Cideciyan, AV;
Jacobson, SG;
Drack, AV;
Ho, AC;
Charng, J;
Garafalo, AV;
Roman, AJ;
... Russell, SR; + view all
(2019)
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.
Nature Medicine
, 25
pp. 225-228.
10.1038/s41591-018-0295-0.
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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.
| Type: | Article |
|---|---|
| Title: | Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1038/s41591-018-0295-0 |
| Publisher version: | http://doi.org/10.1038/s41591-018-0295-0 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Antisense oligonucleotide therapy, Clinical trials, Neurodegeneration, Oligo delivery |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10064672 |
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