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

Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation


Lead Sponsor: Mayo Clinic

Source Mayo Clinic
Brief Summary

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

Overall Status Enrolling by invitation
Start Date September 1, 2020
Completion Date December 30, 2026
Primary Completion Date December 30, 2025
Study Type Observational
Primary Outcome
Measure Time Frame
Improvement in cognitive and motor function Through study completion, approximately 5 years
Enrollment 20

Sampling Method: Non-Probability Sample


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.

Gender: All

Minimum Age: 18 Years

Maximum Age: N/A

Healthy Volunteers: No

Overall Official
Last Name Role Affiliation
Zbigniew K Wszolek, MD Principal Investigator Mayo Clinic
Facility: Mayo Clinic in Florida
Location Countries

United States

Verification Date

August 2020

Responsible Party

Type: Principal Investigator

Investigator Affiliation: Mayo Clinic

Investigator Full Name: Zbigniew K. Wszolek

Investigator Title: Principal Investigator

Has Expanded Access No
Condition Browse
Patient Data No
Study Design Info

Observational Model: Case-Only

Time Perspective: Prospective

Source: ClinicalTrials.gov