Autism Spectrum DisorderNCT03670381
Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD
An observational study of Autism Spectrum Disorder, run by National Taiwan University Hospital at 1 site in Taiwan.
Trial summary
Specific Aims of this study: 1. To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV; 2. To perform the analysis of gene expression; 3. To investigate the HDAC4 protein level expression; 4. Read more about this study
- Who is it for?
- Ages 7 years and olderHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder
- What is being tested?
- Psychiatric diagnosis
- How many people
- 35 participants
- Where
- 1 siteTaiwan
- Study dates
- Jan 2017to Dec 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 7 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 30 ASD patients with HDAC4 CNVs and 5 healthy controls without any diagnosis of psychiatric disorders will be recruited.
Who may be able to join
- ASD group: Subjects who met the diagnostic criteria of either autistic disorder or Asperger's disorder defined by the DSM-IV criteria.
Who cannot join
- TD group: Subjects with any current or lifetime DSM-IV psychiatric disorders.
Trial locations and contacts
1 site in 1 country.
About this study
Specific Aims of this study:
- To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV;
- To perform the analysis of gene expression;
- To investigate the HDAC4 protein level expression;
- To investigate the correlation of clinical/cognitive features with HDAC4 CNV, RNA and protein expression in ASD patients, and compare with their unaffected family members.
Read the detailed description
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder affecting up to 1/50 in the world and 1% in Taiwan. ASD is a clinically and genetically heterogeneous complex disorder with high heritability. Due to its high prevalence, lifetime impairment and no effective prevention and treatment, ASD has been prioritized for molecular genetic study. Among the genetic findings based on our copy number variation (CNV) analysis of 335 patients with ASD, HDAC4 gene is selected to help us understand the pathogenesis of ASD by investigating parent-of-origin and the gene and protein expression of this gene, alongside neurocognitive and behavioral phenotypes.
Based on our findings on HDAC4 CNV analysis, the patients with HDAC4 CNVs (~30 patients) and their families will be invited to participate the investigation of the CNV, RNA and protein expression analysis. Five healthy controls without any diagnosis of psychiatric disorders will be recruited to perform the comparison with ASD patients with HDSC4. The autistic symptoms and behavioral phenotypes assessed by the Chinese SCQ and SRS, and the cognitive function assessed by intelligence test and WCST will be used to reveal the associations among the CNVs, RNA expression, protein level and clinical/cognitive phenotypes.
According to our previous CNV findings at the HDAC4 locus, we expect to find CNV in HDAC4 variation in another independent sample of our ASD cohort and to explore how HDAC4 CNVs affect the RNA and protein expression of HDAC4. We anticipate our endeavors will provide the comprehensive profiles of the CNV, RNA and protein expressions and the clinical features of ASD patients with HDAC4 CNVs and contribute to our understanding of the pathogenesis of ASD.
- 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
| Study group | Role | What they receive |
|---|---|---|
| ASD group | ASD patients with HDAC4 CNVs Receives: Other: Psychiatric diagnosis | |
| TD group | Typically developing controls without lifetime ASD or a family history of ASD Receives: Other: Psychiatric diagnosis |
What is being measured
The primary outcome is the main question the study is designed to answer.
Copy number variation (CNV) analysis
Using SYBR-Green based real-time qPCR (Applied Biosystems, Forster, CA) to detect the CNVs encompassing HDAC4 gene in participants.
Measured: 5 days
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Sep 2018
- Study startJan 2017
- Primary completionDec 2017
- Study completionDec 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
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 35 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
- NCT03670381
- Sponsor's protocol ID
- 201608089RIN
- Status last verified
- Sep 2018
- First submitted
- 12 Sep 2018
- Last updated
- 19 Sep 2018
- 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 19 Sep 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD
- ClinicalTrials.gov ID
- NCT03670381
- Acronym / sponsor ID
- 201608089RIN
- Conditions
- Autism Spectrum Disorder
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 35 participants (actual)
- Lead sponsor
- National Taiwan University HospitalUniversity, hospital or other
- Study start
- Jan 2017 (actual)
- Primary completion
- Dec 2017 (actual)
- Study completion
- Dec 2017 (actual)
- First posted
- 13 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.
Specific Aims of this study:
- To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV;
- To perform the analysis of gene expression;
- To investigate the HDAC4 protein level expression;
- To investigate the correlation of clinical/cognitive features with HDAC4 CNV, RNA and protein expression in ASD patients, and compare with their unaffected family members.
Detailed description
Autism spectrum disorder (ASD) is a common neurodevelopmental disorder affecting up to 1/50 in the world and 1% in Taiwan. ASD is a clinically and genetically heterogeneous complex disorder with high heritability. Due to its high prevalence, lifetime impairment and no effective prevention and treatment, ASD has been prioritized for molecular genetic study. Among the genetic findings based on our copy number variation (CNV) analysis of 335 patients with ASD, HDAC4 gene is selected to help us understand the pathogenesis of ASD by investigating parent-of-origin and the gene and protein expression of this gene, alongside neurocognitive and behavioral phenotypes.
Based on our findings on HDAC4 CNV analysis, the patients with HDAC4 CNVs (~30 patients) and their families will be invited to participate the investigation of the CNV, RNA and protein expression analysis. Five healthy controls without any diagnosis of psychiatric disorders will be recruited to perform the comparison with ASD patients with HDSC4. The autistic symptoms and behavioral phenotypes assessed by the Chinese SCQ and SRS, and the cognitive function assessed by intelligence test and WCST will be used to reveal the associations among the CNVs, RNA expression, protein level and clinical/cognitive phenotypes.
According to our previous CNV findings at the HDAC4 locus, we expect to find CNV in HDAC4 variation in another independent sample of our ASD cohort and to explore how HDAC4 CNVs affect the RNA and protein expression of HDAC4. We anticipate our endeavors will provide the comprehensive profiles of the CNV, RNA and protein expressions and the clinical features of ASD patients with HDAC4 CNVs and contribute to our understanding of the pathogenesis of ASD.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| ASD group | – | Other: Psychiatric diagnosisASD patients with HDAC4 CNVs |
| TD group | – | Other: Psychiatric diagnosisTypically developing controls without lifetime ASD or a family history of ASD |
Who may qualify
- Ages
- 7 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 30 ASD patients with HDAC4 CNVs and 5 healthy controls without any diagnosis of psychiatric disorders will be recruited.
Key inclusion criteria (1 listed)
- ASD group: Subjects who met the diagnostic criteria of either autistic disorder or Asperger's disorder defined by the DSM-IV criteria.
Key exclusion criteria (1 listed)
- TD group: Subjects with any current or lifetime DSM-IV psychiatric disorders.
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 diagnosis | Other | ASD group, TD group |
Primary outcome
Copy number variation (CNV) analysis
Time frame: 5 days
Using SYBR-Green based real-time qPCR (Applied Biosystems, Forster, CA) to detect the CNVs encompassing HDAC4 gene in participants.
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 19 Sep 2018.
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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 1 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 19 Sep 2018. 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?
Copy number variation (CNV) analysis (time frame: 5 days). 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 19 Sep 2018.