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Trial record 3 of 9018 for:    Genetic Diseases, Inborn AND Genetic Diseases, Inborn

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

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ClinicalTrials.gov Identifier: NCT03587155
Recruitment Status : Recruiting
First Posted : July 16, 2018
Last Update Posted : July 16, 2018
Sponsor:
Collaborator:
National Natural Science Foundation of China
Information provided by (Responsible Party):
Bo Chen, First Hospital of Jilin University

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
Asparagine Synthetase Deficiency Genetic Diseases, Inborn

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.

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Study Type : Observational
Estimated 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 : October 28, 2017
Estimated Primary Completion Date : December 2018
Estimated Study Completion Date : December 2020

Resource links provided by the National Library of Medicine

Drug Information available for: Asparagine

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



Primary Outcome Measures :
  1. 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.


Biospecimen Retention:   Samples With DNA
Extract DNA from brain tissue or peripheral blood.


Information from the National Library of Medicine

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
abortive embryo or infant.
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03587155


Contacts
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Contact: Bo Chen, M.D., Ph.D. +86 15844023910 bchen223@jlu.edu.cn
Contact: Xinyu Hong, M.D., Ph.D. 3294051@qq.com

Locations
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China, Jilin
Bo Chen Recruiting
Chang Chun, Jilin, China, 130021
Contact: Bo Chen, M.D., Ph.D.    +8615844023910    bchen223@jlu.edu.cn   
Contact: Xinyu Hong, M.D., Ph.D.       3294051@qq.com   
Sponsors and Collaborators
First Hospital of Jilin University
National Natural Science Foundation of China
Investigators
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Principal Investigator: Bo Chen, M.D., Ph.D. First Hospital of Jilin University

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Responsible Party: Bo Chen, Associate Chief Physician, First Hospital of Jilin University
ClinicalTrials.gov Identifier: NCT03587155     History of Changes
Other Study ID Numbers: ASNS-BRAIN001
First Posted: July 16, 2018    Key Record Dates
Last Update Posted: July 16, 2018
Last Verified: July 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by Bo Chen, First Hospital of Jilin University:
ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,
Additional relevant MeSH terms:
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Genetic Diseases, Inborn