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

Status: Recruiting
Location: See location...
Intervention Type: Diagnostic test
Study Type: Observational
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
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: t
View:

• Male and female individuals with a genetically-verified diagnosis of Fabry disease

• ≥ 18 years of age

• Able to give informed consent

• ≥ 18 years of age

• Able to give informed consent

Locations
Other Locations
Denmark
Rigshospitalet
RECRUITING
Copenhagen
Contact Information
Primary
Caroline Kistorp, Professor
caroline.michaela.kistorp@regionh.dk
35459642
Backup
Niels Høeg Brandt-Jacobsen, PhD, MD
niels.hoeeg.brandt-jacobsen.01@regionh.dk
35458177
Time Frame
Start Date: 2025-05-01
Estimated Completion Date: 2031-06-01
Participants
Target number of participants: 54
Treatments
Patients with Fabry Disease
Patients with a genetically verified diagnosis of Fabry disease, grouped by the presence of left ventricular hypertrophy
Controls
Healthy age- and sex-matched controls
Related Therapeutic Areas
Sponsors
Leads: Caroline Michaela Kistorp
Collaborators: Sanofi

This content was sourced from clinicaltrials.gov