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

NCT06813443 | Recruiting

• 2 other identifiers: CMPMIRNARC-2022-277327/RC-2024-2789983
• Study Type: observational
• Target: 700
• Locations: 1 country
• Sites: 3

Brief Summary

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.

Conditions

Cardiomyopathies; Amyloidosis Cardiac; Fabry Disease; Arrhythmogenic Cardiomyopathy; Hypertrophic Cardiomyopathy (HCM); Laminopathies; Dystrophia Myotonica; Mitochondrial Cardiomyopathy; Dilated Cardiomyopathy; Sudden Cardiac Death; Heart Transplantation; Glycogen Storage Disease; Infiltrative Cardiomyopathy; Cardiac Magnetic Resonance Imaging; Electrocardiogram; Micro RNA; Echocardiogram

Keywords

cardiomyopathy; cardiac amyloidosis; Fabry disease; hypertrophic cardiomyopathy; dilated cardiomyopathy; sudden cardiac death; arrhythmogenic cardiomyopathy; heart failure; heart transplantation

Outcome Measures

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)

  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 (2)

• Gene expression profile (transcriptomics) and microRNA analysis

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

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

  Enrollment: 30 months; Data analysis: 6 months

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study 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)

You may qualify if:

• 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)

You may not qualify if:

• none

Sponsors & Collaborators

• IRCCS Azienda Ospedaliero-Universitaria di Bologna: lead

Study Sites (3)

IRCCS Azienda Ospedaliero-Universitaria di Bologna

Bologna, Emilia-Romagna/Bologna, 40138, Italy

RECRUITING

Dipartimento di Scienze Toraciche Cardiovascolari, Fondazione Policlinico Universitario A. Gemelli IRCSS di Roma

Roma, Lazio/Roma, 00161, Italy

NOT YET RECRUITING

Azienda Ospedaliero-Universitaria Careggi di Firenze

Florence, Toscana/Firenze, 50134, Italy

NOT YET RECRUITING

MeSH Terms

Conditions

Cardiomyopathies; Amyloid Neuropathies, Familial; Fabry Disease; Cardiomyopathy, Hypertrophic; Laminopathies; Myotonic Dystrophy; Cardiomyopathy, Dilated; Death, Sudden, Cardiac; Glycogen Storage Disease; Heart Failure

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Nervous System Diseases; Amyloid Neuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Amyloidosis, Familial; Metabolism, Inborn Errors; Metabolic Diseases; Nutritional and Metabolic Diseases; Amyloidosis; Proteostasis Deficiencies; Sphingolipidoses; Lysosomal Storage Diseases, Nervous System; Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Cerebral Small Vessel Diseases; Cerebrovascular Disorders; Vascular Diseases; Genetic Diseases, X-Linked; Lipidoses; Lipid Metabolism, Inborn Errors; Lysosomal Storage Diseases; Lipid Metabolism Disorders; Aortic Stenosis, Subvalvular; Aortic Valve Stenosis; Aortic Valve Disease; Heart Valve Diseases; Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Myotonic Disorders; Cardiomegaly; Heart Arrest; Death, Sudden; Death; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Carbohydrate Metabolism, Inborn Errors

Study Officials

• Elena Biagini, MD, PhD

  IRCCS Azienda Ospedaliero-Universitaria

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Elena Biagini, MD, PhD

CONTACT

+39051214483; elena.biagini@aosp.bo.it

Silvia Palmieri, M. Sc.

CONTACT

+39051214483; silvia.palmieri@aosp.bo.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 9, 2025
• First Posted: February 7, 2025
• Study Start: February 13, 2023
• Primary Completion (Estimated): June 30, 2027
• Study Completion (Estimated): December 14, 2027
• Last Updated: February 7, 2025

Record last verified: 2024-12

Locations

IT (3)