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

Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation

Status

Enrolling by invitation

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT04503213

Enrollment

Registered

2020-08-07

Start date

2020-07-21

Completion date

2027-12-31

Last updated

2026-01-08

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

ALSP, CSF1R-related Leukoencephalopathy, Hematopoietic Stem Cell Transplantation, POLD

Keywords

HDLS, Leukoencephalopathy

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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.

Design outcomes

Primary

Measure	Time frame	Description
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.

Countries

United States

Outcome results