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

NCT07351136 | Not Yet Recruiting DMC

• 1 other identifier: FABRyCar
• Study Type: observational
• Target: 20
• Locations: 0 countries
• Sites: N/A

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.

Conditions

Fabry Disease

Keywords

Fabry Disease; FAPI

Outcome Measures

Primary Outcomes (1)

• Identify and validate novel molecular biomarkers and pathophysiological mechanisms of FD cardiomyopathy, focusing on myocardial fibrosis, inflammation, and cardiac remodelling

  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

Study Arms (1)

adults with Fabry disease

Procedure: PET scan of 68Ga-FAPI

Interventions

PET scan of 68Ga-FAPI PROCEDURE

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.

adults with Fabry disease

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

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

You may not qualify if:

• Refusal to participate in the study

Sponsors & Collaborators

• Núcleo de Apoio à Investigação Clínica - FMUP: lead
• SOFIE: collaborator
• Universidade do Porto: collaborator
• GE Healthcare: collaborator

MeSH Terms

Conditions

Fabry Disease

Condition Hierarchy (Ancestors)

Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Cardiovascular Diseases; Genetic Diseases, X-Linked; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolism, Inborn Errors; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Lipid Metabolism Disorders

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Target Duration: 5 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR INVESTIGATOR
• PI Title: Elisabete Martins

Study Record Dates

• First Submitted: January 9, 2026
• First Posted: January 20, 2026
• Study Start: January 1, 2026
• Primary Completion: January 31, 2026
• Study Completion: March 31, 2026
• Last Updated: January 20, 2026

Record last verified: 2025-10