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Observational Study of HSCT for CSF1R-related Leukoencephalopathy

This study is looking at how hematopoietic stem cell transplantation (HSCT), a type of stem cell transplant, affects people with CSF1R-related leukoencephalopathy. This condition is a brain disorder caused by a change in the CSF1R gene. Researchers want to see if HSCT can improve symptoms like problems with thinking and movement. You might be able to join if you are 18 or older, have a confirmed CSF1R gene mutation, have CSF1R-related leukoencephalopathy, and are planning to have an HSCT. The study will consider HSCT successful if it leads to improvements in your cognitive (thinking) and motor (movement) abilities over about five years. The current enrollment status is unclear.

Study design
This is an observational study, meaning researchers will watch and collect information without giving a specific treatment. It plans to include 20 participants.
What's involved
Not specified in the trial record.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed through study completion, which is approximately 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT04503213

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

Enrolling by Invitation
Not specifiedAges 18+Observational
Mayo Clinic
~20 participants
Updated 2026-01-08 on ClinicalTrials.gov

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Improvement in cognitive and motor function
Measured over Through study completion, approximately 5 years

Conditions

CSF1R-related Leukoencephalopathy
ALSP
POLD
Hematopoietic Stem Cell Transplantation

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Leukoencephalopathy with AtaxiaCSF1R Gene

Where it's being run

1 sites across 1 states
Florida1

Study leadership

  • Zbigniew K Wszolek, MD · PRINCIPAL_INVESTIGATOR · Mayo Clinic

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

≥ 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

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.

What this trial measures

  • Improvement in cognitive and motor functionThrough 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.