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Validation of a salivary miRNA diagnostic test for autism spectrum disorder

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: 2R42MH111347-02A1
Agency Tracking Number: R42MH111347
Amount: $2,245,565.00
Phase: Phase II
Program: STTR
Solicitation Topic Code: 103
Solicitation Number: PA18-575
Timeline
Solicitation Year: 2018
Award Year: 2018
Award Start Date (Proposal Award Date): 2018-09-18
Award End Date (Contract End Date): 2021-08-31
Small Business Information
505 Irving Ave, STE 3100AB
Syracuse, NY 13210-1687
United States
DUNS: 080067095
HUBZone Owned: N
Woman Owned: N
Socially and Economically Disadvantaged: N
Principal Investigator
 FRANK MIDDLETON
 (315) 464-7721
 middletf@upstate.edu
Business Contact
 RICHARD UHLIG
Phone: (607) 227-4400
Email: richard.uhlig@quadrantbiosciences.com
Research Institution
 RESEARCH FOUNDATION FOR THE STATE UNIVERSITY OF NEW YORK, THE
 
80 EATON ST
MORRISVILLE, NY 13408-2608
United States

 Domestic nonprofit research organization
Abstract

Autism spectrum disorder (ASD) is a continuum of neurodevelopmental characteristics that includes deficits in
communication and social interaction, as well as restrictive, repetitive interests and behaviors. ASD is an
increasing public health concern, with about 1 in 45 American children diagnosed with ASD in 2014, a 10-fold
increase in prevalence over the past 40 years. The effect of ASD on both society and the economy is a large
burden, estimated at more than $286 billion per year in the U.S. alone. While a single direct link to ASD
diagnosis has not been determined, studies have identified genetic, epigenetic, neurological, hormonal, and
environmental factors that affect outcomes for patients with ASD. In order to effectively treat patients with ASD,
timely detection is crucial for implementation of early treatment options. Using knowledge of these preexisting
factors for ASD, doctors can begin treatment while the patient is still young, even if the child has not begun to
exhibit typical ASD symptoms. Studies suggest that earlier treatment results in better functional outcomes and
reductions in symptoms of ASD. These models, medications and programs have proven to be effective in
managing the symptoms of ASD, and may remove some patients from the ASD spectrum entirely.
Unfortunately, current diagnostic methods for ASD are not very accurate for young children; the average age of
diagnosing ASD is three years old, and about half of those are false positives. Development of accurate
diagnostic biomarkers for ASD would thus represent a valuable addition to patient care. Quadrant Biosciences
is developing an approach to diagnose ASD by measuring brain-related and other ribonucleic acids (micro,
circular, and bacterial) in saliva. Extracellular transport of miRNA via exosomes and other microvesicles is an
established epigenetic mechanism for cells to alter gene expression in nearby cells. This has enabled
Quadrant to measure genetic material that may have originated from the central nervous system simply by
collecting saliva. This method minimizes many of the limitations associated with analysis of post-mortem brain
tissue (e.g., anoxic brain injury, RNA degradation, post-mortem interval, agonal state), or peripheral leukocytes
(relevance of expression changes, painful blood draws) employed in previous studies. Alterations in the human
microbiome (i.e., microbial communities) have also been shown to correlate with ASD. Thus, extracellular RNA
quantification in saliva provides an attractive and minimally invasive technique for biomarker identification in
children with ASD. This Phase II study will test the hypothesis that a pre-defined panel of human and non-
human RNAs will accurately determine ASD status in a cohort of 1600 children ages 18 months to 6 years.
Using prospective clinical trial methodology, with input from FDA, the project will provide data essential to the
commercialization of Quadrant’s ASD diagnostic technology, further testing the algorithm with the inclusion of
additional children and following children who are flagged with the currently utilized ASD to determine their
ultimate diagnosis.NARRATIVE
In the United States, roughly 1 in 45 children is diagnosed Autism spectrum disorder (ASD), a continuum of
neurodevelopmental deficits in communication, socialization, and other behaviors, for which early intervention
is imperative for best possible outcome. Quadrant Biosciences is developing an approach to diagnose ASD by
measuring brain-related and other ribonucleic acids in saliva, which will meet a need unaddressed by current
diagnostic methods for ASD, which are too slow to deliver definitive and accurate assessments. This avenue of
research may also lead to increased understanding of the etiology of ASD, improved therapeutic interventions,
and the ability to predict or monitor treatment responses in ASD individuals.

* Information listed above is at the time of submission. *

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