Cardiac Magnetic Ressonance Imaging82Rubidium-positron emission tomography and computer-tomography
Cardiac Magnetic Ressonance Imaging: CMR-protocol with gadolinium contrast
82Rubidium-positron emission tomography and computer-tomography: cardiac Rb-PET protocol
Study summary
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.
Eligibility
Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
Accepted
Patients with Fabry disease (1)
Inclusion Criteria:
* Male and female individuals with a genetically-verified diagnosis of Fabry disease
* ≥ 18 years of age
* Able to give informed consent
Exclusion Criteria:
* Any contraindication against a pharmacologically induced rest-stress PET/CT protocol according to local safety procedures such as acute coronary syndrome, severe bronchospasm, severe chronic obstructive pulmonary disease, cardiac arrhythmia.
* Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
Age and sex-matched healthy controls (2)
Inclusion Criteria:
* ≥ 18 years of age
* Able to give informed consent
Exclusion Criteria:
* A genetically-verified diagnosis of Fabry disease.
* Family member to a patient with a genetically-verified diagnosis of Fabry disease
* Cancer expected to influence life expectancy.
* Known heart failure, previous apoplexy or previously established kidney disease.
* Initiation or change of antihypertensive therapy within 3 months of enrollment.
* Known LVH as evaluated on echocardiography
* Any contraindication for a pharmacologically induced stress PET/CT protocol according to local safety procedures such as acute coronary syndrome, severe bronchospasm, severe chronic obstructive pulmonary disease, cardiac arrhythmia.
* Any contraindication for MRI according to standard checklist used in clinical routine, including claustrophobia or metallic foreign bodies, metallic implants, internal electrical devices, or permanent makeup/tattoos that cannot be declared MR compatible.
* Pregnancy
Primary outcome measure(s)
Change in global myocardial flow reserve — 3 year change A between-group difference in change in global myocardial flow reserve (MFR), evaluated by 82Rb-PET/CT, comparing Fabry patients with controls irrespective of the presence of LVH.
Change in global native T1 — 3 year change A between-group difference in change in global native T1 evaluated by MRI, comparing Fabry patients with controls irrespective of the presence of LVH.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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