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

Launched by CAROLINE MICHAELA KISTORP · Jan 9, 2025

Keywords

ClinConnect Summary

This clinical trial is investigating how heart-related issues, like inflammation and damage, are connected to Fabry disease, a genetic condition that can affect the heart and other organs. The researchers want to better understand how these heart problems develop in patients with Fabry disease, especially those who have a thickened heart muscle (a condition known as left ventricular hypertrophy). They will use advanced imaging techniques and a detailed blood test to look at these heart changes. The goal is to improve the way doctors can diagnose and monitor heart issues in people with Fabry disease.

To participate in this study, you need to be at least 18 years old and have a confirmed diagnosis of Fabry disease. The study is open to both men and women. If you don’t have Fabry disease but are a healthy adult, you might also be eligible to help compare results. Participants will undergo tests that include specialized heart imaging and blood samples. It's important to know that there are specific health conditions that might prevent someone from joining, so a thorough screening will take place. Overall, this trial aims to enhance understanding and treatment of heart problems related to Fabry disease.

Gender

ALL

Eligibility criteria

• • 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