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