Experimental Gene Therapy Beneficial in Epidermolysis Bullosa

A novel gene therapy for dystrophic epidermolysis bullosa (DEB) delivered via a skin gel that is applied directly to wounds has been granted priority review by the FDA. The gel contains a modified herpes virus that delivers two functioning copies of COL7A1, the flawed gene found in DEB, to patients’ skin cells. This enables cells to produce the missing collagen protein with the goal of healing wounds, which can otherwise become infected by bacteria and may cause sepsis. For a study published in NEJM, Peter
Marinkovich, MD, and colleagues assessed 31 children and adults with DEB who had one wound treated with the gel and a second, similar wound treated with placebo. After 6 months, 67% of wounds treated with the gene therapy were completely closed, compared with 22% of those treated with the placebo, including healing of longstanding wounds. Although treatment is transient, because the functional COL7A1 gene dies as skin cells naturally die, the trial showed no serious side effects, and the researchers now aim to assess the treatment in children as young as 6 months.