{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T23:31:00Z","timestamp":1776209460769,"version":"3.50.1"},"reference-count":37,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T00:00:00Z","timestamp":1707264000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T00:00:00Z","timestamp":1707264000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>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.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Of the 30 countries represented by 42 respondents, 23 countries offer HSCT for MLD. The treatment is usually available in 1\u20133 centers per country (18\/23, 78%). Most countries have no or very few MLD patients transplanted during the past 1\u20135 years. The eligibility criteria regarding MLD subtype, motor function, IQ, and MRI largely differ across countries.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>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\u2019 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.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03075-3","type":"journal-article","created":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T08:02:45Z","timestamp":1707292965000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries"],"prefix":"10.1186","volume":"19","author":[{"given":"Daphne H.","family":"Schoenmakers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fanny","family":"Mochel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura A.","family":"Adang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jaap-Jan","family":"Boelens","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Valeria","family":"Calbi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erik A.","family":"Eklund","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabine W.","family":"Gr\u00f8nborg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesca","family":"Fumagalli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Groeschel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Lindemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caroline","family":"Sevin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ludger","family":"Sch\u00f6ls","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dipak","family":"Ram","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ayelet","family":"Zerem","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Holm","family":"Graessner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1721-0728","authenticated-orcid":false,"given":"Nicole I.","family":"Wolf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,2,7]]},"reference":[{"key":"3075_CR1","volume-title":"Metachromatic leukodystrophy. 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All participants gave permission for their survey responses to be used.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"CS is advisor and\/or investigator for clinical trials in Metachromatic Leukodystrophy and other leukodystrophies (Bluebird Bio, Shire\/Takeda, Minoryx Therapeutics, Orchard, Ionis). FF, VC are investigators of hematopoietic stem cell gene therapy clinical trials for MLD sponsored by Orchard Therapeutics, the license holder of investigational medicinal product OTL-200. FF and VC act as consultant for ad hoc Advisory board of Orchard Therapeutics. HG is coordinator of ERN-RND and University Hospital T\u00fcbingen has received funding from the EU for network coordination and management. EAE has participated in Advisory Boards for Orchard Therapeutics. JB is consultant for Omeros, Bluerock, Sanofi, Sobi, Advanced Clinical, Bluebird Bio, SmartImmune and Immusoft. LAA is consultant for Takeda and Orchard Therapeutics. LS is consultant for Vico Therapeutics, participated in a Novartis advisory board and is investigator for Vigil Neuroscience unrelated to MLD and HSCT. NIW is advisor and\/or co-investigator for clinical trials in Metachromatic Leukodystrophy and other leukodystrophies (Shire\/Takeda, Orchard, Ionis, PassageBio, VigilNeuro, Sana Biotech, Lilly), without personal payment. SWG and CL have participated in an Orchard Therapeutics advisory board. SG was supported by DFG grant GR 4688\/2-1 and received institutional research support from Takeda and Orchard. He is advisor and coinvestigator for trials in MLD (Takeda, Orchard) but receives no personal payment related to this role. The other authors (AZ, DHS, DR, FM) have nothing to declare. The following authors are part of the MLD initiative: DHS, FM, LAA, JJB, VC, EAE, SWG, FF, SG,CL, CS, LS, DR, AZ, and NIW.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"46"}}