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

Fabry Disease Clinical Trial

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

Status Completed

Clinical Trial 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

Clinical Trial 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. ;

Related Conditions & MeSH terms

• Fabry Disease

• NCT number: NCT03678324
• Study type: Interventional
• Source: University of Utah
• Status: Completed
• Phase: N/A
• Start date: January 27, 2020
• Completion date: March 30, 2022