eprintid: 10064672
rev_number: 25
eprint_status: archive
userid: 608
dir: disk0/10/06/46/72
datestamp: 2018-12-21 12:55:18
lastmod: 2021-09-17 22:15:29
status_changed: 2020-06-08 09:57:34
type: article
metadata_visibility: show
creators_name: Cideciyan, AV
creators_name: Jacobson, SG
creators_name: Drack, AV
creators_name: Ho, AC
creators_name: Charng, J
creators_name: Garafalo, AV
creators_name: Roman, AJ
creators_name: Sumaroka, A
creators_name: Han, IC
creators_name: Hochstedler, MD
creators_name: Pfeifer, WL
creators_name: Sohn, EH
creators_name: Taiel, M
creators_name: Schwartz, MR
creators_name: Biasutto, P
creators_name: Wit, WD
creators_name: Cheetham, ME
creators_name: Adamson, P
creators_name: Rodman, DM
creators_name: Platenburg, G
creators_name: Tome, MD
creators_name: Balikova, I
creators_name: Nerinckx, F
creators_name: Zaeytijd, JD
creators_name: Van Cauwenbergh, C
creators_name: Leroy, BP
creators_name: Russell, SR
title: Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect
ispublished: pub
divisions: UCL
divisions: B02
divisions: C07
divisions: D08
keywords: Antisense oligonucleotide therapy, Clinical trials, Neurodegeneration, Oligo delivery
note: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
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.
date: 2019-02
date_type: published
official_url: http://doi.org/10.1038/s41591-018-0295-0
oa_status: green
full_text_type: other
language: eng
primo: open
primo_central: open_green
verified: verified_manual
elements_id: 1614482
doi: 10.1038/s41591-018-0295-0
lyricists_name: Cheetham, Michael
lyricists_id: MECHE52
actors_name: Cheetham, Michael
actors_id: MECHE52
actors_role: owner
full_text_status: public
publication: Nature Medicine
volume: 25
pagerange: 225-228
citation:        Cideciyan, AV;    Jacobson, SG;    Drack, AV;    Ho, AC;    Charng, J;    Garafalo, AV;    Roman, AJ;                                                                                 ... Russell, SR; + view all <#>        Cideciyan, AV;  Jacobson, SG;  Drack, AV;  Ho, AC;  Charng, J;  Garafalo, AV;  Roman, AJ;  Sumaroka, A;  Han, IC;  Hochstedler, MD;  Pfeifer, WL;  Sohn, EH;  Taiel, M;  Schwartz, MR;  Biasutto, P;  Wit, WD;  Cheetham, ME;  Adamson, P;  Rodman, DM;  Platenburg, G;  Tome, MD;  Balikova, I;  Nerinckx, F;  Zaeytijd, JD;  Van Cauwenbergh, C;  Leroy, BP;  Russell, SR;   - view fewer <#>    (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 <https://doi.org/10.1038/s41591-018-0295-0>.       Green open access   
 
document_url: https://discovery.ucl.ac.uk/id/eprint/10064672/1/Ms%20small.pdf
document_url: https://discovery.ucl.ac.uk/id/eprint/10064672/6/Supplemental%20Information%2011_26_18%20FINAL.pdf