Deciphering the Autism Spectrum Disorder Beyond Genomics

NCT03676673 | Completed DMC

• 1 other identifier: 201801044RINC
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 1

Brief Summary

The investigators propose to study the molecular etiology of autism spectrum disorder(ASD) from a genomic, metabolomics and network biology perspective by combining data of gene expression, sequence variations and metabolism conditions of patients with ASD. As the complexity of ASD, the investigators consider both science-based and clinic-based measurements to ensure no missing of any relevant domain of the complex relations. In addition to the collection of biological factors, the investigators will also collect the comprehensive clinical, environmental, neurocognitive, MRI images to integrate the multiple factors into the matrix features. Finally the investigators will apply the machine learning to provide us the aspects of the underline pathway back into the other sample distribution published as the open dataset to verify and adjust the features in order to achieve satisfactory level of the reliability and stability of the algorithms. With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles. The results will be using real-time PCR (qPCR) or conventional Sanger sequencing to verified. The investigators will use both liquid chromatography/time-of-flight mass spectrometry (LC-MS) and gas chromatography/quadrupole mass spectrometry (GC-MS) for a full assessment of a wide range of metabolites with over 820 metabolites. Hence, this 3-year proposal consists two main parts - the ASD transcriptome sequence analysis by NGS technology and the metabolomics study of ASD via LC-MS and GC-MS technology.

Conditions

Autism Spectrum Disorder

Outcome Measures

Primary Outcomes (1)

• ASD-associated transcriptome profiles

  With Next Generation Sequencing (NGS) technology, the investigators will sequence the whole exome sequencing (WES) (MiSeq System) of approximately 120 ASD probands, 40 unaffecting siblings and 40 healthy controls of Taiwanese Han population to identify ASD-associated transcriptome profiles.

  Baseline

Study Arms (3)

ASD group

120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria

Other: Psychiatric diagnosis

Unaffected siblings of ASD

40 unaffected siblings of ASD probands

Other: Psychiatric diagnosis

TD group

40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5

Other: Psychiatric diagnosis

Interventions

Psychiatric diagnosis OTHER

Kiddie Schedule for Affective Disorders \& Schizophrenia (K-SADS) for DSM-5

ASD group; TD group; Unaffected siblings of ASD

Eligibility Criteria

• Age: 3 Years - 20 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

This study will recruit (1) 120 patients with clinical diagnosis of ASD according to the DSM-5 diagnostic criteria for the transcriptome NGS and the metabolites profiles from the Children's Mental Health Center at National Taiwan University Hospital (NTUH); (2) 40 unaffected siblings (SIB) of ASD probands; and (3) 40 healthy age/gender-matched TD controls according to age and neighborhood distribution of the ASD group after interviewed by the Chinese K-SADS-E-DSM-5.

You may qualify if:

• a clinical diagnosis of ASD defined by the DSM-5 made by board-certificated child psychiatrists at the first visit and following visits
• ages range from 3 to 20
• at least one biological parent
• parents that are both Taiwanese
• subjects and their biological parents consent to participate in this study for complete phenotype assessments and blood withdraw for this study.

You may not qualify if:

• schizophrenia
• schizoaffective disorder
• organic psychosis.
• Probands with fragile X, intellectual disability, epilepsy, ADHD, and autoimmune diseases will be noted.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan Univeristy Hospital

Taipei, Taiwan

Location

Biospecimen

Retention: SAMPLES WITH DNA

20 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 17, 2018
• First Posted: September 19, 2018
• Study Start: August 1, 2018
• Primary Completion: December 31, 2021
• Study Completion: December 31, 2021
• Last Updated: September 26, 2022

Record last verified: 2022-09

Locations

TW (1)