A Metabolism Based Test to Diagnose Autism Spectrum Disorder and its Subtypes in Early Childhood

DESCRIPTION provided by applicant Autism spectrum disorder ASD is now diagnosed in of children with recent reports citing as many as in children in the United States The average age of diagnosis is more than years There is a need for a reliable biomarker based test for earlier diagnosis of ASD in young children to improve outcomes such as cognition social function and communication This will subsequently decrease the financial and emotional burden on families and society In Stemina began a self funded Phase I equivalent study of plasma samples from nearly ASD Developmental Delay DD and Typically Developing TD children From these studies we developed computational models based on metabolic biomarker differences in ASD and TD children that could differentiate ASD from TD patients with an accuracy of about Stemina seeks funding to enroll patients in a well defined clinical study to develop a biomarker based diagnostic test capable of classifying ASD relative to other developmental delays at greater than accuracy In addition we propose to identify metabolic subtypes present within the ASD spectrum that can be used for personalized treatment The study will include ASD DD and TD children between and months of age Inclusion of DD patients is a novel and important aspect of this proposed study from the perspective of a commercially available diagnostic test Our ultimate goals are to enable early diagnosis and treatment elucidate metabolic differences in subtypes of ASD patients to properly match the best available treatments for each patient from an individual biochemical perspective and identify biochemical alterations in patients across the spectrum that will provide targets for novel therapies We will employ the innovative metabolomics approaches that we developed in Phase I including coupling orthogonal chromatographic separation methodologies with both non targeted and targeted high resolution mass spectrometry Our study objectives will be to confirm biomarkers that were discovered in Phase I expand those biomarker profiles for metabolic subtypes and optimize the ASD test accuracy by creating panels of biomarker subtypes that will better describe this heterogeneous syndrome Based on our Phase I data we believe this clinical study will also allow us to confirm specific metabolic biomarkers of subtypes of ASD This innovative approach to characterizing ASD will allow physicians to suggest the most appropriate treatment based on the individual metabolism of the patient PUBLIC HEALTH RELEVANCE Stemina is developing metabolic biomarker based blood and urine diagnostic tests for autism in children between and months of age So far the tests are about accurate but need to be developed further We are asking for funding to enroll autistic developmentally delayed and typical children in a clinical study to continue our work Our ultimate goals are to enable early diagnosis and treatment find metabolic differences in of ASD patients to properly match the best available treatments for each patient and identify biochemical alterations in patients across the spectrum that will provide targets for new treatments