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Deciphering the Autism Spectrum Disorder Beyond Genomics

NCT03676673 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 200

Last updated 2022-09-26

No results posted yet for this study

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

Interventions

OTHER

Psychiatric diagnosis

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

Sponsors & Collaborators

  • National Taiwan University Hospital

    lead OTHER

Eligibility

Min Age
3 Years
Max Age
20 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-08-01
Primary Completion
2021-12-31
Completion
2021-12-31

Countries

  • Taiwan

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03676673 on ClinicalTrials.gov