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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT04503213
Recruitment Status : Enrolling by invitation
First Posted : August 7, 2020
Last Update Posted : December 8, 2021
Information provided by (Responsible Party):
Zbigniew K. Wszolek, Mayo Clinic

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

Condition or disease
CSF1R-related Leukoencephalopathy ALSP POLD Hematopoietic Stem Cell Transplantation

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Study Type : Observational
Estimated Enrollment : 20 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation
Actual Study Start Date : July 21, 2020
Estimated Primary Completion Date : December 30, 2025
Estimated Study Completion Date : December 30, 2026

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-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).

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT04503213

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United States, Florida
Mayo Clinic in Florida
Jacksonville, Florida, United States, 32224
Sponsors and Collaborators
Mayo Clinic
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Principal Investigator: Zbigniew K Wszolek, MD Mayo Clinic
Additional Information:
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Responsible Party: Zbigniew K. Wszolek, Principal Investigator, Mayo Clinic Identifier: NCT04503213    
Other Study ID Numbers: 20-006124
First Posted: August 7, 2020    Key Record Dates
Last Update Posted: December 8, 2021
Last Verified: December 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Zbigniew K. Wszolek, Mayo Clinic:
HDLS, Leukoencephalopathy
Additional relevant MeSH terms:
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Brain Diseases
Central Nervous System Diseases
Nervous System Diseases