ASD-specific Induced Pluripotent Stem Cells for Disease Modeling
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|ClinicalTrials.gov Identifier: NCT02720939|
Recruitment Status : Unknown
Verified March 2016 by National Taiwan University Hospital.
Recruitment status was: Recruiting
First Posted : March 28, 2016
Last Update Posted : March 28, 2016
- To generate induced-pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) isolated from whole blood of ASD probands and healthy controls.
- 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.
|Condition or disease|
|Autism Spectrum Disorder|
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 Type :||Observational|
|Estimated Enrollment :||20 participants|
|Observational Model:||Case Control|
|Official Title:||ASD-specific Induced Pluripotent Stem Cells for Disease Modeling|
|Study Start Date :||January 2016|
|Estimated Primary Completion Date :||December 2016|
ASD patients who met the diagnostic criteria of either autistic disorder or Asperger's disorder defined by the DSM-IV criteria
Typically development controls without lifetime diagnosis with ASD or any psychiatric disorders
- iPSC derivation and characterization [ Time Frame: 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
Biospecimen Retention: Samples With DNA
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02720939
|Contact: Susan Shur-Fen Gau, MD, PhD||886-2-23123456 ext firstname.lastname@example.org|
|National Taiwan Univeristy Hospital||Recruiting|
|Contact: Susan Shur-Fen Gau, MD, PhD 886-2-23123456 ext 66802 email@example.com|
|Principal Investigator: Wei-Chih Kao, MD|
|Principal Investigator:||Susan Shur-Fen Gau, MD, PhD||National Taiwan University Hospital & College of Medicine|