A Study to Assess CSF1R-related Leukoencephalopathy After Stem Cell Transplantation
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: CSF1R-related Leukoencephalopathy, ALSP, POLD, Hematopoietic Stem Cell Transplantation. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation
Overview
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.
Primary outcome measures
- Improvement in cognitive and motor function [Time frame: Through study completion, approximately 5 years]
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
United States · 1 center
- Mayo Clinic in Florida — Jacksonville
Identifiers
NCT: NCT04503213 · 20-006124