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Updated: Sep 16, 2025
Author Spotlight: Exploring the Lifespan Dynamics of Healthy Human Hematopoiesis
Published on: December 8, 2023
Hematopoietic Stem Cell Transplantation in an International Cohort of Colony Stimulating Factor-1 Receptor
Hemmo A F Yska1,2, Marianne Golse3,4, Shanice Beerepoot2,5
1INSERM U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau, ICM, Paris, France.
Insights
Hematopoietic stem cell transplantation (HSCT) can halt progressive demyelinating Colony Stimulating Factor-1 Receptor (CSF1R)-related disorder (CSF1R-RD). While initial deterioration occurs, patients stabilize or improve within a year post-HSCT.
Area of Science:
- Neurology
- Immunology
- Genetics
Background:
- Colony stimulating factor-1 receptor (CSF1R)-related disorder (CSF1R-RD) is a fatal autosomal dominant demyelinating disease.
- CSF1R is crucial for microglia function, making hematopoietic stem cell transplantation (HSCT) a potential therapeutic strategy.
Purpose of the Study:
- To evaluate clinical, neurocognitive, neuroimaging, and biological outcomes following HSCT in patients with CSF1R-RD.
- To assess the safety and efficacy of HSCT in a multicenter cohort of adult and pediatric patients.
Main Methods:
- An international cohort of 17 adult patients (median age 43.3 years) and one child underwent HSCT across seven centers.
- Patients were monitored for a median of 2.5 years (up to 8 years) using Expanded Disability Scoring Scale (EDSS), neurocognitive tests, Sundal scores, and neurofilament light chain (NfL) levels.
Main Results:
- Two patients died within 6 months due to myeloablative transplantation complications; most survivors initially worsened clinically and radiologically.
- By 12 months post-HSCT, most patients stabilized or improved clinically, with radiological scores stabilizing or slightly improving.
- Plasma/serum NfL levels decreased significantly post-transplantation; reduced-intensity conditioning regimens showed comparable outcomes to myeloablative approaches in adults.
Conclusions:
- HSCT can halt disease progression in CSF1R-RD, despite initial post-transplant deterioration.
- Reduced-intensity conditioning regimens may allow treatment of older patients, expanding therapeutic options.
Background:
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.
Objectives:
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.
Methods:
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.
Results:
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.
Conclusions:
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.
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