Principal Investigator: Hunter Underhill
Keywords: Fabry , MRI Department: Department of Pediatrics
IRB Number: 00092478
Specialty: Pediatric Genetics
Sub Specialties: Medical Genetics
Recruitment Status: Recruiting

Contact Information

Carrie Bailey

Brief Summary


The first hypothesis for this case-control study is that FBFI detects changes in the white matter of patients with Fabry disease that are not present on standard clinical qualitative MR images. Second, task-based and resting-state scMRI and fMRI identify altered neural network activity in patients with Fabry disease. Finally, DTI and FBFI structurally characterize adapted connectivity associated with altered network structure and function.


This revised proposal seeks to integrate quantitative and functional MRI to comprehensively evaluate effects of white matter changes on neuronal connectivity in Fabry disease. The Underhill lab has developed high spatial resolution diffusion tensor imaging (DTI) and FBFI to provide whole-brain characterization of brain circuitry and quantification of individual fiber bundle integrity. The Zielinski lab has pioneered the development of network-level brain organization using functional MRI (fMRI) techniques. The Zielinski lab specifically studies two highly vulnerable yet central large-scale brain networks, namely the Salience Network (includes fronto-insular regions and is thought to integrate socio-emotional stimuli, autonomic responses, and reward processing) and the Default Mode Network (includes angular gyrus, posterior cingulate cortex, and medial prefrontal cortex wherein activity increases during task-free periods and decreases during performance of goal-directed tasks). Utilization of structural covariance MRI (scMR; a technique developed by the Zielinski lab) and fMRI (both task-based and resting-state) enable the determination of ‘connectedness’ of gray matter, revealing both network structure and network function. Combining FLAIR, FBFI, DTI, scMRI and fMRI into a single study will enable us to define and fully characterize the neurobiologic effects of white matter lesions in Fabry disease. 

Inclusion Criteria

For unaffected controls: adults must be 18 or older, be unaffected with Fabry disease, and considered healthy with no previous history of stroke, multiple sclerosis, diabetes mellitus, or other neurologic disease.


For affected subjects with Fabry disease: must be 18 or older and be affected with Fabry disease. 

Exclusion Criteria

Subjects who are claustrophobic, have metal implants, or cannot pass the safety screening questionnaire.