Fabry Disease
Conditions
Keywords
pulsatility index, vasomotor reactivity, leukoencephalopathy, transcranial ultrasound
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.
Interventions
DIAGNOSTIC_TESTTranscranial 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.
Sponsors
National and Kapodistrian University of Athens
Study design
Observational model
OTHER
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
16 Years to 70 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
| 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. |
Countries
Greece
Outcome results
None listed