An observational study in Fabry Disease, sponsored by National and Kapodistrian University of Athens. Completed at 1 site in Greece. Open to participants aged 16 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-11-09.
Sponsored by National and Kapodistrian University of Athens · Observational
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.
Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.
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
Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography
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.
Prevalence of elevated pulsatility index of FD patients
to assess the prevalence of elevated pulsatility index in FD patients at a single time point.
Time frame: 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.
Time frame: 2 years
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.
Time frame: 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.
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.
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.
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.
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.
Time frame: 2 years
This study is completed, as verified in Nov 2023. You cannot join it, but the record below documents what was studied.
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National and Kapodistrian University of Athens