Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis
The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi-center study evaluated the outcomes of patients who underwent HSCT for their alpha-mannosidosis after 2010. Twenty-one children (11 females) with enzymatically...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
23 June 2025
|
| In: |
Journal of inherited metabolic disease
Year: 2025, Jahrgang: 48, Heft: 4, Pages: 1-16 |
| ISSN: | 1573-2665 |
| DOI: | 10.1002/jimd.70047 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1002/jimd.70047 Verlag, kostenfrei, Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.70047 
|
| Verfasserangaben: | Robert Šáhó, Renata Formánková, Julie B. Eisengart, Allan Meldgaard Lund, Cecilie Videbaek, Berrak Bilginer Gürbüz, Namık Yaşar Özbek, Fatma Al Jasmi, Pavel Ješina, François Feillet, Cécile Pochon, Anne-Sophie Guémann, Moeenaldeen AlSayed, Sabine Laktina, Sema Kalkan Uçar, Serap Aksoylar, Troy C. Lund, Paul John Orchard, Fatma Tuba Eminoğlu, Talia İleri, Çiğdem Seher Kasapkara, Akif Yeşilipek, Ali Tunç Tuncel, Ansgar Schulz, Katarína Juríčková, Anna Hlavatá, Lucia Santoro, Martin Magner |
MARC
| LEADER | 00000naa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1946239305 | ||
| 003 | DE-627 | ||
| 005 | 20251216152547.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 251216s2025 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/jimd.70047 |2 doi | |
| 035 | |a (DE-627)1946239305 | ||
| 035 | |a (DE-599)KXP1946239305 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Šáhó, Robert |e VerfasserIn |0 (DE-588)138450334X |0 (DE-627)1946240915 |4 aut | |
| 245 | 1 | 0 | |a Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis |c Robert Šáhó, Renata Formánková, Julie B. Eisengart, Allan Meldgaard Lund, Cecilie Videbaek, Berrak Bilginer Gürbüz, Namık Yaşar Özbek, Fatma Al Jasmi, Pavel Ješina, François Feillet, Cécile Pochon, Anne-Sophie Guémann, Moeenaldeen AlSayed, Sabine Laktina, Sema Kalkan Uçar, Serap Aksoylar, Troy C. Lund, Paul John Orchard, Fatma Tuba Eminoğlu, Talia İleri, Çiğdem Seher Kasapkara, Akif Yeşilipek, Ali Tunç Tuncel, Ansgar Schulz, Katarína Juríčková, Anna Hlavatá, Lucia Santoro, Martin Magner |
| 264 | 1 | |c 23 June 2025 | |
| 300 | |b Tabellen | ||
| 300 | |a 16 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 16.12.2025 | ||
| 520 | |a The outcomes of alpha-mannosidosis after hematopoietic stem cell transplantation (HSCT) are incompletely described. This retrospective multi-center study evaluated the outcomes of patients who underwent HSCT for their alpha-mannosidosis after 2010. Twenty-one children (11 females) with enzymatically and/or genetically confirmed alpha-mannosidosis, diagnosed at a mean age of 14 months (0-60 months), were included. The median age at HSCT was 3.9 years (10 months to 13.3 years) with a median follow-up of 2.3 years (0.3-14.1 years). Seventy-four percent (14/19) of patients received an unrelated graft while the rest had a matched sibling donor. Primary engraftment was reached in 17 of 21 patients; four patients required a second HSCT with successful subsequent engraftment. Nine patients had severe post-HSCT infections, five patients developed acute graft-versus-host disease (GvHD) (> = grade II), and one patient had chronic GvHD. No patient died during follow-up. Seven out of ten patients received enzyme replacement therapy both pre- and post-HSCT. Among children with clinical symptoms, improvement was documented in hepatomegaly (40% of patients before HSCT, down to 10% after), recurrent infections (62%/30%), and hearing disorder (85%/65%). In 13 patients with developmental data, outcomes after HSCT suggested at least mild delays persisted post-HSCT in the majority (85%), with some trends of higher functioning with earlier treatment. Findings suggest HSCT has shown notable improvements in safety and is associated with clinical benefit in alpha-mannosidosis. Neurodevelopmental findings require longer-term study to account for phenotypic diversity. | ||
| 650 | 4 | |a alpha-mannosidosis | |
| 650 | 4 | |a hematopoietic stem cell transplantation | |
| 650 | 4 | |a HSCT | |
| 650 | 4 | |a lysosomal storage disease | |
| 650 | 4 | |a outcomes | |
| 650 | 4 | |a transplantation | |
| 700 | 1 | |a Formánková, Renata |e VerfasserIn |4 aut | |
| 700 | 1 | |a Eisengart, Julie B. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lund, Allan Meldgaard |e VerfasserIn |4 aut | |
| 700 | 1 | |a Videbaek, Cecilie |e VerfasserIn |4 aut | |
| 700 | 1 | |a Gürbüz, Berrak Bilginer |e VerfasserIn |4 aut | |
| 700 | 1 | |a Özbek, Namık Yaşar |e VerfasserIn |4 aut | |
| 700 | 1 | |a Al Jasmi, Fatma |e VerfasserIn |4 aut | |
| 700 | 1 | |a Ješina, Pavel |e VerfasserIn |4 aut | |
| 700 | 1 | |a Feillet, François |e VerfasserIn |4 aut | |
| 700 | 1 | |a Pochon, Cécile |e VerfasserIn |4 aut | |
| 700 | 1 | |a Guémann, Anne-Sophie |e VerfasserIn |4 aut | |
| 700 | 1 | |a AlSayed, Moeenaldeen |e VerfasserIn |4 aut | |
| 700 | 1 | |a Laktina, Sabine |e VerfasserIn |4 aut | |
| 700 | 1 | |a Uçar, Sema Kalkan |e VerfasserIn |4 aut | |
| 700 | 1 | |a Aksoylar, Serap |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lund, Troy C. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Orchard, Paul John |e VerfasserIn |4 aut | |
| 700 | 1 | |a Eminoğlu, Fatma Tuba |e VerfasserIn |4 aut | |
| 700 | 1 | |a İleri, Talia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kasapkara, Çiğdem Seher |e VerfasserIn |4 aut | |
| 700 | 1 | |a Yeşilipek, Akif |e VerfasserIn |4 aut | |
| 700 | 1 | |a Tuncel, Ali Tunç |d 1988- |e VerfasserIn |0 (DE-588)1075946069 |0 (DE-627)83405728X |0 (DE-576)444773339 |4 aut | |
| 700 | 1 | |a Schulz, Ansgar |e VerfasserIn |4 aut | |
| 700 | 1 | |a Juríčková, Katarína |e VerfasserIn |4 aut | |
| 700 | 1 | |a Hlavatá, Anna |e VerfasserIn |4 aut | |
| 700 | 1 | |a Santoro, Lucia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Magner, Martin |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Journal of inherited metabolic disease |d Hoboken, NJ : Wiley, 1978 |g 48(2025), 4 vom: Juli, Artikel-ID e70047, Seite 1-16 |h Online-Ressource |w (DE-627)320457753 |w (DE-600)2006875-X |w (DE-576)105704652 |x 1573-2665 |7 nnas |a Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis |
| 773 | 1 | 8 | |g volume:48 |g year:2025 |g number:4 |g month:07 |g elocationid:e70047 |g pages:1-16 |g extent:16 |a Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis |
| 787 | 0 | 8 | |i Errata |a Šáhó, Robert |t Correction to “Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis” |d 2025 |w (DE-627)1946242004 |
| 856 | 4 | 0 | |u https://doi.org/10.1002/jimd.70047 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |7 0 |
| 856 | 4 | 0 | |u https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.70047 |x Verlag |z kostenfrei |3 Volltext |7 0 |
| 951 | |a AR | ||
| 992 | |a 20251216 | ||
| 993 | |a Article | ||
| 994 | |a 2025 | ||
| 998 | |g 1075946069 |a Tuncel, Ali Tunç |m 1075946069:Tuncel, Ali Tunç |d 910000 |d 910500 |e 910000PT1075946069 |e 910500PT1075946069 |k 0/910000/ |k 1/910000/910500/ |p 23 | ||
| 999 | |a KXP-PPN1946239305 |e 4829282649 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"type":{"bibl":"article-journal","media":"Online-Ressource"},"origin":[{"dateIssuedKey":"2025","dateIssuedDisp":"23 June 2025"}],"person":[{"given":"Robert","role":"aut","display":"Šáhó, Robert","roleDisplay":"VerfasserIn","family":"Šáhó"},{"family":"Formánková","roleDisplay":"VerfasserIn","display":"Formánková, Renata","role":"aut","given":"Renata"},{"given":"Julie B.","display":"Eisengart, Julie B.","role":"aut","roleDisplay":"VerfasserIn","family":"Eisengart"},{"roleDisplay":"VerfasserIn","family":"Lund","role":"aut","display":"Lund, Allan Meldgaard","given":"Allan Meldgaard"},{"given":"Cecilie","display":"Videbaek, Cecilie","role":"aut","family":"Videbaek","roleDisplay":"VerfasserIn"},{"given":"Berrak Bilginer","display":"Gürbüz, Berrak Bilginer","role":"aut","roleDisplay":"VerfasserIn","family":"Gürbüz"},{"family":"Özbek","roleDisplay":"VerfasserIn","given":"Namık Yaşar","role":"aut","display":"Özbek, Namık Yaşar"},{"display":"Al Jasmi, Fatma","role":"aut","given":"Fatma","roleDisplay":"VerfasserIn","family":"Al Jasmi"},{"role":"aut","display":"Ješina, Pavel","given":"Pavel","family":"Ješina","roleDisplay":"VerfasserIn"},{"given":"François","role":"aut","display":"Feillet, François","roleDisplay":"VerfasserIn","family":"Feillet"},{"family":"Pochon","roleDisplay":"VerfasserIn","display":"Pochon, Cécile","role":"aut","given":"Cécile"},{"given":"Anne-Sophie","display":"Guémann, Anne-Sophie","role":"aut","roleDisplay":"VerfasserIn","family":"Guémann"},{"given":"Moeenaldeen","display":"AlSayed, Moeenaldeen","role":"aut","roleDisplay":"VerfasserIn","family":"AlSayed"},{"family":"Laktina","roleDisplay":"VerfasserIn","given":"Sabine","display":"Laktina, Sabine","role":"aut"},{"given":"Sema Kalkan","display":"Uçar, Sema Kalkan","role":"aut","roleDisplay":"VerfasserIn","family":"Uçar"},{"role":"aut","display":"Aksoylar, Serap","given":"Serap","roleDisplay":"VerfasserIn","family":"Aksoylar"},{"roleDisplay":"VerfasserIn","family":"Lund","display":"Lund, Troy C.","role":"aut","given":"Troy C."},{"display":"Orchard, Paul John","role":"aut","given":"Paul John","family":"Orchard","roleDisplay":"VerfasserIn"},{"roleDisplay":"VerfasserIn","family":"Eminoğlu","given":"Fatma Tuba","display":"Eminoğlu, Fatma Tuba","role":"aut"},{"display":"İleri, Talia","role":"aut","given":"Talia","roleDisplay":"VerfasserIn","family":"İleri"},{"family":"Kasapkara","roleDisplay":"VerfasserIn","display":"Kasapkara, Çiğdem Seher","role":"aut","given":"Çiğdem Seher"},{"family":"Yeşilipek","roleDisplay":"VerfasserIn","role":"aut","display":"Yeşilipek, Akif","given":"Akif"},{"display":"Tuncel, Ali Tunç","role":"aut","given":"Ali Tunç","family":"Tuncel","roleDisplay":"VerfasserIn"},{"given":"Ansgar","display":"Schulz, Ansgar","role":"aut","family":"Schulz","roleDisplay":"VerfasserIn"},{"given":"Katarína","role":"aut","display":"Juríčková, Katarína","roleDisplay":"VerfasserIn","family":"Juríčková"},{"roleDisplay":"VerfasserIn","family":"Hlavatá","display":"Hlavatá, Anna","role":"aut","given":"Anna"},{"roleDisplay":"VerfasserIn","family":"Santoro","display":"Santoro, Lucia","role":"aut","given":"Lucia"},{"given":"Martin","display":"Magner, Martin","role":"aut","family":"Magner","roleDisplay":"VerfasserIn"}],"physDesc":[{"extent":"16 S.","noteIll":"Tabellen"}],"name":{"displayForm":["Robert Šáhó, Renata Formánková, Julie B. Eisengart, Allan Meldgaard Lund, Cecilie Videbaek, Berrak Bilginer Gürbüz, Namık Yaşar Özbek, Fatma Al Jasmi, Pavel Ješina, François Feillet, Cécile Pochon, Anne-Sophie Guémann, Moeenaldeen AlSayed, Sabine Laktina, Sema Kalkan Uçar, Serap Aksoylar, Troy C. Lund, Paul John Orchard, Fatma Tuba Eminoğlu, Talia İleri, Çiğdem Seher Kasapkara, Akif Yeşilipek, Ali Tunç Tuncel, Ansgar Schulz, Katarína Juríčková, Anna Hlavatá, Lucia Santoro, Martin Magner"]},"relHost":[{"language":["eng"],"origin":[{"publisher":"Wiley ; Kluwer ; Springer Science + Business Media B.V","publisherPlace":"Hoboken, NJ ; Dordrecht [u.a.] ; Dordrecht [u.a.]","dateIssuedKey":"1978","dateIssuedDisp":"1978-"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"part":{"pages":"1-16","extent":"16","year":"2025","issue":"4","volume":"48","text":"48(2025), 4 vom: Juli, Artikel-ID e70047, Seite 1-16"},"physDesc":[{"extent":"Online-Ressource"}],"id":{"doi":["10.1002/(ISSN)1573-2665"],"eki":["320457753"],"zdb":["2006875-X"],"issn":["1573-2665"]},"title":[{"title":"Journal of inherited metabolic disease","title_sort":"Journal of inherited metabolic disease","subtitle":"JIMD ; official journal of the Society for the Study of Inborn Errors of Metabolism"}],"note":["Gesehen am 11.03.20","Ungezählte Beil.: Suppl"],"disp":"Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosisJournal of inherited metabolic disease","recId":"320457753","titleAlt":[{"title":"JIMD"}],"pubHistory":["1.1978 -"]}],"id":{"eki":["1946239305"],"doi":["10.1002/jimd.70047"]},"title":[{"title":"Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis","title_sort":"Outcome of haemopoietic stem cell transplantation in 21 patients with alpha-mannosidosis"}],"recId":"1946239305","note":["Gesehen am 16.12.2025"]} | ||
| SRT | |a SAHOROBERTOUTCOMEOFH2320 | ||