NewbornsNCT05476640
Newborn Sequencing Screening in China
An observational study of Newborns, run by Shanghai Children's Hospital at 1 site in China.
Trial summary
The project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases. Read more about this study
- Who is it for?
- Ages 1 day to 28 days
- Conditions the study is for
- Newborns
- What is being tested?
- NGS
- How many people
- 3,348 participants
- Where
- 1 siteChina
- Study dates
- 20 Sep 2022to 31 Jan 2024
- 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 day to 28 days
- All sexes
- Child
Study population: All newborns are our targeted population.
Who may be able to join
- -- Subjects: all newborns (from birth to 28 days);
- -- After fully understanding the program, the guardian signs the informed consent and agrees to participate in the program.
Who cannot join
- Other similar clinical research projects are under way for the examined neonates;
- Neonates have received transfusion of allogeneic blood products;
- Newborns whose guardians explicitly refuse to participate in the program after receiving the mission.
- Elimination criteria
- Samples that are not properly collected or stored for testing;
- Samples with non-standard data records;
- Samples without clinical follow-up results;
- The project recalls newborns who are required to withdraw by their guardians during the follow-up.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: The Application of Targeted Sequencing in the Screening of Neonatal Diseases
The project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases.
Read the detailed description
Neonatal screening (NBS) is the last step of birth defects prevention. Currently, biochemical and mass spectrometry are commonly used for NBS, but there are limited diseases and certain false positive/negative. High-throughput sequencing (NGS) has been widely used in prenatal diagnosis, tumor-targeted biomarkers detection and pathogen detection. Although the application of NGS in new screening has a broad prospect and many countries around the world have begun to explore it, there are still challenges in the selection of screening diseases, gene clinical phenotypes, genetic counseling and clinical pathway.
Since 2019, our team began to explore the appllication of NGS technologies in the clinical application of tertiary prevention, combined with Clinva, HGMD, OMIM database, on the basis of screening specific disease-causing genes and mutation sites as the target, A NGS panel for Newborns in China (NeoExome) was designed, covering 542 single-gene diseases with 601 genes. The rationality and validity of the NGS panel was preliminarily verified in 3423 neonatal blood samples collected from 5 new screening centers in China.
In order to further optimize the gene screening spectrum of neonatal diseases in the Chinese population, evaluate the efficacy of targeted sequencing technology in the screening and diagnosis of neonatal diseases, standardize the clinical pathway, and lay a foundation for the formulation of China's new screening NGS guidelines, the investigators further optimized the targeted sequencing package (NeoexOME-V2) on the basis of the first phase. 491 genes covering 485 single-gene genetic diseases were designed to launch the "Budding Action". The project plans to collect 10000 samples nationwide and carry out the multi-center clinical research on the application of targeted sequencing technology in the screening of neonatal diseases.
- Conditions
- Newborns
- Being tested
- NGS
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGSGenetic
In the Nation multicenter screening cohort, NGS testing was performed on the basis of conventional NBS to study the relationship between gene variation and disease occurrence;
| Study group | Role | What they receive |
|---|---|---|
| National multicenter screening | NGS was performed based on conventional NBS. The relationship between NGS detected gene variation and disease occurrence was studied through follow-up. Receives: Genetic: NGS |
What is being measured
The primary outcome is the main question the study is designed to answer.
Outcome measure
Kappa coefficient to evaluate the agreement strength. Positive Percent Agreement (PPA) and Negative Percent Agreement (NPA) calculated based on the 2x2 contingency table (True Positive, False Positive, False Negative, True Negative).
Measured: From enrollment to the end of test at 3 years
Secondary outcomes (1)
The consistency of test results of NGS and conventional NBS
Conventional NBS was used as the standard to study the application potential of targeted sequencing technology in neonatal screening and evaluate its consistency: ① Genetic variations in children with positive results from routine NBS screening: Genetic variation rate, genetic variations found in specific genes, population distribution characteristics, etc.; ② Application of gene sequencing technology in the diagnosis of diseases in infants and young children with positive results from routine newborn screening. 50% number of participants with consistency of test results.
physiological parameter: Kappa coefficient to evaluate the agreement strength. Positive Percent Agreement (PPA) and Negative Percent Agreement (NPA) calculated based on the 2x2 contingency table (True Positive, False Positive, False Negative, True Negative).
McNemar's test for discordant pairs analysis.
Measured: From enrollment to the end of testt at 8 weeks
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Jul 2022
- Study start20 Sep 2022
- Primary completion31 Jan 2024
- Study completion31 Jan 2024
Why it stopped: The sponsor is short of funds.
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NewbornsStudies 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 3,348 participants (actual)
Sponsor and investigators
- Lead sponsor
- Shanghai Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Xuzhou Maternity and Child Health Care Hospital, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, Inner Mongolia Maternal and Child Health Care Hospital
- Responsible party
- Sponsor
- Investigators
- Lin Zou, Principal investigator, Shanghai Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05476640
- Sponsor's protocol ID
- shercru-20220003
- Status last verified
- Jul 2024
- First submitted
- 19 Jul 2022
- Last updated
- 27 May 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 27 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Application of Targeted Sequencing in the Screening of Neonatal Diseases
- ClinicalTrials.gov ID
- NCT05476640
- Acronym / sponsor ID
- shercru-20220003
- Conditions
- Newborns
- Study type
- Observational
- Recruitment status
- TerminatedReason stopped: The sponsor is short of funds.
- Enrolment
- 3,348 participants (actual)
- Lead sponsor
- Shanghai Children's HospitalUniversity, hospital or other
- Collaborators
- Xuzhou Maternity and Child Health Care Hospital, Northwest Women's and Children's Hospital, Xi'an, Shaanxi, Inner Mongolia Maternal and Child Health Care Hospital
- Study start
- 20 Sep 2022 (actual)
- Primary completion
- 31 Jan 2024 (actual)
- Study completion
- 31 Jan 2024 (actual)
- First posted
- 27 Jul 2022 (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 project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases.
Detailed description
Neonatal screening (NBS) is the last step of birth defects prevention. Currently, biochemical and mass spectrometry are commonly used for NBS, but there are limited diseases and certain false positive/negative. High-throughput sequencing (NGS) has been widely used in prenatal diagnosis, tumor-targeted biomarkers detection and pathogen detection. Although the application of NGS in new screening has a broad prospect and many countries around the world have begun to explore it, there are still challenges in the selection of screening diseases, gene clinical phenotypes, genetic counseling and clinical pathway.
Since 2019, our team began to explore the appllication of NGS technologies in the clinical application of tertiary prevention, combined with Clinva, HGMD, OMIM database, on the basis of screening specific disease-causing genes and mutation sites as the target, A NGS panel for Newborns in China (NeoExome) was designed, covering 542 single-gene diseases with 601 genes. The rationality and validity of the NGS panel was preliminarily verified in 3423 neonatal blood samples collected from 5 new screening centers in China.
In order to further optimize the gene screening spectrum of neonatal diseases in the Chinese population, evaluate the efficacy of targeted sequencing technology in the screening and diagnosis of neonatal diseases, standardize the clinical pathway, and lay a foundation for the formulation of China's new screening NGS guidelines, the investigators further optimized the targeted sequencing package (NeoexOME-V2) on the basis of the first phase. 491 genes covering 485 single-gene genetic diseases were designed to launch the "Budding Action". The project plans to collect 10000 samples nationwide and carry out the multi-center clinical research on the application of targeted sequencing technology in the screening of neonatal diseases.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| National multicenter screening | – | Genetic: NGSNGS was performed based on conventional NBS. The relationship between NGS detected gene variation and disease occurrence was studied through follow-up. |
Who may qualify
- Ages
- 1 day to 28 days
- Sex
- All
- Age groups
- Child
- Study population
- All newborns are our targeted population.
Key inclusion criteria (2 listed)
- -- Subjects: all newborns (from birth to 28 days);
- -- After fully understanding the program, the guardian signs the informed consent and agrees to participate in the program.
Key exclusion criteria (8 listed)
- Other similar clinical research projects are under way for the examined neonates;
- Neonates have received transfusion of allogeneic blood products;
- Newborns whose guardians explicitly refuse to participate in the program after receiving the mission.
- Elimination criteria
- Samples that are not properly collected or stored for testing;
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 |
|---|---|---|
| NGSIn the Nation multicenter screening cohort, NGS testing was performed on the basis of conventional NBS to study the relationship between gene variation and disease occurrence; | Genetic | National multicenter screening |
Primary outcome
Outcome measure
Time frame: From enrollment to the end of test at 3 years
Kappa coefficient to evaluate the agreement strength. Positive Percent Agreement (PPA) and Negative Percent Agreement (NPA) calculated based on the 2x2 contingency table (True Positive, False Positive, False Negative, True Negative).
1 secondary outcome
The consistency of test results of NGS and conventional NBS
Time frame: From enrollment to the end of testt at 8 weeks
Results and safety
The study was stopped early (reason given: The sponsor is short of funds.). Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 May 2026.
- Individual participant dataSharing planned: Undecided
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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 principal investigator
Shanghai Children's Hospital
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 Newborns, run by Shanghai Children's Hospital 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 8 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: stopped early, as of the sponsor's last update on 27 May 2026. 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 was stopped early (reason given: The sponsor is short of funds.). Results are not available in the source record.
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?
Outcome measure (time frame: From enrollment to the end of test at 3 years). 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 27 May 2026.