Fabry Disease
Conditions
Keywords
Fabry Disease, FAPI
Brief summary
In this work, we address the understanding of the signaling pathways involved in cardiac remodeling in human SCD through molecular imaging analysis with a fibrosis marker. Furthermore, we emphasize characterizing the cardiac remodeling process by analyzing proteomic data from SCD myocardial biopsies and by analyzing the profile of microRNAs associated with hypertrophic cardiomyopathy and their diagnostic and prognostic value.
Detailed description
The objective of this work is to explore the cardiac PET/CT imaging characteristics of cardiac fibroblast activation protein inhibitor (FAPI) and its relationship with the risk of sudden cardiac death (SCD) associated with myocardial fibrosis in SCD. We also aim to deepen our understanding of the signaling pathways involved in SCD cardiac remodeling by comparing imaging data with proteomic and microRNA data.
Interventions
PROCEDUREPET scan of 68Ga-FAPI
To assess myocardial fibroblast activation, all enrolled patients will undergo positron emission tomography/computed tomography (PET/CT) imaging using the radiotracer \[68Ga\]Ga-FAPI. This tracer binds selectively to the fibroblast activation protein (FAP), expressed predominantly in activated cardiac fibroblasts involved in pathological myocardial remodelling.
Sponsors
Núcleo de Apoio à Investigação Clínica - FMUP
Universidade do Porto
SOFIE
GE Healthcare
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Adult patients, over 18 years of age; * Diagnosis of Fabry disease
Exclusion criteria
* Refusal to participate in the study
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identify and validate novel molecular biomarkers and pathophysiological mechanisms of FD cardiomyopathy, focusing on myocardial fibrosis, inflammation, and cardiac remodelling | All enrolled patients will undergo PET/CT imaging using the radiotracer [68Ga]Ga-FAPI. This procedure will be done from October 2025 to January 2026. The data analysis will be done from January 2026 to April 2026 | The primary objective includes: * Proteomic and metabolomic profiling of myocardial biopsies from FD patients versus controls. * Circulating microRNA (miRNA) analysis in plasma samples from HCM and FD patients to define diagnostic/prognostic miRNA signatures. * Evaluation of fibroblast activation using \[68Ga\]Ga-FAPI PET/CT imaging and its association with myocardial fibrosis and sudden cardiac death risk scores. * Correlation of molecular findings with cardiac imaging and standard biomarkers (NT-proBNP, troponin). |
Outcome results
None listed