Health TrialsbyHealthPanel

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

ConditionsFabry DiseaseCardiovascular Diseases
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorCaroline Michaela Kistorp

About this trial

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

This trial accepts healthy volunteers

Qualifiers

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

≥ 18 years of age

Able to give informed consent

Disqualifiers

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

≥ 18 years of age

Trial population

1. Patients (adult) with genetically-verified diagnosis of Fabry disease. 2. Age- and sex-matched healthy controls.

Trial design

Design model

Case-control

Time perspective

Prospective

Treatments tested in this trial

  • Cardiac Magnetic Ressonance Imaging

    Diagnostic test

    CMR-protocol with gadolinium contrast

  • 82Rubidium-positron emission tomography and computer-tomography

    Diagnostic test

    cardiac Rb-PET protocol

Treatment groups

54 Participants
are divided into 2 treatment groups
Group A: Patients with Fabry Disease2 interventions
Group B: Controls2 interventions

Trial outcomes

Primary outcomes

1

Change in global myocardial flow reserve

A between-group difference in change in global myocardial flow reserve (MFR), evaluated by 82Rb-PET/CT, comparing Fabry patients with controls irrespective of the presence of LVH.

Time frame
3 year change
2

Change in global native T1

A between-group difference in change in global native T1 evaluated by MRI, comparing Fabry patients with controls irrespective of the presence of LVH.

Time frame
3 year change

Secondary outcomes

1

Change in global myocardial flow reserve by group

A between-group difference in change in global myocardial flow reserve (MFR) evaluated by 82Rb-PET/CT, comparing Fabry patients with controls accounting for the presence of LVH.

Time frame
3 year change
2

Change in global T1 by group

A between-group difference in change in global native T1 evaluated by MRI, comparing Fabry patients with controls accounting for the presence of LVH.

Time frame
3 year change
3

Change in global T2 by group

A between-group difference in change in global T2 values evaluated by MRI, comparing Fabry patients with controls accounting for the presence of LVH

Time frame
3 year change
4

Change in global T2

A between-group difference in change in global T2 values evaluated by MRI, comparing Fabry patients with controls irrespective of the presence of LVH.

Time frame
3 year change

Other outcomes

1

Change in regional myocardial flow reserve

A between-group difference in regional MFR evaluated by 82Rb-PET/CT according to the 17-segment model

Time frame
3 year change
2

Change in regional T1

A between-group difference in regional native T1 evaluated by MRI according to the 17-segment model.

Time frame
3 year change
3

Change in regional T2

A between-group difference in regional native T2 values evaluated by MRI according to the 17-segment model.

Time frame
3 year change
4

Cross-modality association

Association between regional impairment in global T1, T2 and MFR and according to the 17-segment model

Time frame
3 year change

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Caroline Michaela Kistorp

Lead sponsor

Rigshospitalet, Denmark

Sponsor institution

Sanofi

Collaborator

Source ClinicalTrials.gov
Apply now