In vivo delivery of CRISPR-Cas9 using lipid nanoparticles enables antithrombin gene editing for sustainable hemophilia A and B therapy

Sci Adv. 2022 Jan 21;8(3):eabj6901. doi: 10.1126/sciadv.abj6901. Epub 2022 Jan 21.

Abstract

Hemophilia is a hereditary disease that remains incurable. Although innovative treatments such as gene therapy or bispecific antibody therapy have been introduced, substantial unmet needs still exist with respect to achieving long-lasting therapeutic effects and treatment options for inhibitor patients. Antithrombin (AT), an endogenous negative regulator of thrombin generation, is a potent genome editing target for sustainable treatment of patients with hemophilia A and B. In this study, we developed and optimized lipid nanoparticles (LNPs) to deliver Cas9 mRNA along with single guide RNA that targeted AT in the mouse liver. The LNP-mediated CRISPR-Cas9 delivery resulted in the inhibition of AT that led to improvement in thrombin generation. Bleeding-associated phenotypes were recovered in both hemophilia A and B mice. No active off-targets, liver-induced toxicity, and substantial anti-Cas9 immune responses were detected, indicating that the LNP-mediated CRISPR-Cas9 delivery was a safe and efficient approach for hemophilia therapy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Antithrombins
  • CRISPR-Cas Systems / genetics
  • Gene Editing / methods
  • Hemophilia A* / genetics
  • Hemophilia A* / therapy
  • Humans
  • Liposomes
  • Mice
  • Nanoparticles*
  • Thrombin / genetics

Substances

  • Antithrombins
  • Lipid Nanoparticles
  • Liposomes
  • Thrombin