1. Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
- Author
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Cideciyan, Artur V., Jacobson, Samuel G., Drack, Arlene V., Ho, Allen C., Charng, Jason, Garafalo, Alexandra V., and Roman, Alejandro J.
- Subjects
Drug therapy ,Analysis ,Genetic aspects ,Research ,Dosage and administration ,Antisense drugs -- Dosage and administration ,Child health -- Analysis ,Blindness -- Genetic aspects -- Drug therapy ,Photoreceptors -- Research ,Genes ,Medical schools ,Genetic disorders ,Clinical trials ,RNA - Abstract
Author(s): Artur V. Cideciyan [sup.1] , Samuel G. Jacobson [sup.1] , Arlene V. Drack [sup.2] , Allen C. Ho [sup.3] , Jason Charng [sup.1] , Alexandra V. Garafalo [sup.1] , [...], 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. (https://clinicaltrials.gov/ct2/show/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. RNA antisense oligonucleotide therapy to restore normal splicing of a ciliopathy gene shows promising safety and efficacy results in a clinical trial to treat a form of childhood blindness. more...
- Published
- 2019
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