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

July 3, 2018 updated by: Bo Chen, The First Hospital of Jilin University
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

Study Overview

Status

Unknown

Conditions

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.

Study Type

Observational

Enrollment (Anticipated)

10

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • China
    • Jilin
      • Chang Chun, Jilin, China, 130021

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

abortive embryo or infant.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Control
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Mutation
Embryo or infant with ASNS mutation.
Control
Embryo or infant without ASNS mutation.

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

The First Hospital of Jilin University

Collaborators

National Natural Science Foundation of China

Investigators

  • Principal Investigator: Bo Chen, M.D., Ph.D., The First Hospital of Jilin University

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 28, 2017

Primary Completion (Anticipated)

December 1, 2018

Study Completion (Anticipated)

December 1, 2020

Study Registration Dates

First Submitted

July 3, 2018

First Submitted That Met QC Criteria

July 3, 2018

First Posted (Actual)

July 16, 2018

Study Record Updates

Last Update Posted (Actual)

July 16, 2018

Last Update Submitted That Met QC Criteria

July 3, 2018

Last Verified

July 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • ASNS-BRAIN001

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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