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

M. Mynarek; J. Tolar; M. H. Albert; M. L. Escolar; J. J. Boelens; M. J. Cowan; N. Finnegan; A. Glomstein; D. A. Jacobsohn; J. S. Kühl; H. Yabe; J. Kurtzberg; D. Malm; P. J. Orchard; C. Klein; T. Lücke; K. W. Sykora

doi:10.1038/bmt.2011.99

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

M. Mynarek, J. Tolar, M. H. Albert, M. L. Escolar, J. J. Boelens, M. J. Cowan, N. Finnegan, A. Glomstein, D. A. Jacobsohn, J. S. Kühl, H. Yabe, J. Kurtzberg, D. Malm, P. J. Orchard, C. Klein, T. Lücke, K. W. Sykora

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Abstract

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.

Original language	English (US)
Pages (from-to)	352-359
Number of pages	8
Journal	Bone marrow transplantation
Volume	47
Issue number	3
DOIs	https://doi.org/10.1038/bmt.2011.99
State	Published - Mar 2012

Keywords

alpha-mannosidosis
hematopoietic SCT
inborn errors of metabolism
lysosomal storage disease
neurodevelopment
outcome

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Mynarek, M., Tolar, J., Albert, M. H., Escolar, M. L., Boelens, J. J., Cowan, M. J., Finnegan, N., Glomstein, A., Jacobsohn, D. A., Kühl, J. S., Yabe, H., Kurtzberg, J., Malm, D., Orchard, P. J., Klein, C., Lücke, T., & Sykora, K. W. (2012). Allogeneic hematopoietic SCT for alpha-mannosidosis: An analysis of 17 patients. Bone marrow transplantation, 47(3), 352-359. https://doi.org/10.1038/bmt.2011.99

Mynarek, M, Tolar, J, Albert, MH, Escolar, ML, Boelens, JJ, Cowan, MJ, Finnegan, N, Glomstein, A, Jacobsohn, DA, Kühl, JS, Yabe, H, Kurtzberg, J, Malm, D, Orchard, PJ, Klein, C, Lücke, T & Sykora, KW 2012, 'Allogeneic hematopoietic SCT for alpha-mannosidosis: An analysis of 17 patients', Bone marrow transplantation, vol. 47, no. 3, pp. 352-359. https://doi.org/10.1038/bmt.2011.99

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

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