Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
- Conditions
- Fabry Disease
- Registration Number
- NCT05699265
- Lead Sponsor
- Children's Hospital Medical Center, Cincinnati
- Brief 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. 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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- TERMINATED
- Sex
- All
- Target Recruitment
- 4
- 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
- Physical limitation that would preclude exercise
- Currently prescribed non-ERT treatments for Fabry disease
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Peak systolic blood pressure through study completion, approximately 22 months The mean peak systolic blood pressure for Fabry disease patients is assumed to be 160 mmHg
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
Cincinnati Children's Hospital
🇺🇸Cincinnati, Ohio, United States
Cincinnati Children's Hospital🇺🇸Cincinnati, Ohio, United States