Liver gene therapy with intein-mediated F8 trans-splicing corrects mouse haemophilia A

EMBO Mol Med. 2022 Jun 8;14(6):e15199. doi: 10.15252/emmm.202115199. Epub 2022 May 2.

Abstract

Liver gene therapy with adeno-associated viral (AAV) vectors is under clinical investigation for haemophilia A (HemA), the most common inherited X-linked bleeding disorder. Major limitations are the large size of the F8 transgene, which makes packaging in a single AAV vector a challenge, as well as the development of circulating anti-F8 antibodies which neutralise F8 activity. Taking advantage of split-intein-mediated protein trans-splicing, we divided the coding sequence of the large and highly secreted F8-N6 variant in two separate AAV-intein vectors whose co-administration to HemA mice results in the expression of therapeutic levels of F8 over time. This occurred without eliciting circulating anti-F8 antibodies unlike animals treated with the single oversized AAV-F8 vector under clinical development. Therefore, liver gene therapy with AAV-F8-N6 intein should be considered as a potential therapeutic strategy for HemA.

Keywords: AAV vectors; haemophilia A; liver gene therapy; protein trans-splicing.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Dependovirus / genetics
  • Genetic Therapy / methods
  • Genetic Vectors
  • Hemophilia A* / genetics
  • Hemophilia A* / therapy
  • Inteins* / genetics
  • Liver
  • Mice
  • Trans-Splicing