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Hematopoietic Stem Cell Transplantation for CSF1R-Related Disorder: A Longitudinal Study of Efficacy and Safety
Tomasz Tomasz1,2, Kamila Żur-Wyrozumska3,4,5, Patrycja Mensah-Glanowska6
1Department of Neurology, Mayo Clinic Florida, Jacksonville, USA.
Insights
Hematopoietic stem cell transplantation (HSCT) significantly slows CSF1R-RD progression, reducing cognitive decline and radiological deterioration. This therapy drastically improves survival rates in patients with CSF1R-related disorders.
Area of Science:
- Neurology
- Hematology
- Immunology
Background:
- Colony-stimulating factor 1 receptor (CSF1R)-related disorders (CSF1R-RD) are progressive neurodegenerative conditions.
- Current treatment options for CSF1R-RD are limited, with a significant impact on patient quality of life.
Purpose of the Study:
- To evaluate the long-term efficacy and safety of hematopoietic stem cell transplantation (HSCT) in slowing the progression of CSF1R-RD.
- To compare clinical, cognitive, and radiological outcomes in HSCT-treated patients versus untreated controls.
Main Methods:
- A longitudinal study involving six symptomatic CSF1R-RD patients undergoing HSCT and six matched untreated controls.
- Long-term follow-up (mean 6.59 years) assessing the CSF1R-Clinical Severity Score (CCSS), Montreal Cognitive Assessment (MoCA), and Sundal radiological scores.
Main Results:
- HSCT significantly slowed clinical progression (14.1 to 3.7 CCSS/year vs. 15.2 CCSS/year in controls, p<0.01).
- Cognitive decline was substantially reduced (-1.5 vs. -7.6 points/year) and radiological deterioration slowed (0.37 vs. 3.9 per year).
- All HSCT patients survived, contrasting with 50% mortality in the control group, with no serious transplant-related complications.
Conclusions:
- HSCT demonstrates potent disease-modifying capabilities for CSF1R-RD, markedly enhancing survival and decelerating disease progression.
- Early HSCT intervention during the symptomatic phase is crucial for preserving patient quality of life.
Objective:
This longitudinal study evaluated the long-term efficacy and safety of hematopoietic stem cell transplantation (HSCT) in slowing the progression of CSF1R-related disorder (CSF1R-RD).
Methods:
Six symptomatic patients (mean follow-up, 6.6 years) were compared with six matched, untreated controls. The CSF1R Clinical Severity Score (CCSS), Montreal Cognitive Assessment, and Sundal radiological score were used for evaluation.
Results:
Post-HSCT clinical progression slowed significantly from 14.1 to 3.7 CCSS/year, compared with 15.2 CCSS/year in the control group (p<0.01). Cognitive decline was substantially reduced (-1.5 points/year vs. -7.6 points/year), and radiological deterioration slowed (0.4 per year vs. 3.9 per year). Notably, during the observation period, all HSCT patients survived, whereas 50% of the patients in the control group died. No serious transplant-related complications were observed.
Conclusion:
HSCT is a potent disease-modifying therapy for CSF1R-RD that drastically improves survival and slows deterioration. These findings underscore the necessity of early intervention during the symptomatic phase to maximize the preservation of quality of life for affected individuals.
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