NCT04577170

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
45

participants targeted

Target at P25-P50 for all trials

Timeline
Completed

Started Nov 2020

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

First Submitted

Initial submission to the registry

September 29, 2020

Completed
7 days until next milestone

First Posted

Study publicly available on registry

October 6, 2020

Completed
2 months until next milestone

Study Start

First participant enrolled

November 20, 2020

Completed
1.6 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

July 1, 2022

Completed
7 months until next milestone

Study Completion

Last participant's last visit for all outcomes

January 20, 2023

Completed
Last Updated

November 9, 2023

Status Verified

November 1, 2023

Enrollment Period

1.6 years

First QC Date

September 29, 2020

Last Update Submit

November 7, 2023

Conditions

Keywords

pulsatility indexvasomotor reactivityleukoencephalopathytranscranial ultrasound

Outcome Measures

Primary Outcomes (2)

  • 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 Outcomes (4)

  • Association of pulsalitily index with leukoencephalopathy in FD patients.

    2 years

  • Association of vasomotor reactivity with leukoencephalopathy in 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.

    2 years

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

    2 years

Study Arms (2)

Fabry disease

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

Healthy

age and sex matched

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

Interventions

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.

Fabry diseaseHealthy

Eligibility Criteria

Age16 Years - 70 Years
Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodProbability Sample
Study Population

Consecutive patients with genetically confirmed FD and healthy individuals will be prospectively enrolled as part of routine clinical examination.

You may qualify if:

  • Fabry disease diagnosis, genetically confirmed Age\> 16 years

You may not qualify if:

  • Insufficient temporal bone window MRI contra-indication Inability to cooperate for breath-holding test Detection of atrial fibrillation Refuse to sing informed consent

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

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

Athens, 12462, Greece

Location

MeSH Terms

Conditions

Fabry DiseaseLeukoencephalopathies

Interventions

Ultrasonography, Doppler, TranscranialUltrasonography

Condition Hierarchy (Ancestors)

SphingolipidosesLysosomal Storage Diseases, Nervous SystemBrain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesCerebral Small Vessel DiseasesCerebrovascular DisordersVascular DiseasesCardiovascular DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolism, Inborn ErrorsLipidosesLipid Metabolism, Inborn ErrorsLysosomal Storage DiseasesMetabolic DiseasesNutritional and Metabolic DiseasesLipid Metabolism Disorders

Intervention Hierarchy (Ancestors)

EchoencephalographyNeuroradiographyNeuroimagingDiagnostic ImagingDiagnostic Techniques and ProceduresDiagnosisRadiographyUltrasonography, DopplerDiagnostic Techniques, NeurologicalInvestigative Techniques

Study Design

Study Type
observational
Observational Model
OTHER
Time Perspective
CROSS SECTIONAL
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor

Study Record Dates

First Submitted

September 29, 2020

First Posted

October 6, 2020

Study Start

November 20, 2020

Primary Completion

July 1, 2022

Study Completion

January 20, 2023

Last Updated

November 9, 2023

Record last verified: 2023-11

Locations