A Salivary miRNA Diagnostic Test for Autism

Completed

• Conditions: Autism Spectrum Disorder; Developmental Delay
• Interventions: Other: Salivary collection; Other: Vineland Adaptive Behavior Scale-III Assessment; Other: Medical history questionaire; Other: Autism Diagnostic Observation Schedule -2nd edition (ADOS-2); Other: Mullen Scales of Early Learning

• Registration Number: NCT02832557
• Lead Sponsor: State University of New York - Upstate Medical University

Brief Summary

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.

Detailed Description

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 Timeline

• Study Start: 2015-11-01
• Study First Submitted: 2016-07-12
• Study First Submitted QC: 2016-07-12
• Study First Posted: 2016-07-14
• Primary Completion: 2021-08-31
• Study Completion: 2021-08-31
• Status Verified: 2023-06
• Last Update Submitted: 2023-06-02
• Last Update Posted: 2023-06-05

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 998

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)

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
MCHAT-R Positive	Vineland Adaptive Behavior Scale-III Assessment	Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.
MCHAT-R Positive	Salivary collection	Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.
MCHAT-R Positive	Medical history questionaire	Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.
MCHAT-R Positive	Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)	Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.
MCHAT-R Positive	Mullen Scales of Early Learning	Children identified at risk for the development of autism spectrum disorder (ASD) by scoring a 3 or higher on the MCHAT-R. Participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.

Primary Outcome Measures

Name	Time	Method
Salivary miRNA profile	at the time of collect (from 18m to 6 years of age)	Measures of miRNA abundance in saliva

Secondary Outcome Measures

Name	Time	Method
Measure of autistic behavior	At time of enrollment (from 18m to 6 years of age)	Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only)
Measures of early intellectual development	At time of enrollment (from 18m to 6 years of age)	Mullen Scales of Early Learning
Measures of adaptive function	At time of enrollment (from 18m to 6 years of age)	Vineland Adaptive Behavior Composite Score

Trial Locations

Locations (1)

SUNY Upstate Medical University; 🇺🇸 Syracuse, New York, United States