First-of-its-kind gene therapy restores vision in DEB patient

Human eye

A dystrophic epidermolysis bullosa (DEB) patient at the Bascom Palmer Eye Institute, University of Miami, US, has regained his vision after being the first person to receive a formulation of gene therapy Vyjuvek suitable for the eyes.

DEB is a rare genetic condition that makes the skin and mucous membranes so fragile that any friction or minor injury results in painful blisters.

Antonio Vento Carvajal had taken part in trials for Vyjuvek to treat his skin, but his vision was still deteriorating despite multiple surgeries to remove scar tissue obstructing the cornea.

Dr Alfonso Sabater, Associate Professor of Ophthalmology, Medical Director of Bascom Palmer’s Ocular Surface Program and Director of the Corneal Innovation Lab, approached manufacturer Krystal Biotech about creating a formulation of their gene therapy for the eyes.

After two years of testing the new eye drops for safety and efficacy, the US Food and Drug Administration (FDA) granted compassionate use approval. The FDA has since granted approval for Vyjuvek as a topical treatment for the skin, however, Antonio is the only patient to receive the formulation for the eyes.

“I’ve seen the transformation in Antonio’s life. 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 said. “This is a platform that can potentially treat diseases that have a genetic component.”

So far, ocular gene therapy has been limited to treatment in the back part of the eye, but this new formulation targets the cells in the ocular surface.

Sabater and Krystal Biotech are now working on a future clinical trial that would enrol additional patients to receive the same therapy.

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