AzTrials
AzTrials

AutismNCT00494754

Clinical and Genetic Study of Autism Spectrum Disorder

An observational study of Autism, run by National Taiwan University Hospital at 4 sites in Taiwan.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Official record
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Trial summary

The purpose of this study is to prepare instruments for Autism Spectrum Disorder (ASD), to collect clinical, neuropsychological, and genetic data of ASD probands and their family, and to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample Read more about this study

Who is it for?
Ages 3 to 18 years
Conditions the study is for
Autism
How many people
300 participants
Where
4 sitesTaiwan
Study dates
May 2007to Apr 2011
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 18 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Study population: The sample will consist of 300 children and adolescents with ASD, aged 3-18.

Who may be able to join

  • subjects have a clinical diagnosis of autistic disorder, Asperger disorder, or atypical autism defined by the DSM-IV and ICD-10, which was made by a full-time board-certificated child psychiatrist at the first visit and following visits;
  • their ages range from 3 to 18 when we conduct the study;
  • subjects have at least one biological parent;
  • both parents are Han Chinese; and (5) subjects and their biological parents (and siblings if any) consent to participate in this study for complete phenotype assessments and blood withdraw for genetic study

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.
  • if they completely cannot cooperate with blood withdrawal, collection of saliva, or buccal swabs.

Trial locations and contacts

4 sites in 1 country.

Taiwan4 sites

  • National Taiwan University Hospital

    Taipei, 10002

  • Taipei City Psychiatric Center

    Taipei

  • Chang Gung Children's Hospital

    Taoyuan

  • Taoyuan Mental Hospital

    Taoyuan

Other trials in Taiwan

About this study

The purpose of this study is to prepare instruments for Autism Spectrum Disorder (ASD), to collect clinical, neuropsychological, and genetic data of ASD probands and their family, and to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample

Read the detailed description

Autism is a pervasive neurodevelopmental disorder with prominent reciprocal social and communication impairment and restricted repetitive behavior or interest. Based on the number of symptoms and functional impairment, autistic disorder, Asperger disorder, and atypical autism (or PDDNOS) are conceptualized as the autism spectrum disorder (ASD). Most recent survey estimated the prevalence of narrow diagnosis of autistic disorder to be around 0.1% to 0.2%, and 0.59 % to 0.63% for ASD, with a four-fold male predominance. Due to high heritability (> 0.9), high family recurrence risk (λ = 60), and severe impairment without effective prevention and treatment available for ASD, this disastrous disease has been prioritized for molecular genetic study from public health perspective. The proposed research is the first systematic approach combining clinical and molecular genetic study of ASD involving multi-sites and three research cores: assessment core (by Gau SS and Wu YY), molecular genetics core (by Chen CH), and data/statistics core (by Gau SS).

The long-term objective of this study is to establish clinical and genetic database of autism and their family for etiology study, exploration of pathogenesis, and developing new treatment. The specific aims are:

  1. to establish the psychometric properties of three Chinese versions of rating scales for ASD: SCQ, SRS, and ABC;
  2. to collect clinical, neuropsychological, and genetic data of ASD probands and their family and
  3. to identify the genetic variants close to etiological genes of ASD in a Taiwanese sample using candidate gene case-control association study design (e.g., Neuroligin gene family, MeCP2 gene, and FOXP2 gene, parent trio and population-based studies) and whole genome linkage analysis for multiplex families.

After well-preparation of instruments, DNA collection procedure, and assessor's training in the first 6 months, we will recruit 40, 170, and 90 ASD families in the first, second, and third year of the project, respectively. The instruments include the ADI-R, ADOS, K-SADS-E, SCQ, SRS, and ABC for measuring autistic psychopathology; WISC-III, MSEL and PPVT for cognitive ability; CPT, CANTAB, and WCST for neuropsychological functioning, and MRI, MRS, and DSI for brain imaging study.

We anticipate the establishment of the database of 300 ASD families, completion of the mutation screening of several candidate genes, and determination of their association with ASD and its intermediate phenotype in our sample. The identification of susceptible genes for ASD would be a major breakthrough in child psychiatry because this revelation would facilitate the scientific diagnosis of autism and as a result, it would shed light on the pathogenesis of autism and contribute to the development of the novel, specific and effective treatment of this devastating disease.

Conditions
Autism
Keywords
autism spectrum disorder, family genetic study, gene, phenotype, endophenotype
Medical subject headings
Autistic Disorder, Autism Spectrum Disorder

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted2 Jul 2007 (estimated)
  2. Study startMay 2007
  3. Primary completionApr 2011
  4. Study completionApr 2011

Resources

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
Family based
Time perspective
Other
Enrolment
300 participants (actual)
IDs, dates and publications
ClinicalTrials.gov ID
NCT00494754
Sponsor's protocol ID
9561709027
Status last verified
May 2021
First submitted
29 Jun 2007
Last updated
7 May 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 34862305

  • Chien YL, Wu YY, Chen HI, Tsai WC, Chiu YN, Liu SK, Gau SS. The central nervous system patterning gene variants associated with clinical symptom severity of autism spectrum disorders. J Formos Med Assoc. 2017 Oct;116(10):755-764. doi: 10.1016/j.jfma.2016.11.015. Epub 2017 Jan 9.

    PubMed 28081867

  • Yin CL, Chen HI, Li LH, Chien YL, Liao HM, Chou MC, Chou WJ, Tsai WC, Chiu YN, Wu YY, Lo CZ, Wu JY, Chen YT, Gau SS. Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder. Mol Autism. 2016 Apr 1;7:23. doi: 10.1186/s13229-016-0087-7. eCollection 2016.

    PubMed 27042285

  • Chiu YN, Chou MC, Lee JC, Wong CC, Chou WJ, Wu YY, Chien YL, Gau SS. Determinants of maternal satisfaction with diagnosis disclosure of autism. J Formos Med Assoc. 2014 Aug;113(8):540-8. doi: 10.1016/j.jfma.2012.07.040. Epub 2012 Nov 6.

    PubMed 25037759

  • Chen CH, Huang CC, Cheng MC, Chiu YN, Tsai WC, Wu YY, Liu SK, Gau SS. Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders. Mol Autism. 2014 Jun 25;5:36. doi: 10.1186/2040-2392-5-36. eCollection 2014.

    PubMed 24999380

  • Lau WY, Gau SS, Chiu YN, Wu YY. Autistic traits in couple dyads as a predictor of anxiety spectrum symptoms. J Autism Dev Disord. 2014 Nov;44(11):2949-63. doi: 10.1007/s10803-014-2151-5.

    PubMed 24907095

  • Chien WH, Gau SS, Liao HM, Chiu YN, Wu YY, Huang YS, Tsai WC, Tsai HM, Chen CH. Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders. Mol Autism. 2013 Aug 1;4(1):26. doi: 10.1186/2040-2392-4-26.

    PubMed 23915500

  • Chien WH, Gau SS, Chen CH, Tsai WC, Wu YY, Chen PH, Shang CY, Chen CH. Increased gene expression of FOXP1 in patients with autism spectrum disorders. Mol Autism. 2013 Jul 1;4(1):23. doi: 10.1186/2040-2392-4-23.

    PubMed 23815876

  • Lin PI, Chien YL, Wu YY, Chen CH, Gau SS, Huang YS, Liu SK, Tsai WC, Chiu YN. The WNT2 gene polymorphism associated with speech delay inherent to autism. Res Dev Disabil. 2012 Sep-Oct;33(5):1533-40. doi: 10.1016/j.ridd.2012.03.004. Epub 2012 Apr 21.

    PubMed 22522212

  • Chien YL, Wu YY, Chen CH, Gau SS, Huang YS, Chien WH, Hu FC, Chao YL. Association of HLA-DRB1 alleles and neuropsychological function in autism. Psychiatr Genet. 2012 Feb;22(1):46-9. doi: 10.1097/YPG.0b013e32834915ae.

    PubMed 21716163

Questions about this trial

What is this clinical trial studying?

An observational study of Autism, run by National Taiwan University Hospital at 4 sites 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 2 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 7 May 2021. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 4 sites 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 NCT00494754, which also lists 10 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 7 May 2021.

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