Investigating cardiac issues in Fabry disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Rigshospitalet
  Copenhagen, Denmark Recruiting

Study contacts

• Principal investigator: Caroline Kistorp, Professor — Copenhagen University Hospital, Rigshospitalet
• Study coordinator: Caroline Kistorp, Professor
• Email: caroline.michaela.kistorp@regionh.dk
• Phone: 35459642

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.