Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

Fabry Disease Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04577170
• Other study ID #: FD29092020
• Status: Completed
• Start date: November 20, 2020
• Est. completion date: January 20, 2023

Study information

• Verified date: November 2023
• Source: National and Kapodistrian University of Athens
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 45
• Est. completion date: January 20, 2023
• Est. primary completion date: July 1, 2022
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 16 Years to 70 Years

Eligibility

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

Related Conditions & MeSH terms

• Fabry Disease
• Leukoencephalopathies

Intervention

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.

Locations

Country	Name	City	State
Greece	Second Department of Neurology, "Attikon" University Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece	Athens

Sponsors (1)

Lead Sponsor	Collaborator
National and Kapodistrian University of Athens

Country where clinical trial is conducted

Greece, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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	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
Secondary	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
Secondary	?o 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
Secondary	?o 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