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

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Ciftciler R., GÖKER H., BÜYÜKAŞIK Y., TOPÇU M., Gevher N., DEMİROĞLU H.

TRANSFUSION AND APHERESIS SCIENCE, vol.59, no.1, 2020 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 59 Issue: 1
• Publication Date: 2020
• Doi Number: 10.1016/j.transci.2019.06.019
• Journal Name: TRANSFUSION AND APHERESIS SCIENCE
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, Biotechnology Research Abstracts, EMBASE, MEDLINE
• Open Archive Collection: AVESIS Open Access Collection
• Hacettepe University Affiliated: Yes

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.