Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

Recruiting

• Conditions: Cardiomyopathies

• Registration Number: NCT05556369
• Lead Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Brief Summary

Cardiomyopathy refers to a diverse group of myocardial diseases with multiple causes. In 1995, the World Health Organization classified cardiomyopathies into hypertrophic, dilated, restrictive, and mixed type. This classification is based on the pathophysiology of the disease. However, with rapid evolution of molecular genetics in cardiology, the American Heart Association in 2006 has classified cardiomyopathies into two major groups based on predominant organ involvement and etiology; Primary cardiomyopathies are those solely or predominantly confined to heart muscle and are relatively few in number. Secondary cardiomyopathies show pathologic myocardial involvement as part of a large number and variety of generalized systemic (multiorgan) disorders.Current evidence supports the use of genetic testing in clinical practice to improve risk stratification for clinically affected patients and their at-risk relatives for cardiomyopathies.

Detailed Description

Not available

Study Timeline

• Study Start: 2021-09-01
• Study First Submitted: 2022-09-22
• Study First Submitted QC: 2022-09-22
• Study First Posted: 2022-09-27
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-19
• Last Update Posted: 2024-04-22
• Primary Completion: 2026-09-01
• Study Completion: 2026-09-01

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 288

Inclusion Criteria

• Presence of structural cardiomyopathy
• First degree relatives for cardiomyopathy

Exclusion Criteria

• Age > 80
• Presence of sufficient conditions to explain the clinical condition of cardiomyopathy
• Peripartum cardiomyopathy

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Genetic Characterization	5 years	To perform a genetic characterization of subjects affected by structural cardiomyopathies with clinical suspicion of genetic pattern

Secondary Outcome Measures

Name	Time	Method
Genetic and phenotypic characterization of the first degree relatives	5 years	To perform a genetic and phenotypic characterization of the first degree relatives of a subject affected by genetic structural cardiomyopathy.

Trial Locations

Locations (1)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico; 🇮🇹 Milan, Lombardia, Italy