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000280256 037__ $$aDZNE-2025-00934
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000280256 1001_ $$aSchoenmakers, Daphne H$$b0
000280256 245__ $$aKey lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
000280256 260__ $$a[Oxford]$$bElsevier$$c2025
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000280256 520__ $$aTreatment 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.
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000280256 650_2 $$2MeSH$$aHumans
000280256 650_2 $$2MeSH$$aLeukodystrophy, Metachromatic: therapy
000280256 650_2 $$2MeSH$$aMale
000280256 650_2 $$2MeSH$$aChild
000280256 650_2 $$2MeSH$$aFemale
000280256 650_2 $$2MeSH$$aRegistries
000280256 650_2 $$2MeSH$$aChild, Preschool
000280256 650_2 $$2MeSH$$aHematopoietic Stem Cell Transplantation
000280256 650_2 $$2MeSH$$aAdolescent
000280256 650_2 $$2MeSH$$aGenetic Therapy
000280256 650_2 $$2MeSH$$aEligibility Determination
000280256 7001_ $$aAsbreuk, Marije A B C$$b1
000280256 7001_ $$aMartin, Tamara$$b2
000280256 7001_ $$aDatema, Mareen$$b3
000280256 7001_ $$aBeerepoot, Shanice$$b4
000280256 7001_ $$aInbar-Feigenberg, Michal$$b5
000280256 7001_ $$aGroeschel, Samuel$$b6
000280256 7001_ $$aKehrer, Christiane$$b7
000280256 7001_ $$aØberg, Andreas$$b8
000280256 7001_ $$aSevin, Caroline$$b9
000280256 7001_ $$aFumagalli, Francesca$$b10
000280256 7001_ $$aBergner, Caroline G$$b11
000280256 7001_ $$aVieira, Päivi$$b12
000280256 7001_ $$aBley, Annette$$b13
000280256 7001_ $$aUusimaa, Johanna$$b14
000280256 7001_ $$aHorn, Morten Andreas$$b15
000280256 7001_ $$aBrožová, Klára$$b16
000280256 7001_ $$aStögmann, Eva$$b17
000280256 7001_ $$aPichler, Herbert$$b18
000280256 7001_ $$aLüftinger, Roswitha$$b19
000280256 7001_ $$aEklund, Erik A$$b20
000280256 7001_ $$aMochel, Fanny$$b21
000280256 7001_ $$aAdang, Laura A$$b22
000280256 7001_ $$aLaugwitz, Lucia$$b23
000280256 7001_ $$aBoelens, Jaap Jan$$b24
000280256 7001_ $$aCalbi, Valeria$$b25
000280256 7001_ $$aDarling, Alejandra$$b26
000280256 7001_ $$aGarcía-Cazorla, Ángeles$$b27
000280256 7001_ $$aGrønborg, Sabine W$$b28
000280256 7001_ $$aLindemans, Caroline A$$b29
000280256 7001_ $$avan Hasselt, Peter M$$b30
000280256 7001_ $$aHollak, Carla E M$$b31
000280256 7001_ $$ade Koning, Tom J$$b32
000280256 7001_ $$aRam, Dipak$$b33
000280256 7001_ $$aDekker, Hanka$$b34
000280256 7001_ $$0P:(DE-2719)2810795$$aSchöls, Ludger$$b35$$udzne
000280256 7001_ $$aZerem, Ayelet$$b36
000280256 7001_ $$aGraessner, Holm$$b37
000280256 7001_ $$aWolf, Nicole I$$b38
000280256 773__ $$0PERI:(DE-600)2009085-7$$a10.1016/j.ejpn.2025.05.012$$gVol. 57, p. 72 - 81$$p72 - 81$$tEuropean journal of paediatric neurology$$v57$$x1090-3798$$y2025
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