Gene Therapy of the β-Hemoglobinopathies by Lentiviral Transfer of the β(A(T87Q))-Globin Gene

Hum Gene Ther. 2016 Feb;27(2):148-65. doi: 10.1089/hum.2016.007.

Abstract

β-globin gene disorders are the most prevalent inherited diseases worldwide and result from abnormal β-globin synthesis or structure. Novel therapeutic approaches are being developed in an effort to move beyond palliative management. Gene therapy, by ex vivo lentiviral transfer of a therapeutic β-globin gene derivative (β(AT87Q)-globin) to hematopoietic stem cells, driven by cis-regulatory elements that confer high, erythroid-specific expression, has been evaluated in human clinical trials over the past 8 years. β(AT87Q)-globin is used both as a strong inhibitor of HbS polymerization and as a biomarker. While long-term studies are underway in multiple centers in Europe and in the United States, proof-of-principle of efficacy and safety has already been obtained in multiple patients with β-thalassemia and sickle cell disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anemia, Sickle Cell / genetics
  • Anemia, Sickle Cell / metabolism
  • Anemia, Sickle Cell / pathology
  • Anemia, Sickle Cell / therapy*
  • Clinical Trials as Topic
  • Gene Expression
  • Gene Transfer Techniques
  • Genetic Therapy / methods*
  • Genetic Vectors / chemistry
  • Genetic Vectors / metabolism
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells
  • Humans
  • Lentivirus / genetics
  • Lentivirus / metabolism
  • Patient Safety
  • Transgenes
  • Transplantation Conditioning / methods
  • beta-Globins / genetics*
  • beta-Globins / metabolism
  • beta-Thalassemia / genetics
  • beta-Thalassemia / metabolism
  • beta-Thalassemia / pathology
  • beta-Thalassemia / therapy*

Substances

  • beta-Globins