Retinal dystrophy gene therapy

Retinal dystrophy affects rod and cone photoreceptors in result of mutations involved in eye development and function. Gene therapies for retinal dystrophies can follow the path of restoring healthy gene expression (antisense oligonucleotides, RNA interference, gene insertion) or correcting mutated sequences (CRISPR base editors, CRISPR deletions).

Current experimental, genetic treatments for retinal dystrophy:

  • 2018 – ongoing: QR-421a, clinical 18-person trial, antisense oligonucleotides (NCT03780257)
  • 2017 – ongoing: AAV-RPGR, clinical 36-person trial, gene insertion (NCT03252847)
  • 2017 – ongoing: CPK850, clinical 21-person trial, gene insertion (NCT03374657)
  • 2015 – ongoing: RST-001, clinical 21-person trial, gene insertion (NCT02556736)

Approved genetic treatments for retinal dystrophy:

  • “Luxturna” for RPE65 mutations (producer website), approved in US since 2017 and in EU since 2018