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NCT03587155 Clinical Trial

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

Genetic Diseases, Inborn Clinical Trial

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

Clinical Trial Details — Status: Recruiting

Administrative data
NCT number NCT03587155
Other study ID # ASNS-BRAIN001
Secondary ID
Status Recruiting
Phase
First received
Last updated
Start date October 28, 2017
Est. completion date December 2020

Study information
Verified date July 2018
Source First Hospital of Jilin University
Contact Bo Chen, M.D., Ph.D.
Phone +86 15844023910
Email bchen223@jlu.edu.cn
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.

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.

Recruitment information / eligibility
Status Recruiting
Enrollment 10
Est. completion date December 2020
Est. primary completion date December 2018
Accepts healthy volunteers Accepts Healthy Volunteers
Gender All
Age group N/A and older
Eligibility 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 Design

Related Conditions & MeSH terms

Locations
Country Name City State
China Bo Chen Chang Chun Jilin

Sponsors (2)
Lead Sponsor Collaborator
First Hospital of Jilin University National Natural Science Foundation of China

Country where clinical trial is conducted

China, 

Outcome
Type Measure Description Time frame Safety issue
Primary 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
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