Whole blood filter paper assay for Alzheimers Disease - BioSpyder proposes to develop and validate a classifier test for Alzheimer’s Disease (AD) that may also
classify other dementias. This Diversity supplement will extend the scope to include a test for Parkinson’s
Disease (PD). BioSpyder intends to market these tests as RUO products initially, then pursue the development
of definitive in vitro diagnostic (IVD) tests, addressing a major unmet need. In Phase I, a classifier was
demonstrated using whole blood obtained from a finger-stick, spotted on filter paper, and assayed using the
whole transcriptome TempO-Seq® gene expression assay (the WBFP TempO-Seq assay). This approach
produced signatures for both AD and PD, enabling the construction of a classifier that initially identified each
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 being 1 in 5
for women and 1 in 10 for men. Mild cognitive impairment (MCI) can be noticed years before those patients
can be diagnosed with AD or another dementia, resulting in years of uncertainty, lack of treatment, and lost
time to prepare for a future with AD. That diagnosis requires cognitive testing administered by a neurologist,
preferably confirmed 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, along with the need for drawing blood or collecting cerebral spinal fluid. Thus, the unmet need for a
definitive IVD persists. 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 diversity supplement will carry this out for PD.
These tests will be marketed for RUO use to identify novel therapeutic targets, characterize the progression
from MCI to AD and PD, facilitate drug discovery efforts and aid in selection/classification of patients, and
potentially for development as companion diagnostic tests. If the WBFP TempO-Seq AD, PD, or pan-dementia
tests receive FDA clearance, they will be transformative, providing a definitive diagnosis of AD, PD, or other
dementias. This could potentially happen before a diagnosis through cognitive testing can be made, and
importantly, enabling self-collection of samples to address health disparities.
