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OpenTrials
Completed

NCT Number: NCT04577170

Pulsatility Index, Vasomotor Reactivity and Leukoencephalopathy in Fabry Patients

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.

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Key information

Conditions

Fabry Disease Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Cardiovascular Diseases Central Nervous System Diseases Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Leukoencephalopathies Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Sphingolipidoses Vascular Diseases

Age range

16 year–70 year

Sex eligibility

All sexes

Study type

Observational

Primary location

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

Athens, 12462, Greece

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Transcranial Doppler (TCD) and Transcranial Color-Coded Duplex (TCCD) ultrasonography

Diagnostic Test

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.

Primary outcomes

  1. Prevalence of elevated pulsatility index of FD patients

    Time frame: 2 years

    to assess the prevalence of elevated pulsatility index in FD patients at a single time point.

  2. Prevalence of elevated vasomotor reactivity in FD patients.

    Time frame: 2 years

    to assess the prevalence of elevated vasomotor reactivity in FD patients at a single time point.

Secondary outcomes

  1. Association of pulsalitily index with leukoencephalopathy in FD patients.

    Time frame: 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.

  2. Association of vasomotor reactivity with leukoencephalopathy in FD patients.

    Time frame: 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.

  3. Τo compare the pulsatility index measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.

    Time frame: 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.

  4. Τo compare vasomotor reactivity measured in FD patients against corresponding prospectively collected data from healthy individuals, stratified by age and sex.

    Time frame: 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.

Sponsors and collaborators

Lead sponsor

National and Kapodistrian University of Athens

Other

Registry information

Official study title

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

Important dates

Study start
2020
Primary completion
2022
Study completion
2023
First posted
Oct 6, 2020
Registry last updated
Nov 9, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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