A Salivary miRNA Diagnostic Test for Autism

Autism Spectrum Disorder Clinical Trial

Official title:

Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02832557
• Other study ID #: 346301
• Secondary ID: R41MH111347R42MH
• Status: Completed
• Start date: November 1, 2015
• Est. completion date: August 31, 2021

Study information

• Verified date: June 2023
• Source: State University of New York - Upstate Medical University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 998
• Est. completion date: August 31, 2021
• Est. primary completion date: August 31, 2021
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 24 Months to 48 Months

Eligibility

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)

Related Conditions & MeSH terms

• Autism Spectrum Disorder
• Autistic Disorder
• Developmental Delay

Intervention

Other:
• Salivary collection
Collection of saliva via swab for miRNA processing
• Vineland Adaptive Behavior Scale-III Assessment

• Medical history questionaire

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

• Mullen Scales of Early Learning

Locations

Country	Name	City	State
United States	SUNY Upstate Medical University	Syracuse	New York

Sponsors (7)

Lead Sponsor	Collaborator
State University of New York - Upstate Medical University	Baylor College of Medicine, Children's Hospital Medical Center, Cincinnati, Milton S. Hershey Medical Center, National Institute of Mental Health (NIMH), Quadrant Biosciences Inc., University of Missouri-Columbia

Country where clinical trial is conducted

United States, 

References & Publications (2)

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. — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Salivary miRNA profile	Measures of miRNA abundance in saliva	at the time of collect (from 18m to 6 years of age)
Secondary	Measures of adaptive function	Vineland Adaptive Behavior Composite Score	At time of enrollment (from 18m to 6 years of age)
Secondary	Measures of early intellectual development	Mullen Scales of Early Learning	At time of enrollment (from 18m to 6 years of age)
Secondary	Measure of autistic behavior	Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only)	At time of enrollment (from 18m to 6 years of age)