Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease (FABRyCar)

January 9, 2026 updated by: Núcleo de Apoio à Investigação Clínica - FMUP
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.

Study Overview

Status

Not yet recruiting

Conditions

Intervention / Treatment

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.

Study Type

Observational

Enrollment (Estimated)

20

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Adult patients, over 18 years of age with diagnosis of Fabry disease

Description

Inclusion Criteria:

  • Adult patients, over 18 years of age;
  • Diagnosis of Fabry disease

Exclusion Criteria:

  • Refusal to participate in the study

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
adults with Fabry disease
Procedure: PET 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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identify and validate novel molecular biomarkers and pathophysiological mechanisms of FD cardiomyopathy, focusing on myocardial fibrosis, inflammation, and cardiac remodelling
Time Frame: 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).
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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Núcleo de Apoio à Investigação Clínica - FMUP

Collaborators

GE Healthcare
Universidade do Porto
SOFIE

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

January 1, 2026

Primary Completion (Estimated)

January 31, 2026

Study Completion (Estimated)

March 31, 2026

Study Registration Dates

First Submitted

January 9, 2026

First Submitted That Met QC Criteria

January 9, 2026

First Posted (Actual)

January 20, 2026

Study Record Updates

Last Update Posted (Actual)

January 20, 2026

Last Update Submitted That Met QC Criteria

January 9, 2026

Last Verified

October 1, 2025

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • FABRyCar

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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