the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
Recruiting now
Conditions studied: Fabry Disease, Cardiovascular Diseases
In brief
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 facts
- Study ID
- NCT06776419
- Run by
- Caroline Michaela Kistorp
- People needed
- 54
- Starts
- 2025-05-01
- Expected to finish
- 2031-06-01
- Last updated by the study team
- 2025-04-08
Who can join
Age: 18 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Male and female individuals with a genetically-verified diagnosis of Fabry disease
- ≥ 18 years of age
- Able to give informed consent
You may not qualify if…
- 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
Where it is running
- Rigshospitalet — Copenhagen, Denmark (enrolling)
Full record on ClinicalTrials.gov
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