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Pediatric Transplants

Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients


Alpha-mannosidosis is a rare lysosomal storage disease. Hematopoietic SCT (HSCT) is usually recommended as a therapeutic option though reports are anecdotal to date. This retrospective multi institutional analysis describes 17 patients that were diagnosed at a median of 2.5 (1.1–23) years and underwent HSCT at a median of 3.6 (1.3–23.1) years. In all, 15 patients are alive (88%) after a median follow-up of 5.5 (2.1–12.6) years. Two patients died within the first 5 months after HSCT. Of the survivors, two developed severe acute GvHD (>=grade II) and six developed chronic GvHD. Three patients required re-transplantation because of graft failure. All 15 showed stable engraftment. The extent of the patients’ developmental delay before HSCT varied over a wide range. After HSCT, patients made developmental progress, although normal development was not achieved. Hearing ability improved in some, but not in all patients. We conclude that HSCT is a feasible therapeutic option that may promote mental development in alpha-mannosidosis.

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We would like to give our special thanks to all the patients and their parents who took part in this study. Moreover, we want to thank all the physicians and nurses that have been involved in the transplantation and the follow-up care and M Zimmermann for the help with statistical analysis. Our special gratitude goes to Mr J Forman and J Nobel from the ISMRD, who gave significant support to our study.

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Correspondence to K-W Sykora.

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Mynarek, M., Tolar, J., Albert, M. et al. Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients. Bone Marrow Transplant 47, 352–359 (2012).

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