Evaluation of Genetic-molecular Causes of Out-of-Hospital Cardiac Arrest: From Patients to Families

NCT06844851 | Recruiting

• 1 other identifier: GenetiCA
• Study Type: observational
• Target: 1,725
• Locations: 1 country
• Sites: 1

Brief Summary

The aims are to define the exact prevalence of hereditary heart diseases in out-of-hospital cardiac arrest (OHCA) patients taking also into account gender, patient and OHCA characteristics, provincial settings and environmental pollution; to stratify the individualized arrhythmic risk of proband's family members to prevent further sudden cardiac deaths; to refine the classification of the variants of uncertain significance (VUS) on genes which can have the capability to drive to molecular alterations leading to arrhythmogenic hereditary heart diseases. A blood sample will be obtained during resuscitation from all the patients aged ≤50 years suffering an OHCA in Lombardy Region and then analysed for genetic variants possibly causative of cardiac diseases. Genetic data will be merged with patient, OHCA and post-resuscitation data thanks to the connection with LombardiaCARe, whilst pollution data will be retrieved from ARPA Lombardia for free. A genetic counselling and clinical-instrumental evaluation of the proband's first-degree family members will be performed if a pathogenic/likely pathogenic variant or a VUS will be disclosed during the genetic analysis.

Conditions

Cardiac Arrest (CA)

Keywords

Out-of-hospital cardiac arrest; genetic; cardiovascular diseases

Outcome Measures

Primary Outcomes (1)

• Prevalence of pathogenic/likely-pathogenic variants

  Percentage of patients with pathogenic/likely-pathogenic variants or with variants of unknown significance (VUS) as defined by ACMG guidelines out of the total number of patients analysed

  December 2027

Secondary Outcomes (4)

• Difference in prevalence according to different provinces

  December 2027

• Difference in prevalence according to the initial rhythm

  December 2027

• Difference in prevalence across the various patient subgroups suggested by the Utstein recommendations and according to sex and level of pollutants

  December 2027

• Difference in treatment and survival in patients with and without variants

  December 2027

Study Arms (1)

OHCA patients under 50 years

All the patients suffering from OHCA of medical etiology in Lombardy Region ≤50 years, for whom resuscitation manoeuvres was started by EMS (AREU)

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

All the patients suffering from OHCA of medical etiology in Lombardy Region ≤50 years, for whom resuscitation manoeuvres was started by EMS (AREU)

You may qualify if:

• All the patients suffering from OHCA of medical etiology in Lombardy Region ≤50 years, for whom resuscitation manoeuvres was started by EMS (AREU)

You may not qualify if:

• Patients under 18 years old
• Patients with a non-medical cause of the cardiac arrest

Sponsors & Collaborators

• Fondazione IRCCS Policlinico San Matteo di Pavia: lead

Study Sites (1)

Fondazione IRCCS Policlinico San Matteo di Pavia

Pavia, Pavia, 27100, Italy

RECRUITING

MeSH Terms

Conditions

Heart Arrest; Out-of-Hospital Cardiac Arrest; Cardiovascular Diseases

Condition Hierarchy (Ancestors)

Heart Diseases

Central Study Contacts

Enrico Baldi, MD

CONTACT

+39 3293556062; enrico.baldi@unipv.it

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: MD, PhD - Principal Investigator

Study Record Dates

• First Submitted: February 20, 2025
• First Posted: February 25, 2025
• Study Start: September 9, 2021
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2027
• Last Updated: April 27, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

IT (1)