%0 Journal Article
%A Schoenmakers, Daphne H.
%A Mochel, Fanny
%A Adang, Laura A.
%A Boelens, Jaap-Jan
%A Calbi, Valeria
%A Eklund, Erik A.
%A Grønborg, Sabine W.
%A Fumagalli, Francesca
%A Groeschel, Samuel
%A Lindemans, Caroline
%A Sevin, Caroline
%A Schöls, Ludger
%A Ram, Dipak
%A Zerem, Ayelet
%A Graessner, Holm
%A Wolf, Nicole I.
%T Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
%J Orphanet journal of rare diseases
%V 19
%N 1
%@ 1750-1172
%C London
%I BioMed Central
%M DZNE-2024-00162
%P 46
%D 2024
%X For decades, early allogeneic stem cell transplantation (HSCT) has been used to slow neurological decline in metachromatic leukodystrophy (MLD). There is lack of consensus regarding who may benefit, and guidelines are lacking. Clinical practice relies on limited literature and expert opinions. The European Reference Network for Rare Neurological Diseases (ERN-RND) and the MLD initiative facilitate expert panels for treatment advice, but some countries are underrepresented. This study explores organizational and clinical HSCT practices for MLD in Europe and neighboring countries to enhance optimization and harmonization of cross-border MLD care.A web-based EUSurvey was distributed through the ERN-RND and the European Society for Blood and Marrow Transplantation Inborn Errors Working Party. Personal invitations were sent to 89 physicians (43 countries) with neurological/metabolic/hematological expertise. The results were analyzed and visualized using Microsoft Excel and IBM SPSS statistics.Of the 30 countries represented by 42 respondents, 23 countries offer HSCT for MLD. The treatment is usually available in 1-3 centers per country (18/23, 78
%K Humans
%K Leukodystrophy, Metachromatic: therapy
%K Hematopoietic Stem Cell Transplantation: methods
%K Europe
%K Magnetic Resonance Imaging
%K Consensus
%K Europe (Other)
%K Healthcare disparities (Other)
%K Hematopoietic stem cell transplantation (Other)
%K Leukodystrophy, Metachromatic (Other)
%K Rare diseases (Other)
%F PUB:(DE-HGF)16
%9 Journal Article
%$ pmid:38326898
%2 pmc:PMC10848395
%R 10.1186/s13023-024-03075-3
%U https://pub.dzne.de/record/267516