TY  - JOUR
AU  - Schoenmakers, Daphne H.
AU  - Mochel, Fanny
AU  - Adang, Laura A.
AU  - Boelens, Jaap-Jan
AU  - Calbi, Valeria
AU  - Eklund, Erik A.
AU  - Grønborg, Sabine W.
AU  - Fumagalli, Francesca
AU  - Groeschel, Samuel
AU  - Lindemans, Caroline
AU  - Sevin, Caroline
AU  - Schöls, Ludger
AU  - Ram, Dipak
AU  - Zerem, Ayelet
AU  - Graessner, Holm
AU  - Wolf, Nicole I.
TI  - Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
JO  - Orphanet journal of rare diseases
VL  - 19
IS  - 1
SN  - 1750-1172
CY  - London
PB  - BioMed Central
M1  - DZNE-2024-00162
SP  - 46
PY  - 2024
AB  - 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
KW  - Humans
KW  - Leukodystrophy, Metachromatic: therapy
KW  - Hematopoietic Stem Cell Transplantation: methods
KW  - Europe
KW  - Magnetic Resonance Imaging
KW  - Consensus
KW  - Europe (Other)
KW  - Healthcare disparities (Other)
KW  - Hematopoietic stem cell transplantation (Other)
KW  - Leukodystrophy, Metachromatic (Other)
KW  - Rare diseases (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:38326898
C2  - pmc:PMC10848395
DO  - DOI:10.1186/s13023-024-03075-3
UR  - https://pub.dzne.de/record/267516
ER  -