Miami Teen with Rare Genetic Condition Sees Again After Topical Gene Therapy
July 24, 2023 | 8:20pm
By Caroline McCarthy
MIAMI — Dr. Alfonso Sabater has successfully restored the vision of 14-year-old Antonio Vento Carvajal, who has been legally blind for most of his life. Antonio was born with dystrophic epidermolysis bullosa, a rare genetic condition that causes blisters all over his body and in his eyes. However, after joining a clinical trial for the world’s first topical gene therapy, Antonio’s skin improved, leading Sabater to explore the same therapy for his eyes.
The success of Antonio’s treatment not only provides hope for him but also opens the door for potential treatments for millions of people with other eye diseases. Antonio’s mother, Yunielkys “Yuni” Carvajal, expressed her gratitude for Sabater, stating, “He’s been there through everything. He’s not only a good doctor but such a good human being and provided us with hope. He never gave up.”
Antonio’s journey began when his family immigrated to the U.S. from Cuba in 2012 to seek specialized treatment for his condition, which affects around 3,000 individuals worldwide. Various surgeries were performed to remove scar tissue from his eyes, but it continued to grow back, causing his vision to deteriorate further.
Despite initially having no answers, Sabater reassured Antonio that he would find a solution. Inspired by an experimental gene therapy gel for Antonio’s skin, Sabater contacted drugmaker Krystal Biotech to explore the possibility of adapting the treatment for Antonio’s eyes. Suma Krishnan, co-founder and president of research and development for the Pittsburgh-based company, saw the potential and agreed to give it a try.
The therapy, known as Vyjuvek, uses an inactivated herpes simplex virus to deliver working copies of the gene that produces collagen 7, a protein crucial for both skin and corneas. After two years of testing, the team received “compassionate use” approval from the US Food and Drug Administration, as well as permission from university and hospital review boards. In August of last year, Antonio underwent surgery on his right eye, followed by treatment with the gene therapy eyedrops.
After recovery, Antonio’s eye showed no scarring, and his vision significantly improved each month. Currently, his right eye measures a near-perfect 20/25, while his left eye, which had more scar tissue, measures close to 20/50. Antonio visits the eye institute for checkups almost weekly and receives the eyedrops once a month.
Dr. Sabater believes that gene therapy eyedrops could have potential applications for other eye conditions by modifying the gene delivered by the virus. This exciting possibility could revolutionize the treatment of diseases such as Fuchs’ dystrophy, which affects 18 million people in the U.S. and accounts for half of the nation’s corneal transplants, according to Dr. Aimee Payne, a dermatology professor at the University of Pennsylvania.
With his vision restored, Antonio is now able to participate in activities he has longed to do, such as playing video games with his friends. He also feels safe walking around, something he couldn’t do before. Dr. Sabater believes that the two-year journey for government and hospital approvals was worth it, not only for Antonio but also because it paves the way for future treatments for other patients.
As this groundbreaking gene therapy continues to show promise, the medical community is optimistic about the potential to revolutionize the treatment of various eye diseases and provide hope to millions of people worldwide.