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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03678324
• Other study ID #: Fabry MRI
• Status: Completed
• Phase: N/A
• Start date: January 27, 2020
• Est. completion date: March 30, 2022

Study information

• Verified date: May 2022
• Source: University of Utah
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 40
• Est. completion date: March 30, 2022
• Est. primary completion date: March 30, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 18 Years and older

Eligibility

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.

Exclusion Criteria:

• Subjects who are claustrophobic

• have metal implants

• Cannot pass the MRI safety screening questionnaire.

Related Conditions & MeSH terms

• Fabry Disease

Intervention

Other:
• Functional 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.

Locations

Country	Name	City	State
United States	University of Utah	Salt Lake City	Utah

Sponsors (2)

Lead Sponsor	Collaborator
University of Utah	Genzyme, a Sanofi Company

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	FBFI MRI using advanced MRI technique	advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD	6 months after enrollment closes
Primary	Identify difference between patients with Fabry disease and healthy controls in brain function as measured and quantified by functional MRI	identify altered brain function	6 months after enrollment closes
Primary	use FBFI and fMRI to map	together to map altered connectivity in response to brain lesions	6 months after enrollment closes