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Treatment of CSF1R-Related Leukoencephalopathy: Breaking New Ground
Philip W Tipton1, Daniel Kenney-Jung2, Beth K Rush3
1Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
Insights
Hematopoietic stem cell transplantation (HSCT) may stabilize Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy. This study found 6 of 7 patients showed improved motor, cognitive, or MRI outcomes after HSCT, suggesting it as a potential disease-modifying therapy.
Area of Science:
- Neuroscience
- Immunology
- Genetics
Background:
- Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy is a severe, progressive neurodegenerative disease with no current cure.
- Hematopoietic stem cell transplantation (HSCT) is being explored as a potential disease-modifying treatment for CSF1R-related leukoencephalopathy.
Purpose of the Study:
- To evaluate the impact of HSCT on the progression of CSF1R-related leukoencephalopathy.
- To assess the safety and efficacy of HSCT in a cohort of patients with this rare neurological disorder.
Main Methods:
- A retrospective analysis of clinical data from 7 patients with CSF1R-related leukoencephalopathy who underwent HSCT.
- Data collection included neurological examinations, cognitive assessments, neuropsychological evaluations, and serial brain MRI.
Main Results:
- One patient died peri-procedurally; the remaining 6 patients demonstrated stabilization in motor function, cognitive scores, and/or MRI-detected white matter lesions.
- The study reports the largest series of CSF1R-related leukoencephalopathy patients treated with HSCT, with a median follow-up of 11 months.
Conclusions:
- HSCT can stabilize CSF1R-related leukoencephalopathy in a subset of patients, representing the first potential disease-modifying therapy.
- Patient response variability highlights the need to consider disease heterogeneity and severity when selecting candidates for HSCT.
- This research provides a foundation for understanding disease mechanisms and developing targeted therapies for CSF1R-related leukoencephalopathy.
Background:
Colony-stimulating factor-1 receptor (CSF1R)-related leukoencephalopathy is a rapidly progressive neurodegenerative disease for which there is currently no cure. Hematopoietic stem cell transplantation (HSCT) has been proposed as a disease-modifying treatment.
Objective:
The objective of this study was to determine the effect of HSCT on disease progression.
Methods:
We collected all available clinical data from a cohort of 7 patients with CSF1R-related leukoencephalopathy who underwent HSCT at our institutions. Clinical data included detailed neurological examination by a board-certified neurologist, serial cognitive screens, formal neuropsychological evaluations, and serial brain magnetic resonance imaging (MRI).
Results:
Our patients had an average disease duration of 27.6 months at the time of transplant, and we have 87 months of total posttransplant follow-up time (median, 11; range, 2-27). One patient died in the periprocedural period. The remaining patients showed a variable response to treatment, with 6 of 7 patients trending toward stabilization on motor examination, cognitive scores, and/or MRI abnormalities, especially with white matter lesion burden.
Conclusions:
This is the largest series of patients with CSF1R-related leukoencephalopathy receiving HSCT. We conclude that HSCT can stabilize the disease in some patients. Variability in patient responsiveness suggests that measures of disease heterogeneity and severity need to be considered when evaluating a patient's candidacy for transplant. HSCT appears to be the first disease-modifying therapy for CSF1R-related leukoencephalopathy. This milestone may serve as a foothold toward better understanding the disease's pathomechanism, thus providing new opportunities for better disease-specific therapies. © 2021 International Parkinson and Movement Disorder Society.
