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Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

Completed
Conditions
Fabry Disease
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

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
Primary Outcome Measures
NameTimeMethod
Prevalence of elevated pulsatility index of FD patients2 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
NameTimeMethod
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

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

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