---
title: Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
nct_id: NCT03587155
overall_status: UNKNOWN
sponsor: The First Hospital of Jilin University
study_type: OBSERVATIONAL
primary_condition: Asparagine Synthetase Deficiency
countries: China
canonical_url: "https://parkinsonspathways.com/agent/trials/NCT03587155.md"
clinicaltrials_gov: "https://clinicaltrials.gov/study/NCT03587155"
ct_last_update_post_date: 2018-07-16
last_seen_at: "2026-05-12T07:32:31.413Z"
source: ClinicalTrials.gov (mirrored, no enrichment)
---
# Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation

**NCT ID:** [NCT03587155](https://clinicaltrials.gov/study/NCT03587155)

## Key Facts

- **Status:** UNKNOWN
- **Study Type:** OBSERVATIONAL
- **Target Enrollment:** 10
- **Lead Sponsor:** The First Hospital of Jilin University
- **Collaborators:** National Natural Science Foundation of China
- **Conditions:** Asparagine Synthetase Deficiency, Genetic Diseases, Inborn
- **Start Date:** 2017-10-28
- **Completion Date:** 2020-12
- **CT.gov Last Update:** 2018-07-16

## 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.

## Eligibility

- **Sex:** ALL
- **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.
```

## Arms

- **Mutation** — Embryo or infant with ASNS mutation.
- **Control** — Embryo or infant without ASNS mutation.

## Primary Outcomes

- **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.

## Locations (1)

- Bo Chen, Changchun, Jilin, China — _RECRUITING_

## Recent Field Changes (last 30 days)

- `status.overallStatus` — added _(2026-05-12)_
- `status.primaryCompletionDate` — added _(2026-05-12)_
- `status.completionDate` — added _(2026-05-12)_
- `status.lastUpdatePostDate` — added _(2026-05-12)_
- `design.enrollmentCount` — added _(2026-05-12)_
- `eligibility.criteria` — added _(2026-05-12)_
- `eligibility.sex` — added _(2026-05-12)_
- `outcomes.primary` — added _(2026-05-12)_
- `armsInterventions.arms` — added _(2026-05-12)_
- `sponsor.lead` — added _(2026-05-12)_
- `sponsor.collaborators` — added _(2026-05-12)_
- `results.hasResults` — added _(2026-05-12)_
- `locations.bo chen|changchun|jilin|china` — added _(2026-05-12)_

---

*Canonical: https://parkinsonspathways.com/agent/trials/NCT03587155.md*  
*Source data (authoritative): https://clinicaltrials.gov/study/NCT03587155*  
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