• N. Engl. J. Med. · Feb 2024

    Case Reports

    Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa.

    • Arianna Tovar Vetencourt, Ibrahim Sayed-Ahmed, Jennifer Gomez, Hubert Chen, Brittani Agostini, Kate Carroll, Trevor Parry, Suma Krishnan, and Alfonso L Sabater.
    • From 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.).
    • N. Engl. J. Med. 2024 Feb 8; 390 (6): 530535530-535.

    AbstractDystrophic 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.Copyright © 2024 Massachusetts Medical Society.

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