Studying heart inflammation and blood vessel changes in Fabry disease
Studies heart scans and blood tests in adults with Fabry disease.
Plain-language title generated from the registry record
Registry title: the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
Key facts
- Where
- Copenhagen, DenmarkSee the site
Where in Denmark
- RigshospitaletCopenhagen, DenmarkTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Caroline Michaela Kistorp
- Trial code
- NCT06776419
- Record updated
- 8 April 2025
- Original description
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:Read full original descriptionShow less
the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
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.
Inclusion: Male and female individuals with a genetically-verified diagnosis of Fabry disease; ≥ 18 years of age; Able to give informed consent; ≥ 18 years of age; Able to give informed consent.
Exclusion: 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; Known heart failure, previous apoplexy or previously established kidney disease; Initiation or change of antihypertensive therapy within 3 months of enrollment; 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; 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; 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; 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; Pregnancy; Age and sex-matched healthy controls (2); Known LVH as evaluated on echocardiography; Pregnancy.
Patients with Fabry disease (1).