Juan Roman, Vice President at Krystal Biotech, gives an overview of dystrophic epidermolysis bullosa (DEB).

As Mr. Roman explains, DEB is one of the major forms of epidermolysis bullosa, a group of genetic skin diseases that cause the skin to blister and erode very easily. The signs and symptoms of DEB vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by mutations in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.

Currently, there are no approved targeted treatments for DEB, but Krystal Biotech announced positive topline results in November 2021 from the phase 3 GEM-3 study using redosable gene therapy, beremagene geperpavec (Vyjuvek), in DEB patients.