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

NCT ID: NCT03587155

Last Updated: 2018-07-16

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

10 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-10-28

Study Completion Date

2020-12-31

Brief Summary

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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

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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.

Conditions

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Asparagine Synthetase Deficiency Genetic Diseases, Inborn

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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Mutation

Embryo or infant with ASNS mutation.

No interventions assigned to this group

Control

Embryo or infant without ASNS mutation.

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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National Natural Science Foundation of China

OTHER_GOV

Sponsor Role collaborator

The First Hospital of Jilin University

OTHER

Sponsor Role lead

Responsible Party

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Bo Chen

Associate Chief Physician

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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

Role: PRINCIPAL_INVESTIGATOR

The First Hospital of Jilin University

Locations

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Bo Chen

Changchun, Jilin, China

Site Status RECRUITING

Countries

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China

Central Contacts

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

Role: CONTACT

+86 15844023910

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

Role: CONTACT

Facility Contacts

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

Role: primary

+8615844023910

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

Role: backup

Other Identifiers

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ASNS-BRAIN001

Identifier Type: -

Identifier Source: org_study_id

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