A Study to Assess CSF1R-related Leukoencephalopathy After... | NCT04503213

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

NCT04503213

Sponsor

Mayo Clinic

Status

Enrolling by invitation

Last Update Posted

Jan 8, 2026Actual

Enrollment

20Estimated

Phase

Not provided

Conditions

CSF1R-related Leukoencephalopathy
ALSP
POLD
Hematopoietic Stem Cell Transplantation

Interventions

Not provided

Countries

United States

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jan 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jul 21, 2020Actual

Primary Completion Date

Dec 2027Estimated

Completion Date

Dec 2027Estimated

First Submitted Date

Aug 4, 2020

First Submission Date that Met QC Criteria

Aug 4, 2020

First Posted Date

Aug 7, 2020Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jan 6, 2026

Last Update Posted Date

Jan 8, 2026Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

No data available

No data is available for this block.

Enrollment

20Estimated

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
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.	Through study completion, approximately 5 years

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder 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).

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Zbigniew K Wszolek, MD	Mayo Clinic	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Mayo Clinic in Florida		Jacksonville	Florida	32224	United States

Label	URL
Mayo Clinic Clinical Trials	View source

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
C580150	Hereditary Diffuse Leukoencephalopathy with Spheroids
D056784	Leukoencephalopathies

Ancestor Terms

ID	Term
D001927	Brain Diseases
D002493	Central Nervous System Diseases
D009422	Nervous System Diseases

Browse Leaves

Not provided

Browse Branches

Not provided