CSF1R-related LeukoencephalopathyNCT04503213
A Study to Assess CSF1R-related Leukoencephalopathy After Stem Cell Transplantation
An observational study of CSF1R-related Leukoencephalopathy and ALSP, run by Mayo Clinic at 1 site in United States.
Trial summary
The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- CSF1R-related Leukoencephalopathy, ALSP, POLD
- How many people
- 20 participants
- Where
- 1 siteUnited States
- Study dates
- 21 Jul 2020to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Subjects will be identified through the Mayo Clinic Florida Neurology and/or Hematology Departments. Qualifying individuals will be identified on the basis of a genetically-confirmed diagnosis of CSF1R-related leukoencephalopathy and a tentative treatment plan including haematopoietic stem cell transplantation (HSCT).
Who may be able to join
- ≥ 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).
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation
The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.
Read the detailed description
The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.
- Keywords
- HDLS, Leukoencephalopathy
- Medical subject headings
- Hereditary Diffuse Leukoencephalopathy with Spheroids, Leukoencephalopathies
What is being measured
The primary outcome is the main question the study is designed to answer.
Improvement in cognitive and motor function
Number of participants to demonstrate stability/improvements in cognitive and motor function by detailed clinical assessment and radiographic markers of disease.
Measured: Through study completion, approximately 5 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Aug 2020
- Study start21 Jul 2020
- Primary completionDec 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for CSF1R-related LeukoencephalopathyStudies of the same condition, open and under way.
- More trials run by Mayo ClinicThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Mayo Clinic
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Zbigniew K. Wszolek, Mayo Clinic
- Investigators
- Zbigniew K Wszolek, MD, Principal investigator, Mayo Clinic
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04503213
- Sponsor's protocol ID
- 20-006124
- Status last verified
- Jan 2026
- First submitted
- 4 Aug 2020
- Last updated
- 8 Jan 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 8 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation
- ClinicalTrials.gov ID
- NCT04503213
- Acronym / sponsor ID
- 20-006124
- Keywords
- HDLS, Leukoencephalopathy
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Mayo ClinicUniversity, hospital or other
- Study start
- 21 Jul 2020 (actual)
- Primary completion
- Dec 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 7 Aug 2020 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Subjects will be identified through the Mayo Clinic Florida Neurology and/or Hematology Departments. Qualifying individuals will be identified on the basis of a genetically-confirmed diagnosis of CSF1R-related leukoencephalopathy and a tentative treatment plan including haematopoietic stem cell transplantation (HSCT).
Key inclusion criteria (4 listed)
- ≥ 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).
Key exclusion criteria (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Improvement in cognitive and motor function
Time frame: 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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Jan 2026.
- Mayo Clinic Clinical TrialsLink provided by the sponsor.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Zbigniew K Wszolek, MD principal investigator
Mayo Clinic
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of CSF1R-related Leukoencephalopathy and ALSP, run by Mayo Clinic at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 8 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Improvement in cognitive and motor function (time frame: Through study completion, approximately 5 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Jan 2026.