Autism Spectrum DisorderNCT02228876
A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder
An observational study of Autism Spectrum Disorder, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
This 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to conduct CNV experiments and the genotype-phenotype correlations. Read more about this study
- Who is it for?
- Ages 3 years and older
- Conditions the study is for
- Autism Spectrum Disorder
- How many people
- 360 participants
- Where
- 1 siteTaiwan
- Study dates
- 1 Aug 2014to 31 Jul 2017
- 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 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Based on our preliminary CNV results of 339 probands, approximately 120 probands had been identified to have CNVs larger than 500kb. In the present project, the parents and siblings of the probands with CNVs larger than 500kb will be recruited (estimated sample size, parents = 200, siblings = 40) and reassess the ~120 probands.
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 and ASD defined by the DSM-5, which was made by board-certificated child psychiatrists at the first visit and following visits;
- their ages range from 3 to 30;
- subjects have at least one biological parent;
- both parents are Han Chinese; and
- subjects and their biological parents 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.
Trial locations and contacts
1 site in 1 country.
About this study
This 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to conduct CNV experiments and the genotype-phenotype correlations. Based on our previous findings, probands with CNVs larger than 500kb has been identified and their families will be newly recruit in the present project to reveal the origin of the CNVs and reveal the clinical feature of the families. The significant findings in specific genes will conduct pathway analysis to reveal the etiology in ASD, providing further understanding in the disease.
Read the detailed description
Due to its high prevalence, long-term impairment, high genetic component (heritability > 90%), and lack of effective prevention and treatment, ASD has been prioritized for genetic studies. However, despite extensive genetic research, there has been no any conclusive result mainly due to the clinical and genetic heterogeneity of ASD. Given the progress of CNV study in ASD, several challenges remain to be faced with, such as differences in phenotypic definition across different studies; a lack of population norms for CNVs, and a lack of consensus in methods for CNV detection and analysis. In the present study, the large segments of CNV found in ASD probands will be compared with standardized controls from National Center for Genome Medicine (NCGM), Academia Sinica to identify the possible CNVs. The other important issue of CNV research in ASD is to investigate whether the origin of CNVs are inherited or de novo. By collecting the complete background and revealing the CNVs of the parents and siblings, the origin of the CNVs will be uncovered in the present project. The candidate genes from important CNVs will be identified by pathway analysis. Gene expression will be conducted to confirm the pathogenic genes. Notably the present study will help bridge the gap to translate the bench findings to bedside to help early detection of ASD and pave the way developing effective treatment for ASD in the future.
Specific Aims:
With the above-mentioned rationale of this project and limited research budget from NSC, the ultimate goal of this project is to identify the important CNVs to reveal the pathogenic genes for ASD for future translational research in ASD and to prospectively characterize clinical features of ASD individuals with CNV.
The specific aims of this study are as follows,
- To identify important and pathogenic CNVs by comparing the CNVs and CNPs of the controls provided by NCGM , Academia Sinica;
- To assess parents and siblings of ASD patients who were found to have ~500 kb CNVs in our previous study using clinical, psychopathological, and social measures for family study and also to conduct CNV analysis in the families to determine the origin of the CNVs;
- To conduct a follow-up assessments of clinical features, and social and neuropsychological functions of ASD probands with CNV to examine the phenotype changes over time;
- To study the clinical phenotypes between de novo and inherited groups to reveal the pathogenic CNVs;
- To conduct pathway analysis of genes involved in the CNVs, and to confirm the pathogenic genes by conducting gene expression analysis;
- To investigate the associations of clinical phenotypes such as autistic tendency, and social impairments between (1) probands with/without CNVs/controls, and (2) probands/unaffected siblings/controls.
- Conditions
- Autism Spectrum Disorder
- Medical subject headings
- Autism Spectrum Disorder
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnosis of autism
Using the Autism Diagnostic Interview-Revised (ADI-R) to assess the developmental and behavioral aspects of autism, including reciprocal social interaction, communication, and repetitive behaviors and stereotyped patterns
Measured: 1 day
Secondary outcomes (1)
Diagnosis of psychiatric disorders
Using the Schedule for Affective Disorders \& Schizophrenia (K-SADS-E) to assess the DSM-IV diagnosis of ADHD and other psychiatric disorders
Measured: 1 day
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted29 Aug 2014 (estimated)
- Study start1 Aug 2014
- Primary completion31 Jul 2017
- Study completion31 Jul 2017
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
- Other
- Time perspective
- Other
- Enrolment
- 360 participants (actual)
Sponsor and investigators
- Lead sponsor
- National Taiwan University Hospital
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Susan Shur-Fen Gau, MD, PhD, Principal investigator, National Taiwan University Hospital & College of Medicine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02228876
- Sponsor's protocol ID
- 201403019RINA
- Status last verified
- Sep 2021
- First submitted
- 18 Aug 2014
- Last updated
- 5 Sep 2021
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 5 Sep 2021. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Family Study of Copy Number Variations in Patients With Autism Spectrum Disorder
- ClinicalTrials.gov ID
- NCT02228876
- Acronym / sponsor ID
- 201403019RINA
- Conditions
- Autism Spectrum Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 360 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- 1 Aug 2014 (actual)
- Primary completion
- 31 Jul 2017 (actual)
- Study completion
- 31 Jul 2017 (actual)
- First posted
- 29 Aug 2014 (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.
This 3-year proposal is a family-based cohort study to establish a representative sample of probands with ASD and their parents with well-characterized environmental, clinical phenotypes, endophenotypes, and genetic data to conduct CNV experiments and the genotype-phenotype correlations. Based on our previous findings, probands with CNVs larger than 500kb has been identified and their families will be newly recruit in the present project to reveal the origin of the CNVs and reveal the clinical feature of the families. The significant findings in specific genes will conduct pathway analysis to reveal the etiology in ASD, providing further understanding in the disease.
Detailed description
Due to its high prevalence, long-term impairment, high genetic component (heritability > 90%), and lack of effective prevention and treatment, ASD has been prioritized for genetic studies. However, despite extensive genetic research, there has been no any conclusive result mainly due to the clinical and genetic heterogeneity of ASD. Given the progress of CNV study in ASD, several challenges remain to be faced with, such as differences in phenotypic definition across different studies; a lack of population norms for CNVs, and a lack of consensus in methods for CNV detection and analysis. In the present study, the large segments of CNV found in ASD probands will be compared with standardized controls from National Center for Genome Medicine (NCGM), Academia Sinica to identify the possible CNVs. The other important issue of CNV research in ASD is to investigate whether the origin of CNVs are inherited or de novo. By collecting the complete background and revealing the CNVs of the parents and siblings, the origin of the CNVs will be uncovered in the present project. The candidate genes from important CNVs will be identified by pathway analysis. Gene expression will be conducted to confirm the pathogenic genes. Notably the present study will help bridge the gap to translate the bench findings to bedside to help early detection of ASD and pave the way developing effective treatment for ASD in the future.
Specific Aims:
With the above-mentioned rationale of this project and limited research budget from NSC, the ultimate goal of this project is to identify the important CNVs to reveal the pathogenic genes for ASD for future translational research in ASD and to prospectively characterize clinical features of ASD individuals with CNV.
The specific aims of this study are as follows,
- To identify important and pathogenic CNVs by comparing the CNVs and CNPs of the controls provided by NCGM , Academia Sinica;
- To assess parents and siblings of ASD patients who were found to have ~500 kb CNVs in our previous study using clinical, psychopathological, and social measures for family study and also to conduct CNV analysis in the families to determine the origin of the CNVs;
- To conduct a follow-up assessments of clinical features, and social and neuropsychological functions of ASD probands with CNV to examine the phenotype changes over time;
- To study the clinical phenotypes between de novo and inherited groups to reveal the pathogenic CNVs;
- To conduct pathway analysis of genes involved in the CNVs, and to confirm the pathogenic genes by conducting gene expression analysis;
- To investigate the associations of clinical phenotypes such as autistic tendency, and social impairments between (1) probands with/without CNVs/controls, and (2) probands/unaffected siblings/controls.
Study design
- Observational model
- Other
- Time perspective
- Other
Who may qualify
- Ages
- 3 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Based on our preliminary CNV results of 339 probands, approximately 120 probands had been identified to have CNVs larger than 500kb. In the present project, the parents and siblings of the probands with CNVs larger than 500kb will be recruited (estimated sample size, parents = 200, siblings = 40) and reassess the ~120 probands.
Key inclusion criteria (5 listed)
- subjects have a clinical diagnosis of autistic disorder or Asperger disorder defined by the DSM-IV and ICD-10 criteria and ASD defined by the DSM-5, which was made by board-certificated child psychiatrists at the first visit and following visits;
- their ages range from 3 to 30;
- subjects have at least one biological parent;
- both parents are Han Chinese; and
- subjects and their biological parents consent to participate in this study for complete phenotype assessments and blood withdraw for genetic study.
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
Diagnosis of autism
Time frame: 1 day
Using the Autism Diagnostic Interview-Revised (ADI-R) to assess the developmental and behavioral aspects of autism, including reciprocal social interaction, communication, and repetitive behaviors and stereotyped patterns
1 secondary outcome
Diagnosis of psychiatric disorders
Time frame: 1 day
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 5 Sep 2021.
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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 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 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 5 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.
What does the primary outcome measure?
Diagnosis of autism (time frame: 1 day). 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 5 Sep 2021.