In a pioneering medical breakthrough, a 14-year-old who was once legally blind can now apparently see.
Antonio Vento Carvajal reportedly now has near-perfect vision thanks to an innovative gene therapy delivered through eyedrops at the University of Miami Health System’s Bascom Palmer Eye Institute.
Dr. Alfonso Sabater, a surgeon-scientist and associate professor of clinical ophthalmology at Bascom Palmer, first met Carvajal and his family when they immigrated to the U.S. from Cuba in 2012.
The family received a special visa allowing them to stay in the country while Carvajal received treatment for a rare genetic condition that impacted his eyesight.
Carvajal was born with dystrophic epidermolysis bullosa, which causes the skin to be extremely fragile and blister easily. These blisters can be debilitating and cause widespread scarring over time.
According to Medline Plus, some sufferers of this condition have mild cases in which the blistering is limited to the hands, feet, knees, or elbows. Others, like Carvajal, can have severe cases in which the blistering occurs throughout the body, including the eyes.
Researchers have discovered that this disease is caused by a mutation of the COL7A1 gene, which tells the body how to produce type VII collagen — a protein that strengthens and stabilizes the layers of the skin.
The extent to which the production of type VII collagen is disturbed by the mutation determines the severity of dystrophic epidermolysis bullosa.
Carvajal is one of approximately 3,000 people affected by this genetic condition globally.
Despite having surgery to remove the scar tissue from his eyes, it grew back, and Carvajal’s vision continued to worsen.
“I’ll find a solution. I just need some time. I’m working on it,” Dr. Sabater recalled telling Carvajal, according to WFAA.
Then Carvajal joined Krystal Biotech’s clinical trial for its pioneering topical gene therapy, Vyjuvek.
This topical gel uses an inactive herpes simplex virus to deliver functioning copies of the defective COL7A1 gene. It differs from most gene therapies in that it must be continuously administered because it does not modify the body’s DNA.
When Dr. Sabater saw how well Carvajal’s skin responded to this treatment, he wondered how the gel might be adapted to help his eyes.
Dr. Sabater contacted the Pittsburgh-based drug manufacturer to see if Vyjuvek could be fashioned into eye drops.
In response, Suma Krishnan, Krystal Biotech’s co-founder and president of research and development, decided “it didn’t hurt to try it,” according to WFAA.
The team developed an eyedrop solution using the same liquid component as Vyjuvek and performed a series of tests on mice.
After two years, the team got “compassionate use” approval from the U.S. Food and Drug Administration and permission from the University of Miami Health System.
Last August, Dr. Sabater began administering the eyedrops to Carvajal’s right eye shortly after he had another surgery to remove the scar tissue. After seeing favorable results, he began administering the drug to the teenager’s left eye earlier this year.
The life-altering treatment has cleared the cloudy scars from Carvajal’s eyes, and he can now see 20/25 from his right eye and 20/50 from his left eye.
The gene therapy’s success has also paved the way for similar treatments that could benefit millions suffering from a range of eye diseases. Some serious eye conditions, including diabetic retinopathy, glaucoma, thyroid-related eye diseases, stroke-related vision loss, and age-related macular degeneration, are strongly correlated to obesity — an ongoing public health crisis in the U.S.
Vyjuvek received FDA approval in May, and its off-label use on the eyes is permitted.
Although Carvajal has to wear protective clothing and visit Bascom Palmer nearly once a week, his quality of life has vastly improved.
Yunielkys “Yuni” Carvajal, Antonio’s mother, expressed immense gratitude towards Dr. Sabater.
“He’s not only a good doctor but such a good human being and provided us with hope. He never gave up,” she told WFAA.