NCT03587155

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.

Trial Health

43
At Risk

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Trial has exceeded expected completion date
Enrollment
10

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Oct 2017

Typical duration for all trials

Geographic Reach
1 country

1 active site

Status
unknown

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

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Study Timeline

Key milestones and dates

Study Start

First participant enrolled

October 28, 2017

Completed
8 months until next milestone

First Submitted

Initial submission to the registry

July 3, 2018

Completed
13 days until next milestone

First Posted

Study publicly available on registry

July 16, 2018

Completed
5 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 1, 2018

Completed
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 1, 2020

Completed
Last Updated

July 16, 2018

Status Verified

July 1, 2018

Enrollment Period

1.1 years

First QC Date

July 3, 2018

Last Update Submit

July 3, 2018

Conditions

Asparagine Synthetase DeficiencyGenetic Diseases, Inborn

Keywords

ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,

Outcome Measures

Primary Outcomes (1)

  • 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

Study Arms (2)

Mutation

Embryo or infant with ASNS mutation.

Control

Embryo or infant without ASNS mutation.

Eligibility Criteria

Sexall
Healthy VolunteersYes
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

abortive embryo or infant.

You may qualify if:

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

You may not qualify if:

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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Bo Chen

Changchun, Jilin, 130021, China

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Extract DNA from brain tissue or peripheral blood.

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Bo Chen, M.D., Ph.D.

    The First Hospital of Jilin University

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Bo Chen, M.D., Ph.D.

CONTACT

+86 15844023910bchen223@jlu.edu.cn

Xinyu Hong, M.D., Ph.D.

CONTACT

3294051@qq.com

Study Design

Study Type
observational
Observational Model
CASE CONTROL
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Associate Chief Physician

Study Record Dates

First Submitted

July 3, 2018

First Posted

July 16, 2018

Study Start

October 28, 2017

Primary Completion

December 1, 2018

Study Completion

December 1, 2020

Last Updated

July 16, 2018

Record last verified: 2018-07

Locations

CN(1)