NCT04503213

Brief Summary

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

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
16mo left

Started Jul 2020

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress82%
Jul 2020Dec 2027

Study Start

First participant enrolled

July 21, 2020

Completed
14 days until next milestone

First Submitted

Initial submission to the registry

August 4, 2020

Completed
3 days until next milestone

First Posted

Study publicly available on registry

August 7, 2020

Completed
7.3 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2027

Expected
Same day until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2027

Last Updated

January 8, 2026

Status Verified

January 1, 2026

Enrollment Period

7.4 years

First QC Date

August 4, 2020

Last Update Submit

January 6, 2026

Conditions

ALSPPOLDHematopoietic Stem Cell TransplantationCSF1R-related Leukoencephalopathy

Keywords

HDLS, Leukoencephalopathy

Outcome Measures

Primary Outcomes (1)

  • 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

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
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).

You may qualify if:

  • ≥ 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).

You may not qualify if:

  • 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.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Mayo Clinic in Florida

Jacksonville, Florida, 32224, United States

Location

Related Links

MeSH Terms

Conditions

Hereditary Diffuse Leukoencephalopathy with SpheroidsLeukoencephalopathies

Condition Hierarchy (Ancestors)

Brain DiseasesCentral Nervous System DiseasesNervous System Diseases

Study Officials

  • Zbigniew K Wszolek, MD

    Mayo Clinic

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Principal Investigator

Study Record Dates

First Submitted

August 4, 2020

First Posted

August 7, 2020

Study Start

July 21, 2020

Primary Completion (Estimated)

December 1, 2027

Study Completion (Estimated)

December 1, 2027

Last Updated

January 8, 2026

Record last verified: 2026-01

Data Sharing

IPD Sharing
Will not share

Locations

US(1)