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Front. Pediatr. | doi: 10.3389/fped.2019.00433

Haematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism - On Behalf of IEWP-EBMT

 Emily Y. Tan1, Jaap Jan Boelens2,  Simon A. Jones3 and  Robert F. Wynn3*
  • 1University of Western Australia, Australia
  • 2Stem Cell Transplant and Cellular Therapies, Memorial Sloan Kettering Cancer Center, United States
  • 3Royal Manchester Children's Hospital, United Kingdom

Haematopoietic stem cell transplantation (HSCT) has been established as an effective therapy for selected inborn errors of metabolism. The success of HSCT in metabolic disease is best exemplified through the treatment of Hurler’s syndrome, a lysosomal storage disease. Through the collaborative effort of several international centres, factors that predict successful patient and transplant outcomes have been identified. In this review, we discuss the principles that underlie the use of HSCT in metabolic diseases. We consider the clinical indications, conditioning regimens and disease-specific follow-up for HSCT in different metabolic diseases. We highlight persisting challenges in HSCT to delay progression of certain organ systems that remain refractory to HSCT and the relatively high rates of aplastic graft failure. Finally, we evaluate the variable applicability of these principles to other inherited metabolic disorders including peroxisomal, mitochondrial and other lysosomal storage diseases.

Keywords: Bone Marrow Transplant, Inborn errors of metabolism, Peroxisomal disease, mitochondrial disease, lysosomal storage disease, Haematopoietic stem cell transplantation (HSCT)

Received: 30 Jul 2019; Accepted: 07 Oct 2019.

Copyright: © 2019 Tan, Boelens, Jones and Wynn. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Prof. Robert F. Wynn, Royal Manchester Children's Hospital, Manchester, United Kingdom, Robert.Wynn@mft.nhs.uk