Clinical validation of the early diagnosis test of colorectal cancer "colohybritest" – ValiHybritest

Cancers constitute the first cause of death in the developed countries where they are responsible for a dramatic level of health expenses. The improvement of the forecast and the decrease of the costs generated by the colorectal cancer (CCR), which is became one of the most frequent cancers, passes by the availability of devices, no expensive, allowing to establish early diagnosis.

The colonoscopy (of high direct cost), which is the reference method of detection of tumors in the colon or rectum, is proposed to those having a symptom or a positive faecal occult blood test (FOBT). This test is performed within the framework of the mass screening. However, FOBT is very has sever limitations because of the high percentage (50 %) of fault positive and of false negatives. Thus, there is a real opportunity for the creation of tests of molecular diagnosis of the CCR with higher sensitivity and a higher specificity.

These tests represent an enormous market. The French group of academic hospitals in Paris (APHP) has patented a new test in the serum based on DNA methylation. This test identifies subjects with high risk of CCR. It is based on the revealing abnormalities of methylation of WIF1 gene in the blood and\or the stools.

Profilome, young start-up, prize-winner 2008 of the national competition of new business start-ups, is developing this test in the market. A new Multiplex (targeting several genes) test aims now improving the performances in terms of sensitivity and specificity of the test Monoplex WIF1. This new test has been financially supported by ANR (Bio emergence 2008; Colohybritest project of the Pr. I. Sobhani). It consists in a unique PCR including a very sensitive target and a very specific target of the CCR to obtain better sensitivity without altering specificity of Monoplex WIF1 test. The Profilome Company, in partnership with the APHP, is in charge of leading these tests.

During the present project two requirements will be addressed before the phase of marketing. One concerns the use of a validated CEE device for stool sampling (actually calibrated by Mast-Diagnostic Eiken-Japon Company for measuring occult blood by using immunological automated method). Profilome aims to use this device for DNA collect from stools prior to Multiplex analysis in clinical trial. The second gaol is to validate on the sensitivity and specificity of the Multiplex in blood in reference to the colonoscopy. So the performances of a test based on the hypermethylation of faecal DNA will be compared with the faecal concentration of occult blood and in reference to the colonoscopy. The partnership with the institutional team of Pr. Sobhani will allow conducting this trial in asymptomatic subjects or in those individuals referred to the colonoscopy because having mild symptoms.