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

• Conditions: Asparagine Synthetase Deficiency; Genetic Diseases, Inborn

• Registration Number: NCT03587155
• Lead Sponsor: The 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.

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 Timeline

• Study Start: 2017-10-28
• Status Verified: 2018-07
• Study First Submitted: 2018-07-03
• Study First Submitted QC: 2018-07-03
• Last Update Submitted: 2018-07-03
• Study First Posted: 2018-07-16
• Last Update Posted: 2018-07-16
• Primary Completion: 2018-12
• Study Completion: 2020-12

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 10

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

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.

Trial Locations

Locations (1)

Bo Chen; 🇨🇳 Chang Chun, Jilin, China