Fabry DiseaseNCT04577170
Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients
An observational study of Fabry Disease, run by National and Kapodistrian University of Athens at 1 site in Greece.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 16 to 70 yearsHealthy volunteers can take part
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
- How many people
- 45 participants
- Where
- 1 siteGreece
- Study dates
- 20 Nov 2020to 20 Jan 2023
- Phase
- Observational
- 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 16 to 70 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.
Who may be able to join
- Fabry disease diagnosis, genetically confirmed Age> 16 years
Who cannot join
- Insufficient temporal bone window MRI contra-indication Inability to cooperate for breath-holding test Detection of atrial fibrillation Refuse to sing informed consent
Trial locations and contacts
1 site in 1 country.
Greece1 site
Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece
Athens, 12462
About this study
Official title: 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.
- Conditions
- Fabry Disease
- Being tested
- Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
- Keywords
- pulsatility index, vasomotor reactivity, leukoencephalopathy, transcranial ultrasound
- Medical subject headings
- Fabry Disease, Leukoencephalopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonographyDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| Fabry disease | Not described Receives: Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography | |
| Healthy | age and sex matched Receives: Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography |
What is being measured
The primary outcome is the main question the study is designed to answer.
Prevalence of elevated pulsatility index of FD patients
to assess the prevalence of elevated pulsatility index in FD patients at a single time point.
Measured: 2 years
Prevalence of elevated vasomotor reactivity in FD patients.
to assess the prevalence of elevated vasomotor reactivity in FD patients at a single time point.
Measured: 2 years
Secondary outcomes (4)
Association of pulsalitily index with leukoencephalopathy in FD patients.
To associate the pulsality index measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients.
Measured: 2 years
Association of vasomotor reactivity with leukoencephalopathy in FD patients.
To associate the vasomotor reactivity measured by TCD and TCCD with the presence of white matter lesions in brain MRI of FD patients.
Measured: 2 years
Τo compare the pulsatility index measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.
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.
Measured: 2 years
Τo compare vasomotor reactivity measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.
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.
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Oct 2020
- Study start20 Nov 2020
- Primary completion1 Jul 2022
- Study completion20 Jan 2023
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.
- More trials run by National and Kapodistrian University of AthensThe sponsor's other registered studies.
- 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
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 45 participants (actual)
Sponsor and investigators
- Lead sponsor
- National and Kapodistrian University of Athens
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Georgios Tsivgoulis, National and Kapodistrian University of Athens
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04577170
- Sponsor's protocol ID
- FD29092020
- Status last verified
- Nov 2023
- First submitted
- 29 Sep 2020
- Last updated
- 9 Nov 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Association of the Pulsatility Index and Vasomotor Reactivity With White Matter Lesions in Brain MRI of Fabry Disease Patients
- ClinicalTrials.gov ID
- NCT04577170
- Acronym / sponsor ID
- FD29092020
- Conditions
- Fabry Disease
- Keywords
- pulsatility index, vasomotor reactivity, leukoencephalopathy, transcranial ultrasound
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 45 participants (actual)
- Lead sponsor
- National and Kapodistrian University of AthensUniversity, hospital or other
- Study start
- 20 Nov 2020 (actual)
- Primary completion
- 1 Jul 2022 (actual)
- Study completion
- 20 Jan 2023 (actual)
- First posted
- 6 Oct 2020 (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.
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 design
- Observational model
- Other
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Fabry disease | – | Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography |
| Healthy | – | Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonographyage and sex matched |
Who may qualify
- Ages
- 16 to 70 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.
Key inclusion criteria (1 listed)
- Fabry disease diagnosis, genetically confirmed Age> 16 years
Key exclusion criteria (1 listed)
- Insufficient temporal bone window MRI contra-indication Inability to cooperate for breath-holding test Detection of atrial fibrillation Refuse to sing informed consent
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 |
|---|---|---|
| Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonographyTranscranial 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. | Diagnostic test | Fabry disease, Healthy |
Primary outcome
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.
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.
4 secondary outcomes
Association of pulsalitily index with leukoencephalopathy in FD patients.
Time frame: 2 years
Association of vasomotor reactivity with leukoencephalopathy in FD patients.
Time frame: 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
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
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 9 Nov 2023.
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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?
An observational study of Fabry Disease, run by National and Kapodistrian University of Athens at 1 site in Greece.
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 1 inclusion and 1 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 9 Nov 2023. 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 Greece. 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?
Prevalence of elevated pulsatility index of FD patients (time frame: 2 years). The study lists 2 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 9 Nov 2023.