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  • Title: Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa.
    Author: Tovar Vetencourt A, Sayed-Ahmed I, Gomez J, Chen H, Agostini B, Carroll K, Parry T, Krishnan S, Sabater AL.
    Journal: N Engl J Med; 2024 Feb 08; 390(6):530-535. PubMed ID: 38324486.
    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.
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