Genetic Mapping for Cardiac Risk Assessment (GENOCOR)

GENOCOR Project-Laboratory of Genetic Mapping for Assessment of Cardiovascular Risk(GENOCOR LAB)

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).

Study Overview

• Status: Unknown
• Conditions: Myocardial Infarction; Myocardial Ischemia; Coronary Disease; Angina Pectoris; Acute Coronary Syndrome
• Intervention / Treatment: Biological: MULTIGENE SCREENING FOR SINGLE SNPS

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 Type: Observational
• Enrollment (Anticipated): 2000

Contacts and Locations

Study Locations

• Italy
  • Pisa, Italy, 56123
    • Recruiting
    • CNR Institute of Clinical Physiology
    • Contact: Clara Carpeggiani, MD; Phone Number: 00390503152005; Email: clara@ifc.cnr.it
    • Principal Investigator: Clara Carpeggiani, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 71 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients affected by ischemic heart disease (IHD) with a non-fatal evolution. Patients with acute coronary syndrome

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

3

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Stable phase of ischemic heart disease; patients with history of angina pectoris, or myocardial infarction	Biological: MULTIGENE SCREENING FOR SINGLE SNPS; DNA will be genotyped employing a multicolour assay system for SNPs based on TaqMan MGB (Minor Groove Binder) probes.
acute phase of ischemic heart disease; patients with unstable angina or acute myocardial infarction	Biological: MULTIGENE SCREENING FOR SINGLE SNPS; DNA will be genotyped employing a multicolour assay system for SNPs based on TaqMan MGB (Minor Groove Binder) probes.
control group; subjects without ischemic heart disease (IHD)

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
association studies between a panel of known SNPs of candidate genes and proneness to IHD and its prognosis;	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.	4 years
Number of participants with adverse events	Major cardiac and non-cardiac events will be register for the planned lenght of follow-up	maximum length of follow-up between enrollment and events or the planned end of follow-up

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
secondary prevention and specific treatment of ischemic heart diseases (IHD)	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.	10 years

Collaborators and Investigators

• Sponsor: Fondazione C.N.R./Regione Toscana "G. Monasterio", Pisa, Italy
• Collaborators: Ministry of Education, Universities and Research, Italy

Publications and helpful links

General Publications

• Carpeggiani C, Michelassi C, Landi P, L'Abbate A. Long-term prognosis of unheralded myocardial infarction vs chronic angina; role of sex and coronary atherosclerosis burden. BMC Cardiovasc Disord. 2018 Jul 31;18(1):156. doi: 10.1186/s12872-018-0890-5.

Study record dates

Study Major Dates

• Study Start: July 1, 2006
• Study Completion: July 1, 2012

Study Registration Dates

• First Submitted: January 3, 2012
• First Submitted That Met QC Criteria: January 5, 2012
• First Posted (Estimate): January 10, 2012

Study Record Updates

• Last Update Posted (Estimate): January 10, 2012
• Last Update Submitted That Met QC Criteria: January 5, 2012
• Last Verified: January 1, 2012

More Information

Terms related to this study

• Keywords: Genetic; Myocardial Infarction; SNPs; Angina Pectoris; Cardiovascular Risk Factors
• Additional Relevant MeSH Terms: Pathologic Processes; Necrosis; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Pain; Neurologic Manifestations; Chest Pain; Myocardial Infarction; Infarction; Myocardial Ischemia; Coronary Disease; Ischemia; Acute Coronary Syndrome; Angina Pectoris
• Other Study ID Numbers: GENOCOR