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Open Access 01-12-2022 | Anakinra | Research article

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency

Authors: Jerold Jeyaratnam, Maura Faraci, Andrew R. Gennery, Katarzyna Drabko, Mattia Algeri, Akira Morimoto, Tiarlan Sirait, Arjan C. Lankester, Michael Albert, Benedicte Neven, Joost Frenkel, on behalf of the EBMT Inborn Errors Working Party

Published in: Pediatric Rheumatology | Issue 1/2022

Abstract

Objectives

Mevalonate kinase deficiency (MKD) is a rare autoinflammatory syndrome. Several reports have described allogeneic hematopoietic stem cell transplantation in severely affected patients, sometimes with promising results. In view of the scarcity of data, this study aims to analyse the efficacy and safety of allogeneic hematopoietic stem cell transplantation (HSCT) to give a more complete overview of this treatment.

Methods

This multicentre retrospective study on behalf of the European Society for Blood and Marrow Transplantation aimed to include all MKD patients who had undergone allogeneic HSCT. All centres related to EMBT and centres that have reported cases of allogeneic HSCT in the literature were contacted via the EBMT data office.

Results

We analyzed 9 patients (5 male). Treosulfan based conditioning was the most frequently used conditioning regimen. Engraftment occurred in all but one patient. Source of stem cells was cord blood (n = 2), peripheral blood stem cells (n = 4) and bone marrow (n = 5). Two patients needed a second transplantation due to an incomplete response or primary graft failure. Seven patients went into complete remission after stem cell transplantation. At final follow-up these patients reported no symptoms of MKD.

Four patients suffered from grade II-IV acute graft-versus-host disease (GvHD). During follow-up two patients died due to transplantation related complications.

Conclusion

In conclusion, allogeneic stem cell transplantation represents an effective treatment for the most severely affected MKD patients. However, treatment-related morbidity and mortality are significant. Transplantation may be justified in patients with a severe disease course on conservative therapy.

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Title: The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency
Authors: Jerold Jeyaratnam
Maura Faraci
Andrew R. Gennery
Katarzyna Drabko
Mattia Algeri
Akira Morimoto
Tiarlan Sirait
Arjan C. Lankester
Michael Albert
Benedicte Neven
Joost Frenkel
on behalf of the EBMT Inborn Errors Working Party
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Anakinra
Graft-Versus-Host Disease
Graft-Versus-Host Disease
Stem Cell Transplantation
Stem Cell Transplantion
Stem Cell Transplantation
Published in: Pediatric Rheumatology / Issue 1/2022
Electronic ISSN: 1546-0096
DOI: https://doi.org/10.1186/s12969-022-00716-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

The efficacy and safety of allogeneic stem cell transplantation in Mevalonate Kinase Deficiency

Abstract

Objectives

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objectives

Methods

Results

Conclusion

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