% IMPORTANT: The following is UTF-8 encoded.  This means that in the presence
% of non-ASCII characters, it will not work with BibTeX 0.99 or older.
% Instead, you should use an up-to-date BibTeX implementation like “bibtex8” or
% “biber”.

@ARTICLE{Schoenmakers:280256,
      author       = {Schoenmakers, Daphne H and Asbreuk, Marije A B C and
                      Martin, Tamara and Datema, Mareen and Beerepoot, Shanice and
                      Inbar-Feigenberg, Michal and Groeschel, Samuel and Kehrer,
                      Christiane and Øberg, Andreas and Sevin, Caroline and
                      Fumagalli, Francesca and Bergner, Caroline G and Vieira,
                      Päivi and Bley, Annette and Uusimaa, Johanna and Horn,
                      Morten Andreas and Brožová, Klára and Stögmann, Eva and
                      Pichler, Herbert and Lüftinger, Roswitha and Eklund, Erik A
                      and Mochel, Fanny and Adang, Laura A and Laugwitz, Lucia and
                      Boelens, Jaap Jan and Calbi, Valeria and Darling, Alejandra
                      and García-Cazorla, Ángeles and Grønborg, Sabine W and
                      Lindemans, Caroline A and van Hasselt, Peter M and Hollak,
                      Carla E M and de Koning, Tom J and Ram, Dipak and Dekker,
                      Hanka and Schöls, Ludger and Zerem, Ayelet and Graessner,
                      Holm and Wolf, Nicole I},
      title        = {{K}ey lessons from the first international treatment
                      eligibility committee: the case of metachromatic
                      leukodystrophy.},
      journal      = {European journal of paediatric neurology},
      volume       = {57},
      issn         = {1090-3798},
      address      = {[Oxford]},
      publisher    = {Elsevier},
      reportid     = {DZNE-2025-00934},
      pages        = {72 - 81},
      year         = {2025},
      abstract     = {Treatment decisions in metachromatic leukodystrophy (MLD),
                      a rare life-threatening neurological disease, are
                      challenging. Hematopoietic stem cell transplantation or
                      autologous stem-cell-based gene therapy can be life-changing
                      but come with uncertainties, risks, and high costs. To
                      address this, the international MLD treatment eligibility
                      panel was established in collaboration with the European
                      Reference Network on Rare Neurological Diseases. The panel
                      reviews and discusses individual MLD cases and provides
                      consensus-based recommendations on whether to treat and
                      which treatment modality. The goal is to streamline
                      international care and treatment counseling by providing
                      uncomplicated access to expert opinion.The panel operates
                      according to a published standard operating procedure and
                      was evaluated between September 2021-2024. Case data were
                      recorded in a Castor EDC-based system and, with consent,
                      included in the MLD Initiative (MLDi) patient registry.
                      Physicians' experiences were assessed via EUsurvey, and
                      patients' feedback was collected through an MLDi registry
                      survey.The panel discussed 43 cases, recommending treatment
                      in 20, abstaining in 19, and reaching no consensus in 4.
                      Open questions regarding cognitive function and lack of
                      outcome data caused challenges in treatment recommendations
                      in late-onset MLD patients. All treatment recommendations
                      were followed. Physicians reported positive experiences with
                      the panel.The MLD treatment eligibility panel demonstrates
                      how international expert advice can be streamlined across
                      Europe for a rare disease like MLD, where disease-specific
                      guidelines are still in development. By balancing complex
                      clinical, social, and ethical parameters, the panel aids in
                      encouraging appropriate use of innovative and costly
                      therapies and guarantees accessibility to expert advice
                      irrespective of country of origin.},
      keywords     = {Humans / Leukodystrophy, Metachromatic: therapy / Male /
                      Child / Female / Registries / Child, Preschool /
                      Hematopoietic Stem Cell Transplantation / Adolescent /
                      Genetic Therapy / Eligibility Determination},
      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:40482356},
      doi          = {10.1016/j.ejpn.2025.05.012},
      url          = {https://pub.dzne.de/record/280256},
}