Journal article
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
Nature Medicine, Vol.25(2), pp.225-228
02/01/2019
DOI: 10.1038/s41591-018-0295-0
PMID: 30559420
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.
Details
- Title: Subtitle
- Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
- Creators
- Artur V Cideciyan - University of PennsylvaniaSamuel G Jacobson - University of PennsylvaniaArlene V Drack - University of Iowa, Ophthalmology and Visual SciencesAllen C Ho - Thomas Jefferson UniversityJason Charng - University of PennsylvaniaAlexandra V Garafalo - University of PennsylvaniaAlejandro J Roman - University of PennsylvaniaAlexander Sumaroka - University of PennsylvaniaIan C Han - University of Iowa, Ophthalmology and Visual SciencesMaria D Hochstedler - University of IowaWanda L Pfeifer - University of IowaElliott H Sohn - University of Iowa, Ophthalmology and Visual SciencesMagali Taiel - ProQR Therapeutics (Netherlands)Michael R Schwartz - ProQR Therapeutics (Netherlands)Patricia Biasutto - ProQR Therapeutics (Netherlands)Wilma de Wit - ProQR Therapeutics (Netherlands)Michael E Cheetham - University College LondonPeter Adamson - ProQR Therapeutics (Netherlands)David M Rodman - ProQR Therapeutics (Netherlands)Gerard Platenburg - ProQR Therapeutics (Netherlands)Maria D Tome - ProQR TherapeuticsIrina Balikova - Department of Ophthalmology, Ghent University and Ghent University HospitalFanny Nerinckx - Department of Ophthalmology, Ghent University and Ghent University HospitalJulie De Zaeytijd - Department of Ophthalmology, Ghent University and Ghent University HospitalCaroline Van Cauwenbergh - Department of Ophthalmology, Ghent University and Ghent University HospitalBart P Leroy - Department of Ophthalmology, Ghent University and Ghent University HospitalStephen R Russell - University of Iowa, Ophthalmology and Visual Sciences
- Resource Type
- Journal article
- Publication Details
- Nature Medicine, Vol.25(2), pp.225-228
- DOI
- 10.1038/s41591-018-0295-0
- PMID
- 30559420
- NLM abbreviation
- NATURE MED
- ISSN
- 1078-8956
- eISSN
- 1546-170X
- Publisher
- NATURE PUBLISHING GROUP; NEW YORK
- Number of pages
- 15
- Language
- English
- Date published
- 02/01/2019
- Description audience
- Academic
- Academic Unit
- Stead Family Department of Pediatrics; Ophthalmology and Visual Sciences
- Record Identifier
- 9983607200202771
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