Antonio Vento, a 13-year-old boy living with dystrophic epidermolysis bullosa (DEB), has found relief through a new type of gene therapy that has been applied to his skin and dripped into his eyes. DEB is an inherited condition that makes the skin fragile, causing chronic, blistering wounds. Called “butterfly children,” some children with the condition also develop wounds in their throats and eyes. Antonio is the first person to receive this new commercial gene therapy, called Vyjuvek, which is applied topically. The treatment gives skin cells the ability to form collagen, which helps hold the layers of skin together.
The treatment has been approved by the US Food and Drug Administration (FDA), making it the first commercial gene therapy to be applied topically and the first to be used repeatedly on the same person. According to Krystal Biotech, the Pittsburgh-based startup that developed the treatment, around 3,000 people in the United States are affected by the condition. Until now, treatment options for DEB have been limited. In clinical trials, the treatment proved effective in reducing wounds and improving vision in patients, including Antonio.
In order to apply the treatment, the gene therapy’s missing gene is supplied to skin cells so that they can form collagen. The ointment is rubbed in, providing a simple, convenient, and patient-friendly way to give patients the missing gene. The treatment timetable involves one application per week by a specialist.
The treatment could also be useful for studying other rare skin diseases and has already proved effective in the treatment of DEB. Krystal Biotech’s subsidiary, called Jeune, is currently testing a version of this gene therapy on volunteers to help eliminate crow’s feet and other wrinkles that develop when the body produces less collagen as people age.
Scientists now have numerous options for manipulating genes in a targeted manner. The treatment of humans is much more difficult, as corrected DNA needs to be anchored to treat patients. Gene replacement for the skin could be lucrative not only for medicine but also for cosmetics. The FDA has approved several gene therapies for rare inherited diseases since 2017, including Vyjuvek. This therapy provides chronically ill patients with relief, but it is not a cure. It is a significant step forward in treating DEB and could pave the way for the development of other gene therapies for skin diseases.
