Investigation of the HDAC4 Copy Number Variation and Its Effect on Gene and Protein Expression in Patients With ASD

NCT03670381 | Completed DMC

• 1 other identifier: 201608089RIN
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

Brief Summary

Specific Aims of this study:

1. 1.To understand the distribution of HDAC4 CNV in the families of the ASD patients with HDAC4 CNV;
2. 2.To perform the analysis of gene expression;
3. 3.To investigate the HDAC4 protein level expression;
4. 4.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.

Conditions

Autism Spectrum Disorder

Outcome Measures

Primary Outcomes (1)

• 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.

  5 days

Study Arms (2)

ASD group

ASD patients with HDAC4 CNVs

Other: Psychiatric diagnosis

TD group

Typically developing controls without lifetime ASD or a family history of ASD

Other: Psychiatric diagnosis

Interventions

Psychiatric diagnosis OTHER

ASD group; TD group

Eligibility Criteria

• Age: 7 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

30 ASD patients with HDAC4 CNVs and 5 healthy controls without any diagnosis of psychiatric disorders will be recruited.

You may qualify if:

• ASD group: Subjects who met the diagnostic criteria of either autistic disorder or Asperger's disorder defined by the DSM-IV criteria.

You may not qualify if:

• TD group: Subjects with any current or lifetime DSM-IV psychiatric disorders.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan Univeristy Hospital

Taipei, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

Ten mL of peripheral blood will be drawn for DNA and cell line preparation.

MeSH Terms

Conditions

Autism Spectrum Disorder

Condition Hierarchy (Ancestors)

Child Development Disorders, Pervasive; Neurodevelopmental Disorders; Mental Disorders

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 12, 2018
• First Posted: September 13, 2018
• Study Start: January 1, 2017
• Primary Completion: December 1, 2017
• Study Completion: December 1, 2017
• Last Updated: September 19, 2018

Record last verified: 2018-09

Locations

TW (1)