Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

Study Overview
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Brief Summary
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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.

Official Title
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Association of the Pulsatility Index and Vasomotor Reactivity With White Matter Lesions in Brain MRI of Fabry Disease Patients

Conditions
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Fabry Disease

Intervention / Treatment
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* Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 16 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Fabry disease<br> | Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography<br>* 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.<br>|
| Healthy<br>age and sex matched | Diagnostic Test: Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography<br>* 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.<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Prevalence of elevated pulsatility index of FD patients | to assess the prevalence of elevated pulsatility index in FD patients at a single time point. | 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. | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | 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. | 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. | 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. | 2 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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pulsatility index, vasomotor reactivity, leukoencephalopathy, transcranial ultrasound