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

NCT ID: NCT04503213

Last Updated: 2026-01-08

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ENROLLING_BY_INVITATION

Total Enrollment

20 participants

Study Classification

OBSERVATIONAL

Study Start Date

2020-07-21

Study Completion Date

2027-12-31

Brief Summary

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

Detailed Description

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

Conditions

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CSF1R-related Leukoencephalopathy ALSP POLD Hematopoietic Stem Cell Transplantation

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

PROSPECTIVE

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Mayo Clinic

OTHER

Sponsor Role lead

Responsible Party

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Zbigniew K. Wszolek

Principal Investigator

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Zbigniew K Wszolek, MD

Role: PRINCIPAL_INVESTIGATOR

Mayo Clinic

Locations

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Mayo Clinic in Florida

Jacksonville, Florida, United States

Site Status

Countries

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United States

Related Links

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Other Identifiers

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20-006124

Identifier Type: -

Identifier Source: org_study_id

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