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

Artur V. Cideciyan, Samuel G. Jacobson, Arlene V. Drack, Allen C. Ho, Jason Charng, Alexandra V. Garafalo, Alejandro J. Roman, Alexander Sumaroka, Ian C. Han, Maria D. Hochstedler, Wanda L. Pfeifer, Elliott H. Sohn, Magali Taiel, Michael R. Schwartz, Patricia Biasutto, Wilma de Wit, Michael E. Cheetham, Peter Adamson, David M. Rodman, Gerard PlatenburgMaria D. Tome, Irina Balikova, Fanny Nerinckx, Julie De Zaeytijd, Caroline Van Cauwenbergh, Bart P. Leroy, Stephen R. Russell

Research output: Contribution to journalArticlepeer-review

101 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)225-228
JournalNature Medicine
Volume25
DOIs
Publication statusPublished - Feb 2019
Externally publishedYes

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