Autism Spectrum DisorderNCT03676673
Deciphering the Autism Spectrum Disorder Beyond Genomics
An observational study of Autism Spectrum Disorder, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
The investigators propose to study the molecular etiology of autism spectrum disorder(ASD) from a genomic, metabolomics and network biology perspective by combining data of gene expression, sequence variations and metabolism conditions of patients with ASD. Read more about this study
- Who is it for?
- Ages 3 to 20 years
- Conditions the study is for
- Autism Spectrum Disorder
- What is being tested?
- Psychiatric diagnosis
- How many people
- 200 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Aug 2018to 31 Dec 2021
- 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 3 to 20 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: This study will recruit (1) 120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria for the transcriptome NGS and the metabolites profiles from the Children's Mental Health Center at National Taiwan University Hospital (NTUH); (2) 40 unaffected siblings (SIB) of ASD probands; and (3) 40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5.
Who may be able to join
- a clinical diagnosis of ASD defined by the DSM-5 made by board-certificated child psychiatrists at the first visit and following visits
- ages range from 3 to 20
- at least one biological parent
- parents that are both Taiwanese
- subjects and their biological parents consent to participate in this study for complete phenotype assessments and blood withdraw for this study.
Who cannot join
- schizophrenia
- schizoaffective disorder
- organic psychosis.
- Probands with fragile X, intellectual disability, epilepsy, ADHD, and autoimmune diseases will be noted.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Deciphering the Autism Spectrum Disorder Beyond Genomics: AI Learning for Whole Exome Sequencing, Metabolomics and Phenotype
The investigators propose to study the molecular etiology of autism spectrum disorder(ASD) from a genomic, metabolomics and network biology perspective by combining data of gene expression, sequence variations and metabolism conditions of patients with ASD. As the complexity of ASD, the investigators consider both science-based and clinic-based measurements to ensure no missing of any relevant domain of the complex relations. In addition to the collection of biological factors, the investigators will also collect the comprehensive clinical, environmental, neurocognitive, MRI images to integrate the multiple factors into the matrix features. Finally the investigators will apply the machine learning to provide us the aspects of the underline pathway back into the other sample distribution published as the open dataset to verify and adjust the features in order to achieve satisfactory level of the reliability and stability of the algorithms. With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles. The results will be using real-time PCR (qPCR) or conventional Sanger sequencing to verified. The investigators will use both liquid chromatography/time-of-flight mass spectrometry (LC-MS) and gas chromatography/quadrupole mass spectrometry (GC-MS) for a full assessment of a wide range of metabolites with over 820 metabolites. Hence, this 3-year proposal consists two main parts - the ASD transcriptome sequence analysis by NGS technology and the metabolomics study of ASD via LC-MS and GC-MS technology.
Read the detailed description
Primary Aim: To establish a stable and reliable neurogenesis molecular level pathways and potential pathogenesis mechanisms for ASD by using the machine learning approach of the integrated data of biological variables (NGS data and metabolomics) and the comprehensive clinical, environmental, neurocognitive, and MRI images data.
- To investigate the majority of candidate risk factors from the multiple domains collected in this project;
- To apply network-based algorithms (including deep learning) to approach the underlining pathogenesis mechanism of ASD;
- To further verify the machine learning algorithm based on the data collected in this project through other open access database for stability and reliability of our algorithm.
Secondary Aims:
Aim I: To identify the ASD biomarkers and disease mechanism using NGS technology.
- To investigate the transcriptome profiles occurring in ASD patients;
- To identify ASD-associated exome sequence variations from a network biology perspective;
- To identify ASD-associated gene-gene interaction sub-networks; and
- To explore how the sequencing outcomes, regulate and interact with brain structure and function even linking to neuropsychological functions and behavioral phenotypes.
Aim II: To characterize ASD-affected metabolites.
- By using LC-MS and GC-MS, we will perform metabolomics analysis, including targeted and untargeted analysis;
- To identify the potential metabolomics profiles and pathways related to behavioral phenotypes, neuropsychological functions, neuroanatomy and brain functions in patients with ASD; and
- To identify how the metabolites variance distributions are manipulated through the genetic expressions.
- Conditions
- Autism Spectrum Disorder
- Being tested
- Psychiatric diagnosis
- Medical subject headings
- Autism Spectrum Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Psychiatric diagnosisOther
Kiddie Schedule for Affective Disorders \& Schizophrenia (K-SADS) for DSM-5
| Study group | Role | What they receive |
|---|---|---|
| ASD group | 120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria Receives: Other: Psychiatric diagnosis | |
| Unaffected siblings of ASD | 40 unaffected siblings of ASD probands Receives: Other: Psychiatric diagnosis | |
| TD group | 40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5 Receives: Other: Psychiatric diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
ASD-associated transcriptome profiles
With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles.
Measured: Baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted19 Sep 2018
- Study start1 Aug 2018
- Primary completion31 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by National Taiwan University HospitalThe sponsor's other registered studies.
- 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
- 200 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03676673
- Sponsor's protocol ID
- 201801044RINC
- Status last verified
- Sep 2022
- First submitted
- 17 Sep 2018
- Last updated
- 26 Sep 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 26 Sep 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Deciphering the Autism Spectrum Disorder Beyond Genomics: AI Learning for Whole Exome Sequencing, Metabolomics and Phenotype
- ClinicalTrials.gov ID
- NCT03676673
- Acronym / sponsor ID
- 201801044RINC
- Conditions
- Autism Spectrum Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 200 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 1 Aug 2018 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 19 Sep 2018 (actual)
- 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 investigators propose to study the molecular etiology of autism spectrum disorder(ASD) from a genomic, metabolomics and network biology perspective by combining data of gene expression, sequence variations and metabolism conditions of patients with ASD. As the complexity of ASD, the investigators consider both science-based and clinic-based measurements to ensure no missing of any relevant domain of the complex relations. In addition to the collection of biological factors, the investigators will also collect the comprehensive clinical, environmental, neurocognitive, MRI images to integrate the multiple factors into the matrix features. Finally the investigators will apply the machine learning to provide us the aspects of the underline pathway back into the other sample distribution published as the open dataset to verify and adjust the features in order to achieve satisfactory level of the reliability and stability of the algorithms. With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles. The results will be using real-time PCR (qPCR) or conventional Sanger sequencing to verified. The investigators will use both liquid chromatography/time-of-flight mass spectrometry (LC-MS) and gas chromatography/quadrupole mass spectrometry (GC-MS) for a full assessment of a wide range of metabolites with over 820 metabolites. Hence, this 3-year proposal consists two main parts - the ASD transcriptome sequence analysis by NGS technology and the metabolomics study of ASD via LC-MS and GC-MS technology.
Detailed description
Primary Aim: To establish a stable and reliable neurogenesis molecular level pathways and potential pathogenesis mechanisms for ASD by using the machine learning approach of the integrated data of biological variables (NGS data and metabolomics) and the comprehensive clinical, environmental, neurocognitive, and MRI images data.
- To investigate the majority of candidate risk factors from the multiple domains collected in this project;
- To apply network-based algorithms (including deep learning) to approach the underlining pathogenesis mechanism of ASD;
- To further verify the machine learning algorithm based on the data collected in this project through other open access database for stability and reliability of our algorithm.
Secondary Aims:
Aim I: To identify the ASD biomarkers and disease mechanism using NGS technology.
- To investigate the transcriptome profiles occurring in ASD patients;
- To identify ASD-associated exome sequence variations from a network biology perspective;
- To identify ASD-associated gene-gene interaction sub-networks; and
- To explore how the sequencing outcomes, regulate and interact with brain structure and function even linking to neuropsychological functions and behavioral phenotypes.
Aim II: To characterize ASD-affected metabolites.
- By using LC-MS and GC-MS, we will perform metabolomics analysis, including targeted and untargeted analysis;
- To identify the potential metabolomics profiles and pathways related to behavioral phenotypes, neuropsychological functions, neuroanatomy and brain functions in patients with ASD; and
- To identify how the metabolites variance distributions are manipulated through the genetic expressions.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| ASD group | – | Other: Psychiatric diagnosis120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria |
| Unaffected siblings of ASD | – | Other: Psychiatric diagnosis40 unaffected siblings of ASD probands |
| TD group | – | Other: Psychiatric diagnosis40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5 |
Who may qualify
- Ages
- 3 to 20 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- This study will recruit (1) 120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria for the transcriptome NGS and the metabolites profiles from the Children's Mental Health Center at National Taiwan University Hospital (NTUH); (2) 40 unaffected siblings (SIB) of ASD probands; and (3) 40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5.
Key inclusion criteria (5 listed)
- a clinical diagnosis of ASD defined by the DSM-5 made by board-certificated child psychiatrists at the first visit and following visits
- ages range from 3 to 20
- at least one biological parent
- parents that are both Taiwanese
- subjects and their biological parents consent to participate in this study for complete phenotype assessments and blood withdraw for this study.
Key exclusion criteria (4 listed)
- schizophrenia
- schizoaffective disorder
- organic psychosis.
- Probands with fragile X, intellectual disability, epilepsy, ADHD, and autoimmune diseases will be noted.
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 |
|---|---|---|
| Psychiatric diagnosisKiddie Schedule for Affective Disorders \& Schizophrenia (K-SADS) for DSM-5 | Other | ASD group, TD group, Unaffected siblings of ASD |
Primary outcome
ASD-associated transcriptome profiles
Time frame: Baseline
With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles.
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 26 Sep 2022.
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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.
The record lists no contact. Use the official record to reach the sponsor.
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, run by National Taiwan University Hospital at 1 site in Taiwan.
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 5 inclusion and 4 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 26 Sep 2022. 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 Taiwan. 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?
ASD-associated transcriptome profiles (time frame: Baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 26 Sep 2022.