Cardiovasculorenal Phenotyping in Fabry Disease Through Noninvasive Testing
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.
Conditions:
🦠 Fabry Disease
πŸ—“οΈ Study Start (Actual) 1 February 2023
πŸ—“οΈ Primary Completion (Estimated) December 2027
βœ… Study Completion (Estimated) March 2028
πŸ‘₯ Enrollment (Estimated) 20
πŸ”¬ Study Type OBSERVATIONAL
πŸ“Š Phase N/A
Locations:
πŸ“ Cincinnati, Ohio, United States

πŸ“‹ Eligibility Criteria

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 naΓ―ve or current taking ERT

    Exclusion Criteria:

    • * Physical limitation that would preclude exercise
    • * Currently prescribed non-ERT treatments for Fabry disease
Ages Eligible for Study: 8 Years to N/A (CHILD, ADULT, OLDER_ADULT)
Sexes Eligible for Study: ALL
Accepts Healthy Volunteers: No

πŸ—“οΈ 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 Registration Dates

  • First Submitted 12 January 2023
  • First Submitted that Met QC Criteria 24 January 2023
  • First Posted 26 January 2023

Study Record Updates

  • Last Update Submitted that Met QC Criteria 11 June 2024
  • Last Update Posted 12 June 2024
  • Last Verified June 2024