NEW YORK (GenomeWeb) – After launching the "world's smallest" PCR-based diagnostic device less than two months ago, Spartan Bioscience this week announced the first official test on the system — a 30-minute cheek swab assay for mutations in the apolipoprotein E (APOE) gene.
The target market for the research-use only test is pharmaceutical companies, to help focus and speed up Alzheimer's disease-related clinical trials, Spartan's CEO Paul Lem said in an interview.
"For Alzheimer's genetics, it is known that there are two mutations which combine to make three different haplotypes — APOE2, APOE3, and APOE4," Lem said. The firm's test reports all three of these in one multiplex assay.
The Spartan Cube device is about the size of a coffee mug, and assays are PCR-based and use fluorescent probes. The fast speeds are accomplished with patented technology, integrating "DNA collection, extraction, PCR, and fluorescence detection all in one box," Lem said.
Spartan launched the Cube platform in late May, hinting at an initial menu that will include infectious disease and pharmacogenetic tests. The company plans to unveil this menu next week at the American Association of Clinical Chemistry conference in Philadelphia.
In the 10-year period between 2002 and 2012, there were 413 Alzheimer’s disease drug development trials, according to an evaluation published in Alzheimer's Research & Therapy. In that period, 244 compounds were assessed but only one was approved for marketing. Excluding the compounds in Phase 3 trials at the time of the study, the success rate of clinical trials was 0.4 percent.
"What pharma has been doing is analyzing why did all that fail, all those billions of dollars they spent, and they started realizing by going over the literature that if you look at APOE you can enrich for the patient population that is going to develop Alzheimer's," Lem said.
It is not always possible to conclusively rule out other causes of cognitive impairments, and confirm a diagnosis of Alzheimer's, until an autopsy is performed, according to the Alzheimer's Association. Limiting clinical trials to patients who are genetically predisposed to Alzheimer's is hypothesized to focus efforts on people likely to actually have the disease.
And the problem with trials now is that they take all comers, Lem said. If 100 patients are enrolled in a trial but only 30 get Alzheimer's, all the effect of the drug being tested is diluted by the 70 patients who will never get the disease, he said.
With the Spartan test, "you can run a clinical trial where you select the 30 people who are predisposed to developing Alzheimer's at a much higher rate, and therefore your drug has a much higher chance of showing an effect," Lem said.
Currently, APOE testing for clinical trials must be sent out to large core labs, with turnaround times of days to weeks.
But it is a tall order to ask Alzheimer's patients — who are often elderly and frail — to return for follow-up enrollment if it is determined that they fit the APOE requirements of a trial.
Lem said a number of multinational pharmaceutical companies have reached out to Spartan already, and the test was developed in response to their need. "The pitch we make to them is, instead of waiting a few weeks for [a large core lab] to get your results and then you can enroll patients, you can run this test and enroll patients right away," he said.
The Cube is also portable, so the test can be brought to potential trial participants in hospitals or nursing homes. Lem declined to divulge specifics about the cost of the platform or tests, but said, "One of the great things about our technology is we're making it very affordable — we think it is the most affordable platform and the most affordable test," adding that it is less expensive than core lab testing.
Spartan has been presenting the APOE test and the Cube at the Alzheimer's Association International Conference in Toronto, Canada this week.