Gene therapy for RPE65-related retinal disease

被引：93

作者：

Utz, Virginia Miraldi ^{[1
,2
]}

Coussa, Razek Georges ^{[3
]}

Antaki, Fares ^{[4
]}

Traboulsi, Elias, I ^{[3
]}

机构：

[1] Cincinnati Childrens Hosp Med Ctr, Abrahamson Pediat Eye Inst, Cincinnati, OH 45229 USA

[2] Univ Cincinnati, Dept Ophthalmol, Cincinnati, OH USA

[3] Cleveland Clin, Cole Eye Inst, Cleveland, OH 44106 USA

[4] Univ Montreal, Dept Ophthalmol, Montreal, PQ, Canada

来源：

OPHTHALMIC GENETICS | 2018年 / 39卷 / 06期

关键词：

RPE65; gene therapy; Leber Congenital Amaurosis; voretigine neparvovec; clinical trials; LEBER CONGENITAL AMAUROSIS; MOLECULAR-GENETICS; CLINICAL-FEATURES; DOMINANT MUTATION; RPE65; MUTATIONS; VISUAL CYCLE; SAFETY; DYSTROPHY; VISION; EFFICACY;

D O I：

10.1080/13816810.2018.1533027

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Significant discoveries in the etiology and pathogenesis of inherited retinal diseases (IRDs) have been made in the last few decades. Of the large number genes that cause IRDs, bi-allelic mutations in RPE65 lead to Leber Congenital Amaurosis type 2 (LCA 2), and can also result in phenotypes described as severe early childhood onset retinal dystrophy (SECORD) and Retinitis pigmentosa 20 (RP20). Following the publication of the successful Phase-III clinical trials of gene augmentation surgery for RPE65-related IRDs with voretigene neparvovec, the FDA approved the commercial use of this pharmacologic agent in December 2017. In this perspective, ongoing and completed gene therapy trials for RPE65-related dystrophies are reviewed and challenges in patient selection, counseling and informed consent, as well as financial considerations of commercial treatment are discussed.

引用

页码：671 / 677

页数：7

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