Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

被引：174

作者：

Cideciyan, Artur V. ^{[1
]}

Jacobson, Samuel G. ^{[1
]}

Drack, Arlene V. ^{[2
]}

Ho, Allen C. ^{[3
]}

Charng, Jason ^{[1
]}

Garafalo, Alexandra V. ^{[1
]}

Roman, Alejandro J. ^{[1
]}

Sumaroka, Alexander ^{[1
]}

Han, Ian C. ^{[2
]}

Hochstedler, Maria D. ^{[2
]}

Pfeifer, Wanda L. ^{[2
]}

Sohn, Elliott H. ^{[2
]}

Taiel, Magali ^{[4
]}

Schwartz, Michael R. ^{[4
]}

Biasutto, Patricia ^{[4
]}

de Wit, Wilma ^{[4
]}

Cheetham, Michael E. ^{[5
]}

Adamson, Peter ^{[4
,5
]}

Rodman, David M. ^{[4
]}

Platenburg, Gerard ^{[4
]}

Tome, Maria D. ^{[4
]}

Balikova, Irina ^{[6
,7
]}

Nerinckx, Fanny ^{[6
,7
]}

De Zaeytijd, Julie ^{[6
,7
]}

Van Cauwenbergh, Caroline ^{[6
,7
]}

Leroy, Bart P. ^{[6
,7
]}

Russell, Stephen R. ^{[2
]}

机构：

[1] Univ Penn, Scheie Eye Inst, Dept Ophthalmol, Perelman Sch Med, Philadelphia, PA 19104 USA

[2] Univ Iowa, Dept Ophthalmol & Visual Sci, Carver Coll Med, Iowa City, IA USA

[3] Thomas Jefferson Univ, Wills Eye Hosp, Philadelphia, PA 19107 USA

[4] ProQR Therapeut, Leiden, Netherlands

[5] UCL Inst Ophthalmol, London, England

[6] Univ Ghent, Dept Ophthalmol, Ghent, Belgium

[7] Ghent Univ Hosp, Ghent, Belgium

来源：

NATURE MEDICINE | 2019年 / 25卷 / 02期

关键词：

GENE-THERAPY;

D O I：

10.1038/s41591-018-0295-0

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Photoreceptor ciliopathies constitute the most common molecular mechanism of the childhood blindness Leber congenital amaurosis. Ten patients with Leber congenital amaurosis carrying the c.2991+1655A>G allele in the ciliopathy gene centrosomal protein 290 (CEP290) were treated (ClinicalTrials. gov no. NCT03140969) with intravitreal injections of an antisense oligonucleotide to restore correct splicing. There were no serious adverse events, and vision improved at 3 months. The visual acuity of one exceptional responder improved from light perception to 20/400.

引用

页码：225 / +

页数：15

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