Study on the Mechanism of Neurodevelopment Dysplasia of F... | NCT03587155

Studies
Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation

NCT03587155

Sponsor

The First Hospital of Jilin University

Status

Unknown status

Last Update Posted

Jul 16, 2018Actual

Enrollment

10Estimated

Phase

Not provided

Conditions

Asparagine Synthetase Deficiency
Genetic Diseases, Inborn

Interventions

Not provided

Countries

China

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

Jul 2018

Overall Recruitment Status or Expanded Access Status

Unknown status

Last Known Status

Recruiting

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Oct 28, 2017Actual

Primary Completion Date

Dec 2018Estimated

Completion Date

Dec 2020Estimated

First Submitted Date

Jul 3, 2018

First Submission Date that Met QC Criteria

Jul 3, 2018

First Posted Date

Jul 16, 2018Actual

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

Jul 3, 2018

Last Update Posted Date

Jul 16, 2018Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Bo Chen, Associate Chief Physician, The First Hospital of Jilin UniversityPrincipal Investigator

Lead Sponsor

The First Hospital of Jilin UniversityOTHER

Collaborators

Name	Class
National Natural Science Foundation of China	OTHER_GOV

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

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

The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

Detailed Description

Congenital microcephaly could cause by gene mutation. Asparagine synthetase deficiency, which is caused by ASNS mutation, is a rare autosomal recessive neurometabolic disorder. It is characterized by severe developmental delay, congenital microcephaly, seizures. The investigators found a family with ASNS mutaion. The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

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

10Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Mutation		Embryo or infant with ASNS mutation.
Control		Embryo or infant without ASNS mutation.

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue	Detect RNA expression in prefrontal cortex cells by single cell RNA sequencing.	2018.06-2020.12

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Mutation Group: Having ASNS gene mutation by DNA exon sequencing.
Control Group: No ASNS gene mutation by DNA exon sequencing.

Exclusion Criteria:

Mutation Group: N/A.
Control Group: Having other gene mutation which also effect neurodevelopment.

Accepts Healthy Volunteers

Yes

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

abortive embryo or infant.

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Bo Chen, M.D., Ph.D.	Contact	+86 15844023910		bchen223@jlu.edu.cn
Xinyu Hong, M.D., Ph.D.	Contact			3294051@qq.com

Overall Officials

Name	Affiliation	Role
Bo Chen, M.D., Ph.D.	The First Hospital of Jilin University	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Bo Chen	Recruiting	Changchun	Jilin	130021	China

Condition Browse Module

MeSH Terms

ID	Term
D030342	Genetic Diseases, Inborn

Ancestor Terms

ID	Term
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Browse Leaves

Not provided

Browse Branches

Not provided