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

Sponsor
The First Hospital of Jilin University (Other)
Overall Status
Unknown status
CT.gov ID
NCT03587155
Collaborator
National Natural Science Foundation of China (Other)
10
Enrollment
1
Location
37.1
Anticipated Duration (Months)
0.3
Patients Per Site Per Month

Study Details

Study Description

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.

Condition or Disease Intervention/Treatment Phase

    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 Design

    Study Type:
    Observational
    Anticipated Enrollment :
    10 participants
    Observational Model:
    Case-Control
    Time Perspective:
    Prospective
    Official Title:
    Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
    Actual Study Start Date :
    Oct 28, 2017
    Anticipated Primary Completion Date :
    Dec 1, 2018
    Anticipated Study Completion Date :
    Dec 1, 2020

    Arms and Interventions

    Arm Intervention/Treatment
    Mutation

    Embryo or infant with ASNS mutation.
    Control

    Embryo or infant without ASNS mutation.

    Outcome Measures

    Primary Outcome Measures

    1. Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue [2018.06-2020.12]

      Detect RNA expression in prefrontal cortex cells by single cell RNA sequencing.

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    Yes
    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.

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Bo Chen Chang Chun Jilin China 130021

    Sponsors and Collaborators

    • The First Hospital of Jilin University
    • National Natural Science Foundation of China

    Investigators

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

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Bo Chen, Associate Chief Physician, The First Hospital of Jilin University
    ClinicalTrials.gov Identifier:
    NCT03587155
    Other Study ID Numbers:
    • ASNS-BRAIN001
    First Posted:
    Jul 16, 2018
    Last Update Posted:
    Jul 16, 2018
    Last Verified:
    Jul 1, 2018
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Keywords provided by Bo Chen, Associate Chief Physician, The First Hospital of Jilin University
    ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,
    Additional relevant MeSH terms:
    Genetic Diseases, Inborn

    Study Results

    No Results Posted as of Jul 16, 2018