Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients

Science. 1995 Oct 20;270(5235):470-5. doi: 10.1126/science.270.5235.470.

Abstract

Adenosine deaminase (ADA) deficiency results in severe combined immunodeficiency, the first genetic disorder treated by gene therapy. Two different retroviral vectors were used to transfer ex vivo the human ADA minigene into bone marrow cells and peripheral blood lymphocytes from two patients undergoing exogenous enzyme replacement therapy. After 2 years of treatment, long-term survival of T and B lymphocytes, marrow cells, and granulocytes expressing the transferred ADA gene was demonstrated and resulted in normalization of the immune repertoire and restoration of cellular and humoral immunity. After discontinuation of treatment, T lymphocytes, derived from transduced peripheral blood lymphocytes, were progressively replaced by marrow-derived T cells in both patients. These results indicate successful gene transfer into long-lasting progenitor cells, producing a functional multilineage progeny.

Publication types

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

MeSH terms

  • Adenosine Deaminase / administration & dosage
  • Adenosine Deaminase / blood
  • Adenosine Deaminase / deficiency*
  • Adenosine Deaminase / genetics*
  • Adenosine Deaminase / therapeutic use
  • Antibody Formation
  • Base Sequence
  • Bone Marrow Cells
  • Cells, Cultured
  • Child, Preschool
  • Gene Transfer Techniques*
  • Genetic Therapy*
  • Genetic Vectors
  • Hematopoietic Stem Cell Transplantation
  • Hematopoietic Stem Cells* / enzymology
  • Humans
  • Immunity, Cellular
  • Lymphocyte Transfusion
  • Lymphocytes* / enzymology
  • Lymphocytes* / immunology
  • Molecular Sequence Data
  • Severe Combined Immunodeficiency / enzymology
  • Severe Combined Immunodeficiency / genetics
  • Severe Combined Immunodeficiency / immunology
  • Severe Combined Immunodeficiency / therapy*
  • T-Lymphocytes / enzymology
  • T-Lymphocytes / immunology

Substances

  • Adenosine Deaminase
  • pegademase bovine

Grants and funding