Autism Spectrum DisorderNCT02712853
Improving Autism Screening With Brain-Related miRNA
An observational study of Autism Spectrum Disorder and Developmental Delay, run by Milton S. Hershey Medical Center at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 months to 6 yearsHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder, Developmental Delay
- What is being tested?
- Saliva collection and Vineland Adaptive Behavior Scale-II Assessment
- How many people
- 304 participants
- Where
- 1 siteUnited States
- Study dates
- Nov 2015to Aug 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 months to 6 years
- All sexes
- Healthy volunteers accepted
- Child
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
Who may be able to join
- • 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country.
United States1 site
Penn State Milton S. Hershey Medical Center
Hershey, Pennsylvania, 17033
About this study
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.
Read the 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:
- 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.
- 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..
- Conditions
- Autism Spectrum Disorder, Developmental Delay
- Being tested
- Saliva collection, Vineland Adaptive Behavior Scale-II Assessment
- Medical subject headings
- Autism Spectrum Disorder, Learning Disabilities
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Saliva collectionOther
Collection of saliva via swab for miRNA processing
Vineland Adaptive Behavior Scale-II AssessmentOther
| Study group | Role | What they receive |
|---|---|---|
| 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 Receives: 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 Receives: Other: Saliva collection; Other: Vineland Adaptive Behavior Scale-II Assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
salivary miRNA profile
Measures of miRNA abundance in saliva
Measured: at time of collection (between 18 months and 6 years of age)
Secondary outcomes (2)
Measures of adaptive function
Vineland adaptive behavior composite score
Measured: at time of enrollment (between 18 months and 6 years)
Measure of autistic behavior
Autism Diagnostic Observation Schedule (ADOS) Composite Score (when clinically indicated)
Measured: at time of enrollment (between 18 months and 6 years)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Mar 2016 (estimated)
- Study startNov 2015
- Primary completionAug 2018
- Study completionAug 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 304 participants (actual)
Sponsor and investigators
- Lead sponsor
- Milton S. Hershey Medical Center
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Steven Hicks, Milton S. Hershey Medical Center
- Investigators
- Steven Hicks, MD, PhD, Principal investigator, Milton S. Hershey Medical Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02712853
- Sponsor's protocol ID
- Study00003658
- Status last verified
- Aug 2018
- First submitted
- 8 Feb 2016
- Last updated
- 22 Aug 2018
- Results posted
- No
- Data monitoring committee
- Yes
- Individual data sharing
- No: IPD will not be made available
Publications
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.
PubMed 25126405Sarachana 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.
PubMed 20374639Abu-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.
PubMed 18563458
Study at a glance
From the registry record, last updated by the sponsor on 22 Aug 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Improving Autism Screening With Brain-Related miRNA
- ClinicalTrials.gov ID
- NCT02712853
- Acronym / sponsor ID
- Study00003658
- Conditions
- Autism Spectrum Disorder, Developmental Delay
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 304 participants (actual)
- Lead sponsor
- Milton S. Hershey Medical CenterUniversity, hospital or other
- Study start
- Nov 2015 (actual)
- Primary completion
- Aug 2018 (actual)
- Study completion
- Aug 2018 (actual)
- First posted
- 18 Mar 2016 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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:
- 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.
- 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..
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Autism Spectrum Disorder (ASD) | – | Other: Saliva collection, Other: Vineland Adaptive Behavior Scale-II AssessmentAge 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 |
| Control | – | Other: Saliva collection, Other: Vineland Adaptive Behavior Scale-II AssessmentAge 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 |
Who may qualify
- Ages
- 18 months to 6 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- 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
Key inclusion criteria (4 listed)
- • Age at enrollment: 18 months and 6 years (inclusive)
Key exclusion criteria (5 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Saliva collectionCollection of saliva via swab for miRNA processing | Other | Autism Spectrum Disorder (ASD), Control |
| Vineland Adaptive Behavior Scale-II Assessment | Other | Autism Spectrum Disorder (ASD), Control |
Primary outcome
salivary miRNA profile
Time frame: at time of collection (between 18 months and 6 years of age)
Measures of miRNA abundance in saliva
2 secondary outcomes
Measures of adaptive function
Time frame: at time of enrollment (between 18 months and 6 years)
Measure of autistic behavior
Time frame: at time of enrollment (between 18 months and 6 years)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Aug 2018.
- Background: PubMed 25126405Mundalil 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.
- Background: PubMed 20374639Sarachana 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.
- Background: PubMed 18563458Abu-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.
- Individual participant dataSharing planned: No. IPD will not be made available
Related trials for Autism Spectrum Disorder
Recruiting
Effectiveness of Clown Therapy in Facilitating Dental Visits for Children With Autism Spectrum Disorder
Autism Spectrum Disorder (ASD
Recruiting
Cerebellar Transcranial Direct Current Stimulation (tDCS) in Children With Autism Spectrum Disorder: Raynor Cerebellum Project
Autism Spectrum Disorder
Not yet recruiting
QAIAx - SGI/SI Smart Health Cities: Microcity Enclave Program (Quantum SI/AGI Agency a/k/a AI City Hall Project - UPSTO App Nos. 64/074,526, 64/063,557, 64/105,164, 63/903,181, 63/729,428, 64/125,360; USPTO EO 9424 Assignment ID: 2101042 / ARN: REEL/FRAME: 76481/0026 - OUSD-R&E, Department of War)
Asperger's Disorder, Asperger Disorder
Not yet recruiting
Transdiagnostic Sleep and Circadian Treatment for Autistic Adolescents
Sleep, Autism Spectrum Disorder
RecruitingObservational study
Effectiveness of the Autism Pupil Screen (APS) Detect Pupillometer for Identifying Autism Spectrum Disorder (ASD) in Routine Healthcare
Autism Spectrum Disorder
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Steven Hicks, MD, PhD principal investigator
Milton S. Hershey Medical Center
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autism Spectrum Disorder and Developmental Delay, run by Milton S. Hershey Medical Center at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Aug 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
salivary miRNA profile (time frame: at time of collection (between 18 months and 6 years of age)). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02712853, which also lists 3 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Aug 2018.