Stem-cell gene therapy for the Wiskott-Aldrich syndrome

N Engl J Med. 2010 Nov 11;363(20):1918-27. doi: 10.1056/NEJMoa1003548.

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder associated with thrombocytopenia, eczema, and autoimmunity. We treated two patients who had this disorder with a transfusion of autologous, genetically modified hematopoietic stem cells (HSC). We found sustained expression of WAS protein expression in HSC, lymphoid and myeloid cells, and platelets after gene therapy. T and B cells, natural killer (NK) cells, and monocytes were functionally corrected. After treatment, the patients' clinical condition markedly improved, with resolution of hemorrhagic diathesis, eczema, autoimmunity, and predisposition to severe infection. Comprehensive insertion-site analysis showed vector integration that targeted multiple genes controlling growth and immunologic responses in a persistently polyclonal hematopoiesis. (Funded by Deutsche Forschungsgemeinschaft and others; German Clinical Trials Register number, DRKS00000330.).

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Transfer Techniques
  • Genetic Therapy* / adverse effects
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Humans
  • Infant
  • Male
  • Mutagenesis, Insertional
  • Transplantation, Autologous
  • Wiskott-Aldrich Syndrome / genetics
  • Wiskott-Aldrich Syndrome / immunology
  • Wiskott-Aldrich Syndrome / therapy*
  • Wiskott-Aldrich Syndrome Protein Family / genetics*

Substances

  • Wiskott-Aldrich Syndrome Protein Family