Noninvasive testing for heart and kidney issues in Fabry disease

Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing

Observational Children's Hospital Medical Center, Cincinnati · NCT05699265

This study is testing new noninvasive ways to check heart and kidney health in people with Fabry disease to see if they can help monitor the condition better.

Quick facts

Study typeObservational
Enrollment20 (estimated)
Ages8 Years and up
SexAll
SponsorChildren's Hospital Medical Center, Cincinnati Academic / other
Locations1 site (Cincinnati, Ohio)
Trial IDNCT05699265 on ClinicalTrials.gov

What this trial studies

This observational study aims to explore new noninvasive testing methods to assess cardiovascular and renal function in patients with Fabry disease over a two-year period. Participants will undergo various tests, including measures of arterial stiffness, ambulatory blood pressure monitoring, and cardiopulmonary exercise testing, to identify subclinical dysfunction. The study will compare these results with standard clinical measures and normative data to evaluate their effectiveness and cost-efficiency. The goal is to enhance the understanding of disease progression in Fabry patients and improve monitoring strategies.

Who should consider this trial

Good fit: Ideal candidates are English-speaking patients with classical Fabry disease, either treatment-naïve or currently receiving enzyme replacement therapy.

Not a fit: Patients with physical limitations that prevent exercise or those on non-enzyme replacement treatments for Fabry disease may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved monitoring and management of cardiovascular and renal complications in Fabry disease patients.

How similar studies have performed: While there have been studies on Fabry disease, this approach using a combination of novel noninvasive testing modalities is relatively novel and has not been extensively tested.

Eligibility criteria

Show full inclusion / exclusion criteria
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

Where this trial is running

Cincinnati, Ohio

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Fabry Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.