Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa
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N Engl J Med. 2024 Feb 8;390(6):530-535. doi: 10.1056/NEJMoa2301244. PMID: 38324486.

Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa

Authors: Arianna Tovar Vetencourt 1Ibrahim Sayed-Ahmed 1Jennifer Gomez 1Hubert Chen 1Brittani Agostini 1Kate Carroll 1Trevor Parry 1Suma Krishnan 1Alfonso L Sabater 1

Affiliation:


  1. 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.).

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.

Download: https://www.nejm.org/doi/full/10.1056/NEJMoa2301244 (articolo a pagamento)