Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing

Recruiting

• Conditions: Fabry Disease
• Interventions: 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

• 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

Study Timeline

• Study First Submitted: 2023-01-12
• Study First Submitted QC: 2023-01-24
• Study First Posted: 2023-01-26
• Study Start: 2023-02-01
• Status Verified: 2024-06
• Last Update Submitted: 2024-06-11
• Last Update Posted: 2024-06-12
• Primary Completion: 2027-12
• Study Completion: 2028-03

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 20

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Fabry Disease Follow-Up Patients	Measures of arterial stiffness and endothelial function	-
Fabry Disease Follow-Up Patients	Cardiopulmonary exercise testing (CPET)	-
Fabry Disease Follow-Up Patients	Ambulatory blood pressure monitoring	-
Fabry Disease Follow-Up Patients	Serum and urine biomarkers	-

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

Trial Locations

Locations (1)

Cincinnati Children's Hospital; 🇺🇸 Cincinnati, Ohio, United States