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Molecular diagnostics of genetic predisposition to acute coronary syndrome.

Country of Origin: France
Reference Number: TOFR20171115006
Publication Date: 15 November 2017

Summary

A French laboratory has identified different mutations in a human gene correlated with a higher risk of acute coronary syndrome in comparison to the general population. These mutations could open the way to a new medical approach to genetic predisposition of cardiovascular diseases. They are currently looking for industrial partners interested in technology licensing-in and R&D collaboration (possible co-funding of technology maturation).

Description

A French laboratory which works on acute coronary syndrome has identified several mutations in a human gene correlated with a higher risk of this syndrome. 



Acute coronary syndrome (ACS) is a serious cardiovascular disease associated with high healthcare costs, frequent recurrences and hospitalizations, and high risks of sudden death and short-term mortality. ACS is classified into two main disease entities differing in their clinical characteristics, treatment approaches, and survival probabilities: myocardial infarction and unstable angina. ACS is the second leading cause of mortality in France and the first cause of premature deaths.



Hypertension, dyslipidemia, diabetes, and cigarette smoking are the traditional risk factors for ACS. The risk of developing ACS is also highly related to having a family history of coronary heart disease. A major medical and economical need is to develop predictive tests allowing to distinguish patients at risk of ACS from general population. 



The research team discovered that different germinal single nucleotide polymorphism (SNP), in a specific human gene, correlated with a higher risk of ACS in comparison to the general population. The risk to develop an ACS is 21 to 36 times higher. 



The method uses proprietary probes and specific primers directed against these mutations. DNA is collected from the lymphocytes in human blood and test can be applied on reverse dot blot stips after a simple PCR.



This predictive test will help clinicians for detecting persons at high risk of ACS at a very early stage. Clinicians will be able to initiate preventive measures: regular monitoring, coronarography and, if necessary, stenting. The family of patients who had a ACS might also be offered this genetic test.



The French laboratory looks for industrial partners such as a diagnostic company with an expertise in diagnostic kit development, specifically in cardiovascular. 



Through technology licensing-in, the diagnostic company partner will further develop and then exploit directly the technology according to the license agreement. 



Through a research cooperation agreement, both partners will work together on the maturation phase of the technology.

Advantages and Innovations

The most widely used biomarkers for ACS diagnostics are Troponins, Creatine kinase MB isoenzyme and Myoglobin. Their level is significantly high only few hours before the acute phase but they cannot be used as early predictive biomarker.

This new screening test for ACS offers many advantages:

•	First genetic marker of predisposition

•	Non-invasive (blood test) and rapid test

•	Early detection: systematic early detection of cardiovascular disease (at 40-50 years) should be recommended in upcoming years 



11 products are currently approved or in development for the ACS prediction but there is no direct competition (genetic marker of predisposition).

Stage Of Development

Under development/lab tested

Stage Of Development Comment

The study was carried out on 63 patients who have had an ACS. The mutations were present in around 11% of the group study while they are present in 0.014% of the general population.

Requested partner

The laboratory is currently looking for industrial partners interested in technology licensing-in and R&D collaboration (possible co-funding of technology maturation), for example a diagnostic company with an expertise in diagnostic kit development, specifically in cardiovascular.