Clinical and Genetic Study of Autism Spectrum Disorder
Recruitment status was Recruiting
|First Received Date ICMJE||June 29, 2007|
|Last Updated Date||December 14, 2009|
|Start Date ICMJE||May 2007|
|Primary Completion Date||Not Provided|
|Current Primary Outcome Measures ICMJE||Not Provided|
|Original Primary Outcome Measures ICMJE||Not Provided|
|Change History||Complete list of historical versions of study NCT00494754 on ClinicalTrials.gov Archive Site|
|Current Secondary Outcome Measures ICMJE||Not Provided|
|Original Secondary Outcome Measures ICMJE||Not Provided|
|Current Other Outcome Measures ICMJE||Not Provided|
|Original Other Outcome Measures ICMJE||Not Provided|
|Brief Title ICMJE||Clinical and Genetic Study of Autism Spectrum Disorder|
|Official Title ICMJE||Clinical and Genetic Study of Autism Spectrum Disorder|
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
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:
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.
|Study Type ICMJE||Observational|
|Study Design ICMJE||Observational Model: Family-Based|
|Target Follow-Up Duration||Not Provided|
|Biospecimen||Retention: Samples With DNA
The subjects will receive blood withdrawal. The blood sample will be used for establishing lymphoblastoid cell lines, which will be used for molecular genetic experiments.
|Sampling Method||Non-Probability Sample|
The sample will consist of 300 children and adolescents with ASD, aged 3-18.
|Intervention ICMJE||Not Provided|
|Study Group/Cohort (s)||Not Provided|
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
|Recruitment Status ICMJE||Recruiting|
|Estimated Enrollment ICMJE||300|
|Estimated Completion Date||January 2010|
|Primary Completion Date||Not Provided|
|Eligibility Criteria ICMJE||
|Ages||3 Years to 18 Years|
|Accepts Healthy Volunteers||No|
|Location Countries ICMJE||Taiwan|
|NCT Number ICMJE||NCT00494754|
|Other Study ID Numbers ICMJE||9561709027|
|Has Data Monitoring Committee||Yes|
|Responsible Party||Susan Shur-Fen Gau, National Taiwan University Hospital|
|Study Sponsor ICMJE||National Taiwan University Hospital|
|Collaborators ICMJE||National Science Council, Taiwan|
|Information Provided By||National Taiwan University Hospital|
|Verification Date||December 2009|
ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP