Fabry Disease
Conditions
Keywords
fabry, MRI (Magnetic resonance imaging), Fabry brain lesions
Brief summary
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
Detailed description
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.
Interventions
OTHERFunctional MRI and fast bound-pool fraction imaging
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, we would like to use functional MRI (fMRI) to study how these lesions alter brain function and connectivity in FD. Neuropsychological assessements will include Wechsler Adult Intelligence Scale, WAIS-III (Digit Span, Symbol-Digit/Coding, and Symbol Search), the Connors Continous Performance text (CPT-II). The Health Questionnaire form, the Center for Epidemiologic Studies Depression Scale (CES-D), the RAND 36-Item Health Survey.
Sponsors
Genzyme, a Sanofi Company
University of Utah
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Intervention model description
20 patients with Fabry and 20 unaffected
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
Inclusion criteria
Fabry Cohort Inclusion Criteria: * Have Fabry Disease * Must be 18yrs or older
Exclusion criteria
* Subjects who are claustrophobic * have metal implants * Cannot pass the MRI safety screening questionnaire. Unaffected Controls 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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| use FBFI and fMRI to map | 6 months after enrollment closes | together to map altered connectivity in response to brain lesions |
| FBFI MRI using advanced MRI technique | 6 months after enrollment closes | advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD |
| Identify difference between patients with Fabry disease and healthy controls in brain function as measured and quantified by functional MRI | 6 months after enrollment closes | identify altered brain function |
Countries
United States
Outcome results
None listed