A Study to Assess CSF1R-related Leukoencephalopathy After Stem Cell Transplantation

Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation

The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.

The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.

Inclusion Criteria:

• ≥ 18 years of age.
• Genetic confirmation of a mutation in the CSF1R gene.
• Diagnosis of CSF1R-related leukoencephalopathy.
• Anticipated to undergo haematopoietic stem cell transplantation (HSCT).

Exclusion Criteria:

• Concurrent diagnoses that may confound neuropsychological testing; e.g., major hearing/visual impairment.
• Concurrent diagnoses that may confound ambulatory measurements; e.g., amputee.
• Inability to undergo magnetic resonance imaging (MRI); e.g., MR-incompatible implant.