25 C

First-of-their-kind eye drops reverse blindness in teen



For the first time, a topical gene therapy — designed to heal the wounds of people with “butterfly skin disease” — has been used to restore a person’s vision, suggesting a new way to treat genetic disorders of the eye.

The challenge: Up to 125,000 people worldwide are living with dystrophic epidermolysis bullosa (DEB), an incurable genetic disorder that prevents the body from making collagen 7, a protein that helps strengthen the skin and other connective tissues.

Without collagen 7, the skin is incredibly fragile — the slightest friction can lead to the formation of blisters and scarring, most often in the hands and feet, but in severe cases, also the eyes, mouth, and throat.

This has earned DEB the nickname of “butterfly skin disease,” as people with it are said to have skin as delicate as a butterfly’s wings.

“It was like looking through thick fog.”

Antonio Vento Carvajal

The gene therapy: In May 2023, the FDA approved Vyjuvek, the first gene therapy to treat DEB. 

Vyjuvek uses an inactivated herpes simplex virus to deliver working copies of the gene for collagen 7 to the body’s cells. In small trials, 65% of DEB-caused wounds sprinkled with it healed completely, compared to just 26% of wounds treated with a placebo.

The patient: Antonio Vento Carvajal, a 14 year old living in Florida, was one of the trial participants to benefit from Vyjuvek, which was developed by Pittsburgh-based pharmaceutical company Krystal Biotech.

While the topical gene therapy could help his skin, though, it couldn’t do anything to address the severe vision loss Antonio experienced due to his DEB. He’d undergone multiple surgeries to have scar tissue removed from his eyes, but due to his condition, the blisters keep coming back.

“It was like looking through thick fog,” said Antonio, noting how his impaired vision made it hard for him to play his favorite video games. “I had to stand up from my chair, walk over, and get closer to the screen to be able to see.”

“I’ve seen the transformation in Antonio’s life.”

Alfonso Sabater

The idea: Encouraged by how Antonio’s skin wounds were responding to the gene therapy, Alfonso Sabater, his doctor at the Bascom Palmer Eye Institute, reached out to Krystal Biotech to see if they thought an alternative formula could potentially help treat his patient’s eyes. 

The company was eager to help, according to Sabater, and after about two years of safety and efficacy testing, he had permission, under the FDA’s compassionate use protocol, to treat Antonio’s eyes with a version of the topical gene therapy delivered as eye drops.

The results: In August 2022, Sabater once again removed scar tissue from Antonio’s right eye, but this time, he followed up the surgery by immediately applying eye drops containing the gene therapy.

The vision in Antonio’s eye steadily improved. By about eight months after the treatment, it was just slightly below average (20/25) and stayed that way. In March 2023, Sabater performed the same procedure on his young patient’s other eye, and the vision in it has also steadily improved. 

“I’ve seen the transformation in Antonio’s life,” said Sabater. “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.”

Looking ahead: The topical gene therapy isn’t a permanent fix — it doesn’t alter Antonio’s own genes, so he has to have the eye drops reapplied every month. Still, that’s far less invasive than having to undergo repeated surgeries.

“I would send this message to other families in similar situations: Don’t be afraid.”

Yunielkys “Yuni” Carvajal

Sabater is now working with Krystal Biotech to launch trials of the eye drops in other patients, and not just those with DEB. By changing the gene delivered by the therapy, he believes it could be used to treat other eye disorders that are far more common — Fuchs’ dystrophy, for example, affects the vision of an estimated 300 million people over the age of 30.

Antonio’s mother, Yunielkys “Yuni” Carvajal, meanwhile, has said that having her son be the first to receive the eye drops was “very scary,” but she’s hopeful others will take a chance on new gene therapies if given the opportunity.

“I would send this message to other families in similar situations, whether it’s DEB or another condition that can benefit from genetic therapy,” she said. “Don’t be afraid.”

We’d love to hear from you! If you have a comment about this article or if you have a tip for a future Freethink story, please email us at [email protected].

Source link

Subscribe to our magazine

━ more like this

World Cup 2023: Which record can Shaheen Afridi break during mega event?

Pakistan's ace fast bowler Shaheen Afridi could break another record during the ICC Men's World Cup 2023, slated to kick start on October...

Tammy Beaumont, Harry Brook named PCA Players of the Year

Beaumont, winner of the women's award in 2016, collected the accolade for a second time after a stellar summer in which she broke...

Hitler’s birth house will become a police station to keep neo-Nazis away

Comment on this storyCommentAustria has started work to turn the yellow-brick house where Adolf Hitler was born into a police station, in a...

Overheard on NBA media day: New-look Bucks, LeBron’s understudy and … a green alien?

The 2023-24 NBA season is just weeks away, and as the players and coaches prepare for training camp, our NBA insiders are breaking...

Liverpool predicted lineup vs Union Saint-Gilloise – Europa League

Jurgen Klopp will not be wanting his Liverpool players to dismiss or forget the injustice that occurred at Tottenham on Saturday, but to...