Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning

Science. 2002 Jun 28;296(5577):2410-3. doi: 10.1126/science.1070104.

Abstract

Hematopoietic stem cell (HSC) gene therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID) has shown limited clinical efficacy because of the small proportion of engrafted genetically corrected HSCs. We describe an improved protocol for gene transfer into HSCs associated with nonmyeloablative conditioning. This protocol was used in two patients for whom enzyme replacement therapy was not available, which allowed the effect of gene therapy alone to be evaluated. Sustained engraftment of engineered HSCs with differentiation into multiple lineages resulted in increased lymphocyte counts, improved immune functions (including antigen-specific responses), and lower toxic metabolites. Both patients are currently at home and clinically well, with normal growth and development. These results indicate the safety and efficacy of HSC gene therapy combined with nonmyeloablative conditioning for the treatment of SCID.

Publication types

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

MeSH terms

  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics*
  • Adenosine Deaminase / metabolism
  • Animals
  • B-Lymphocytes / enzymology
  • B-Lymphocytes / immunology
  • Bone Marrow Transplantation
  • Cell Differentiation
  • Child, Preschool
  • Genetic Therapy*
  • Genetic Vectors
  • Hematopoietic Stem Cell Transplantation*
  • Hematopoietic Stem Cells* / cytology
  • Hematopoietic Stem Cells* / physiology
  • Humans
  • Immunoglobulins / blood
  • Infant
  • Leukocytes / enzymology
  • Leukopoiesis
  • Lymphocyte Activation
  • Mice
  • Mice, SCID
  • Retroviridae / genetics
  • Severe Combined Immunodeficiency / therapy*
  • T-Lymphocytes / enzymology
  • T-Lymphocytes / immunology
  • Transduction, Genetic
  • Transplantation Conditioning*

Substances

  • Immunoglobulins
  • Adenosine Deaminase