Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing (VDFP)

June 16, 2025 updated by: Children's Hospital Medical Center, Cincinnati
A longitudinal pilot study will be conducted to determine if there are additional testing modalities that are effective in broadly phenotyping subclinical dysfunction in patients with Fabry disease. Individual patients will undergo serial testing over a two-year period to evaluate for changes in their cardiovasculaorenal function during this period. Novel modalities evaluated will include measures of arterial stiffness, ambulatory blood pressure monitoring, cardiopulmonary exercise testing (CPET), and novel serum and urine biomarkers. The benefit of these measures being evaluated is that they are noninvasive, can be performed rapidly, and have reduced costs compared to the current standard screening modalities. Results from these evaluations will be compared to cMRI and standard urine and serum biomarkers performed clinically per local standard of care. The results will also be compared to both published normative data and data from patients with diabetes mellitus, who have a similar microvascular disease process to patients with Fabry disease.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Terminated

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
4

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Locations

  • United States
    • Ohio
      • Cincinnati, Ohio, United States, 45229
        • Cincinnati Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

8 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Participants to be included in this study are patients who are being seen for follow up of known Fabry disease. These patients are screened regularly by the Department of Human Genetics for routine Fabry disease care. All Fabry disease patients who are physically able have a baseline cMRI and CPET performed at their appointment, per local standard of care.

Description

Inclusion Criteria:

  • Fabry patients with classical disease
  • English speaking, which is needed to assist with obtaining a maximal effort CPET
  • No medical contraindications to cardiopulmonary exercise testing or cMRI
  • Either treatment naïve or current taking ERT

Exclusion Criteria:

  • Physical limitation that would preclude exercise
  • Currently prescribed non-ERT treatments for Fabry disease

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Intervention / Treatment

Intervention / Treatment

A process or action that is the focus of a clinical study. Interventions include drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available. Interventions can also include noninvasive approaches, such as education or modifying diet and exercise.
Fabry Disease Follow-Up Patients
Diagnostic test: Measures of arterial stiffness and endothelial function
baseline cMRI, vascular reactivity studies, and CPET
Diagnostic test: Ambulatory blood pressure monitoring
A manual blood pressure with a mercury sphygmomanometer will be performed in order to have an accurate baseline measurement. The SphygmoCor SCOR-PVx System (Atcor Medical, Syndey, Australia), previously validated in the young, will be used for the assessment of PWV (pulse wave velocity) and the Heart Rate Variability (HRV).
Diagnostic test: Cardiopulmonary exercise testing (CPET)
Cardiopulmonary exercise testing will be performed, and the patients will have a baseline oxygen uptake at rest to determine the rates for testing. A 12 lead ECG, heart rate, a 12 lead rhythm strip, and a 6 lead rhythm strip will be recorded. Oxygen consumption and carbon dioxide production will be measured. Blood pressure will be measured. Perceived exertion will be obtained during each workload using the Borg Scale. The results for submaximal effort testing will be derived from completed maximal testing. The outcome measures will be obtained once the subject reaches anaerobic threshold.
Diagnostic test: Serum and urine biomarkers
Clinical labs drawn will include plasma and urine globotriaosylsphingosine (lyso-Gb3), globotriaosylceramide (GL3), blood urea nitrogen, creatinine, cystatin C, urinalysis, urine protein, urine microalbumin and urine creatinine. Labs specific for this study will include N-acetyl-β-glucosaminidase, urine neutrophil gelatinase-associated lipocalin (NGAL), and kidney injury molecule 1 (KIM-1). All data will be obtained at three different time intervals: enrollment, 1 year and 2 years.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Peak systolic blood pressure
Time Frame: through study completion, approximately 22 months
The mean peak systolic blood pressure for Fabry disease patients is assumed to be 160 mmHg
through study completion, approximately 22 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Children's Hospital Medical Center, Cincinnati

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
Sanofi

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
February 1, 2023

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 1, 2025

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 1, 2025

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
January 12, 2023

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 24, 2023

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
January 26, 2023

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
June 19, 2025

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
June 16, 2025

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 2021-0779 VDFP

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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