Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease

  • End date
    Jul 30, 2022
  • participants needed
  • sponsor
    University of Utah
Updated on 10 March 2021
functional mri


The purpose of this research project is:

  • to use an advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD
  • to use fMRI to identify altered brain function
  • to use FBFI and fMRI together to map altered connectivity in response to brain lesions


Fabry disease (FD) is a lysosomal storage disease caused by a deficiency in an enzyme that degrades components of the outer cell wall. A deficiency of this enzyme in humans has been associated with stroke. In males with FD, 6.9% have a stroke by 39 years of age. In females with FD, 4.3% have a stroke by 46 years of age.

Magnetic resonance imaging (MRI) is the main tool for studying stroke in FD. Importantly, MRI has identified other types of lesions in the brain beyond that caused by stroke. These additional lesions may herald stroke or be a different manifestation of FD in the brain. These lesions are seen in >50% of men and women with FD.

Diffusion-based imaging MRI has been the leading approach for studying these lesions in FD. However, these lesions that appear to be specific to FD are difficult to quantify, analyze, and interpret using this and other current MRI methods. The Investigators would like to use a form of MRI called fast bound-pool fraction imaging (FBFI), which is a technique better suited to capture and quantify these lesions, to study these lesions in patients with FD. In parallel, the investigators would like to use functional MRI (fMRI) to study how these lesions alter brain function and connectivity in FD. The combination of these techniques (FBFI + fMRI) will also provide us the opportunity to study brain plasticity in response to injury as Fabry disease is slowly progressive over decades allowing the brain to remodel connections to maintain function.

Condition Fabry's Disease, Fabry Disease, Fabry Disease
Treatment Functional MRI and fast bound-pool fraction imaging
Clinical Study IdentifierNCT03678324
SponsorUniversity of Utah
Last Modified on10 March 2021


Yes No Not Sure

Inclusion Criteria

Must be 18yrs or older
unaffected with Fabry Disease
considered healthy with no previous history of stroke, multiple sclerosis, diabetes mellitus, or other neurologic disease

Exclusion Criteria

Subjects who are claustrophobic
have metal implants
Cannot pass the MRI safety screening questionnaire
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