A Salivary miRNA Diagnostic Test for Autism

State University of New York - Upstate Medical University998 enrolled

Overview

The goal of this study is to validate a panel of miRNAs that distinguish children with autism spectrum disorder (ASD) from their non-ASD peers with a positive MCHAT-R. These biomarkers may allow earlier diagnosis of autism, allowing earlier service, and also help us to understand some of the changes in the brains of autistic children.

The central aim of this project is to validate a panel of expressed microRNA (miRNA) in the saliva of children identified at risk for developing ASD by the MCHAT-R. Further, this study aims to assess the value of the current panel as an adjunctive test that may increase specificity of MCHAT-R positive results, or affirm clinical diagnoses alongside the ADOS or other objective assessments. The primary endpoints of this study are as follows: 1. Evaluate the diagnostic ability (sensitivity and specificity) of the current a salivary microtranscriptome panel for distinguishing children with ASD from their non-ASD peers. 2. Assess stability of the salivary microtranscriptome diagnosis over time, and interrogate longitudinal microtranscriptome levels relative to neuropsychological measures. Secondary endpoints are the identification of microtranscriptome features whose concentrations correlate with ASD endophenotypes.

Study Type

OBSERVATIONAL

Enrollment

998

Conditions

Autism Spectrum Disorder Developmental Delay

Interventions

Salivary collectionOTHER

Collection of saliva via swab for miRNA processing

Vineland Adaptive Behavior Scale-III AssessmentOTHER

Medical history questionaireOTHER

Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)

Eligibility

Sex: ALLMin age: 24 MonthsMax age: 48 MonthsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * Age at enrollment: 24 months to 48 months (inclusive) * MCHAT-R score of 3 or greater * Parent/guardian must be fluent in spoken English (required to complete study specific questionnaires etc) Exclusion Criteria: * confounding neurological (i.e. cerebral palsy, epilepsy), sensory (i.e. auditory or visual) impairments, and feeding tube dependence. * history of extreme pre-term birth (\< 32 weeks gestation) * wards of the state * Autistic subjects with known syndromic autism (attributed to a known genetic mutation)

Locations (1)

SUNY Upstate Medical University

Syracuse, New York, United States

Outcomes

Primary Outcomes

Salivary miRNA profile

Measures of miRNA abundance in saliva

Time frame: at the time of collect (from 18m to 6 years of age)

Secondary Outcomes

Measures of adaptive function

Vineland Adaptive Behavior Composite Score

Time frame: At time of enrollment (from 18m to 6 years of age)

Measures of early intellectual development

Mullen Scales of Early Learning

Time frame: At time of enrollment (from 18m to 6 years of age)

Measure of autistic behavior

Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only)

Time frame: At time of enrollment (from 18m to 6 years of age)

Data from ClinicalTrials.gov

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