ASD-specific Induced Pluripotent Stem Cells for Disease Modeling

Completed

• Conditions: Autism Spectrum Disorder

• Registration Number: NCT02720939
• Lead Sponsor: National Taiwan University Hospital

Brief Summary

Specific Aims:

1. To generate induced-pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) isolated from whole blood of ASD probands and healthy controls.

2. To derive neural progenitor cells (NPCs) and neurons from iPSCs of ASD probands and healthy controls and compare differences between patients and healthy controls to investigate the cellular phenotype of ASD and uncover the pathophysiology of the disease.

Detailed Description

Autism spectrum disorders (ASDs) is a common, lifelong impairing childhood-onset neurodevelopmental disorder with clinical and genetic heterogeneity. The etiology of ASD is complicated and remains largely unknown. Evidences indicate the high heritability (54-77%) in ASD, and researchers also found copy number variations (CNVs) play an important role in the etiology of ASD. However, due to the ethical issue, researchers haven't had an appropriate platform to investigate the copy number change effect to date. In the following study, researchers are going to derive ASD-specific induced pluripotent stem cells and neurons for disease modeling.

10 ASD patients and 10 healthy controls will be included in the present study and iPSCs and neurons will be generated from their PBMCs. Electrophysiological recording and analysis of neuronal morphology will be conducted to reveal the cellular phenotype of ASD after comparing differences between patients and healthy controls.

The study will provide a platform to reveal the etiology of genetic basis and molecular mechanism of ASD. The cellular phenotype of ASD will be revealed by comparing differences between patients and healthy controls. The findings from this work are expected to contribute to the basic and clinical research on ASD.

Study Timeline

• Study Start: 2016-01-01
• Study First Submitted: 2016-03-22
• Study First Submitted QC: 2016-03-25
• Study First Posted: 2016-03-28
• Primary Completion: 2016-12-31
• Study Completion: 2016-12-31
• Status Verified: 2021-09
• Last Update Submitted: 2021-09-01
• Last Update Posted: 2021-09-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

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

Exclusion Criteria

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
iPSC derivation and characterization	12 weeks	To generate induced-pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) isolated from whole blood of ASD probands and healthy controls

Trial Locations

Locations (1)

National Taiwan Univeristy Hospital; 🇨🇳 Taipei, Taiwan