Ignite Creation Date:
2024-05-06 @ 12:06 PM
Last Modification Date:
2024-10-26 @ 12:54 PM
Study NCT ID:
NCT03670381
Status:
COMPLETED
Last Update Posted:
2018-09-19
First Post:
2018-09-12
Brief Title:
Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD
Sponsor:
National Taiwan University Hospital
Organization:
National Taiwan University Hospital
Study Overview
Official Title:
Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD
Status:
COMPLETED
Status Verified Date:
2018-09
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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 To investigate the correlation of clinicalcognitive features with HDAC4 CNV RNA and protein expression in ASD patients and compare with their unaffected family members
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 To investigate the correlation of clinicalcognitive 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 150 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 clinicalcognitive 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
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 clinicalcognitive 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 Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None