title: Allogeneic hematopoietic SCT for alpha-mannosidosis: an analysis of 17 patients.
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.
authors.affiliation: Department of Pediatric Hematology and Oncology, Hannover Medical School, Carl-Neuberg-Strasse 1, Hannover, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Mynarek
authors.forename: J
authors.initials: J
authors.lastname: Tolar
authors.forename: M H
authors.initials: MH
authors.lastname: Albert
authors.forename: M L
authors.initials: ML
authors.lastname: Escolar
authors.forename: J J
authors.initials: JJ
authors.lastname: Boelens
authors.forename: M J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: N
authors.initials: N
authors.lastname: Finnegan
authors.forename: A
authors.initials: A
authors.lastname: Glomstein
authors.forename: D A
authors.initials: DA
authors.lastname: Jacobsohn
authors.forename: J S
authors.initials: JS
authors.lastname: Kühl
authors.forename: H
authors.initials: H
authors.lastname: Yabe
authors.forename: J
authors.initials: J
authors.lastname: Kurtzberg
authors.forename: D
authors.initials: D
authors.lastname: Malm
authors.forename: P J
authors.initials: PJ
authors.lastname: Orchard
authors.forename: C
authors.initials: C
authors.lastname: Klein
authors.forename: T
authors.initials: T
authors.lastname: Lücke
authors.forename: K-W
authors.initials: KW
authors.lastname: Sykora
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D018380:Hematopoietic Stem Cell Transplantation / Q000379:methods*; D006801:Humans; D007223:Infant; D008297:Male; D008495:Medical Oncology / Q000379:methods; D012189:Retrospective Studies; D014184:Transplantation, Homologous / Q000379:methods; D016896:Treatment Outcome; D008363:alpha-Mannosidosis / Q000628:therapy*