Journal Article

DZNE-2025-01151

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor (CSF1R)-Related Disorder.

Yska, H. A. F. ; Golse, M. ; Beerepoot, S. ; Hayer, S.DZNE* ; Bergner, C. ; de Paiva, A. R. B. ; Marelli, C. ; Palacios, N. J. ; Osorio, Y. L. ; Huiban, C. ; Franke, G. ; Wortmann, F. ; Holtick, U. ; Ayrignac, X. ; van der Knaap, M. S. ; Schöls, L.DZNE* ; Perlbarg, V. ; Galanaud, D. ; de Witte, M. A. ; Wolf, N. I. ; Nguyen, S. ; Mochel, F. ; Group, a. t. I. C. W. (Collaboration Author) ; Köhler, W. (Contributor) ; Garcia-Cazorla, A. (Contributor) ; Souchet, L. (Contributor) ; Chaumette, B. (Contributor) ; Blanco, B. (Contributor) ; Barbier, M. (Contributor) ; Stankoff, B. (Contributor) ; Dubessy, A.-L. (Contributor) ; Robert-Varvat, F. (Contributor) ; Riou, A. (Contributor) ; Weber, S. (Contributor) ; Bender, B. (Contributor) ; Fegueux, N. (Contributor) ; Ceballos, P. (Contributor) ; de Champfleur, N. M. (Contributor) ; Lehmann, S. (Contributor) ; Cara-Dallière, C. (Contributor) ; Labauge, P. (Contributor) ; Lindemans, C. (Contributor) ; Freua, F. (Contributor) ; Mariano, L. (Contributor) ; Lucato, L. T. (Contributor) ; Fernandes, G. B. P. (Contributor) ; de Gusmão, C. M. (Contributor) ; Filho, J. U. A. (Contributor) ; Kok, F. (Contributor) ; Turon, L. (Contributor) ; Badell, I. (Contributor) ; Torija, I. L. (Contributor) ; Gomez, M. (Contributor)

2025
Wiley New York, NY

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Please use a persistent id in citations: doi:10.1002/mds.30282

Abstract: Colony stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is an autosomal dominant, rapidly progressive, demyelinating disease leading to death usually within a few years. Because of the central role of CSF1R in microglia functions, allogeneic hematopoietic stem cell transplantation (HSCT) has been suggested as a therapy for CSF1R-RD.To report multicenter clinical (Expanded Disability Scoring Scale [EDSS]), neurocognitive), neuroimaging (Sundal score), and biological (neurofilament light chain [NfL]) outcomes after HSCT in CSF1R-RD.We report an international cohort of 17 adult patients (8 females/9 males, 43.3 ± 9.4 years) who were treated in seven transplant centers. Patients were evaluated for a median of 2.5 years post-HSCT, including one patient with follow-up of 8 years. We also report neurological outcomes of the first child transplanted to date with biallelic CSF1R variants.In the first 6 months post-HSCT, 2 patients died from early complications of myeloablative transplantation, and clinical and radiological severity scores worsened in most surviving adult patients. At 12 months post-HSCT, most patients completely stabilized or improved in certain clinical domains. Radiological scores fully stabilized or slightly improved in all but one of the patients. Plasma/serum NfL sharply decreased in most patients after transplantation. Notably, 7/8 adult patients who received a reduced-intensity conditioning regimen displayed similar neurological outcomes as patients who underwent myeloablative transplantation.After an initial clinical and radiological deterioration in the first 6 months post-transplantation, HSCT can halt disease progression in patients with CSF1R-RD, regardless of their presenting clinical symptoms. The possibility of reduced conditioning regimens in CSF1R-RD opens the way to treat older patients. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Keyword(s): Humans (MeSH) ; Hematopoietic Stem Cell Transplantation: methods (MeSH) ; Male (MeSH) ; Female (MeSH) ; Adult (MeSH) ; Middle Aged (MeSH) ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor: genetics (MeSH) ; Cohort Studies (MeSH) ; Treatment Outcome (MeSH) ; Receptor, Macrophage Colony-Stimulating Factor (MeSH) ; CSF1R‐RD ; adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia ; demyelination ; hematopoietic stem cell transplantation ; neurofilament light chain ; neuroinflammation ; Receptors, Granulocyte-Macrophage Colony-Stimulating Factor ; CSF1R protein, human ; Receptor, Macrophage Colony-Stimulating Factor

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Contributing Institute(s):

1. Cell Biology of Neurological Diseases (AG Jucker)
2. Clinical Neurogenetics (AG Schöls)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)
2. 353 - Clinical and Health Care Research (POF4-353) (POF4-353)

Appears in the scientific report 2025

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Database coverage:
; ; ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; Current Contents - Life Sciences ; DEAL Wiley ; Ebsco Academic Search ; Essential Science Indicators ; IF >= 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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