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Improving Autism Screening With Brain-Related miRNA

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ClinicalTrials.gov Identifier: NCT02712853
Recruitment Status : Completed
First Posted : March 18, 2016
Last Update Posted : August 22, 2018
Sponsor:
Information provided by (Responsible Party):
Steven Hicks, Milton S. Hershey Medical Center

Brief Summary:
The goal of this project is to identify specific miRNAs that are increased or decreased in the saliva of children with developmental delay and are useful for screening toddlers for ASD. Such a screening tool would improve the specificity of diagnosis, streamline referrals to developmental specialists, and expedite the arrangement of early intervention services.

Condition or disease Intervention/treatment
Autism Spectrum Disorder Developmental Delay Other: Saliva collection Other: Vineland Adaptive Behavior Scale-II Assessment

Detailed Description:

The central aim of this project is to characterize the expression of exosomal microRNA (miRNA) in children with autism spectrum disorder (ASD). Currently, the CDC estimates the prevalence of ASD in U.S. children to be 1 in 68. Yet, the biological causes, diagnosis, and treatment of this disease remain ambiguous. Growing evidence implicates a genetic role in ASD. miRNAs regulate genetic expression and are altered in lymphocytes, neurons and serum of patients with ASD. Recent studies of miRNAs have shown that they can be packaged into exosomal vessels and extruded from neurons as extracellular signaling tools. This knowledge provides a novel approach for examining the genetic regulation of the central nervous system.

We propose to measure the expression of extracellular miRNA in children with ASD. Expression levels of miRNA from blood and saliva will be compared between children with autism and normally developing controls. The goal of this study will be to identify genetic regulatory mechanisms involved in ASD and provide potential biomarkers for diagnostic screening.

The primary endpoints of this study are as follows:

  1. Characterization of brain-related miRNA in the saliva of children with ASD and typically developing control children between the ages of two and five years.
  2. Identification of sets of miRNAs in saliva and plasma that are predictive of both ASD diagnosis and severity of ASD symptoms. This aim will enroll ASD and control children age 12-24 months (inclusive).

Secondary endpoints include the identification of miRNA expression patterns that correlate with ASD symptom severity measured with standardized neuropsychologic testing and to characterize parental knowledge and attitudes towards epigenetic testing in the context of ASD..

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Study Type : Observational
Actual Enrollment : 304 participants
Observational Model: Case-Control
Time Perspective: Cross-Sectional
Official Title: Improving Autism Screening With Brain-Related miRNA
Actual Study Start Date : November 2015
Actual Primary Completion Date : August 2018
Actual Study Completion Date : August 2018

Resource links provided by the National Library of Medicine


Group/Cohort Intervention/treatment
Autism Spectrum Disorder (ASD)

Age at enrollment: 18 months to 6 years with established DSM-5 diagnosis of autism spectrum disorder. Exclusion criteria include:

wards of the state syndromic autism (attributed to a known genetic mutation) active periodontal infection active upper respiratory infection

Other: Saliva collection
Collection of saliva via swab for miRNA processing

Other: Vineland Adaptive Behavior Scale-II Assessment
Control

Age 18 months to 6 years without autism spectrum disorder (may have typical development or developmental delay without autism - as defined by negative MCHAT-R or negative ADOS-II evaluation)

Exclusion criteria include:

wards of the state active periodontal infection active upper respiratory infection

Other: Saliva collection
Collection of saliva via swab for miRNA processing

Other: Vineland Adaptive Behavior Scale-II Assessment



Primary Outcome Measures :
  1. salivary miRNA profile [ Time Frame: at time of collection (between 18 months and 6 years of age) ]
    Measures of miRNA abundance in saliva


Secondary Outcome Measures :
  1. Measures of adaptive function [ Time Frame: at time of enrollment (between 18 months and 6 years) ]
    Vineland adaptive behavior composite score

  2. Measure of autistic behavior [ Time Frame: at time of enrollment (between 18 months and 6 years) ]
    Autism Diagnostic Observation Schedule (ADOS) Composite Score (when clinically indicated)


Biospecimen Retention:   Samples Without DNA
Salivary RNA


Information from the National Library of Medicine

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Ages Eligible for Study:   18 Months 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 18 months and 6 years, 11 months of age:

Group 1: Children with autism spectrum disorder (ASD), diagnosed by a qualified clinical specialist using DSM-5 criteria and confirmed with ADOS, CASD, or some additional semi-structured evaluation measure. ASD will not be attributable to an underlying genetic phenotype.

Group 2: Healthy controls with negative MCHAT-R screening not meeting DSM-5 criteria for ASD

Criteria

Inclusion Criteria:

  • • Age at enrollment: 18 months and 6 years (inclusive)

    • Control group documented negative ASD screening on M-CHAT-R
    • ASD group: established DSM-5 diagnosis
    • Parent/guardian must be fluent in written and spoken English (required to complete study specific questionnaires etc)

Exclusion Criteria:

For autistic subjects study exclusion criteria will include:

• Autistic subjects with known syndromic autism (attributed to a known genetic mutation)

Control subjects only exclusion criteria will include:

• A diagnosis of autism

For both groups: wards of the state, active periodontal infection, active upper respiratory infection


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): NCT02712853


Locations
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United States, Pennsylvania
Penn State Milton S. Hershey Medical Center
Hershey, Pennsylvania, United States, 17033
Sponsors and Collaborators
Milton S. Hershey Medical Center
Investigators
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Principal Investigator: Steven Hicks, MD, PhD Milton S. Hershey Medical Center
Publications:
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Responsible Party: Steven Hicks, Assistant Professor of Pediatrics, Milton S. Hershey Medical Center
ClinicalTrials.gov Identifier: NCT02712853    
Other Study ID Numbers: Study00003658
First Posted: March 18, 2016    Key Record Dates
Last Update Posted: August 22, 2018
Last Verified: August 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No
Plan Description: IPD will not be made available
Additional relevant MeSH terms:
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Autistic Disorder
Autism Spectrum Disorder
Child Development Disorders, Pervasive
Neurodevelopmental Disorders
Mental Disorders