Actively Recruiting

Age: 18Years - 50Years
All Genders
ID06844851

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

Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2026-04-27

1725

Participants Needed

1

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

This research aims to understand the genetic and molecular causes of out-of-hospital cardiac arrest (OHCA) in patients aged 50 years or younger. It focuses on determining how common hereditary heart diseases are among these OHCA patients by considering factors like gender, patient characteristics, location, and environmental pollution. The study also seeks to assess the risk of arrhythmias in family members of affected patients to help prevent sudden cardiac deaths and to improve the classification of uncertain genetic variants linked to these heart conditions. Patients aged 50 years or younger who suffer an OHCA of medical cause in the Lombardy Region and receive resuscitation from emergency medical services (EMS) will have a blood sample collected during resuscitation. This blood will be analyzed to identify genetic variants related to heart diseases using advanced gene panels. If genetic findings reveal certain variants, family members of the patient will be offered genetic counseling and clinical evaluations, including heart tests. Data from the genetic analysis and clinical information from both patients and family members will be combined and studied. Participants will have their genetic and clinical data collected and merged with pre-hospital, treatment, and post-resuscitation information. Family members identified with concerning genetic variants will undergo heart screenings and possible genetic tests. The study will measure the prevalence of specific genetic variants by the end of 2027 and compare differences based on location, gender, initial heart rhythm, and pollution levels. Survival differences related to genetic findings will also be examined, with all data securely stored and managed throughout the study.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 18Years - 50Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Patients aged 50 years or younger
  • Patients who suffered an out-of-hospital cardiac arrest (OHCA) of medical cause in Lombardy Region
  • Resuscitation manoeuvres started by emergency medical services (EMS) for the OHCA
Not Eligible

You will not qualify if you...

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

AI-Screening

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person or via EMS contact)

Sample Collection

Duration - Ongoing during resuscitation events

Blood samples are collected by EMS personnel during resuscitation maneuvers for genetic analysis.

Blood drawn during EMS intervention; no additional visits required

Genetic Analysis

Duration - Variable, following sample collection

Laboratory performs DNA extraction and sequencing to identify genetic variants associated with cardiac arrest.

No participant visits; conducted in laboratory

Family Evaluation

Duration - Variable depending on findings and family participation

If a potentially pathogenic variant is identified, first-degree family members are invited for genetic counseling, clinical evaluation, and possible genetic testing.

1 to 2 visits (in-person) for genetic counseling and clinical assessments

Long-term Monitoring

Duration - Up to December 2027

Data on treatment, survival, and clinical outcomes are collected over time for participants and family members.

Periodic follow-up visits depending on clinical need

Trial Site Locations

Total: 1 location

1

Fondazione IRCCS Policlinico San Matteo di Pavia

Pavia, Pavia, Italy, 27100

Actively Recruiting

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Research Team

E

Enrico Baldi, MD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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