Correction of beta-thalassemia major by gene transfer in haematopoietic progenitors of pediatric patients

EMBO Mol Med. 2010 Aug;2(8):315-28. doi: 10.1002/emmm.201000083.

Abstract

Beta-thalassemia is a common monogenic disorder due to mutations in the beta-globin gene and gene therapy, based on autologous transplantation of genetically corrected haematopoietic stem cells (HSCs), holds the promise to treat patients lacking a compatible bone marrow (BM) donor. We recently showed correction of murine beta-thalassemia by gene transfer in HSCs with the GLOBE lentiviral vector (LV), expressing a transcriptionally regulated human beta-globin gene. Here, we report successful correction of thalassemia major in human cells, by studying a large cohort of pediatric patients of diverse ethnic origin, carriers of different mutations and all candidates to BM transplantation. Extensive characterization of BM-derived CD34(+) cells before and following gene transfer shows the achievement of high frequency of transduction, restoration of haemoglobin A synthesis, rescue from apoptosis and correction of ineffective erythropoiesis. The procedure does not significantly affect the differentiating potential and the relative proportion of haematopoietic progenitors. Analysis of vector integrations shows preferential targeting of transcriptionally active regions, without bias for cancer-related genes. Overall, these results provide a solid rationale for a future clinical translation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Cells, Cultured
  • Child
  • Child, Preschool
  • Female
  • Genetic Therapy / methods*
  • Genetic Vectors*
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells / metabolism*
  • Hemoglobin A / biosynthesis
  • Humans
  • Lentivirus / genetics*
  • Male
  • Transduction, Genetic
  • Transplantation, Autologous
  • beta-Thalassemia / therapy*

Substances

  • Hemoglobin A