Genetic Mapping for Cardiac Risk Assessment

• Conditions: Angina Pectoris; Myocardial Ischemia; Myocardial Infarction; Coronary Disease; Acute Coronary Syndrome
• Interventions: Biological: MULTIGENE SCREENING FOR SINGLE SNPS

• Registration Number: NCT01506999
• Lead Sponsor: Fondazione C.N.R./Regione Toscana "G. Monasterio", Pisa, Italy

Brief Summary

The main objective of the GENOCOR project (Genetic mapping for cardiac risk assessment) is the setting up of a joint public/private laboratory (GENOCOR-LAB) dedicated to the development and testing of new cost-effective technologies exploiting the growing knowledge in the genomic correlates of cardiovascular diseases (CVD) and of their evolution; the data obtained by the GENOCOR-Lab should especially orient secondary prevention and specific treatment of ischemic heart diseases (IHD).

Detailed Description

The Laboratory will be based in the premises of the CNR Institute of Clinical Physiology, a research institution operating as CVD Research Hospital System, with two Hospital Units (CNR Campus in Pisa and G. Pasquinucci Hospital in Massa).

The project is based on the cooperation of a national private company (DiaSorin, endowed with promising proprietary technologies in the novel diagnostic biotechnologies) and three research units (at clinical and molecular biology level) two from the National Research Council (IFC-CNR, Pisa and ITB-CNR, Milano, both very active in advanced biological research) and one from the University Vita-Salute San Raffaele (UHSR, Milano, operating a top range hospital and center for advanced biological research): GENOCOR Lab becomes then the first product of the cooperation within the CNR MERIT Network (MEdical Reseach in ITaly) currently being set-up by CNR.

The project is based on the availability of proprietary large scale databases of selected clinical populations that will be probed with the novel genomic and post-genomic technologies. High throughput SNPs technologies and post-genomic expression and proteomic analyses will be used to assess profiles of genetic variability identifying subjects with a distinct proneness to ischemic heart disease (IHD), hard cardiovascular events and unfavourable outcomes. Specific focusing will be made possible by the availability, within the proposed research network, of well established clinical data bases and biological sample collections, enabling the retrospective and prospective access to large and well characterised populations of patients with IHD. Cardiovascular phenotypes will include patients with acute coronary syndromes (unstable angina and acute myocardial infarction) and patients with chronic ischemic heart disease and prolonged follow-up; with this approach, it will be possible to cover both short-term and long-term evolution by detailed clinical, biohumoral and instrumental phenotyping at the time of acute events and with a systematic follow-up.

This approach should allow to overcome the major limitations and unbalance of previous studies, either focussed to small well characterized populations in which few genetic variations have been explored, or extended to large populations with a wider gene variability approach but inadequate information on phenotype and evolution disease.

Study Timeline

• Study Start: 2006-07
• Status Verified: 2012-01
• Study First Submitted: 2012-01-03
• Study First Submitted QC: 2012-01-05
• Last Update Submitted: 2012-01-05
• Study First Posted: 2012-01-10
• Last Update Posted: 2012-01-10
• Study Completion: 2012-07

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 2000

Inclusion Criteria

• Patients affected by history of IHD with a non-fatal evolution(angina or AMI as first manifestation),age at the onset of the disease (<50 o >60 years.
• Patients with acute coronary syndrome as first manifestation of coronary disease, admitted to the coronary unit within 6 hours from the onset of symptoms.

Exclusion Criteria

• Age>75
• Pregnancy
• Recent(< 6 months) cerebral ischemic attack
• Active cancer
• Inability to provide an informed consent.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Stable phase of ischemic heart disease	MULTIGENE SCREENING FOR SINGLE SNPS	patients with history of angina pectoris, or myocardial infarction
acute phase of ischemic heart disease	MULTIGENE SCREENING FOR SINGLE SNPS	patients with unstable angina or acute myocardial infarction

Primary Outcome Measures

Name	Time	Method
association studies between a panel of known SNPs of candidate genes and proneness to IHD and its prognosis;	4 years	High throughput SNPs technologies will be used to assess profiles of genetic variability identifying subjects with a distinct proneness to ischemic heart disease (IHD), hard cardiovascular events and unfavourable outcomes.
Number of participants with adverse events	maximum length of follow-up between enrollment and events or the planned end of follow-up	Major cardiac and non-cardiac events will be register for the planned lenght of follow-up

Secondary Outcome Measures

Name	Time	Method
secondary prevention and specific treatment of ischemic heart diseases (IHD)	10 years	Understanding of genetic and molecular mechanisms of the different clinical syndromes of ischemic heart disease (IHD), of its patterns of evolution and response to treatment represents a key research issue to develop innovating approaches to early diagnosis, risk classification and treatment.

Trial Locations

Locations (1)

CNR Institute of Clinical Physiology; 🇮🇹 Pisa, Italy