ClinicalTrials.gov record NCT07351136

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

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

About this page. This page shows the study's official ClinicalTrials.gov record ↗, with added help to make it easier to understand. We explain medical terms, highlight key details in plain language, and suggest questions you may want to ask the study team.

The record is periodically copied from ClinicalTrials.gov and may lag behind changes. AI summaries are checked by software, not a clinician.Read moreShow less

The official record is written by the study sponsor and published on ClinicalTrials.gov. It may not always reflect the latest changes. Before making any decisions, please confirm important information with the study team and your own healthcare team.

Where you see "AI summary", AI was used to create a plain-language explanation and software checked it against the source. It has not been reviewed by a clinician, so it may contain mistakes or leave out important details.

StatusNot yet recruitingThe study has been registered but has not started enrolling. Sites and contacts may not be listed yet.

Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.

Age18 years old and older

SexAll

AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study in adults with Fabry Disease combines a PET/CT scan using [68Ga]Ga-FAPI with molecular analyses. Researchers will compare imaging findings with myocardial proteomic/metabolomic data, circulating microRNA profiles, and standard biomarkers (NT‑proBNP, troponin). The goal is to explore links between fibroblast activation, myocardial fibrosis, cardiac remodelling, and sudden cardiac death risk.

What it is studying. Tests relationships among fibroblast activation on [68Ga]Ga-FAPI PET/CT, myocardial proteomic/metabolomic changes, circulating microRNA signatures, and standard cardiac biomarkers, and how these relate to myocardial fibrosis and sudden cardiac death risk.

What the researchers hope to learn. Identify and validate molecular biomarkers and pathophysiological mechanisms in Fabry cardiomyopathy, with emphasis on myocardial fibrosis, inflammation, and cardiac remodelling; perform proteomic/metabolomic profiling of myocardial biopsies versus controls; define diagnostic or prognostic circulating microRNA signatures; evaluate fibroblast activation by [68Ga]Ga-FAPI PET/CT and its association with myocardial fibrosis and sudden cardiac death risk scores; correlate molecular findings with imaging and standard biomarkers (NT‑proBNP, troponin).

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Interventions being studied

Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.

Procedure: PET scan of 68Ga-FAPI

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

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

Exclusion criteria

Refusal to participate in the study

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

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.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants will undergo a PET/CT scan using the radiotracer [68Ga]Ga-FAPI to image fibroblast activation in the heart. They will provide blood (plasma) samples for circulating microRNA analysis. The study also includes proteomic and metabolomic analysis of myocardial biopsy tissue, but the registry record does not say whether new biopsies will be taken as part of the study or whether existing biopsy samples will be used. The record does not specify a detailed visit schedule or other procedures beyond those described, though imaging and molecular findings will be compared with standard cardiac biomarkers (NT-proBNP, troponin).

How the study is structured. A cross-sectional observational cohort. Enrolled adults with Fabry Disease will undergo a PET/CT scan using the radiotracer [68Ga]Ga-FAPI. Researchers will perform proteomic and metabolomic analyses on myocardial biopsy material and analyze circulating microRNA in plasma, then compare these molecular findings with the imaging results and standard biomarkers (NT‑proBNP, troponin). The registry lists PET/CT imaging from October 2025 to January 2026 and data analysis from January 2026 to April 2026.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
The registry says recruitment has not started. When is it expected to open, and can I register interest now?
No sites are listed on the registry yet. Where will the study take place?
Which of the eligibility criteria would need to be checked with tests before I could join?

More on Fabry disease

Clinical trials47 trials listed for Fabry diseaseEvery trial the registry lists for Fabry disease, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in Fabry disease researchLatest monthly update: September 2026. Includes: SGLT2 outcome link. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start: Jan 1, 2026 (estimated)
Primary completion: Jan 31, 2026 (estimated)
Study completion: Mar 31, 2026 (estimated)
Target enrollment: 20 participants (estimated)
Last updated on registry: Jan 20, 2026
Data verified: Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor: Núcleo de Apoio à Investigação Clínica - FMUP
Collaborators: Universidade do Porto
SOFIE
GE Healthcare

Participating sites

Study locations have not been posted on ClinicalTrials.gov yet. This study is not yet recruiting, so sites may be added when recruitment begins.

Terms used on this page · explanations by MedicalUpdates.ai

Inclusion Criteria: The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
Exclusion Criteria: The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
PET/CT: A scan in which a small amount of a radioactive tracer is injected so that activity in tissues can be seen. Often combined with a CT or MRI scan.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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