Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
NCT ID: NCT05699265
Last Updated: 2025-06-19
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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TERMINATED
4 participants
OBSERVATIONAL
2023-02-01
2025-04-01
Brief Summary
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Detailed Description
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Conditions
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Study Design
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CASE_ONLY
PROSPECTIVE
Study Groups
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Fabry Disease Follow-Up Patients
Measures of arterial stiffness and endothelial function
baseline cMRI, vascular reactivity studies, and CPET
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).
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.
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.
Interventions
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Measures of arterial stiffness and endothelial function
baseline cMRI, vascular reactivity studies, and CPET
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).
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.
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.
Eligibility Criteria
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Inclusion Criteria
* 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
* Currently prescribed non-ERT treatments for Fabry disease
8 Years
ALL
No
Sponsors
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Sanofi
INDUSTRY
Children's Hospital Medical Center, Cincinnati
OTHER
Responsible Party
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Locations
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Cincinnati Children's Hospital
Cincinnati, Ohio, United States
Countries
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Other Identifiers
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2021-0779 VDFP
Identifier Type: -
Identifier Source: org_study_id
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