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

Sponsor
Núcleo de Apoio à Investigação Clínica - FMUP
Study ID
NCT07351136
Status
Not Yet Recruiting

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Conditions

Eligibility Criteria

Sex
ALL
Age
18 Years - N/A
Healthy Volunteers
Not accepted

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.

Study Details

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.

Key Dates

Start date
Jan 1, 2026
Status verified
Oct 2025
Primary completion
Jan 31, 2026
Completion
Mar 31, 2026

Study Design

Enrollment
20 participants (estimated)

Arms

  • Arm: adults with Fabry disease

Primary Outcome Measure

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 ]

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