the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease

Sponsor
Caroline Michaela Kistorp
Study ID
NCT06776419
Status
Recruiting
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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Accepted

Interventions

  • Cardiac Magnetic Ressonance Imaging — DIAGNOSTIC_TEST
    CMR-protocol with gadolinium contrast
  • 82Rubidium-positron emission tomography and computer-tomography — DIAGNOSTIC_TEST
    cardiac Rb-PET protocol

Study Details

The overall objective of this study is to investigate Fabry-related cardiomyopathy and the use of native T1-mapping, coronary microvascular function, cardiac inflammation, and cardiac injury in an effort to improve the ability to detect disease. The study aims to achieve this by: 1. Investigating the association between cardiac inflammation, fibrosis, and injury against the distribution and degree of microvascular disease in patients with Fabry disease with and without left ventricular hypertrophy (LVH) using cardiac magnetic resonance (CMR) imaging and 82Rubidium Positron emission tomography and computer tomography (82Rb-PET/CT). 2. Using an extensive, in-depth biomarker blood panel to investigate the pathological pathways associated with Fabry disease and Fabry-related cardiomyopathy.

Key Dates

Start date
May 1, 2025
Status verified
Apr 2025
Primary completion
Dec 1, 2030
Completion
Jun 1, 2031

Study Design

Enrollment
54 participants (estimated)

Arms

  • Arm: Patients with Fabry Disease
    Patients with a genetically verified diagnosis of Fabry disease, grouped by the presence of left ventricular hypertrophy
  • Arm: Controls
    Healthy age- and sex-matched controls

Primary Outcome Measure

Change in global myocardial flow reserve [ Time Frame: 3 year change ]

Central Contacts

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