Integrome signatures of lentiviral gene therapy for SCID-X1 patients

Sci Adv. 2023 Oct 6;9(40):eadg9959. doi: 10.1126/sciadv.adg9959. Epub 2023 Oct 6.

Abstract

Lentiviral vector (LV)-based gene therapy holds promise for a broad range of diseases. Analyzing more than 280,000 vector integration sites (VISs) in 273 samples from 10 patients with X-linked severe combined immunodeficiency (SCID-X1), we discovered shared LV integrome signatures in 9 of 10 patients in relation to the genomics, epigenomics, and 3D structure of the human genome. VISs were enriched in the nuclear subcompartment A1 and integrated into super-enhancers close to nuclear pore complexes. These signatures were validated in T cells transduced with an LV encoding a CD19-specific chimeric antigen receptor. Intriguingly, the one patient whose VISs deviated from the identified integrome signatures had a distinct clinical course. Comparison of LV and gamma retrovirus integromes regarding their 3D genome signatures identified differences that might explain the lower risk of insertional mutagenesis in LV-based gene therapy. Our findings suggest that LV integrome signatures, shaped by common features such as genome organization, may affect the efficacy of LV-based cellular therapies.

MeSH terms

  • Genetic Therapy
  • Genetic Vectors* / genetics
  • Humans
  • Retroviridae / genetics
  • T-Lymphocytes
  • X-Linked Combined Immunodeficiency Diseases* / genetics
  • X-Linked Combined Immunodeficiency Diseases* / therapy