Improving Autism Screening With Brain-Related miRNA

NCT02712853 | Completed DMC

• 1 other identifier: Study00003658
• Study Type: observational
• Target: 304
• Locations: 1 country
• Sites: 1

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.

Conditions

Autism Spectrum Disorder; Developmental Delay

Outcome Measures

Primary Outcomes (1)

• salivary miRNA profile

  Measures of miRNA abundance in saliva

  at time of collection (between 18 months and 6 years of age)

Secondary Outcomes (2)

• Measures of adaptive function

  at time of enrollment (between 18 months and 6 years)

• Measure of autistic behavior

  at time of enrollment (between 18 months and 6 years)

Study Arms (2)

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; 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; Other: Vineland Adaptive Behavior Scale-II Assessment

Interventions

Saliva collection OTHER

Collection of saliva via swab for miRNA processing

Autism Spectrum Disorder (ASD); Control

Vineland Adaptive Behavior Scale-II Assessment OTHER

Autism Spectrum Disorder (ASD); Control

Eligibility Criteria

• Age: 18 Months - 6 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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

You may qualify if:

• 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)

You may not qualify if:

• Autistic subjects with known syndromic autism (attributed to a known genetic mutation)
• A diagnosis of autism
• For both groups: wards of the state, active periodontal infection, active upper respiratory infection

Sponsors & Collaborators

• Milton S. Hershey Medical Center: lead

Study Sites (1)

Penn State Milton S. Hershey Medical Center

Hershey, Pennsylvania, 17033, United States

Location

Related Publications (3)

• Mundalil Vasu M, Anitha A, Thanseem I, Suzuki K, Yamada K, Takahashi T, Wakuda T, Iwata K, Tsujii M, Sugiyama T, Mori N. Serum microRNA profiles in children with autism. Mol Autism. 2014 Jul 30;5:40. doi: 10.1186/2040-2392-5-40. eCollection 2014.

  PMID: 25126405 BACKGROUND

• Sarachana T, Zhou R, Chen G, Manji HK, Hu VW. Investigation of post-transcriptional gene regulatory networks associated with autism spectrum disorders by microRNA expression profiling of lymphoblastoid cell lines. Genome Med. 2010 Apr 7;2(4):23. doi: 10.1186/gm144.

  PMID: 20374639 BACKGROUND

• Abu-Elneel K, Liu T, Gazzaniga FS, Nishimura Y, Wall DP, Geschwind DH, Lao K, Kosik KS. Heterogeneous dysregulation of microRNAs across the autism spectrum. Neurogenetics. 2008 Jul;9(3):153-61. doi: 10.1007/s10048-008-0133-5. Epub 2008 Jun 19.

  PMID: 18563458 BACKGROUND

Biospecimen

Retention: SAMPLES WITHOUT DNA

Salivary RNA

MeSH Terms

Conditions

Autism Spectrum Disorder; Learning Disabilities

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders; Communication Disorders; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Steven Hicks, MD, PhD

  Milton S. Hershey Medical Center

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor of Pediatrics

Study Record Dates

• First Submitted: February 8, 2016
• First Posted: March 18, 2016
• Study Start: November 1, 2015
• Primary Completion: August 1, 2018
• Study Completion: August 1, 2018
• Last Updated: August 22, 2018

Record last verified: 2018-08

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)