Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

Nat Med. 2019 Feb;25(2):229-233. doi: 10.1038/s41591-018-0327-9. Epub 2019 Jan 21.

Abstract

Leber congenital amaurosis type 10 is a severe retinal dystrophy caused by mutations in the CEP290 gene1,2. We developed EDIT-101, a candidate genome-editing therapeutic, to remove the aberrant splice donor created by the IVS26 mutation in the CEP290 gene and restore normal CEP290 expression. Key to this therapeutic, we identified a pair of Staphylococcus aureus Cas9 guide RNAs that were highly active and specific to the human CEP290 target sequence. In vitro experiments in human cells and retinal explants demonstrated the molecular mechanism of action and nuclease specificity. Subretinal delivery of EDIT-101 in humanized CEP290 mice showed rapid and sustained CEP290 gene editing. A comparable surrogate non-human primate (NHP) vector also achieved productive editing of the NHP CEP290 gene at levels that met the target therapeutic threshold, and demonstrated the ability of CRISPR/Cas9 to edit somatic primate cells in vivo. These results support further development of EDIT-101 for LCA10 and additional CRISPR-based medicines for other inherited retinal disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cell Line
  • Gene Editing*
  • Gene Knock-In Techniques
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Leber Congenital Amaurosis / physiopathology*
  • Mice
  • Primates
  • Reproducibility of Results
  • Vision, Ocular

Supplementary concepts

  • Leber Congenital Amaurosis 10