AutismNCT01582256
Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without CNVs
An observational study of Autism, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
The study aims to investigate whether neuropsychological function (particularly cognitive flexibility and executive function), functional (assessed by resting functional MRI, rfMRI) and structural connectivity (assessed by DSI), and electrophysiological function (assessed by event-related potential [ERP]: mismatch… Read more about this study
- Who is it for?
- Ages 10 to 25 years
- Conditions the study is for
- Autism
- How many people
- 132 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Aug 2012to 31 Jul 2015
- 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 10 to 25 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: The sample (6 groups) consists of 44 individuals with clinical diagnosis of ASD confirmed by the ADI-R and ADOS assessments (22 with CNVs and 22 without CNVs), their unaffected siblings (n=22 for each group) and age-, sex-, handedness-, and IQ-matched school comparison groups (22 for each group).
Who may be able to join
- subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV and ICD-10 criteria, which was made by a board-certificated child psychiatrists at the first visit and following visits (probands only, exclusion criteria for unaffected siblings and school controls);
- their ages range from 10 to 25 (because all the probands with CNV aged > 10);
- both parents are Han Chinese; and
- subjects and their parents consent to participate in this study for complete phenotype assessments (3 visits of assessments).
Who cannot join
- if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without Copy Number Variation and Their Unaffected Siblings
The study aims to investigate whether neuropsychological function (particularly cognitive flexibility and executive function), functional (assessed by resting functional MRI, rfMRI) and structural connectivity (assessed by DSI), and electrophysiological function (assessed by event-related potential [ERP]: mismatch negativity, MMN and P50) can be effective cognitive endophenotypes (biomarkers) for Autism spectrum disorders (ASD).
Read the detailed description
Autism spectrum disorders (ASD) is a common severe, multi-factorial, highly heritable, clinically and genetically heterogeneous, life-long impairing childhood-onset neurodevelopmental disorder. Due to its high prevalence and severe lifelong impairment without effective prevention and pharmacological treatment, this disastrous disease has been prioritized for epidemiological, molecular genetic and biomarker studies in the world.
Specific aims:
- To validate the structural and functional connectivity in fronto-temporal, and cortico-striato-thalamic circuitry as effective imaging endophenotypes by demonstrating the differences between ASD probands with CNVs findings (n=22) and their unaffected siblings (n=22), probands without CNVs and known genetic markers related to ASD (n=22) and their unaffected siblings (n=22), and matched neurotypicals (n=22 for each);
- To validate the neuropsychological functioning (particularly set-shifting and executive function) as effective neuropsychological endophenotypes by demonstrating the differences among the six groups;
- To validate the electrophysiological functioning assessed by ERP as effective neurophysiological endophenotypes by demonstrating the differences among the 6 groups; and
- To correlate the data from structural and functional connectivity, neuropsychology, and electrophysiology involving altered brain functioning.
The investigators anticipate that probands with CNVs may have higher level of decreased structural and functional connectivity, impaired ERP and neuropsychological functioning than probands without CNVs. The alterations in the structural and functional connectivity, neurophysiological and neuropsychological functioning would be observed in the unaffected siblings as compared to neurotypical participants. If CNV in the probands is proved to be de novo mutation and their unaffected siblings did not have such results, the likelihood of different functioning between their unaffected siblings and neurotypical participants would be decreased. The genetic dosage (CNV, rare mutation with moderate to large clinical effect, versus multiple common variants with very small effects, with regards to unaffected siblings, and neurotypicals) is anticipated to pose the strongest effects on the microstructural integrity of white matter, followed by functional connectivity and electrophysiological function, and neuropsychological function with the least effect.
- Conditions
- Autism
- Medical subject headings
- Autistic Disorder
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| ASD+CNVs | Not described | |
| ASD-CNVs | Not described | |
| Unaffected siblings of ASD+CNVs | Not described | |
| Unaffected siblings of ASD-CNVs | Not described | |
| Neurotypicals for ASD+CNVs comparisons | Not described | |
| Neurotypicals for ASD-CNVs comparisons | Not described |
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Apr 2012 (estimated)
- Study start1 Aug 2012
- Primary completion31 Jul 2015
- Study completion31 Jul 2015
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for AutismStudies 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
- Other
- Time perspective
- Other
- Enrolment
- 132 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Statistical Center, NTUHCTC, National Taiwan University Hospital
- Investigators
- Susan Shur-Fen Gau, MD, PhD, Principal investigator, National Taiwan University Hospital & College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01582256
- Sponsor's protocol ID
- 201201006RIB
- Status last verified
- Sep 2021
- First submitted
- 18 Apr 2012
- Last updated
- 2 Sep 2021
- Results posted
- No
- Data monitoring committee
- Yes
Publications
Chien YL, Chen YC, Chiu YN, Tsai WC, Gau SS. A translational exploration of the effects of WNT2 variants on altered cortical structures in autism spectrum disorder. J Psychiatry Neurosci. 2021 Dec 3;46(6):E647-E658. doi: 10.1503/jpn.210022. Print 2021 Nov-Dec.
PubMed 34862305Seng GJ, Tseng WL, Chiu YN, Tsai WC, Wu YY, Gau SS. Executive functions in youths with autism spectrum disorder and their unaffected siblings. Psychol Med. 2021 Nov;51(15):2571-2580. doi: 10.1017/S0033291720001075. Epub 2020 Apr 30.
PubMed 32349803Chien YL, Chou MC, Chiu YN, Chou WJ, Wu YY, Tsai WC, Gau SS. ADHD-related symptoms and attention profiles in the unaffected siblings of probands with autism spectrum disorder: focus on the subtypes of autism and Asperger's disorder. Mol Autism. 2017 Jul 25;8:37. doi: 10.1186/s13229-017-0153-9. eCollection 2017.
PubMed 28770037Chien YL, Tu EN, Gau SS. School Functions in Unaffected Siblings of Youths with Autism Spectrum Disorders. J Autism Dev Disord. 2017 Oct;47(10):3059-3071. doi: 10.1007/s10803-017-3223-0.
PubMed 28685410Chiang HL, Chen YJ, Lin HY, Tseng WI, Gau SS. Disorder-Specific Alteration in White Matter Structural Property in Adults With Autism Spectrum Disorder Relative to Adults With ADHD and Adult Controls. Hum Brain Mapp. 2017 Jan;38(1):384-395. doi: 10.1002/hbm.23367. Epub 2016 Sep 15.
PubMed 27630075
Study at a glance
From the registry record, last updated by the sponsor on 2 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Behavior, Neuropsychology, Neuroimage and Electrophysiology in Autistic Individuals With and Without Copy Number Variation and Their Unaffected Siblings
- ClinicalTrials.gov ID
- NCT01582256
- Acronym / sponsor ID
- 201201006RIB
- Conditions
- Autism
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 132 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 1 Aug 2012 (actual)
- Primary completion
- 31 Jul 2015 (actual)
- Study completion
- 31 Jul 2015 (actual)
- First posted
- 20 Apr 2012 (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 study aims to investigate whether neuropsychological function (particularly cognitive flexibility and executive function), functional (assessed by resting functional MRI, rfMRI) and structural connectivity (assessed by DSI), and electrophysiological function (assessed by event-related potential [ERP]: mismatch negativity, MMN and P50) can be effective cognitive endophenotypes (biomarkers) for Autism spectrum disorders (ASD).
Detailed description
Autism spectrum disorders (ASD) is a common severe, multi-factorial, highly heritable, clinically and genetically heterogeneous, life-long impairing childhood-onset neurodevelopmental disorder. Due to its high prevalence and severe lifelong impairment without effective prevention and pharmacological treatment, this disastrous disease has been prioritized for epidemiological, molecular genetic and biomarker studies in the world.
Specific aims:
- To validate the structural and functional connectivity in fronto-temporal, and cortico-striato-thalamic circuitry as effective imaging endophenotypes by demonstrating the differences between ASD probands with CNVs findings (n=22) and their unaffected siblings (n=22), probands without CNVs and known genetic markers related to ASD (n=22) and their unaffected siblings (n=22), and matched neurotypicals (n=22 for each);
- To validate the neuropsychological functioning (particularly set-shifting and executive function) as effective neuropsychological endophenotypes by demonstrating the differences among the six groups;
- To validate the electrophysiological functioning assessed by ERP as effective neurophysiological endophenotypes by demonstrating the differences among the 6 groups; and
- To correlate the data from structural and functional connectivity, neuropsychology, and electrophysiology involving altered brain functioning.
The investigators anticipate that probands with CNVs may have higher level of decreased structural and functional connectivity, impaired ERP and neuropsychological functioning than probands without CNVs. The alterations in the structural and functional connectivity, neurophysiological and neuropsychological functioning would be observed in the unaffected siblings as compared to neurotypical participants. If CNV in the probands is proved to be de novo mutation and their unaffected siblings did not have such results, the likelihood of different functioning between their unaffected siblings and neurotypical participants would be decreased. The genetic dosage (CNV, rare mutation with moderate to large clinical effect, versus multiple common variants with very small effects, with regards to unaffected siblings, and neurotypicals) is anticipated to pose the strongest effects on the microstructural integrity of white matter, followed by functional connectivity and electrophysiological function, and neuropsychological function with the least effect.
Study design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| ASD+CNVs | – | – |
| ASD-CNVs | – | – |
| Unaffected siblings of ASD+CNVs | – | – |
| Unaffected siblings of ASD-CNVs | – | – |
| Neurotypicals for ASD+CNVs comparisons | – | – |
| Neurotypicals for ASD-CNVs comparisons | – | – |
Who may qualify
- Ages
- 10 to 25 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- The sample (6 groups) consists of 44 individuals with clinical diagnosis of ASD confirmed by the ADI-R and ADOS assessments (22 with CNVs and 22 without CNVs), their unaffected siblings (n=22 for each group) and age-, sex-, handedness-, and IQ-matched school comparison groups (22 for each group).
Key inclusion criteria (4 listed)
- subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV and ICD-10 criteria, which was made by a board-certificated child psychiatrists at the first visit and following visits (probands only, exclusion criteria for unaffected siblings and school controls);
- their ages range from 10 to 25 (because all the probands with CNV aged > 10);
- both parents are Han Chinese; and
- subjects and their parents consent to participate in this study for complete phenotype assessments (3 visits of assessments).
Key exclusion criteria (1 listed)
- if they currently meet criteria or have a history of the following condition as defined by DSM-IV: Schizophrenia, Schizoaffective Disorder, or Organic Psychosis.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Not reported in the source record.
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 2 Sep 2021.
- Derived from this study: PubMed 34862305Chien YL, Chen YC, Chiu YN, Tsai WC, Gau SS. A translational exploration of the effects of WNT2 variants on altered cortical structures in autism spectrum disorder. J Psychiatry Neurosci. 2021 Dec 3;46(6):E647-E658. doi: 10.1503/jpn.210022. Print 2021 Nov-Dec.
- Derived from this study: PubMed 32349803Seng GJ, Tseng WL, Chiu YN, Tsai WC, Wu YY, Gau SS. Executive functions in youths with autism spectrum disorder and their unaffected siblings. Psychol Med. 2021 Nov;51(15):2571-2580. doi: 10.1017/S0033291720001075. Epub 2020 Apr 30.
- Derived from this study: PubMed 28770037Chien YL, Chou MC, Chiu YN, Chou WJ, Wu YY, Tsai WC, Gau SS. ADHD-related symptoms and attention profiles in the unaffected siblings of probands with autism spectrum disorder: focus on the subtypes of autism and Asperger's disorder. Mol Autism. 2017 Jul 25;8:37. doi: 10.1186/s13229-017-0153-9. eCollection 2017.
- Derived from this study: PubMed 28685410Chien YL, Tu EN, Gau SS. School Functions in Unaffected Siblings of Youths with Autism Spectrum Disorders. J Autism Dev Disord. 2017 Oct;47(10):3059-3071. doi: 10.1007/s10803-017-3223-0.
- Derived from this study: PubMed 27630075Chiang HL, Chen YJ, Lin HY, Tseng WI, Gau SS. Disorder-Specific Alteration in White Matter Structural Property in Adults With Autism Spectrum Disorder Relative to Adults With ADHD and Adult Controls. Hum Brain Mapp. 2017 Jan;38(1):384-395. doi: 10.1002/hbm.23367. Epub 2016 Sep 15.
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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.
Susan Shur-Fen Gau, MD, PhD principal investigator
National Taiwan University Hospital & College of Medicine
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, 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 4 inclusion and 1 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 2 Sep 2021. 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.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01582256, which also lists 5 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 2 Sep 2021.