Birth DefectNCT03984266
The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects
An observational study of Birth Defect and Newborn; Fit, run by Children's Hospital of Chongqing Medical University at 1 site in China.
Trial summary
In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. Read more about this study
- Who is it for?
- Ages 1 minute to 28 days
- Conditions the study is for
- Birth Defect, Newborn; Fit, Genetic Diseases
- What is being tested?
- NGS panel
- How many people
- 3,423 participants
- Where
- 1 siteChina
- Study dates
- 1 Oct 2019to 31 Dec 2021
- 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 1 minute to 28 days
- All sexes
- No healthy volunteers
- Child
Study population: Neonates in one of the study hospitals
Who may be able to join
- Neonates in one of the study hospitals
- Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease
Who cannot join
- Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other)
- Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood
- Parents refuse consent
Trial locations and contacts
1 site in 1 country.
China1 site
Children's Hospital of Chongqing Medical University
Chongqing, 400014
About this study
Official title: The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns
In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.
- Conditions
- Birth Defect, Newborn; Fit, Genetic Diseases, Multiple Malformation, Congenital Malformation
- Being tested
- NGS panel
- Medical subject headings
- Congenital Abnormalities, Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGS panelDiagnostic test
A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.
What is being measured
The primary outcome is the main question the study is designed to answer.
Mortality
Incidence of death
Measured: At corrected age of 18 months
Disability Rate
Incidence of disability. Disability defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.
Measured: At corrected age of 18 months
Allele Frequency
Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage.
Measured: In 120 days after receipt of all the patients' sequencing data
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Jun 2019
- Study start1 Oct 2019
- Primary completion31 Dec 2021
- Study completion31 Dec 2021
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Birth DefectStudies of the same condition, open and under way.
- 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
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 3,423 participants (actual)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Chongqing Medical University
- Sponsor type
- University, hospital or other
- Collaborators
- Northwest Women's and Children's Hospital, Xi'an, Shaanxi, Maternal and Child Health Hospital of Hubei Province, The First Hospital of Jilin University, Xuzhou Maternity and Child Health Care Hospital
- Responsible party
- Principal investigator, Xia Yunqiu, Children's Hospital of Chongqing Medical University
- Investigators
- Lin Zou, Ph.D, Study chair, Children's Hospital of Chongqing Medical University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03984266
- Sponsor's protocol ID
- CHCMU-CCMM-01
- Status last verified
- Apr 2022
- First submitted
- 7 Jun 2019
- Last updated
- 12 Apr 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 12 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns
- ClinicalTrials.gov ID
- NCT03984266
- Acronym / sponsor ID
- CHCMU-CCMM-01
- Conditions
- Birth Defect, Newborn; Fit, Genetic Diseases, Multiple Malformation, Congenital Malformation
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 3,423 participants (actual)
- Lead sponsor
- Children's Hospital of Chongqing Medical UniversityUniversity, hospital or other
- Collaborators
- Northwest Women's and Children's Hospital, Xi'an, Shaanxi, Maternal and Child Health Hospital of Hubei Province, The First Hospital of Jilin University, Xuzhou Maternity and Child Health Care Hospital
- Study start
- 1 Oct 2019 (actual)
- Primary completion
- 31 Dec 2021 (actual)
- Study completion
- 31 Dec 2021 (actual)
- First posted
- 12 Jun 2019 (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.
In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.
Study design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 1 minute to 28 days
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Neonates in one of the study hospitals
Key inclusion criteria (2 listed)
- Neonates in one of the study hospitals
- Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease
Key exclusion criteria (3 listed)
- Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other)
- Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood
- Parents refuse consent
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NGS panelA next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns. | Diagnostic test | – |
Primary outcome
Mortality
Time frame: At corrected age of 18 months
Incidence of death
Disability Rate
Time frame: At corrected age of 18 months
Incidence of disability. Disability defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.
Allele Frequency
Time frame: In 120 days after receipt of all the patients' sequencing data
Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 12 Apr 2022.
- Individual participant dataSharing planned: Yes
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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.
Lin Zou, Ph.D study chair
Children's Hospital of Chongqing Medical 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 Birth Defect and Newborn; Fit, run by Children's Hospital of Chongqing Medical 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 3 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: finished, as of the sponsor's last update on 12 Apr 2022. 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?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Mortality (time frame: At corrected age of 18 months). The study lists 3 primary outcomes in all. 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 12 Apr 2022.