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Characterization of Patients With Cardiomyopathy to Identify Critical Patients Candidates for Cardiac Transplantation

ConditionsCardiomyopathiesAmyloidosis CardiacFabry DiseaseArrhythmogenic CardiomyopathyHypertrophic Cardiomyopathy (HCM)LaminopathiesDystrophia MyotonicaMitochondrial CardiomyopathyDilated CardiomyopathySudden Cardiac DeathHeart TransplantationGlycogen Storage DiseaseInfiltrative CardiomyopathyCardiac Magnetic Resonance ImagingElectrocardiogramMicro RNAEchocardiogram
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age12+
SponsorIRCCS Azienda Ospedaliero-Universitaria di Bologna

About this trial

The study aims to identify new diagnostic and prognostic markers for CMP that can help predict disease progression. In particular, the study will focus on microRNAs (miRNAs) and spatial transcriptomics, which are emerging techniques that may provide insights into the underlying disease mechanisms. By understanding these markers, the investigators hope to improve the way the investigators diagnose and manage CMP, particularly in terms of predicting progression to heart failure or heart transplantation.

The study will evaluate patients with hypertrophic cardiomyopathy (e.g., sarcomeric forms, Anderson-Fabry disease, AL, and TTR cardiac amyloidosis), dilated cardiomyopathy and arrhythmogenic cardiomyopathy. These patients will undergo clinical evaluations, including ECG, echocardiograms, CMR, biopsy analysis, and genetic testing, as well as molecular studies such as transcriptomics and miRNA analysis. This comprehensive approach aims to identify potential new biomarkers for diagnosing and predicting the disease course.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

Patients diagnosed with CMP according to current international guidelines

Age ≥ 12 years at the time of diagnosis

Obtaining informed consent from the patient and the parent or legal guardian (in the case of patients aged < 18 years)

Disqualifiers

none

Trial population

The study plans to enroll a population of 700 patients affected by CMP evaluated both in the inpatient and outpatient regime, at * IRCCS AOUBO (n=520) * Azienda Ospedaliero-Universitaria Careggi of Florence (n=90) * Department of Thoracic Cardiovascular Sciences, Fondazione Policlinico Universitario A. Gemelli IRCSS of Rome (n=90)

Trial design

Design model

Cohort

Time perspective

Other

Treatments tested in this trial

Not listed

Trial groups

No trial groups listed

Trial outcomes

Primary outcomes

1

risk stratification

Accuracy of clinical, instrumental, histological, and molecular variables in identifying critical CMP patients or those at risk of organ transplantation. For each marker and their combinations, specificity, sensitivity, and AUC will be assessed. Unit of Measurement: sensitivity, specificity, and Area Under the Curve (AUC)

Time frame
Enrollment in the prospective phase and collection of data for the retrospective phase: 30 months; Follow-up: 2 years, Data analysis: 6 months

Secondary outcomes

1

Gene expression profile (transcriptomics) and microRNA analysis

The tissues analyzed will consist of blood (plasma microRNA) and cardiac tissue (MicroRNA Quantification and Spatial Transcriptomics) on endomyocardial biopsy/cardiac surgery samples performed for diagnostic/therapeutic purposes. These analysis will allow us to evaluate transcripts specific to each cell and/or small groups of cells by mapping their location within the tissue organization. Gene expression data will be explored in association with the tissue images using dedicated analysis software Unit of Measurement: number of miRNA copies/µL

Time frame
Enrollment in the prospective phase: 30 months, Follow-up: 2 years, Data analysis: 6 months
2

AL (Light Chain Amyloidosis) vs TTR (Transthyretin) differential diagnosis in cardiac amyloidosis

Development of a diagnostic model integrating clinical (NYHA class), instrumental (left ventricle mass in g/m², BNP in pg/mL, Troponin in ng/dL), and molecular (miRNA copies/µL) variables to differentiate AL vs TTR cardiac amyloidosis. Unit of Measurement: sensitivity, specificity, and Area Under the Curve (AUC)

Time frame
Enrollment: 30 months; Data analysis: 6 months

Other outcomes

Sponsors and contacts

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IRCCS Azienda Ospedaliero-Universitaria di Bologna

Lead sponsor

Source ClinicalTrials.gov
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