In Miami, Dr. Alfonso Sabater displayed two images of Antonio Vento Carvajal’s eyes. In the first photo, both eyeballs were covered with cloudy scars, a result of his rare genetic condition called dystrophic epidermolysis bullosa, which had left him legally blind since birth. However, in the second photo, taken after several months of receiving gene therapy through eyedrops, there was no sign of scarring in either eye.
This groundbreaking gene therapy had been initially tested to improve the condition of Antonio’s skin, plagued by blisters due to the same genetic disorder. Witnessing its success on his skin inspired Dr. Sabater to explore the possibility of adapting the therapy for Antonio’s eyes, and the results were remarkable. The once visually impaired teenager could now see again thanks to this innovative topical gene therapy.
Not only did Dr. Alfonso Sabater’s breakthrough therapy restore Antonio’s vision, but it also opened up new possibilities for treating numerous other eye diseases, including common ones, potentially benefiting millions of people worldwide.
During a visit to the University of Miami Health System’s Bascom Palmer Eye Institute, Antonio’s mother, Yunielkys “Yuni” Carvajal, became emotional while expressing her gratitude for what Dr. Sabater had done for her son. She spoke in Spanish, praising him not only as a skilled doctor but also as a compassionate and hopeful human being who never gave up on finding a solution.
The Carvajal family had immigrated to the U.S. from Cuba in 2012, thanks to a special visa that allowed Antonio to receive treatment for his condition, which affected a relatively small number of individuals globally—around 3,000 people. Despite undergoing surgeries to remove scar tissue from his eyes, the condition persisted, and Antonio’s vision continued to deteriorate to the point where he no longer felt safe moving around independently.
During this challenging period, Dr. Sabater had no immediate answers but reassured the boy and his family that he was determined to find a solution. He remained committed to his promise, working tirelessly on his innovative gene therapy, which eventually proved successful in restoring Antonio’s sight and providing hope for a brighter future.
Dr. Sabater remembered Antonio’s unwavering faith in him, saying, “‘Yeah, I know you’re going to do it.'” This encouragement served as a powerful source of motivation for the determined doctor to continue his efforts.
During their discussions, Carvajal informed Dr. Sabater about an experimental gene therapy gel that had been used for treating Antonio’s skin lesions. Curious if it could be adapted for the eyes, Dr. Sabater reached out to Krystal Biotech, the pharmaceutical company behind the experimental treatment.
Suma Krishnan, co-founder and president of research and development at Krystal Biotech, found the idea plausible, and the team decided it was worth trying. Antonio’s condition was caused by genetic mutations affecting collagen 7, a protein responsible for maintaining both the skin and corneas. The new treatment, called Vyjuvek, involved using an inactivated herpes simplex virus to deliver functional copies of the affected gene. For the eye treatment, they used the same liquid as in the skin version but without the added gel.
The journey to this point took two years, including extensive testing in mice. To proceed, they obtained “compassionate use” approval from the U.S. Food and Drug Administration and received permissions from university and hospital review boards. In August of the previous year, Antonio underwent surgery on his right eye, after which Dr. Sabater initiated the treatment using the specially formulated eyedrops.
Krishnan emphasized that they proceeded with caution, continuously monitoring the treatment’s safety and efficacy throughout the process.
Following the successful surgery, Antonio’s right eye showed remarkable progress with no scarring recurrence, and his vision improved significantly, measuring at an impressive 20/25. Subsequently, Dr. Sabater initiated treatment on Antonio’s left eye, which had even more scar tissue. The progress was steady, with the vision in his left eye measuring close to 20/50, a substantial improvement that Sabater described as “pretty good vision.”
Antonio’s dedication to his treatment is evident as he visits the eye institute almost weekly for checkups and receives the gene therapy eyedrops once a month. However, due to the fragility of his skin, a result of his condition, he must wear protective clothing during these visits to prevent any accidental injuries.
While Antonio continues to use the FDA-approved skin gel, the gene therapy eyedrops offer a promising option for treating various eye diseases beyond his specific condition. The eyedrops, unlike other gene therapies, do not modify DNA and can be used repeatedly.
Dr. Sabater, the director of the Corneal Innovation Lab at the eye institute, envisions the potential of this approach for treating other diseases. By altering the gene delivered by the virus, they could address different conditions. For instance, a different gene could be targeted to treat Fuchs’ dystrophy, a condition affecting a large number of people in the U.S. and being a major cause of corneal transplants.
The potential of gene therapy eyedrops for treating various conditions is met with excitement by experts like Dr. Aimee Payne, a dermatology professor at the University of Pennsylvania, who emphasizes the significance of this approach in targeting the root cause of diseases.
With his vision fully restored, Antonio has been able to indulge in a typical teenage pastime that he had yearned for – playing video games with his friends. Moreover, he now feels safe and confident walking around independently, a simple pleasure that was once out of reach for him.
For Dr. Sabater, the two-year-long journey of seeking government and hospital approvals for the groundbreaking gene therapy was undoubtedly worth it. The success of the treatment not only brought immeasurable joy to Antonio and his family but also holds the promise of helping countless other patients in the future. Dr. Sabater expressed his belief in the vast potential of this therapy, which could pave the way for innovative treatments for a wide range of eye diseases and beyond.
The touching story of Antonio’s recovery is a testament to the power of determination, hope, and groundbreaking medical advancements. It serves as an inspiring example of how cutting-edge research and compassionate care can change lives, offering new possibilities and renewed hope for those facing challenging medical conditions.