Evaluation of genetic-molecular causes of out-of-hospital cardiac arrest - from patients to families: the GenetiCA study.
Arianna Morena, Sara Bendotti, Annapaola D'Ambrosio...
https://pubmed.ncbi.nlm.nih.gov/42199521/Actively Recruiting
Led by Fondazione IRCCS Policlinico San Matteo di Pavia · Updated on 2026-04-27
1725
Participants Needed
1
Research Sites
N/A
Total Duration
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
Evaluation of Genetic-molecular Causes of Out-of-Hospital Cardiac Arrest: From Patients to Families
E
Enrico Baldi, MD
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Fondazione IRCCS Policlinico San Matteo di Pavia
Lead Sponsor
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Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person or via EMS contact)
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
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
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
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
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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Arianna Morena, Sara Bendotti, Annapaola D'Ambrosio...
https://pubmed.ncbi.nlm.nih.gov/42199521/Fondazione IRCCS Policlinico San Matteo di Pavia
Lead Sponsor