患者患有营养不良性大疱性表皮松解症的眼基因治疗。

Ocular Gene Therapy in a Patient with Dystrophic Epidermolysis Bullosa.

机构信息

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.).

出版信息

N Engl J Med. 2024 Feb 8;390(6):530-535. doi: 10.1056/NEJMoa2301244.

DOI:10.1056/NEJMoa2301244

PMID:38324486

Abstract

Dystrophic epidermolysis bullosa is a rare genetic disease caused by damaging variants in , 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.

摘要

营养不良型大疱性表皮松解症是一种罕见的遗传性疾病，由编码 VII 型胶原的基因突变引起。眼部表面会出现水疱和瘢痕，可能导致失明。Beremagene geperpavec（B-VEC）是一种基于复制缺陷型单纯疱疹病毒 1 的基因治疗药物，旨在递送功能性人 VII 型胶原。本研究报告了一例由营养不良型大疱性表皮松解症引起的双眼瘢痕性结膜炎患者接受 B-VEC 眼内给药治疗的病例，该患者在手术后视力有所提高。