We are updating the design of this site. Learn more.
Show more
ClinicalTrials.gov
ClinicalTrials.gov Menu

A Salivary miRNA Diagnostic Test for Autism

This study is currently recruiting participants.
Verified July 2016 by Frank Middleton, PhD, State University of New York - Upstate Medical University
Sponsor:
ClinicalTrials.gov Identifier:
NCT02832557
First Posted: July 14, 2016
Last Update Posted: July 19, 2016
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
National Institute of Mental Health (NIMH)
Information provided by (Responsible Party):
Frank Middleton, PhD, State University of New York - Upstate Medical University
  Purpose
The goal of this study is to identify miRNAs that are at increased or decreased levels in the saliva of children with autism spectrum disorder (ASD) or developmental delay and would be useful biomarkers for the screening of toddlers and young children for ASD. 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.

Condition Intervention
Autism Spectrum Disorder Developmental Delay Other: Salivary collection Other: Vineland Adaptive Behavior Scale-II Assessment Other: Medical history questionaire Other: Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Cross-Sectional
Official Title: Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder

Resource links provided by NLM:


Further study details as provided by Frank Middleton, PhD, State University of New York - Upstate Medical University:

Primary Outcome Measures:
  • Salivary miRNA profile [ Time Frame: at the time of collect (from 2 to 6 years of age) ]
    Measures of miRNA abundance in saliva


Secondary Outcome Measures:
  • Measures of adaptive function [ Time Frame: At time of enrollment (from 2 to 6 years of age) ]
    Vineland Adaptive Behavior Composite Score

  • Measure of autistic behavior [ Time Frame: At time of enrollment (from 2 to 6 years of age) ]
    Autism Diagnostic Observation Schedule (ADOS) Composite Score (Autism Group Only)


Biospecimen Retention:   Samples Without DNA
Salivary RNA

Estimated Enrollment: 300
Study Start Date: November 2015
Estimated Study Completion Date: June 2017
Estimated Primary Completion Date: December 2016 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Autism Spectrum Disorder (ASD)
Children with autism spectrum disorder (ASD), diagnosed using DSM-5 criteria and confirmed with ADOS or another semi-structured evaluation measure. ASD should not be attributable to an underlying genetic abnormality, and participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.
Other: Salivary collection
Collection of saliva via swab for miRNA processing
Other: Vineland Adaptive Behavior Scale-II Assessment Other: Medical history questionaire Other: Autism Diagnostic Observation Schedule -2nd edition (ADOS-2)
Controls
Children from 2 to 6 years of age with normal developmental milestones.
Other: Salivary collection
Collection of saliva via swab for miRNA processing
Other: Vineland Adaptive Behavior Scale-II Assessment Other: Medical history questionaire

Detailed Description:

The central aim of this project is to characterize the expression of microRNA (miRNA) in the saliva of children with autism spectrum disorder (ASD). In 2012 the CDC reported that the prevalence of ASD in U.S. children was 1 in 88. Yet, the biological causes, diagnosis, and treatment of this disease remain ambiguous. Recent research suggests that certain factors that regulate gene expression may play a role in ASD. To investigate this possibility we plan to measure small molecules called miRNAs in the saliva of children with ASD. Studies on miRNAs have shown that they can be extruded from neurons as extracellular signaling molecules and this knowledge provides a new approach for examining the genetic regulation of the central nervous system.

In this study we are measuring the expression of extracellular miRNA in children with ASD. Levels of miRNA from saliva will be compared to those of normally developing controls. The goal of this research will be to provide possible biomarkers for diagnostic screening of ASD and identify genetic regulatory mechanisms involved in ASD.

The primary endpoints of this study are as follows:

  1. Characterization of miRNA in the saliva of children with ASD and normally developing control children from two to six years of age.
  2. Identification of miRNAs in saliva that are predictive of ASD diagnosis and severity of symptoms.

Secondary endpoints are the identification of miRNA expression patterns that correlate with ASD symptom severity measured with standardized neuropsychologic testing.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   2 Years to 6 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

The study will compare salivary miRNA in 2 groups of children between the ages of 2 years, 0 months and 6 years, 11 months of age:

Group 1: Children with autism spectrum disorder (ASD), diagnosed using DSM-5 criteria and confirmed with ADOS-2, or another semi-structured evaluation measure. ASD should not be attributable to an underlying genetic cause, and participants should not have a history of extreme pre-term birth or underlying neurological disorders such as seizures or cerebral palsy.

Group 2: Healthy controls, meeting developmental milestones, with negative MCHAT-R screening and no family history of autism in first degree relatives

Criteria

Inclusion Criteria:

  • Age at enrollment: 2 and 6 years (inclusive)
  • Control group: normal developmental milestones and documented negative ASD screening on M-CHAT-R
  • ASD group: established DSM-5 diagnosis or equivalent, and capable of understanding and/or responding to simple verbal instruction
  • Parent/guardian must be fluent in spoken English (required to complete study specific questionnaires etc)

Exclusion Criteria:

For both control and autistic subjects study exclusion criteria will include:

  • confounding neurological (i.e. cerebral palsy, epilepsy) and sensory (i.e. auditory or visual) impairments.
  • 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)

Control subjects only exclusion criteria will include:

  • A diagnosis of autism or developmental delay
  • Family history of ASD in first degree relatives
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02832557


Contacts
Contact: Frank Middleton, PhD 315-464-7729 middletf@upstate.edu

Locations
United States, New York
SUNY Upstate Medical University Recruiting
Syracuse, New York, United States, 13210
Contact: Frank A Middleton, PhD    315-464-7729    middletf@upstate.edu   
Principal Investigator: Frank Middleton A Middleton, PhD         
Sponsors and Collaborators
State University of New York - Upstate Medical University
National Institute of Mental Health (NIMH)
  More Information

Publications:
Responsible Party: Frank Middleton, PhD, Principle Investigator, State University of New York - Upstate Medical University
ClinicalTrials.gov Identifier: NCT02832557     History of Changes
Other Study ID Numbers: 346301
R41MH111347 ( U.S. NIH Grant/Contract )
First Submitted: July 12, 2016
First Posted: July 14, 2016
Last Update Posted: July 19, 2016
Last Verified: July 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Keywords provided by Frank Middleton, PhD, State University of New York - Upstate Medical University:
Autism
Asperger's Syndrome
microRNA
epigenetic
biomarker

Additional relevant MeSH terms:
Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders