Successful Combination of Sequential Gene Therapy and Rescue Allo-HSCT in Two Children with X-CGD - Importance of Timing

Curr Gene Ther. 2015;15(4):416-27. doi: 10.2174/1566523215666150515145255.

Abstract

We report on a series of sequential events leading to long-term survival and cure of pediatric X-linked chronic granulomatous disease (X-CGD) patients after gamma-retroviral gene therapy (GT) and rescue HSCT. Due to therapyrefractory life-threatening infections requiring hematopoietic stem cell transplantation (HSCT) but absence of HLAidentical donors, we treated 2 boys with X-CGD by GT. Following GT both children completely resolved invasive Aspergillus nidulans infections. However, one child developed dual insertional activation of ecotropic viral integration site 1 (EVI1) and signal transducer and activator of transcription 3 (STAT3) genes, leading to myelodysplastic syndrome (MDS) with monosomy 7. Despite resistance to mismatched allo-HSCT with standard myeloablative conditioning, secondary intensified rescue allo-HSCT resulted in 100 % donor chimerism and disappearance of MDS. The other child did not develop MDS despite expansion of a clone with a single insertion in the myelodysplasia syndrome 1 (MDS1) gene and was cured by early standard allo-HSCT. The slowly developing dominance of clones harboring integrations in MDS1-EVI1 may guide clinical intervention strategies, i.e. early rescue allo-HSCT, prior to malignant transformation. GT was essential for both children to survive and to clear therapy-refractory infections, and future GT with safer lentiviral self-inactivated (SIN) vectors may offer a therapeutic alternative for X-CGD patients suffering from life-threatening infections and lacking HLA-identical HSC donors.

Publication types

  • Case Reports
  • Clinical Trial, Phase I
  • Clinical Trial, Phase II
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aspergillosis / therapy
  • Aspergillus nidulans / pathogenicity
  • Child
  • Chromosome Deletion
  • Chromosomes, Human, Pair 7
  • DNA-Binding Proteins / genetics
  • Gammaretrovirus / genetics
  • Genetic Therapy / adverse effects
  • Genetic Therapy / methods*
  • Granulomatous Disease, Chronic / therapy*
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • MDS1 and EVI1 Complex Locus Protein
  • Male
  • Membrane Glycoproteins / genetics
  • Myelodysplastic Syndromes / etiology
  • NADPH Oxidase 2
  • NADPH Oxidases / genetics
  • Proto-Oncogenes / genetics
  • STAT3 Transcription Factor / genetics
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • MDS1 and EVI1 Complex Locus Protein
  • MECOM protein, human
  • Membrane Glycoproteins
  • STAT3 Transcription Factor
  • STAT3 protein, human
  • Transcription Factors
  • CYBB protein, human
  • NADPH Oxidase 2
  • NADPH Oxidases

Supplementary concepts

  • Chromosome 7, monosomy