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RECRUITINGOBSERVATIONAL

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

Important: This information is not medical advice. Talk to your doctor about whether a clinical trial is right for you.

About This Trial

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.

Who May Be Eligible (Plain English)

Patients with Fabry disease (1) Who May Qualify: - Male and female individuals with a genetically-verified diagnosis of Fabry disease - ≥ 18 years of age - Able to give willing to sign a consent form Who Should NOT Join This Trial: - 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) Who May Qualify: - ≥ 18 years of age - Able to give willing to sign a consent form Who Should NOT Join This Trial: - 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 Always talk to your doctor about whether this trial is right for you.

Original Eligibility Criteria

View original clinical language
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

Treatments Being Tested

DIAGNOSTIC_TEST

Cardiac Magnetic Ressonance Imaging

CMR-protocol with gadolinium contrast

DIAGNOSTIC_TEST

82Rubidium-positron emission tomography and computer-tomography

cardiac Rb-PET protocol

Locations (1)

Rigshospitalet
Copenhagen, Denmark