From bench to bedside: preclinical evaluation of a self-inactivating gammaretroviral vector for the gene therapy of X-linked chronic granulomatous disease

Hum Gene Ther Clin Dev. 2013 Jun;24(2):86-98. doi: 10.1089/humc.2013.019.

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by impaired antimicrobial activity in phagocytic cells. As a monogenic disease affecting the hematopoietic system, CGD is amenable to gene therapy. Indeed in a phase I/II clinical trial, we demonstrated a transient resolution of bacterial and fungal infections. However, the therapeutic benefit was compromised by the occurrence of clonal dominance and malignant transformation demanding alternative vectors with equal efficacy but safety-improved features. In this work we have developed and tested a self-inactivating (SIN) gammaretroviral vector (SINfes.gp91s) containing a codon-optimized transgene (gp91(phox)) under the transcriptional control of a myeloid promoter for the gene therapy of the X-linked form of CGD (X-CGD). Gene-corrected cells protected X-CGD mice from Aspergillus fumigatus challenge at low vector copy numbers. Moreover, the SINfes.gp91s vector generates substantial amounts of superoxide in human cells transplanted into immunodeficient mice. In vitro genotoxicity assays and longitudinal high-throughput integration site analysis in transplanted mice comprising primary and secondary animals for 11 months revealed a safe integration site profile with no signs of clonal dominance.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Aspergillus fumigatus / pathogenicity
  • Cells, Cultured
  • DNA Methylation
  • Disease Models, Animal
  • Drug Evaluation, Preclinical
  • Gammaretrovirus / genetics*
  • Genetic Therapy
  • Genetic Vectors / genetics
  • Genetic Vectors / metabolism*
  • Granulomatous Disease, Chronic / therapy*
  • Humans
  • Lung Diseases / microbiology
  • Lung Diseases / pathology
  • Membrane Glycoproteins / genetics
  • Membrane Glycoproteins / metabolism
  • Mice
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • NADPH Oxidases / metabolism
  • Phenotype
  • Promoter Regions, Genetic
  • Proto-Oncogene Proteins c-fes / genetics
  • Superoxides / metabolism

Substances

  • Membrane Glycoproteins
  • Superoxides
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • Proto-Oncogene Proteins c-fes