14-year-old Antonio Vento was born with the rare genetic condition dystrophic epidermolysis bullosa (DEB). The condition that makes skin and mucous membranes extremely fragile and causes painful blisters, is so severe in Antonio that it caused scarring to obstruct his cornea, resulting in vision loss.
Antonio, whose family who were granted a humanitarian visa from Cuba, has received care for his vision from UHealth’s Bascom Palmer Eye Institute and the Institute’s Associate Professor of Ophthalmology, Dr. Alfonso Sabater for the past 10 years.
Dr. Sabater previously carried out two surgeries on Antonio’s left eye in 2016 and 2017 to clear scar tissue. The removal of scar tissue provided short-term vision improvements, however, due to the genetic nature of his condition, the blisters and scar tissue returned.
The genetic mutation of DEB prevents patients from being able to produce the necessary collagen to prevent such wounds.
Dr. Alfonso Sabater first learned about an investigational gene therapy in clinical trials to treat the skin wounds of patients with DEB, led by Krystal Biotech, two years ago.
After reaching out the Company agreed to develop an alternative formulation of the therapy suitable for use in the eye. The formulated eye drops promote the production of Collagen 7, the protein that Antonio cannot synthesize.
Two years of clinical testing for safety and efficacy followed before the FDA granted compassionate use approval specifically for Antonio, and the topical treatment was applied following an operation to remove scar tissue in Antonio’s right eye, in 2022.
Dr. Sabater and Bascom Palmer have announced positive results following Antonio’s treatment, reporting a slow and steady improvement of vision in his right eye to an amazing 20/25, which has since remained stable.
Based of the results, Dr. Sabater followed the same surgery and application of the gene therapy in Antonio’s left eye in March 2023, with steady improvements experienced so far.
“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,” says Dr. Sabater.
“This is a platform that can potentially treat diseases that have a genetic component,” adds Dr. Sabater.
Although the FDA solely approved Krystal Biotech’s eye drops for Antonio, the Company is working with Dr, Sabater to enroll additional patients in a future clinical trial. This ground breaking treatment targets cells on the ocular surface as opposed to the current developments in ocular gene therapy.
Following Antonio’s life changing treatment his mother, Yunielkys “Yuni” Carvajal shares, “I would send this message to other families in similar situations, whether it’s DEB or another condition that can benefit from genetic therapy; Don’t be afraid.”