ASD-specific Induced Pluripotent Stem Cells for Disease M... | NCT02720939

Studies
ASD-specific Induced Pluripotent Stem Cells for Disease Modeling

NCT02720939

Sponsor

National Taiwan University Hospital

Status

Completed

Last Update Posted

Sep 2, 2021Actual

Enrollment

20Actual

Phase

Not provided

Conditions

Autism Spectrum Disorder

Interventions

Not provided

Countries

Taiwan

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Sep 2021

Overall Recruitment Status or Expanded Access Status

Completed

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Jan 1, 2016Actual

Primary Completion Date

Dec 31, 2016Actual

Completion Date

Dec 31, 2016Actual

First Submitted Date

Mar 22, 2016

First Submission Date that Met QC Criteria

Mar 25, 2016

First Posted Date

Mar 28, 2016Estimated

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Sep 1, 2021

Last Update Posted Date

Sep 2, 2021Actual

Oversight Module

Has Data Monitoring Committee (DMC)

Yes

Is FDA Regulated Drug

Not provided

Is FDA Regulated Device

Not provided

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

Specific Aims:

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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

20Actual

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
ASD group		ASD patients who met the diagnostic criteria of either autistic disorder or Asperger's disorder defined by the DSM-IV criteria
TD group		Typically development controls without lifetime diagnosis with ASD or any psychiatric disorders

Interventions

Not provided

Outcomes Module

Primary Outcomes

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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

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.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

The sample will consist of 10 ASD patients and 10 healthy controls.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Susan Shur-Fen Gau, MD, PhD	National Taiwan University Hospital & College of Medicine	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
National Taiwan Univeristy Hospital		Taipei			Taiwan

Condition Browse Module

MeSH Terms

ID	Term
D000067877	Autism Spectrum Disorder

Ancestor Terms

ID	Term
D002659	Child Development Disorders, Pervasive
D065886	Neurodevelopmental Disorders
D001523	Mental Disorders

Browse Leaves

Not provided

Browse Branches

Not provided

Description

Peripheral blood will be collected in the INSEPACK Disposable Vacuum Venous Blood Specimen collection Tube (Green Tube with li-Heparin) and each tube will contain 5-10ml of blood from ASD probands and healthy controls.