Whole blood filter paper assay for Alzheimers Disease

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SUMMARY BioSpyder proposes to develop and validate a classifier test for Alzheimer’s Disease (AD) that may also classify other dementias. Biospyder will market this as an RUO, then pursue development as a definitive in vitro diagnostic (IVD) test, addressing a major unmet need. The program is based on a very successful Phase I. It was found that a classifier using whole blood from a finger-stick spotted on filter paper and assayed using the whole transcriptome TempO-Seq® gene expression assay (the WBFP TempO-Seq assay) produced signatures for both AD and Parkinsons’s Disease that permitted a classifier to be built that identified each initially with 87% accuracy. After retraining with additional AD samples, the WBFP TempO-Seq AD classifier identified 100% of an independent testing cohort of AD samples correctly, and identified immune cell functional pathways underlying the signature. AD is the most common form of dementia, with the risk of developing AD 1 in 5 for women, 1 in 10 for men. Mild cognitive impairment (MCI) can be noticed years before those patients can be diagnosed with AD or another dementia, years of uncertainty, no treatment, lost time to prepare for a future with AD. That diagnosis requires cognitive testing administered by a neurologist, with in some cases confirmation by a -amyloid PET scan. Biomarker immunoassays recently cleared under the Breakthrough Device designation are not definitive and require cognitive testing or a -amyloid PET scan for diagnosis, and require drawing blood or collecting cerebral spinal fluid. Thus, the still unmet need for a definitive IVD. In this Phase II we will validate the performance of the WBFP TempO-Seq assay to classify AD patients, ability to classify patients with other dementias, establish how early after presenting with MCI patients can be identified with AD, correlate the WBFP TempO-Seq assay classification to -amyloid PET scans and immunoassay, implement/validate performance of a focused WBFP TempO-Seq AD or pan-dementia test, and prepare the materials for, and meet with, the FDA in a pre-IDE meeting to discuss the studies required for an application for clearance as an IVD. The WBFP TempO-Seq whole transcriptome, focused, AD and focused pan-dementia tests will be marketed for RUO use to identify novel therapeutic targets, characterize the progression from MCI to AD, facilitate drug discovery efforts and selection/classification of patients, and potentially for development as companion diagnostic tests. If the WBFP TempO-Seq AD or pan-dementia tests are FDA cleared, they will be transformative, not just by providing a definitive diagnosis of AD or other dementias, but potentially by providing that diagnosis before a diagnosis by cognitive testing can be made, and as importantly, by enabling self-collection of samples to address health disparities in families and populations that do not have affordable or easy access to a neurologist. If providing early, definitive diagnosis, any clinic or physician (or family members) can evaluate persons for AD and potentially other dementias, broadening the network able to provide diagnosis and focusing the role of the neurologist onto therapy and care.