Genetic Characterization of Cardiomyopathies (POLICARDIOMIO2021)

NCT05556369 | Recruiting

• 1 other identifier: 2385
• Study Type: observational
• Target: 288
• Locations: 1 country
• Sites: 1

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.

Conditions

Cardiomyopathies

Keywords

Cardiomyopathy; Hypertrophic; Dilated; ARVD; Restrictive; NGS; Gene mutation

Outcome Measures

Primary Outcomes (1)

• Genetic Characterization

  To perform a genetic characterization of subjects affected by structural cardiomyopathies with clinical suspicion of genetic pattern

  5 years

Secondary Outcomes (1)

• Genetic and phenotypic characterization of the first degree relatives

  5 years

Study Arms (1)

Single Arm Study

The study involves the execution of a genetic analysis using a panel of 54 genes conducted on blood obtained from peripheral venous sampling, the collection of clinical / instrumental / biological data in a dedicated prospective register in the form of a pseudo-anonymized database and the follow-up clinical up over time of patients. The study also provides for the execution of: a cardiological examination with electrocardiogram, Echocardiogram-color doppler and Basic blood tests: CBC, renal function, electrolytes, hepatic profile, NT-proBNP, lipid profile.

Eligibility Criteria

• Age: 18 Years - 80 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient referred to Cardiology Department of Policlinico di Milano for the diagnosis of suspicious Cardiomyopathy or First degree relatives for cardiomyopathy.

You may qualify if:

• Presence of structural cardiomyopathy
• First degree relatives for cardiomyopathy

You may not qualify if:

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

Sponsors & Collaborators

• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico: lead

Study Sites (1)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Milan, Lombardy, 20122, Italy

RECRUITING

MeSH Terms

Conditions

Cardiomyopathies; Hypertrophy; Dilatation, Pathologic

Condition Hierarchy (Ancestors)

Heart Diseases; Cardiovascular Diseases; Pathological Conditions, Anatomical; Pathological Conditions, Signs and Symptoms

Central Study Contacts

Stefano Carugo, Principal Investigator

CONTACT

+39 0255033579; stefano.carugo@policlinico.mi.it

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: September 22, 2022
• First Posted: September 27, 2022
• Study Start: September 1, 2021
• Primary Completion (Estimated): September 1, 2026
• Study Completion (Estimated): September 1, 2026
• Last Updated: April 22, 2024

Record last verified: 2024-04

Locations

IT (1)