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Completed

NCT Number: NCT03678324

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

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

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Key information

Conditions

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

Age range

18 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

University of Utah

Salt Lake City, Utah, 84108, United States

About this study

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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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.

Other names: fmri, FBFI, Neuropsychological assessments

Primary outcomes

  1. FBFI MRI using advanced MRI technique

    Time frame: 6 months after enrollment closes

    advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD

  2. Identify difference between patients with Fabry disease and healthy controls in brain function as measured and quantified by functional MRI

    Time frame: 6 months after enrollment closes

    identify altered brain function

  3. use FBFI and fMRI to map

    Time frame: 6 months after enrollment closes

    together to map altered connectivity in response to brain lesions

Sponsors and collaborators

Lead sponsor

University of Utah

Other

Collaborators

  • Genzyme, a Sanofi Company

Registry information

Important dates

Study start
2020
Primary completion
2022
Study completion
2022
First posted
Sep 19, 2018
Registry last updated
May 26, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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