| Title: |
Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect |
| Authors: |
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 |
| Source: |
Nature Medicine , 25 pp. 225-228. (2019) |
| Publication Year: |
2019 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Antisense oligonucleotide therapy; Clinical trials; Neurodegeneration; Oligo delivery |
| Description: |
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. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10064672/1/Ms%20small.pdf; https://discovery.ucl.ac.uk/id/eprint/10064672/6/Supplemental%20Information%2011_26_18%20FINAL.pdf; https://discovery.ucl.ac.uk/id/eprint/10064672/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10064672/1/Ms%20small.pdf; https://discovery.ucl.ac.uk/id/eprint/10064672/6/Supplemental%20Information%2011_26_18%20FINAL.pdf; https://discovery.ucl.ac.uk/id/eprint/10064672/ |
| Rights: |
open |
| Accession Number: |
edsbas.FB3D5E05 |
| Database: |
BASE |