Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy

Science. 2009 Nov 6;326(5954):818-23. doi: 10.1126/science.1171242.

Abstract

X-linked adrenoleukodystrophy (ALD) is a severe brain demyelinating disease in boys that is caused by a deficiency in ALD protein, an adenosine triphosphate-binding cassette transporter encoded by the ABCD1 gene. ALD progression can be halted by allogeneic hematopoietic cell transplantation (HCT). We initiated a gene therapy trial in two ALD patients for whom there were no matched donors. Autologous CD34+ cells were removed from the patients, genetically corrected ex vivo with a lentiviral vector encoding wild-type ABCD1, and then re-infused into the patients after they had received myeloablative treatment. Over a span of 24 to 30 months of follow-up, we detected polyclonal reconstitution, with 9 to 14% of granulocytes, monocytes, and T and B lymphocytes expressing the ALD protein. These results strongly suggest that hematopoietic stem cells were transduced in the patients. Beginning 14 to 16 months after infusion of the genetically corrected cells, progressive cerebral demyelination in the two patients stopped, a clinical outcome comparable to that achieved by allogeneic HCT. Thus, lentiviral-mediated gene therapy of hematopoietic stem cells can provide clinical benefits in ALD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics
  • Adrenoleukodystrophy / pathology
  • Adrenoleukodystrophy / therapy*
  • Animals
  • Brain / pathology
  • Cell Differentiation
  • Cell Lineage
  • Child
  • Disease Progression
  • Fatty Acids / blood
  • Female
  • Gene Expression
  • Genetic Therapy*
  • Genetic Vectors*
  • HIV-1 / genetics*
  • Hematopoiesis
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells / physiology*
  • Hematopoietic Stem Cells / virology
  • Humans
  • Leukocytes, Mononuclear / metabolism
  • Male
  • Mice
  • Microglia / cytology
  • Microglia / metabolism
  • Myeloablative Agonists / therapeutic use
  • Transduction, Genetic
  • Transplantation Conditioning
  • Transplantation, Autologous
  • Virus Integration

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Fatty Acids
  • Myeloablative Agonists