Asparagine Synthetase DeficiencyNCT03587155
Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
An observational study of Asparagine Synthetase Deficiency and Genetic Diseases, Inborn, run by The First Hospital of Jilin University at 1 site in China.
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. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Asparagine Synthetase Deficiency, Genetic Diseases, Inborn
- How many people
- 10 participants
- Where
- 1 siteChina
- Study dates
- 28 Oct 2017to Dec 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: abortive embryo or infant.
Who may be able to join
- Mutation Group: Having ASNS gene mutation by DNA exon sequencing.
- Control Group: No ASNS gene mutation by DNA exon sequencing.
Who cannot join
- Mutation Group: N/A.
- Control Group: Having other gene mutation which also effect neurodevelopment.
Trial locations and contacts
1 site in 1 country.
Xinyu Hong, M.D., Ph.D. contact
China1 site, 1 recruiting
- Recruiting
Bo Chen
Changchun, Jilin, 130021
Bo Chen, M.D., Ph.D., +8615844023910, bchen223@jlu.edu.cn
Xinyu Hong, M.D., Ph.D., 3294051@qq.com
About this study
The investigators propose to analyze a brain sample and/or peripheral blood by single cell RNA seq from aborted embryos with ASNS mutation.
Read the 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.
- Keywords
- ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mutation | Embryo or infant with ASNS mutation. | |
| Control | Embryo or infant without ASNS mutation. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 2018.06-2020.12
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Jul 2018
- Study start28 Oct 2017
- Primary completionDec 2018 (estimated)
- Study completionDec 2020 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Asparagine Synthetase DeficiencyStudies of the same condition, open and under way.
- More trials run by The First Hospital of Jilin UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 10 participants (estimated)
Sponsor and investigators
- Lead sponsor
- The First Hospital of Jilin University
- Sponsor type
- University, hospital or other
- Collaborators
- National Natural Science Foundation of China
- Responsible party
- Principal investigator, Bo Chen, The First Hospital of Jilin University
- Investigators
- Bo Chen, M.D., Ph.D., Principal investigator, The First Hospital of Jilin University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03587155
- Sponsor's protocol ID
- ASNS-BRAIN001
- Status last verified
- Jul 2018
- First submitted
- 3 Jul 2018
- Last updated
- 16 Jul 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 16 Jul 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Study on the Mechanism of Neurodevelopment Dysplasia of Fetal Brain Caused by ASNS Gene Mutation
- ClinicalTrials.gov ID
- NCT03587155
- Acronym / sponsor ID
- ASNS-BRAIN001
- Keywords
- ASNS, single cell RNA seq, Neurodevelopmental Dysplasia,
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 10 participants (estimated)
- Lead sponsor
- The First Hospital of Jilin UniversityUniversity, hospital or other
- Collaborators
- National Natural Science Foundation of China
- Study start
- 28 Oct 2017 (actual)
- Primary completion
- Dec 2018 (estimated)
- Study completion
- Dec 2020 (estimated)
- First posted
- 16 Jul 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Mutation | – | –Embryo or infant with ASNS mutation. |
| Control | – | –Embryo or infant without ASNS mutation. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- abortive embryo or infant.
Key inclusion criteria (2 listed)
- Mutation Group: Having ASNS gene mutation by DNA exon sequencing.
- Control Group: No ASNS gene mutation by DNA exon sequencing.
Key exclusion criteria (2 listed)
- Mutation Group: N/A.
- Control Group: Having other gene mutation which also effect neurodevelopment.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 16 Jul 2018.
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Trisomy 13 Syndrome, Arthrogryposis Congenita Multiplex With Intestinal Atresia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Xinyu Hong, M.D., Ph.D. contact
Bo Chen, M.D., Ph.D. principal investigator
The First Hospital of Jilin University
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Asparagine Synthetase Deficiency and Genetic Diseases, Inborn, run by The First Hospital of Jilin University at 1 site in China.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: status not confirmed, as of the sponsor's last update on 16 Jul 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in China. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Bo Chen, M.D., Ph.D. (+86 15844023910, bchen223@jlu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Effect of ASNS gene mutation on RNA expression in prefrontal cortex cells of brain tissue (time frame: 2018.06-2020.12). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 16 Jul 2018.