Ex Vivo Selection of Transduced Hematopoietic Stem Cells for Gene Therapy of β-Hemoglobinopathies

Mol Ther. 2018 Feb 7;26(2):480-495. doi: 10.1016/j.ymthe.2017.10.015. Epub 2017 Oct 24.

Abstract

Although gene transfer to hematopoietic stem cells (HSCs) has shown therapeutic efficacy in recent trials for several individuals with inherited disorders, transduction incompleteness of the HSC population remains a hurdle to yield a cure for all patients with reasonably low integrated vector numbers. In previous attempts at HSC selection, massive loss of transduced HSCs, contamination with non-transduced cells, or lack of applicability to large cell populations has rendered the procedures out of reach for human applications. Here, we fused codon-optimized puromycin N-acetyltransferase to herpes simplex virus thymidine kinase. When expressed from a ubiquitous promoter within a complex lentiviral vector comprising the βAT87Q-globin gene, viral titers and therapeutic gene expression were maintained at effective levels. Complete selection and preservation of transduced HSCs were achieved after brief exposure to puromycin in the presence of MDR1 blocking agents, suggesting the procedure's suitability for human clinical applications while affording the additional safety of conditional suicide.

Keywords: gene therapy; hematopoietic stem cells; hemoglobin disorders; lentiviral vector.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B / genetics
  • Animals
  • Disease Models, Animal
  • Gene Expression
  • Gene Order
  • Genes, Transgenic, Suicide
  • Genetic Therapy* / methods
  • Genetic Vectors / genetics
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells / metabolism*
  • Hemoglobinopathies / genetics*
  • Hemoglobinopathies / therapy*
  • Humans
  • Lentivirus / genetics
  • Mice
  • Mice, Transgenic
  • Transduction, Genetic*
  • Transgenes
  • beta-Globins / genetics*

Substances

  • ABCB1 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • beta-Globins