Fabry DiseaseFABRyCarNCT07351136
Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
An observational study of Fabry Disease, run by Núcleo de Apoio à Investigação Clínica - FMUP.
Trial 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… Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Fabry Disease
- What is being tested?
- PET scan of 68Ga-FAPI
- Type of treatment
- Surgery or procedure
- How many people
- 20 participants
- Where
- No sites listed yet
- Study dates
- 1 Jan 2026to 31 Mar 2026
- How long will I take part?
- 5 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Adult patients, over 18 years of age with diagnosis of Fabry disease
Who may be able to join
- Adult patients, over 18 years of age;
- Diagnosis of Fabry disease
Who cannot join
- Refusal to participate in the study
About this study
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.
Read the 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.
- Conditions
- Fabry Disease
- Being tested
- PET scan of 68Ga-FAPI
- Keywords
- Fabry Disease, FAPI
- Medical subject headings
- Fabry Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
PET scan of 68Ga-FAPIProcedure or surgery
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 group | Role | What they receive |
|---|---|---|
| adults with Fabry disease | Not described Receives: Procedure: PET scan of 68Ga-FAPI |
What is being measured
The primary outcome is the main question the study is designed to answer.
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).
Measured: 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
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Jan 2026
- Study start1 Jan 2026 (estimated)
- Primary completion31 Jan 2026 (estimated)
- Study completion31 Mar 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Fabry DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Enrolment
- 20 participants (estimated)
- Target duration
- 5 Years
Sponsor and investigators
- Lead sponsor
- Núcleo de Apoio à Investigação Clínica - FMUP
- Sponsor type
- University, hospital or other
- Collaborators
- Universidade do Porto, SOFIE, GE Healthcare
- Responsible party
- Sponsor-investigator, Núcleo de Apoio à Investigação Clínica - FMUP, Universidade do Porto
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07351136
- Sponsor's protocol ID
- FABRyCar
- Acronym
- FABRyCar
- Status last verified
- Oct 2025
- First submitted
- 9 Jan 2026
- Last updated
- 20 Jan 2026
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Jan 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Novel Diagnostic and Prognostic Predictors in Fabry Cardiomyopathy: Proof of Concept in a Rare Disease
- ClinicalTrials.gov ID
- NCT07351136
- Acronym / sponsor ID
- FABRyCar / FABRyCar
- Conditions
- Fabry Disease
- Keywords
- Fabry Disease, FAPI
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Núcleo de Apoio à Investigação Clínica - FMUPUniversity, hospital or other
- Collaborators
- Universidade do Porto, SOFIE, GE Healthcare
- Study start
- 1 Jan 2026 (estimated)
- Primary completion
- 31 Jan 2026 (estimated)
- Study completion
- 31 Mar 2026 (estimated)
- First posted
- 20 Jan 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Cross-sectional
- Target follow-up
- 5 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| adults with Fabry disease | – | Procedure: PET scan of 68Ga-FAPI |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Adult patients, over 18 years of age with diagnosis of Fabry disease
Key inclusion criteria (2 listed)
- Adult patients, over 18 years of age;
- Diagnosis of Fabry disease
Key exclusion criteria (1 listed)
- Refusal to participate in the study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| PET scan of 68Ga-FAPITo 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. | Procedure or surgery | adults with Fabry disease |
Primary outcome
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).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Jan 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
Questions about this trial
What is this clinical trial studying?
An observational study of Fabry Disease, run by Núcleo de Apoio à Investigação Clínica - FMUP.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 20 Jan 2026. Status can change between updates, so confirm with the study contact before making plans.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the 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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Jan 2026.