A Salivary miRNA Diagnostic Test for Autism

NCT ID: NCT02832557

Last Updated: 2023-06-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

998 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-11-01

Study Completion Date

2021-08-31

Brief Summary

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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

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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.

Conditions

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Autism Spectrum Disorder Developmental Delay

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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MCHAT-R Positive

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.

Salivary collection

Intervention Type OTHER

Collection of saliva via swab for miRNA processing

Vineland Adaptive Behavior Scale-III Assessment

Intervention Type OTHER

Medical history questionaire

Intervention Type OTHER

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

Intervention Type OTHER

Mullen Scales of Early Learning

Intervention Type OTHER

Interventions

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Salivary collection

Collection of saliva via swab for miRNA processing

Intervention Type OTHER

Vineland Adaptive Behavior Scale-III Assessment

Intervention Type OTHER

Medical history questionaire

Intervention Type OTHER

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

Intervention Type OTHER

Mullen Scales of Early Learning

Intervention Type OTHER

Eligibility Criteria

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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)
Minimum Eligible Age

24 Months

Maximum Eligible Age

48 Months

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Institute of Mental Health (NIMH)

NIH

Sponsor Role collaborator

Quadrant Biosciences Inc.

INDUSTRY

Sponsor Role collaborator

Milton S. Hershey Medical Center

OTHER

Sponsor Role collaborator

University of Missouri-Columbia

OTHER

Sponsor Role collaborator

Children's Hospital Medical Center, Cincinnati

OTHER

Sponsor Role collaborator

Baylor College of Medicine

OTHER

Sponsor Role collaborator

State University of New York - Upstate Medical University

OTHER

Sponsor Role lead

Responsible Party

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Frank A Middleton

Principal Investigator/Associate Professor

Responsibility Role PRINCIPAL_INVESTIGATOR

Locations

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SUNY Upstate Medical University

Syracuse, New York, United States

Site Status

Countries

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United States

References

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Hicks SD, Ignacio C, Gentile K, Middleton FA. Salivary miRNA profiles identify children with autism spectrum disorder, correlate with adaptive behavior, and implicate ASD candidate genes involved in neurodevelopment. BMC Pediatr. 2016 Apr 22;16:52. doi: 10.1186/s12887-016-0586-x.

Reference Type BACKGROUND
PMID: 27105825 (View on PubMed)

Hicks SD, Rajan AT, Wagner KE, Barns S, Carpenter RL, Middleton FA. Validation of a Salivary RNA Test for Childhood Autism Spectrum Disorder. Front Genet. 2018 Nov 9;9:534. doi: 10.3389/fgene.2018.00534. eCollection 2018.

Reference Type BACKGROUND
PMID: 30473705 (View on PubMed)

Hicks SD, Carpenter RL, Wagner KE, Pauley R, Barros M, Tierney-Aves C, Barns S, Greene CD, Middleton FA. Saliva MicroRNA Differentiates Children With Autism From Peers With Typical and Atypical Development. J Am Acad Child Adolesc Psychiatry. 2020 Feb;59(2):296-308. doi: 10.1016/j.jaac.2019.03.017. Epub 2019 Mar 27.

Reference Type DERIVED
PMID: 30926572 (View on PubMed)

Other Identifiers

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R41MH111347

Identifier Type: NIH

Identifier Source: secondary_id

View Link

R42MH111347

Identifier Type: NIH

Identifier Source: secondary_id

View Link

346301

Identifier Type: -

Identifier Source: org_study_id

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