Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa
Arianna Tovar Vetencourt1, Ibrahim Sayed-Ahmed1, Jennifer Gomez1
1From the Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami (A.T., I.S.-A., J.G., A.L.S.); and Krystal Biotech, Pittsburgh (H.C., B.A., K.C., T.P., S.K.).
Abstract:
Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in COL7A1, which encodes type VII collagen. Blistering and scarring of the ocular surface develop, potentially leading to blindness. Beremagene geperpavec (B-VEC) is a replication-deficient herpes simplex virus type 1-based gene therapy engineered to deliver functional human type VII collagen. Here, we report the case of a patient with cicatrizing conjunctivitis in both eyes caused by dystrophic epidermolysis bullosa who received ophthalmic administration of B-VEC, which was associated with improved visual acuity after surgery.
