Vision improves in 14-year-old with ‘butterfly skin’ following topical gene therapy

A US teenager with a rare genetic condition that results in skin blistering has seen improvement after off-label use of Vyjuvek

Unsplash/Warren Umoh

A US teenager has experienced improvements in his vision following treatment with an eye drop based on the topical gene therapy, Vyjuvek.

In May, the topical gel received approval from the US Food and Drug Administration for application on the skin of patients with dystrophic epidermolysis bullosa (DEB).

DEB, also known as ‘butterfly skin’, is a rare genetic condition that affects the skin and mucosal tissues – resulting in blisters from the slightest friction.

In July, the University of Miami Health System shared progress made by DEB patient, Antonio Vento, 14, following surgeries to remove scar tissue obstructing his cornea and application of eye drops using the same liquid as Vyjuvek, but without added gel.

Vento said that before the treatment his vision was like “looking through a thick fog.”

“For example, with Minecraft, when I needed the materials to build, I couldn’t see what I had to do. I had to stand up from my chair, walk over and get closer to the screen to be able to see,” he shared.

“Now, I don’t have to get up from my chair. I can see the numbers and letters, and I can make out the small items I want to use in Minecraft. My vision for distance is so much better,” Vento explained.

Dr Alfonso Sabater, of Bascom Palmer Eye Institute, originally contacted Krystal Biotech to see if Vyjuvek could be reformulated for use in the eyes.

He shared that he had witnessed a “transformation” in Vento following treatment.

“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,” Sabater shared.

In a release by Krystal Biotech at the time of the FDA approval, Dr Peter Marinkovich, of Stanford University School of Medicine, highlighted that Vyjuvek both heals patient wounds and prevents skin from re-blistering.

“Because it’s safe and easy to apply directly to wounds, it doesn't require a lot of supporting technology or specialised expertise,” he said.