Allogeneic hematopoietic SCT for alpha-mannosidosis
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Allogeneic hematopoietic SCT for alpha-mannosidosis : an analysis of 17 patients. / 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.
In: BONE MARROW TRANSPL, Vol. 47, No. 3, 03.2012, p. 352-9.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Allogeneic hematopoietic SCT for alpha-mannosidosis
T2 - an analysis of 17 patients
AU - Mynarek, M
AU - Tolar, J
AU - Albert, M H
AU - Escolar, M L
AU - Boelens, J J
AU - Cowan, M J
AU - Finnegan, N
AU - Glomstein, A
AU - Jacobsohn, D A
AU - Kühl, J S
AU - Yabe, H
AU - Kurtzberg, J
AU - Malm, D
AU - Orchard, P J
AU - Klein, C
AU - Lücke, T
AU - Sykora, K-W
PY - 2012/3
Y1 - 2012/3
N2 - 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.
AB - 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.
KW - Adolescent
KW - Adult
KW - Child
KW - Child, Preschool
KW - Female
KW - Follow-Up Studies
KW - Hematopoietic Stem Cell Transplantation
KW - Humans
KW - Infant
KW - Male
KW - Medical Oncology
KW - Retrospective Studies
KW - Transplantation, Homologous
KW - Treatment Outcome
KW - alpha-Mannosidosis
KW - Journal Article
KW - Multicenter Study
U2 - 10.1038/bmt.2011.99
DO - 10.1038/bmt.2011.99
M3 - SCORING: Journal article
C2 - 21552297
VL - 47
SP - 352
EP - 359
JO - BONE MARROW TRANSPL
JF - BONE MARROW TRANSPL
SN - 0268-3369
IS - 3
ER -