Investigating cardiac issues in Fabry disease
the Role of cArdiac Inflammation, endoThelial Dysfunction, and FIbrosis in fabrY Disease
This study is trying to understand how heart problems in people with Fabry disease are linked to inflammation and damage, using special imaging and blood tests to help improve diagnosis and treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 54 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Rigshospitalet, Denmark Academic / other |
| Drugs / interventions | radiation |
| Locations | 1 site (Copenhagen) |
| Trial ID | NCT06776419 on ClinicalTrials.gov |
What this trial studies
This study aims to explore the relationship between cardiac inflammation, fibrosis, and injury in patients with Fabry disease, particularly focusing on those with and without left ventricular hypertrophy. Utilizing advanced imaging techniques such as cardiac magnetic resonance (CMR) and 82Rubidium PET/CT, the study will assess microvascular disease and its impact on cardiac health. Additionally, an extensive biomarker blood panel will be employed to investigate the underlying pathological pathways associated with Fabry-related cardiomyopathy. The goal is to enhance the detection and understanding of cardiac complications in Fabry disease.
Who should consider this trial
Good fit: Ideal candidates include males and females aged 18 and older with a genetically-verified diagnosis of Fabry disease.
Not a fit: Patients without a diagnosis of Fabry disease or those with contraindications for MRI or PET/CT procedures may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic methods and treatment strategies for patients with Fabry disease-related cardiac issues.
How similar studies have performed: While there have been studies on Fabry disease, this specific approach utilizing advanced imaging and biomarker analysis is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Copenhagen
- Rigshospitalet — Copenhagen, Denmark (Recruiting)
Study contacts
- Principal investigator: Caroline Kistorp, Professor — Rigshospitalet, Denmark
- Study coordinator: Caroline Kistorp, Professor
- Email: caroline.michaela.kistorp@regionh.dk
- Phone: 35459642
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.