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| Name | Class |
|---|---|
| Universidade do Porto | OTHER |
| SOFIE | INDUSTRY |
| GE Healthcare | INDUSTRY |
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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| adults with Fabry disease |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Identify and validate novel molecular biomarkers and pathophysiological mechanisms of FD cardiomyopathy, focusing on myocardial fibrosis, inflammation, and cardiac remodelling | The primary objective includes:
| 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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Inclusion Criteria:
Exclusion Criteria:
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Adult patients, over 18 years of age with diagnosis of Fabry disease
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| ID | Term |
|---|---|
| D000795 | Fabry Disease |
| ID | Term |
|---|---|
| D013106 | Sphingolipidoses |
| D020140 | Lysosomal Storage Diseases, Nervous System |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
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|
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D059345 | Cerebral Small Vessel Diseases |
| D002561 | Cerebrovascular Disorders |
| D014652 | Vascular Diseases |
| D002318 | Cardiovascular Diseases |
| D040181 | Genetic Diseases, X-Linked |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008064 | Lipidoses |
| D008052 | Lipid Metabolism, Inborn Errors |
| D016464 | Lysosomal Storage Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D052439 | Lipid Metabolism Disorders |