Clinical trial NCT02832557: A Salivary miRNA Diagnostic Test for Autism
Official title: Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Autism Spectrum Disorder
Developmental Delay
Keywords: Autism
Asperger's Syndrome
microRNA
epigenetic
biomarker
Lead sponsor: State University of New York - Upstate Medical University
Sponsor class: OTHER
Collaborators: name: National Institute of Mental Health (NIMH)
name: Quadrant Biosciences Inc.
name: Milton S. Hershey Medical Center
name: University of Missouri-Columbia
name: Children's Hospital Medical Center, Cincinnati
name: Baylor College of Medicine
First posted: 2016-07-14
Enrollment: 998
Sex: ALL
Minimum age (years): 24
Maximum age (years): 48
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The study will compare salivary miRNA in children between the ages of 24 months and 48 months of age who are considered at risk for the development of autism spectrum disorder as identified by a score of 3 or greater on the MCHAT-R.

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.

Eligibility criteria: 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)

Primary outcomes:
measure: Salivary miRNA profile
timeFrame: at the time of collect (from 18m to 6 years of age)
Secondary outcomes:
measure: Measures of adaptive function
timeFrame: At time of enrollment (from 18m to 6 years of age)
measure: Measures of early intellectual development
timeFrame: At time of enrollment (from 18m to 6 years of age)
measure: Measure of autistic behavior
timeFrame: At time of enrollment (from 18m to 6 years of age)
Other outcomes:
Locations:
city: Syracuse
country: United States
facility: SUNY Upstate Medical University
state: New York
Study officials:
References:
citation: 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.
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.
citation: 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.