- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT05699265
Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing (VDFP)
May 3, 2023 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
Recruiting
Conditions
Study Type
Observational
Enrollment (Anticipated)
20
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
- Name: Adam Powell, MD
- Phone Number: 859-344-4732
- Email: adam.powell@cchmc.org
Study Locations
-
-
Ohio
-
Cincinnati, Ohio, United States, 45229
- Recruiting
- Cincinnati Children's Hospital
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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
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 |
Intervention / Treatment |
---|---|
Fabry Disease Follow-Up Patients
|
baseline cMRI, vascular reactivity studies, and CPET
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 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.
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
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.
Collaborators
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)
February 1, 2023
Primary Completion (Anticipated)
October 1, 2024
Study Completion (Anticipated)
April 1, 2025
Study Registration Dates
First Submitted
January 12, 2023
First Submitted That Met QC Criteria
January 24, 2023
First Posted (Actual)
January 26, 2023
Study Record Updates
Last Update Posted (Estimate)
May 4, 2023
Last Update Submitted That Met QC Criteria
May 3, 2023
Last Verified
May 1, 2023
More Information
Terms related to this study
Additional Relevant MeSH Terms
- Cardiovascular Diseases
- Vascular Diseases
- Metabolic Diseases
- Cerebrovascular Disorders
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Genetic Diseases, Inborn
- Genetic Diseases, X-Linked
- Metabolism, Inborn Errors
- Lysosomal Storage Diseases
- Lipid Metabolism Disorders
- Brain Diseases, Metabolic
- Brain Diseases, Metabolic, Inborn
- Sphingolipidoses
- Lysosomal Storage Diseases, Nervous System
- Cerebral Small Vessel Diseases
- Lipidoses
- Lipid Metabolism, Inborn Errors
- Fabry Disease
Other Study ID 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
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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