Validation of a Salivary miRNA Diagnostic Test for ASD

Validation of a Salivary miRNA Diagnostic Test for Autism Spectrum Disorder

This study involves sample collection to identify biomarkers relating to Autism Spectrum Disorder(ASD) in the saliva of children who are between the ages of 18 months to 6 years and 11 months. Participants will at each timepoint have a non-invasive saliva swab collected and complete a brief demographic and medical history questionnaire as well. Children in the pediatric/provider setting who will receive a referral for an ASD diagnosis because they were determined to have a suspicion of developing ASD will be enrolled in the study. Children will also be enrolled in the specialist evaluation setting where they will receive a DSM-5 diagnosis. A subset of both enrollment cohorts will also be followed up with at a third time point in which their diagnosis will be confirmed, and information about any ongoing treatment will be gathered.

Study Overview

• Status: Recruiting
• Conditions: Autism Spectrum Disorder; Developmental Delay
• Intervention / Treatment: Other: Salivary Collection; Other: Adaptive Assessment; Other: Medical and Demographic questionnaire; Other: Autism Assessment; Other: Intellectual Development Assessment

• Study Type: Observational
• Enrollment (Anticipated): 6604

Contacts and Locations

• Study Contact: Name: Andrew Brindle; Phone Number: 3153260760; Email: abrindle@quadrantbiosciences.com
• Study Contact Backup: Name: Arianna Montefusco; Phone Number: 3153260760; Email: arianna.montefusco@quadrantbiosciences.com

Study Locations

• United States
  • California
    • Santa Ana, California, United States, 92705
      • Recruiting
      • University of California - Irvine
      • Contact: Jean Gehricke, PhD
  • Georgia
    • Atlanta, Georgia, United States, 30319
      • Recruiting
      • Marcus Autism Center/Emory University
      • Contact: Cheryl Klaiman, PhD
  • Illinois
    • Chicago, Illinois, United States, 60612
      • Not yet recruiting
      • Rush University
      • Contact: Latha Soorya, PhD
  • Massachusetts
    • Worcester, Massachusetts, United States, 01655
      • Recruiting
      • University of Massachusetts Medical School
      • Contact: Jean Frazier, MD
  • New York
    • Rochester, New York, United States, 14642
      • Recruiting
      • University of Rochester
      • Contact: Lynn Cole, MS
    • Syracuse, New York, United States, 13210
      • Not yet recruiting
      • SUNY Upstate Medical University
      • Contact: Henry Roane, PhD
    • Syracuse, New York, United States, 13210
      • Active, not recruiting
      • Quadrant Biosciences
  • Ohio
    • Cincinnati, Ohio, United States, 45229
      • Recruiting
      • Cincinnati Children's Hospital Medical Center
      • Contact: Rebecca Shaffer, PsyD
    • Parma, Ohio, United States, 44130
      • Recruiting
      • MetroHealth Medical Center
      • Contact: Melissa Armstrong-Brine, PhD
    • Westerville, Ohio, United States, 43081
      • Recruiting
      • Nationwide Children's Hospital
      • Contact: Eric Butter, PhD
  • Pennsylvania
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Children's Hospital of Philadelphia
      • Contact: Amanda Bennett, MD
    • Philadelphia, Pennsylvania, United States, 19104
      • Recruiting
      • Drexel University
      • Contact: Diana Robins, PhD
  • South Carolina
    • Greenville, South Carolina, United States, 29615
      • Recruiting
      • Prisma Health-Upstate
      • Contact: Karen Ratliff-Schaub, MD
  • Texas
    • Houston, Texas, United States, 77054
      • Recruiting
      • Texas Children's Hospital/Baylor College of Medicine
      • Contact: Robin Kochel, PhD
  • Virginia
    • Charlottesville, Virginia, United States, 22903
      • Recruiting
      • University of Virginia
      • Contact: Richard Stevenson, MD
  • Washington
    • Seattle, Washington, United States, 98105
      • Recruiting
      • Seattle Children's Hospital
      • Contact: Karen Bearss, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 1 year to 7 years (CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Participants will be enrolled at pediatric offices, as well as specialist evaluation centers who are deemed at-risk for Autism Spectrum Disorder.

Description

Inclusion Criteria:

• 18 through 83 months old

• The study will include children "at risk" for ASD as defined by meeting one or more of the following criteria:

  • flagged positive on a developmental screening tool (see below for assessment cut off scores)
  • the child has a biological sibling with ASD
  • Significant provider concern based on parent report noted in the child's medical chart at the time of the appointment.
  • Significant parental concern

Exclusion Criteria:

• Feeding tube dependence
• Active periodontal disease
• Confounding neurological condition (i.e. cerebral palsy, epilepsy)
• Sensory impairments (i.e. blindness or deafness)
• Acute illnesses (i.e. upper respiratory infection)
• Currently on antibiotics
• Had taken antibiotics within the previous 30 days
• Wards of the state

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Autism Spectrum Disorder (ASD)	Other: Salivary Collection; Collection of saliva via swab for miRNA processing; Other: Adaptive Assessment; Includes Vineland Adaptive Behavior Scale or equivalent; Other: Medical and Demographic questionnaire; Survey that collects basic medical and demographic information; Other: Autism Assessment; Includes Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), Gilliam Autism Rating Scale (GARS), Autism Diagnostic Interview - Revised (ADIR) or an equivalent; Other: Intellectual Development Assessment; Includes Mullens Scales of Early Learning, Stanford Binet Intelligence Scales, Wechsler Preschool and Primary Scale of Intelligence (WPPSI), Bayley Scales of Infant Development or an equivalent
Non-ASD	Other: Salivary Collection; Collection of saliva via swab for miRNA processing; Other: Adaptive Assessment; Includes Vineland Adaptive Behavior Scale or equivalent; Other: Medical and Demographic questionnaire; Survey that collects basic medical and demographic information; Other: Autism Assessment; Includes Autism Diagnostic Observation Schedule (ADOS), Childhood Autism Rating Scale (CARS), Gilliam Autism Rating Scale (GARS), Autism Diagnostic Interview - Revised (ADIR) or an equivalent; Other: Intellectual Development Assessment; Includes Mullens Scales of Early Learning, Stanford Binet Intelligence Scales, Wechsler Preschool and Primary Scale of Intelligence (WPPSI), Bayley Scales of Infant Development or an equivalent

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Salivary miRNA Profile	Measures of miRNA abundance in saliva	At the time of collection (from 18 months to 6 years 11 months of age)
DSM-5 Diagnosis	Confirmation of participants meeting or not meeting the DSM-5 Criteria for a diagnosis of Autism Spectrum Disorder	At the time of the diagnostic evaluation

Collaborators and Investigators

• Sponsor: Quadrant Biosciences Inc.
• Collaborators: Children's Hospital of Philadelphia; University of Pittsburgh; Emory University; Seattle Children's Hospital; State University of New York - Upstate Medical University; Nationwide Children's Hospital; University of California, Irvine; Children's Hospital Medical Center, Cincinnati; University of Virginia; University of Rochester; University of Massachusetts, Worcester; Children's Hospital Los Angeles; Holland Bloorview Kids Rehabilitation Hospital; Rush University; Drexel University; Prisma Health-Upstate; MetroHealth Medical Center
• Investigators: Principal Investigator: David Levitskiy, MS, Quadrant Biosciences

Publications and helpful links

General Publications

• 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.
• 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.
• 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.

Study record dates

Study Major Dates

• Study Start (ACTUAL): March 16, 2022
• Primary Completion (ANTICIPATED): July 1, 2023
• Study Completion (ANTICIPATED): July 1, 2023

Study Registration Dates

• First Submitted: January 6, 2022
• First Submitted That Met QC Criteria: June 10, 2022
• First Posted (ACTUAL): June 14, 2022

Study Record Updates

• Last Update Posted (ACTUAL): February 8, 2023
• Last Update Submitted That Met QC Criteria: February 6, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Keywords: ASD; Biomarkers; Autism Spectrum Disorder; Saliva
• Additional Relevant MeSH Terms: Mental Disorders; Neurodevelopmental Disorders; Autistic Disorder; Autism Spectrum Disorder; Child Development Disorders, Pervasive
• Other Study ID Numbers: 20214744

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No