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Clinical Trial
. 2019 Feb;25(2):225-228.
doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17.

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

Artur V Cideciyan  1 , Samuel G Jacobson  2 , Arlene V Drack  3 , Allen C Ho  4 , Jason Charng  5 , Alexandra V Garafalo  5 , Alejandro J Roman  5 , Alexander Sumaroka  5 , Ian C Han  3 , Maria D Hochstedler  3 , Wanda L Pfeifer  3 , Elliott H Sohn  3 , Magali Taiel  6 , Michael R Schwartz  6 , Patricia Biasutto  6 , Wilma de Wit  6 , Michael E Cheetham  7 , Peter Adamson  6   7 , David M Rodman  6 , Gerard Platenburg  6 , Maria D Tome  6 , Irina Balikova  8 , Fanny Nerinckx  8 , Julie De Zaeytijd  8 , Caroline Van Cauwenbergh  8 , Bart P Leroy  8 , Stephen R Russell  3
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Clinical Trial

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

Artur V Cideciyan et al. Nat Med. 2019 Feb.

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.

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  • Gene therapy for retinal dystrophy.
    Sahel JA, Dalkara D. Sahel JA, et al. Nat Med. 2019 Feb;25(2):198-199. doi: 10.1038/s41591-019-0346-1. Nat Med. 2019. PMID: 30718907 No abstract available.

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