NCT06776419 the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
| NCT ID | NCT06776419 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Caroline Michaela Kistorp |
| Condition | Fabry Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 54 participants |
| Start Date | 2025-05-01 |
| Primary Completion | 2030-12-01 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 54 participants in total. It began in 2025-05-01 with a primary completion date of 2030-12-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief 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 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
Contact & Investigator
Caroline Kistorp, Professor
PRINCIPAL INVESTIGATOR
Rigshospitalet, Denmark
Frequently Asked Questions
Who can join the NCT06776419 clinical trial?
This trial is open to participants of all sexes, aged 18 Years or older, studying Fabry Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06776419 currently recruiting?
Yes, NCT06776419 is actively recruiting participants. Contact the research team at caroline.michaela.kistorp@regionh.dk for enrollment information.
Where is the NCT06776419 trial being conducted?
This trial is being conducted at Copenhagen, Denmark.
Who is sponsoring the NCT06776419 clinical trial?
NCT06776419 is sponsored by Caroline Michaela Kistorp. The principal investigator is Caroline Kistorp, Professor at Rigshospitalet, Denmark. The trial plans to enroll 54 participants.