more scar tissue. Fortunately, it was also showing steady improvement, measuring close to 20/50—remarkable progress that offered significant hope for Antonio’s future.
Antonio now visits the eye institute for checkups nearly every week and receives the eyedrops once a month. Protective clothing is necessary during visits since his skin is incredibly fragile, earning him and others with the condition the nickname “butterfly children.”
In addition to the gene therapy eyedrops, Antonio still uses the skin gel, which received FDA approval in May and can also be used off-label on eyes. Unlike many gene therapies, this gel does not modify DNA, so it requires ongoing use.
As the director of the Corneal Innovation Lab at the eye institute, Dr. Sabater envisions a promising future for gene therapy eyedrops. By modifying the gene delivered by the virus, this approach could potentially treat various other eye diseases. For instance, a different gene could target Fuchs’ dystrophy, a condition affecting millions of people in the U.S., accounting for a significant number of corneal transplants.
Medical experts, such as Dr. Aimee Payne, a dermatology professor at the University of Pennsylvania, find this potential incredibly exciting. This form of gene therapy directly addresses the root cause of diseases, offering new hope for patients worldwide.
With his vision restored, Antonio can now indulge in a typical teenage pastime he had longed for—playing video games with his friends. Moreover, he can finally move around confidently, feeling safe in the world around him.
The two-year journey that Dr. Sabater and his team embarked upon to secure government and hospital approvals was undoubtedly worth it. Antonio’s transformation is a testament to the power of persistence and compassion, and it paves the way for potential treatments for countless others in the future.
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