The experience of allogeneic hematopoietic stem cell transplantation in a patient with X-linked adrenoleukodystrophy

Transfus Apher Sci. 2020 Feb;59(1):102583. doi: 10.1016/j.transci.2019.06.019. Epub 2019 Jul 22.

Abstract

X-linked adrenoleukodystrophy (X-ALD), a progressive neurometabolic disorder that is caused by a defect in the gene ABCD1 (ATP-binding cassette, subfamily D, member 1), which encodes the peroxisomal ABC half-transporter ALD protein. Recently, allogeneic hematopoietic stem cell transplantation (alloHSCT) is the only therapy known to prevent disease progression. In this study, we would like to present our experience of alloHSCT for X-ALD from a HLA matched related sibling by the use of reduced intensity conditioning regimen composed of fludarabine, busulfan and ATG which allows us to reduce procedure-related toxicity and prevent mortality while achieving a curative effect.

Keywords: Allogeneic hematopoietic stem cell transplantation; Neurometabolic disorder; X-linked adrenoleukodystrophy.

Publication types

  • Case Reports

MeSH terms

  • Adrenoleukodystrophy / therapy*
  • Adult
  • Hematopoietic Stem Cell Transplantation / methods*
  • Humans
  • Male
  • Transplantation Conditioning / methods*
  • Transplantation, Homologous / methods*