Fabry DiseaseVDFPNCT05699265
Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
An observational study of Fabry Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 8 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- Measures of arterial stiffness and endothelial function, Ambulatory blood pressure monitoring and Cardiopulmonary exercise testing (CPET)
- How many people
- 4 participants
- Where
- 1 siteUnited States
- Study dates
- 1 Feb 2023to 1 Apr 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- Physical limitation that would preclude exercise
- Currently prescribed non-ERT treatments for Fabry disease
Trial locations and contacts
1 site in 1 country.
United States1 site
Cincinnati Children's Hospital
Cincinnati, Ohio, 45229
About this study
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.
- Conditions
- Fabry Disease
- Being tested
- Measures of arterial stiffness and endothelial function, Ambulatory blood pressure monitoring, Cardiopulmonary exercise testing (CPET), Serum and urine biomarkers
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Measures of arterial stiffness and endothelial functionDiagnostic test
baseline cMRI, vascular reactivity studies, and CPET
Ambulatory blood pressure monitoringDiagnostic test
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).
Cardiopulmonary exercise testing (CPET)Diagnostic test
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.
Serum and urine biomarkersDiagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| Fabry Disease Follow-Up Patients | Not described Receives: Diagnostic Test: Measures of arterial stiffness and endothelial function; Diagnostic Test: Ambulatory blood pressure monitoring; Diagnostic Test: Cardiopulmonary exercise testing (CPET); Diagnostic Test: Serum and urine biomarkers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Peak systolic blood pressure
The mean peak systolic blood pressure for Fabry disease patients is assumed to be 160 mmHg
Measured: through study completion, approximately 22 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Jan 2023
- Study start1 Feb 2023
- Primary completion1 Apr 2025
- Study completion1 Apr 2025
Why it stopped: The sponsor withdrew funding since there was no progress with this study for a significant amount of time.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- More trials run by Children's Hospital Medical Center, CincinnatiThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 4 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital Medical Center, Cincinnati
- Sponsor type
- University, hospital or other
- Collaborators
- Sanofi
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05699265
- Sponsor's protocol ID
- 2021-0779 VDFP
- Acronym
- VDFP
- Status last verified
- Jun 2025
- First submitted
- 12 Jan 2023
- Last updated
- 19 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 19 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
- ClinicalTrials.gov ID
- NCT05699265
- Acronym / sponsor ID
- VDFP / 2021-0779 VDFP
- Conditions
- Fabry Disease
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: The sponsor withdrew funding since there was no progress with this study for a significant amount of time.
- Enrolment
- 4 participants (actual)
- Lead sponsor
- Children's Hospital Medical Center, CincinnatiUniversity, hospital or other
- Collaborators
- Sanofi
- Study start
- 1 Feb 2023 (actual)
- Primary completion
- 1 Apr 2025 (actual)
- Study completion
- 1 Apr 2025 (actual)
- First posted
- 26 Jan 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Fabry Disease Follow-Up Patients | – | Diagnostic Test: Measures of arterial stiffness and endothelial function, Diagnostic Test: Ambulatory blood pressure monitoring, Diagnostic Test: Cardiopulmonary exercise testing (CPET), Diagnostic Test: Serum and urine biomarkers |
Who may qualify
- Ages
- 8 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (2 listed)
- Physical limitation that would preclude exercise
- Currently prescribed non-ERT treatments for Fabry disease
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Measures of arterial stiffness and endothelial functionbaseline cMRI, vascular reactivity studies, and CPET | Diagnostic test | Fabry Disease Follow-Up Patients |
| Ambulatory blood pressure monitoringA 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 | Fabry Disease Follow-Up Patients |
| 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 | Fabry Disease Follow-Up Patients |
| Serum and urine biomarkersClinical 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. | Diagnostic test | Fabry Disease Follow-Up Patients |
Primary outcome
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
Results and safety
The study was stopped early (reason given: The sponsor withdrew funding since there was no progress with this study for a significant amount of time.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 19 Jun 2025.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Children's Hospital Medical Center, Cincinnati at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: stopped early, as of the sponsor's last update on 19 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study was stopped early (reason given: The sponsor withdrew funding since there was no progress with this study for a significant amount of time.). Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Peak systolic blood pressure (time frame: through study completion, approximately 22 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 19 Jun 2025.