N Engl J Med:营养不良型大疱性表皮松解症患者的眼部基因治疗
本文由小咖机器人翻译整理
期刊来源:N Engl J Med
原文链接:https://doi.org/10.1056/NEJMoa2301244
摘要内容如下:
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COL7A1的破坏性变异引起。眼表出现水泡和疤痕,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型的基因疗法,用于递送功能性人VII型胶原。在此,我们报告了一例由营养不良性大疱性表皮松解症引起的双眼瘢痕性结膜炎患者,该患者接受了B-VEC眼科治疗,术后视力得到改善。
英文原文如下:
Abstracts
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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