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Development of an Autism Spectrum Disorder Screening Test based upon Metabolic Profiling of Fresh Blood Samples

Award Information
Agency: Department of Health and Human Services
Branch: National Institutes of Health
Contract: 1R41MH115642-01
Agency Tracking Number: R41MH115642
Amount: $931,499.00
Phase: Phase I
Program: STTR
Solicitation Topic Code: 102
Solicitation Number: PA16-302
Solicitation Year: 2016
Award Year: 2018
Award Start Date (Proposal Award Date): 2018-04-13
Award End Date (Contract End Date): 2020-09-30
Small Business Information
Greenwood, SC 29649-9534
United States
DUNS: 964241173
HUBZone Owned: No
Woman Owned: No
Socially and Economically Disadvantaged: No
Principal Investigator
 (864) 980-7100
Business Contact
Phone: (864) 980-7100
Research Institution
GREENWOOD, SC 29646-2316
United States

 Domestic nonprofit research organization

Autism spectrum disorderASDis a neurodevelopmental disorder characterized by significant deficits in reciprocal social interactionsimpaired communication and restrictedrepetitive behaviorswith a prevalence ofinchildren in the USEarly intervention programs have been shown to be effective for improving IQlanguageand social skills for toddlers as young asmonths of ageDiagnosis of ASD is currently based solely on clinical and parental observationsas a laboratory based diagnostic test for ASD based on robust biomarkers does not exist currentlyOur team previously demonstrated that lymphoblastoid cell linesLCLsfrom individuals with ASD generate reduced metabolic activity when the amino acid tryptophan is the only available energy sourcerelative to typically developingTDcontrolsIn a recent evaluation ofASD andTD cell lines from individuals agedtoa classifier utilizing a Bootstrap aggregation approach based upon tryptophan and an expanded series of ions was able to properly classify individual cell lines with both a sensitivity and specificity ofrelative to the clinical diagnosisThe classifier showed better performance in the younger age groupsparticularly in individuals agedtowhich is also the ideal target range for a screening test for ASDThe development of a laboratory biomarker test based on these patented methods will potentially serve as a second tier objective test following initial behavioral observations have identified a child at risk of developing ASDthereby providing for confirmation of the diagnosis and earlier treatmentPotentiallysuch a test will alsolead to a better understanding of the pathogenic mechanisms underlying this conditionassist in the identification of biochemical signatures delineating ASD sub groupsandhighlight novel targets for improved and individualized treatment approachesWidespread use of the existing test methodshoweveris currently limited either by the cost and time associated with generating immortalized cell lines for each sample or by the size of the fresh blood sample that can be acquired from childrenwhich is necessary to obtain sufficient numbers of live cells for the metabolic profiling assayThereforethe objective of the proposed effort is to develop methods and technologies to perform metabolic profiling on immune cells from small volumes of fresh blood to enable a viable screening test for ASDEfforts will first be focused on improving the sensitivity of the current live cell metabolic profiling techniquesMiniaturization of the assay platform will then be implemented to reduce the number of cells needed for each test conditionthereby limiting the necessary blood sample volumeBlood samples from a minimum ofsubjects diagnosed with ASD andTD controls will undergo metabolic profiling in a blinded fashion according to the methods and protocols developedThe performance of multiple classifiers will then be evaluated to determine the ability of the techniques to identify individuals diagnosed with ASDThe successful completion of this effort will lead directly to the Phaseinvestigationwhich will involve testing an expanded cohortincluding other neurodevelopmental disordersand finalizing the design of a commercially viable testing serviceplatformor kitCommercialization of the technology proposed will ultimately provide for a screening test to identify toddlers at increased risk for ASDthereby providing for earlier diagnosis and improved behavioral outcomes As many asinchildren in the United States is diagnosed with autism spectrum disorderASDa neurodevelopmental disorder for which the cause is still unknown and there is no curebut for which early intervention and treatment can have a positive effectEfforts are underway to develop objective measures of the likelihood of a child as young asmonths old to develop ASD and to potentially determine a subgroup within ASD into which the child may be classified in order to assist in developing a treatment planBased upon observations by our group of differences in the energy production in immune cells of individuals with ASDthe development of a laboratory based screening test to identify children at increased risk for ASD is proposedwhich will potentially provide for earlier diagnosis confirmationmore informed treatmentand improved behavioral outcomes

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

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