With its first US patent set to be issued, molecular diagnostics newcomer Diamir is aiming to commercialize its first product, a microRNA-based test for the early detection of mild cognitive impairment (MCI), as early as 2015, the company's top official said this week.
Meanwhile, the firm is continuing its efforts to validate its discoveries thus far, laying the groundwork for additional studies that can validate and expand upon data suggesting that the expression of certain miRNAs can be used to predict the progression of MCI to other disorders such as Alzheimer's disease, Diamir CEO Kira Sheinerman told Gene Silencing News.
Founded in 2009, Diamir's core technology relates to the detection and analysis of miRNAs in plasma. While the company sees this technology as having potential in a variety of indications, it has thus far been focused on linking miRNA signatures with neurodegenerative disease.
Ultimately, Diamir aims to develop tests that can be used ahead of neuroimaging and cerebrospinal fluid analyses, which can be costly and invasive, and therefore face reimbursement and patient compliance hurdles, Sheinerman said.
"We would like to see our technology [used] as a tool for primary screening," she said, "which would enable more efficient enrollment into clinical trials and early [therapeutic] intervention," for instance.
In the near term, the company has set its sights on a lab-developed test for MCI, which Sheinerman said could be available to researchers and clinicians through a CLIA lab within 12 to 15 months.
Already, the company has data supporting such a product, reporting with collaborators at the Roskamp Institute that brain-enriched plasma miRNAs, one of which is enriched in synapses and neuritis, could differentiate patients with MCI from age-matched controls when paired with normalizer miRNAs.
According to that paper, which appeared in September 2012 in Aging, the miR-132 family and miR-134 miRNA families, paired with miR-491-5p and miR-370, respectively, could be used to identify MCI patients one to five years before clinical diagnosis with sensitivity of around 79 percent and specificity of up to 100 percent.
More recently, company researchers published in Aging the results of a validation study in larger independent sets of patients, finding that expression of miR-132 family members could differentiate between MCI and age-matched controls with 84 to 94 percent sensitivity and 96 to 98 percent specificity. The miR-134 biomarkers, meantime, offered 74 to 88 percent sensitivity and 80 to 92 percent specificity.
"When miRNAs of the same family were combined, miR-132 and miR-134 family biomarkers demonstrated 96 percent and 87 percent overall accuracy, respectively," according to the latest paper.
Although these data were obtained through relatively small trials, they are "very encouraging," Sheinerman said. As such, "we would like to analyze a much larger number of longitudinal samples" and are in discussions with other research groups about conducting such work.
Should the outcome of these studies be positive, Diamir expects to move ahead with plans to launch an MCI assay, initially in partnership with a contract lab, she added.
Importantly for its commercial aspirations, Diamir has recently received a notice of allowance from the US Patent and Trademark Office for a key patent application that covers its miRNA analysis approach and its clinical use.
Entitled "Methods of Using Small RNA from Bodily Fluids for Diagnosis and Monitoring of Neurodegenerative Diseases," the patent application (No. 20120252693) claims the "detection of neuronal pathologies using quantitative analysis in bodily fluids of synapse and/or neurite small RNAs." It also covers the application of such methods for the "early diagnosis and monitoring of neurodegenerative diseases and other neurological disorders."
Given the recent US Supreme Court decision that human genes cannot be patented, it is uncertain whether intellectual property covering specific naturally occurring miRNAs will prove enforceable. And for its part, Diamir believes such IP will not offer "as strong a position as [the one] we are taking," Sheinerman said
"We are creating something. We are putting into our process a number of innovative ideas … [and] this is what we believe makes our IP strong," she added.
Meanwhile, the company is exploring the possibility of developing more specific tests that could not only identify patients who will develop MCI, but pinpoint those whose MCI will progress into related conditions, Sheinerman said.
Given that MCI is a "heterogeneous condition," Diamir and its collaborators at Roskamp are also investigating whether miRNA signatures can be used to differentiate which MCI sufferers will progress to Alzheimer's disease, for instance, or to monitor the effects of treatment, she said.