267516 20240403131603.0 pmid:38326898 pmid 10.1186/s13023-024-03075-3 doi altmetric:159324209 altmetric pmc:PMC10848395 pmc DZNE-2024-00162 English 610 Schoenmakers, Daphne H. 0 Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries London 2024 BioMed Central article DRIVER Output Types/Journal article DataCite Journal Article journal journal PUB:(DE-HGF)16 1708335729_1853 PUB:(DE-HGF) ARTICLE BibTeX JOURNAL_ARTICLE ORCID Journal Article 0 EndNote 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%). Most countries have no or very few MLD patients transplanted during the past 1-5 years. The eligibility criteria regarding MLD subtype, motor function, IQ, and MRI largely differ across countries.HSCT for MLD is available in most European countries, but uncertainties exist in Eastern and South-Eastern Europe. Applied eligibility criteria and management vary and may not align with the latest scientific insights, indicating physicians' struggle in providing evidence-based care. Interaction between local physicians and international experts is crucial for adequate treatment decision-making and cross-border care in the rapidly changing MLD field. 353 - Clinical and Health Care Research (POF4-353) G:(DE-HGF)POF4-353 POF4-353 POF IV 0 Dataset connected to CrossRef, Journals: pub.dzne.de Europe Other Healthcare disparities Other Hematopoietic stem cell transplantation Other Leukodystrophy, Metachromatic Other Rare diseases Other Humans MeSH Leukodystrophy, Metachromatic: therapy MeSH Hematopoietic Stem Cell Transplantation: methods MeSH Europe MeSH Magnetic Resonance Imaging MeSH Consensus MeSH Mochel, Fanny 1 Adang, Laura A. 2 Boelens, Jaap-Jan 3 Calbi, Valeria 4 Eklund, Erik A. 5 Grønborg, Sabine W. 6 Fumagalli, Francesca 7 Groeschel, Samuel 8 Lindemans, Caroline 9 Sevin, Caroline 10 Schöls, Ludger P:(DE-2719)2810795 11 dzne Ram, Dipak 12 Zerem, Ayelet 13 Graessner, Holm 14 Wolf, Nicole I. 0000-0003-1721-0728 15 10.1186/s13023-024-03075-3 Vol. 19, no. 1, p. 46 PERI:(DE-600)2225857-7 1 46 Orphanet journal of rare diseases 19 2024 1750-1172 http://pub.dzne.de/record/267516/files/DZNE-2024-00162%20SUP.docx OpenAccess http://pub.dzne.de/record/267516/files/DZNE-2024-00162.pdf http://pub.dzne.de/record/267516/files/DZNE-2024-00162%20SUP.doc http://pub.dzne.de/record/267516/files/DZNE-2024-00162%20SUP.odt http://pub.dzne.de/record/267516/files/DZNE-2024-00162%20SUP.pdf OpenAccess pdfa http://pub.dzne.de/record/267516/files/DZNE-2024-00162.pdf?subformat=pdfa oai:pub.dzne.de:267516 openaire open_access VDB driver dnbdelivery Deutsches Zentrum für Neurodegenerative Erkrankungen I:(DE-588)1065079516 DZNE 11 P:(DE-2719)2810795 DE-HGF Gesundheit Neurodegenerative Diseases G:(DE-HGF)POF4-350 G:(DE-HGF)POF4-353 G:(DE-HGF)POF4 G:(DE-HGF)POF4-300 G:(DE-HGF)POF Clinical and Health Care Research 0 2024 OpenAccess StatID:(DE-HGF)0510 StatID Creative Commons Attribution CC BY 4.0 LIC:(DE-HGF)CCBY4 HGFVOC DBCoverage StatID:(DE-HGF)0200 StatID SCOPUS 2023-10-25 DBCoverage StatID:(DE-HGF)0300 StatID Medline 2023-10-25 DBCoverage StatID:(DE-HGF)0320 StatID PubMed Central 2023-10-25 DBCoverage StatID:(DE-HGF)0501 StatID DOAJ Seal 2023-05-02T09:07:36Z DBCoverage StatID:(DE-HGF)0500 StatID DOAJ 2023-05-02T09:07:36Z Peer Review StatID:(DE-HGF)0030 StatID DOAJ : Anonymous peer review 2023-05-02T09:07:36Z DBCoverage StatID:(DE-HGF)0600 StatID Ebsco Academic Search 2023-10-25 Peer Review StatID:(DE-HGF)0030 StatID ASC 2023-10-25 DBCoverage StatID:(DE-HGF)0199 StatID Clarivate Analytics Master Journal List 2023-10-25 DBCoverage StatID:(DE-HGF)1050 StatID BIOSIS Previews 2023-10-25 DBCoverage StatID:(DE-HGF)0150 StatID Web of Science Core Collection 2023-10-25 DBCoverage StatID:(DE-HGF)1120 StatID BIOSIS Reviews Reports And Meetings 2023-10-25 I:(DE-2719)5000005 AG Schöls Clinical Neurogenetics 0 journal VDB UNRESTRICTED I:(DE-2719)5000005 FullTexts