Actively Recruiting

Age: 18Years +
All Genders
Healthy Volunteers
NCT06776419

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

Led by Caroline Michaela Kistorp · Updated on 2025-04-08

54

Participants Needed

1

Research Sites

317 weeks

Total Duration

On this page

Sponsors

C

Caroline Michaela Kistorp

Lead Sponsor

S

Sanofi

Collaborating Sponsor

AI-Summary

What this Trial Is About

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.

CONDITIONS

Official Title

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

Who Can Participate

Age: 18Years +
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Male and female individuals with a genetically-verified diagnosis of Fabry disease
  • 18 years of age or older
  • Able to give informed consent
  • Age and sex-matched healthy controls aged 18 years or older
  • Healthy controls able to give informed consent
Not Eligible

You will not qualify if you...

  • Contraindications to pharmacologically induced rest-stress PET/CT such as acute coronary syndrome, severe bronchospasm, severe chronic obstructive pulmonary disease, or cardiac arrhythmia
  • Contraindications to MRI including claustrophobia, metallic foreign bodies, metallic implants, internal electrical devices, or non-MR compatible permanent makeup/tattoos
  • Pregnancy
  • Healthy controls with a genetically-verified diagnosis of Fabry disease or who are family members of such patients
  • Healthy controls with cancer expected to influence life expectancy
  • Healthy controls with known heart failure, previous stroke, or established kidney disease
  • Healthy controls with initiation or change of antihypertensive therapy within 3 months before enrollment
  • Healthy controls with known left ventricular hypertrophy as evaluated by echocardiography

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Trial Site Locations

Total: 1 location

1

Rigshospitalet

Copenhagen, Denmark, 2100

Actively Recruiting

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Research Team

C

Caroline Kistorp, Professor

CONTACT

N

Niels Høeg Brandt-Jacobsen, PhD, MD

CONTACT

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

2

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