Human Treg responses allow sustained recombinant adeno-associated virus-mediated transgene expression

J Clin Invest. 2013 Dec;123(12):5310-8. doi: 10.1172/JCI70314. Epub 2013 Nov 15.

Abstract

Recombinant adeno-associated virus (rAAV) vectors have shown promise for the treatment of several diseases; however, immune-mediated elimination of transduced cells has been suggested to limit and account for a loss of efficacy. To determine whether rAAV vector expression can persist long term, we administered rAAV vectors expressing normal, M-type α-1 antitrypsin (M-AAT) to AAT-deficient subjects at various doses by multiple i.m. injections. M-specific AAT expression was observed in all subjects in a dose-dependent manner and was sustained for more than 1 year in the absence of immune suppression. Muscle biopsies at 1 year had sustained AAT expression and a reduction of inflammatory cells compared with 3 month biopsies. Deep sequencing of the TCR Vβ region from muscle biopsies demonstrated a limited number of T cell clones that emerged at 3 months after vector administration and persisted for 1 year. In situ immunophenotyping revealed a substantial Treg population in muscle biopsy samples containing AAT-expressing myofibers. Approximately 10% of all T cells in muscle were natural Tregs, which were activated in response to AAV capsid. These results suggest that i.m. delivery of rAAV type 1-AAT (rAAV1-AAT) induces a T regulatory response that allows ongoing transgene expression and indicates that immunomodulatory treatments may not be necessary for rAAV-mediated gene therapy.

Publication types

  • Clinical Trial, Phase II
  • Multicenter Study
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Biopsy
  • Capsid / immunology
  • Clone Cells / chemistry
  • Dependovirus / genetics
  • Dependovirus / immunology*
  • Gene Expression Regulation / immunology
  • Gene Rearrangement, beta-Chain T-Cell Antigen Receptor
  • Genetic Therapy*
  • Genetic Vectors / immunology*
  • Genetic Vectors / therapeutic use
  • Humans
  • Injections, Intramuscular
  • Lymphocyte Activation
  • Muscle, Skeletal / chemistry
  • Muscle, Skeletal / immunology
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / virology
  • Receptors, Antigen, T-Cell, alpha-beta / genetics
  • Recombinant Fusion Proteins / biosynthesis
  • Recombinant Fusion Proteins / genetics
  • Recombinant Fusion Proteins / immunology
  • T-Lymphocytes, Regulatory / immunology*
  • Transgenes / immunology*
  • alpha 1-Antitrypsin / biosynthesis
  • alpha 1-Antitrypsin / genetics
  • alpha 1-Antitrypsin / immunology*
  • alpha 1-Antitrypsin Deficiency / therapy*

Substances

  • Receptors, Antigen, T-Cell, alpha-beta
  • Recombinant Fusion Proteins
  • alpha 1-Antitrypsin