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Enrolling by Invitation

NCT Number: NCT04503213

A Study to Assess CSF1R-related Leukoencephalopathy After 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.

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Key information

Conditions

CSF1R-related Leukoencephalopathy ALSP Brain Diseases Central Nervous System Diseases Hematopoietic Stem Cell Transplantation Hereditary Diffuse Leukoencephalopathy with Spheroids Leukoencephalopathies Nervous System Diseases POLD

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Mayo Clinic in Florida

Jacksonville, Florida, 32224, United States

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  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.

Sponsors and collaborators

Lead sponsor

Mayo Clinic

Other

Registry information

Official study title

Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation

Important dates

Study start
2020
Primary completion
2027
Study completion
2027
First posted
Aug 7, 2020
Registry last updated
Jan 8, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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