NCT03676673

Deciphering the Autism Spectrum Disorder Beyond Genomics

Completed Last updated 26 September 2022

What this trial tests

trial testing Psychiatric diagnosis in Autism Spectrum Disorder in 200 participants. Completed in 31 December 2021.

Timeline

1 August 2018

Primary endpoint
31 December 2021

31 December 2021

Quick facts

Lead sponsor	National Taiwan University Hospital
Status	Completed
Study type	OBSERVATIONAL
Enrollment	200
Start date	1 August 2018
Primary completion	31 December 2021
Estimated completion	31 December 2021
Sites	1 location across Taiwan

Drugs / interventions tested

• Psychiatric diagnosis

Conditions studied

• Autism Spectrum Disorder — all drugs for Autism Spectrum Disorder →

Sponsor

National Taiwan University Hospital

Who can join

Adults 3 to 20, any sex, with Autism Spectrum Disorder. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

No peer-reviewed publications indexed yet for this trial. Completed trials usually publish results within 12-18 months.