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

NCT03678324 | Completed

• 1 other identifier: Fabry MRI
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 1

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

Conditions

Fabry Disease

Keywords

fabry; MRI (Magnetic resonance imaging); Fabry brain lesions

Outcome Measures

Primary Outcomes (3)

• 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

• 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

• use FBFI and fMRI to map

  together to map altered connectivity in response to brain lesions

  6 months after enrollment closes

Study Arms (1)

Fabry

OTHER

Must be 18 or older and able to have an MRI.

Other: Functional MRI and fast bound-pool fraction imaging

Interventions

Functional MRI and fast bound-pool fraction imaging OTHER

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.

Also known as: fmri, FBFI, Neuropsychological assessments

Fabry

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Have Fabry Disease
• Must be 18yrs or older

You may not qualify if:

• Subjects who are claustrophobic
• have metal implants
• Cannot pass the MRI safety screening questionnaire.
• Unaffected Controls
• 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.
• Subjects who are claustrophobic
• have metal implants
• Cannot pass the MRI safety screening questionnaire.

Sponsors & Collaborators

• University of Utah: lead
• Genzyme, a Sanofi Company: collaborator

Study Sites (1)

University of Utah

Salt Lake City, Utah, 84108, United States

Location

MeSH Terms

Conditions

Fabry Disease

Interventions

CYFIP2 protein, human

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: BASIC SCIENCE
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics,

Model Details: 20 patients with Fabry and 20 unaffected

Study Record Dates

• First Submitted: September 6, 2018
• First Posted: September 19, 2018
• Study Start: January 27, 2020
• Primary Completion: March 30, 2022
• Study Completion: March 30, 2022
• Last Updated: May 26, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)