Fabry DiseaseNCT03678324
Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
A study testing Functional MRI and fast bound-pool fraction imaging in people with Fabry Disease, run by University of Utah at 1 site in United States.
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 Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Functional MRI and fast bound-pool fraction imaging
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- 27 Jan 2020to 30 Mar 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Have Fabry Disease
- Must be 18yrs or older
- 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.
Who cannot join
- Subjects who are claustrophobic
- have metal implants
- Cannot pass the MRI safety screening questionnaire.
- Unaffected Controls
- Subjects who are claustrophobic
- have metal implants
- Cannot pass the MRI safety screening questionnaire.
Trial locations and contacts
1 site in 1 country.
About this study
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
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- Functional MRI and fast bound-pool fraction imaging
- Keywords
- fabry, MRI (Magnetic resonance imaging), Fabry brain lesions
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Functional MRI and fast bound-pool fraction imagingOther
Also called fmri, FBFI, Neuropsychological assessments
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.
| Study group | Role | What they receive |
|---|---|---|
| Fabry | Other | Must be 18 or older and able to have an MRI. Receives: Other: Functional MRI and fast bound-pool fraction imaging |
What is being measured
The primary outcome is the main question the study is designed to answer.
FBFI MRI using advanced MRI technique
advanced quantitative MRI technique (FBFI) to detect and quantify brain lesion in patients with FD
Measured: 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
Measured: 6 months after enrollment closes
use FBFI and fMRI to map
together to map altered connectivity in response to brain lesions
Measured: 6 months after enrollment closes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2018
- Study start27 Jan 2020
- Primary completion30 Mar 2022
- Study completion30 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Model description
- 20 patients with Fabry and 20 unaffected
- Masking
- None (open label)
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Responsible party
- Principal investigator, Hunter Underhill, University of Utah
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03678324
- Sponsor's protocol ID
- Fabry MRI
- Status last verified
- May 2022
- First submitted
- 6 Sep 2018
- Last updated
- 26 May 2022
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No: Aggregate data will be published.
Study at a glance
From the registry record, last updated by the sponsor on 26 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pre-Clinical White Matter Changes and Associated Connectivity Effects in Fabry Disease
- ClinicalTrials.gov ID
- NCT03678324
- Acronym / sponsor ID
- Fabry MRI
- Conditions
- Fabry Disease
- Keywords
- fabry, MRI (Magnetic resonance imaging), Fabry brain lesions
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Collaborators
- Genzyme, a Sanofi Company
- Study start
- 27 Jan 2020 (actual)
- Primary completion
- 30 Mar 2022 (actual)
- Study completion
- 30 Mar 2022 (actual)
- First posted
- 19 Sep 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
- Model description
- 20 patients with Fabry and 20 unaffected
| Arm | Type | Receives |
|---|---|---|
| Fabry | Other | Other: Functional MRI and fast bound-pool fraction imagingMust be 18 or older and able to have an MRI. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Have Fabry Disease
- Must be 18yrs or older
- 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.
Key exclusion criteria (7 listed)
- Subjects who are claustrophobic
- have metal implants
- Cannot pass the MRI safety screening questionnaire.
- Unaffected Controls
- Subjects who are claustrophobic
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Functional MRI and fast bound-pool fraction imagingAlso: fmri, FBFI, Neuropsychological assessmentsUse 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 | Fabry |
Primary outcome
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
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
use FBFI and fMRI to map
Time frame: 6 months after enrollment closes
together to map altered connectivity in response to brain lesions
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 26 May 2022.
- Individual participant dataSharing planned: No. Aggregate data will be published.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Functional MRI and fast bound-pool fraction imaging in people with Fabry Disease, run by University of Utah at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 7 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 26 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
FBFI MRI using advanced MRI technique (time frame: 6 months after enrollment closes). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 26 May 2022; AzTrials last refreshed its copy on 1 Nov 2026.