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

• Conditions: CSF1R-related Leukoencephalopathy; ALSP; POLD; Hematopoietic Stem Cell Transplantation

• Registration Number: NCT04503213
• Lead Sponsor: 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.

Detailed Description

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

Study Timeline

• Study Start: 2020-07-21
• Study First Submitted: 2020-08-04
• Study First Submitted QC: 2020-08-04
• Study First Posted: 2020-08-07
• Status Verified: 2024-09
• Last Update Submitted: 2024-09-30
• Last Update Posted: 2024-10-02
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 20

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).

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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.

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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Improvement in cognitive and motor function	Through study completion, approximately 5 years	Number of participants to demonstrate stability/improvements in cognitive and motor function by detailed clinical assessment and radiographic markers of disease.

Trial Locations

Locations (1)

Mayo Clinic in Florida; 🇺🇸 Jacksonville, Florida, United States