Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

November 7, 2023 updated by: Georgios Tsivgoulis, National and Kapodistrian University of Athens

Association of the Pulsatility Index and Vasomotor Reactivity With White Matter Lesions in Brain MRI of Fabry Disease Patients

We hypothesize that Fabry disease - FD is associated with elevated vascular resistance induced by cerebral small-vessel disease, indicating increased distal resistance to blood flow. The findings of this study may be used as a precursor for neuroimaging manifestations related to stroke in FD patients.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
45

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Greece
      • Athens, Greece, 12462
        • Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

16 years to 70 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Probability Sample

Study Population

Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.

Description

Inclusion Criteria:

Fabry disease diagnosis, genetically confirmed Age> 16 years

Exclusion Criteria:

Insufficient temporal bone window MRI contra-indication Inability to cooperate for breath-holding test Detection of atrial fibrillation Refuse to sing informed consent

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Fabry disease
Diagnostic test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography will be performed in consecutive FD patients. All TCD and TCCD studies will be performed by stroke neurologists experienced in vascular sonography.
Healthy
age and sex matched
Diagnostic test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography will be performed in consecutive FD patients. All TCD and TCCD studies will be performed by stroke neurologists experienced in vascular sonography.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Prevalence of elevated pulsatility index of FD patients
Time Frame: 2 years
to assess the prevalence of elevated pulsatility index in FD patients at a single time point.
2 years
Prevalence of elevated vasomotor reactivity in FD patients.
Time Frame: 2 years
to assess the prevalence of elevated vasomotor reactivity in FD patients at a single time point.
2 years

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Association of pulsalitily index with leukoencephalopathy in FD patients.
Time Frame: 2 years
To associate the pulsality index measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients.
2 years
Association of vasomotor reactivity with leukoencephalopathy in FD patients.
Time Frame: 2 years
To associate the vasomotor reactivity measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients.
2 years
Τo compare the pulsatility index measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.
Time Frame: 2 years
For the secondary outcome, age and sex-matched healthy controls will be consecutively enrolled. After clinical evaluation, healthy controls will present no FD-associated manifestations, hence they will be FD negative. In addition, brain MRI will be performed and subjects with white matter disease and leukoencephalopathy will be excluded. Included controls will be leukoencephalopathy negative. TCD and TCCD evaluation will be performed in healthy controls, in order to measure pulsatility index and compare the results against FD patients.
2 years
Τo compare vasomotor reactivity measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.
Time Frame: 2 years
For the secondary outcome, age and sex-matched healthy controls will be consecutively enrolled. After clinical evaluation, healthy controls will present no FD-associated manifestations, hence they will be FD negative. In addition, brain MRI will be performed and subjects with white matter disease and leukoencephalopathy will be excluded. Included controls will be leukoencephalopathy negative. TCD and TCCD evaluation will be performed in healthy controls, in order to measure vasomotor reactivity and compare the results against FD patients.
2 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
National and Kapodistrian University of Athens

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
November 20, 2020

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
July 1, 2022

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
January 20, 2023

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
September 29, 2020

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 3, 2020

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 6, 2020

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
November 9, 2023

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
November 7, 2023

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • FD29092020

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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