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@ARTICLE{Schoenmakers:267516,
      author       = {Schoenmakers, Daphne H. and Mochel, Fanny and Adang, Laura
                      A. and Boelens, Jaap-Jan and Calbi, Valeria and Eklund, Erik
                      A. and Grønborg, Sabine W. and Fumagalli, Francesca and
                      Groeschel, Samuel and Lindemans, Caroline and Sevin,
                      Caroline and Schöls, Ludger and Ram, Dipak and Zerem,
                      Ayelet and Graessner, Holm and Wolf, Nicole I.},
      title        = {{I}nventory of current practices regarding hematopoietic
                      stem cell transplantation in metachromatic leukodystrophy in
                      {E}urope and neighboring countries},
      journal      = {Orphanet journal of rare diseases},
      volume       = {19},
      number       = {1},
      issn         = {1750-1172},
      address      = {London},
      publisher    = {BioMed Central},
      reportid     = {DZNE-2024-00162},
      pages        = {46},
      year         = {2024},
      abstract     = {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.},
      keywords     = {Humans / Leukodystrophy, Metachromatic: therapy /
                      Hematopoietic Stem Cell Transplantation: methods / Europe /
                      Magnetic Resonance Imaging / Consensus / Europe (Other) /
                      Healthcare disparities (Other) / Hematopoietic stem cell
                      transplantation (Other) / Leukodystrophy, Metachromatic
                      (Other) / Rare diseases (Other)},
      cin          = {AG Schöls},
      ddc          = {610},
      cid          = {I:(DE-2719)5000005},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:38326898},
      pmc          = {pmc:PMC10848395},
      doi          = {10.1186/s13023-024-03075-3},
      url          = {https://pub.dzne.de/record/267516},
}