Gene therapy for chronic granulomatous disease

Expert Opin Biol Ther. 2007 Dec;7(12):1799-809. doi: 10.1517/14712598.7.12.1799.

Abstract

Patients with chronic granulomatous disease (CGD) cannot generate reactive oxygen metabolites, and suffer from severe recurrent infections and dysregulated inflammation. Haematopoietic stem cell transplantation is the only established option for definitive cure for patients with a suitable donor and is indicated when conventional prophylaxis and therapy with antimicrobial medication fail. Gene therapy has the potential to cure CGD, and several clinical trials have been conducted since 1997. Whereas initial studies resulted in low and short-term engraftment of CGD-corrected cells, recent trials demonstrated clinical benefit when engraftment was enhanced by busulfan conditioning prior to infusion of gene-corrected cells. However, the progress in gene therapy has been hampered by the appearance of insertional mutagenesis causing leukaemia in a trial for patients with X-linked severe combined immunodeficiency and by the emergence of dominant clones in a recent trial for the X-linked form of CGD. These findings stimulated the development of modified vector systems that demonstrate reduced genotoxicity in vitro and in animal models. New gene therapy protocols that allow efficient gene transfer and durable expression but limit the risk for insertional mutagenesis are envisioned to become an important therapeutic option for patients with CGD.

Publication types

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

MeSH terms

  • Animals
  • Clinical Trials as Topic
  • Disease Models, Animal
  • Genetic Therapy* / adverse effects
  • Genetic Therapy* / methods
  • Genetic Therapy* / trends
  • Granulomatous Disease, Chronic / mortality
  • Granulomatous Disease, Chronic / physiopathology
  • Granulomatous Disease, Chronic / therapy*
  • Humans
  • Mutagenesis, Insertional / methods*