Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils

Blood. 2010 Jan 28;115(4):783-91. doi: 10.1182/blood-2009-05-222760. Epub 2009 Dec 1.

Abstract

Chronic granulomatous disease (CGD) is associated with significant morbidity and mortality from infection. The first CGD gene therapy trial resulted in only short-term marking of 0.01% to 0.1% of neutrophils. A recent study, using busulfan conditioning and an SFFV retrovirus vector, achieved more than 20% marking in 2 patients with X-linked CGD. However, oxidase correction per marked neutrophil was less than normal and not sustained. Despite this, patients clearly benefited in that severe infections resolved. As such, we initiated a gene therapy trial for X-CGD to treat severe infections unresponsive to conventional therapy. We treated 3 adult patients using busulfan conditioning and an MFGS retroviral vector encoding gp91(phox), achieving early marking of 26%, 5%, and 4% of neutrophils, respectively, with sustained long-term marking of 1.1% and 0.03% of neutrophils in 2 of the patients. Gene-marked neutrophils have sustained full correction of oxidase activity for 34 and 11 months, respectively, with full or partial resolution of infection in those 2 patients. Gene marking is polyclonal with no clonal dominance. We conclude that busulfan conditioning together with an MFGS vector is capable of achieving long-term correction of neutrophil oxidase function sufficient to provide benefit in management of severe infection. This study was registered at www.clinicaltrials.gov as #NCT00394316.

Publication types

  • Clinical Trial

MeSH terms

  • Adult
  • Aspergillosis / therapy
  • Busulfan / therapeutic use
  • Chromosomes, Human, X / genetics
  • Combined Modality Therapy
  • Genetic Therapy / methods*
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / metabolism
  • Granulomatous Disease, Chronic / therapy*
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Moloney murine leukemia virus / genetics*
  • Monocytes / enzymology
  • Myeloablative Agonists / therapeutic use
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics*
  • NADPH Oxidases / metabolism
  • Neutropenia / therapy
  • Neutrophils / enzymology*
  • Oxidants / metabolism
  • Respiratory Burst / physiology
  • Staphylococcal Infections / therapy
  • Superoxides / metabolism
  • Thrombocytopenia / therapy
  • Transduction, Genetic
  • Transplantation Conditioning / methods
  • Transplantation, Autologous
  • Young Adult

Substances

  • Membrane Glycoproteins
  • Myeloablative Agonists
  • Oxidants
  • Superoxides
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases
  • Busulfan

Associated data

  • ClinicalTrials.gov/NCT00394316