Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

Completed

• Conditions: Fabry Disease
• Interventions: Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography

• Registration Number: NCT04577170
• Lead Sponsor: National and Kapodistrian University of Athens

Brief 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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-09-29
• Study First Submitted QC: 2020-10-03
• Study First Posted: 2020-10-06
• Study Start: 2020-11-20
• Primary Completion: 2022-07-01
• Study Completion: 2023-01-20
• Status Verified: 2023-11
• Last Update Submitted: 2023-11-07
• Last Update Posted: 2023-11-09

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 45

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Healthy	Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography	age and sex matched
Fabry disease	Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography	-

Primary Outcome Measures

Name	Time	Method
Prevalence of elevated pulsatility index of FD patients	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.	2 years	to assess the prevalence of elevated vasomotor reactivity in FD patients at a single time point.

Secondary Outcome Measures

Name	Time	Method
Τo compare vasomotor reactivity measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.	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.
Association of vasomotor reactivity with leukoencephalopathy in FD patients.	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.
Association of pulsalitily index with leukoencephalopathy in FD patients.	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.
Τo compare the pulsatility index measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.	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.

Trial Locations

Locations (1)

Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece; 🇬🇷 Athens, Greece