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Gene Therapy Restores Sight in a Pediatric Patient with DEB
After two surgical treatments, gene therapy restored sight in a 14-year-old boy with severe vision loss from DEB.
Alfonso Sabater, MD, PhD, played a significant role in restoring the vision of 14-year-old Antonio Vento, a dystrophic epidermolysis bullosa (DEB) patient. Alongside two surgical procedures, a recently approved topical gene therapy, VYJUVEK, assisted in recovering the patient’s sight.
DEB is a genetic condition that weakens a patient’s skin and mucous membranes, causing it to be sensitive to friction and minor injuries. Often this results in blisters all over the body. Researchers believe that the condition is caused by mutations in the COL7A1 gene, which — when functioning correctly — produces collagen that strengthens skin layers.
Across the 3.3 million people with DEB globally, mild versions of the disease may be restricted to blisters on the hands, feet, knees, and elbows. For some patients, like Vento, the disease can be so severe that it affects the eyes and results in vision loss.
Although this patient had two surgical procedures in 2016 and 2017 to remove scar tissue caused by DEB, the relief from these procedures was short-lived, as the blisters returned.
Attempting to find a more permanent solution, Sabater, an ophthalmologist at the University of Miami Health System Bascom Palmer Eye Institute, associate professor of ophthalmology and medical director of the Bascom Palmer Ocular Surface Program, and director of the Corneal Innovation Lab, collaborated with Krystal Biotech to reformulate VYJUVEK — which was still in clinical trials at the time — as an ocular solution.
VYJUVEK is a topical gene therapy derived from a genetically modified herpes simplex virus (HSV). The viral vector delivers functional copies of the COL7A1 gene to a patient’s wounds. With functioning gene versions, the patient can produce COL7 to help strengthen the skin and heal wounds. The standard formulation of the drug is a topical gel a healthcare professional applies once weekly.
While VYJUVEK was not fully approved by the United States Food and Drug Administration (FDA) until May 19, 2023, Sabater and Krystal Biotech worked together for two years to test the safety and efficacy of an ocular formulation. Before the medication’s full approval, the FDA granted compassionate use approval for Vento.
In August 2022, Sabater performed a third surgical procedure on Vento to remove more scar tissue. After the surgery, the provider began applying VYJUVEK on the patient's cornea. Over time, with the help of VYJUVEK, Vento’s vision significantly improved.
“I’ve seen the transformation in Antonio’s life,” Sabater told the InventUM. “He’s always been a happy kid. Now he’s very happy. He can function pretty much normally. He can read; he can study –– he can play video games.”
“This is a platform that can potentially treat diseases that have a genetic component,” he added.
