NICU InfantsNCT05476055
NGS in the Diagnosis of Neonatal Diseases
An observational study of NICU Infants and Conventional NBS-positive Infants, run by Shanghai Children's Hospital.
Trial summary
To investigate the application of NGS in neonatal disease screening and diagnosis, two studies was conducted (the other ID is: shercru-20220003). This study is to evaluate the application of NGS in the diagnosis of neonatal disease. Read more about this study
- Who is it for?
- Ages 1 day to 1 year
- Conditions the study is for
- NICU Infants, Conventional NBS-positive Infants, Premature Infants
- What is being tested?
- NGS
- How many people
- 1,800 participants
- Where
- No sites listed yet
- Study dates
- Aug 2022to Dec 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 1 year
- All sexes
- No healthy volunteers
- Child
Study population: In the cohort of conventional NBS+/ NICU/ premature infants, the corresponding targeted population was included in the study and analysis.
Who may be able to join
- Subjects: conventional NBS+ infants NICU infants premature infants
- 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.
Trial locations and contacts
No sites are listed yet.
About this study
Official title: The Application of Targeted Sequencing in the Diagnosis of Neonatal Diseases
To investigate the application of NGS in neonatal disease screening and diagnosis, two studies was conducted (the other ID is: shercru-20220003). This study is to evaluate the application of NGS in the diagnosis of neonatal disease.
Read the detailed description
As health care has improved, genetic diseases have become the leading cause of infant death in hospitalized neonatal. However, due to extensive clinical and genetic heterogeneity, differential diagnosis of all known genetic disorders is often a challenging and lengthy process. Current clinical potential genetic diagnosis of ill baby often undergo repeated consulting, several times repeated invasive testing and/or metabolic examination, and efficiency is not high, which lead to children's and family's heavy mental pressure and economic burden.
Targeted sequencing, also known as next Generation sequence (NGS), has the advantages of fast sequencing, wide sequencing range, high sensitivity, high accuracy and low cost compared with traditional sequencing technology (Sanger sequencing). NGS has been widely used in tumor diseases, prenatal screening, drugs and the diagnosis of various genetic diseases. In prenatal screening, targeted sequencing is gradually used to detect free fetal DNA in pregnant women's peripheral blood, with an accuracy of 95%, which is much better than traditional amniocentesis karyotype analysis and improves the detection rate of secondary birth defects. Compared with traditional methods, NGS can provide diagnosis and classification, rich genetic disease gene spectrum, accurate direction for treatment, as well as the predict the risk of the next generation of children of the same disease. Therefore, targeted sequencing technology has great advantages for the diagnosis of children and prevention of newborn birth defect diseases.
To evaluate the efficacy of NGS in the screening and diagnosis of neonatal disease, the investigator lauched the "Budding Action". This study is to evaluate the application of NGS in the diagnosis of neonatal disease.
- Being tested
- NGS
- Medical subject headings
- Premature Birth
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NGSGenetic
In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children
| Study group | Role | What they receive |
|---|---|---|
| conventional NBS+ infants | Disease diagnosis is carried out using conventional diagnosis and treatment methods. | |
| conventional NBS+ infants (NGS) | Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. Receives: Genetic: NGS | |
| NICU infants | Disease diagnosis is carried out using conventional diagnosis and treatment methods. | |
| NICU infants (NGS) | Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. Receives: Genetic: NGS | |
| Premature infants | Disease diagnosis is carried out using conventional diagnosis and treatment methods. | |
| Premature infants (NGS) | Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. Receives: Genetic: NGS |
What is being measured
The primary outcome is the main question the study is designed to answer.
Diagnostic time
In each cohort, NGS was conducted to investigate whether NGS can shorten the diagnostic time.
Measured: up to 6 months
Prognosis (mortality)
In each cohort, NGS was conducted to investigate whether NGS can reduce the mortality of children.
Measured: up to 1 year
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 startAug 2022 (estimated)
- Primary completionAug 2024 (estimated)
- Study completionDec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for NICU InfantsStudies 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
- 1,800 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Shanghai Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Children's Hospital of Chongqing Medical University, Xuzhou Maternity and Child Health Care Hospital
- Responsible party
- Sponsor
- Investigators
- Lin Zou, Principal investigator, Shanghai Children's Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05476055
- Sponsor's protocol ID
- shercru-20220003-1
- Status last verified
- Jul 2022
- First submitted
- 25 Jul 2022
- Last updated
- 27 Jul 2022
- 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 Jul 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Application of Targeted Sequencing in the Diagnosis of Neonatal Diseases
- ClinicalTrials.gov ID
- NCT05476055
- Acronym / sponsor ID
- shercru-20220003-1
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 1,800 participants (estimated)
- Lead sponsor
- Shanghai Children's HospitalUniversity, hospital or other
- Collaborators
- Children's Hospital of Chongqing Medical University, Xuzhou Maternity and Child Health Care Hospital
- Study start
- Aug 2022 (estimated)
- Primary completion
- Aug 2024 (estimated)
- Study completion
- Dec 2024 (estimated)
- 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.
To investigate the application of NGS in neonatal disease screening and diagnosis, two studies was conducted (the other ID is: shercru-20220003). This study is to evaluate the application of NGS in the diagnosis of neonatal disease.
Detailed description
As health care has improved, genetic diseases have become the leading cause of infant death in hospitalized neonatal. However, due to extensive clinical and genetic heterogeneity, differential diagnosis of all known genetic disorders is often a challenging and lengthy process. Current clinical potential genetic diagnosis of ill baby often undergo repeated consulting, several times repeated invasive testing and/or metabolic examination, and efficiency is not high, which lead to children's and family's heavy mental pressure and economic burden.
Targeted sequencing, also known as next Generation sequence (NGS), has the advantages of fast sequencing, wide sequencing range, high sensitivity, high accuracy and low cost compared with traditional sequencing technology (Sanger sequencing). NGS has been widely used in tumor diseases, prenatal screening, drugs and the diagnosis of various genetic diseases. In prenatal screening, targeted sequencing is gradually used to detect free fetal DNA in pregnant women's peripheral blood, with an accuracy of 95%, which is much better than traditional amniocentesis karyotype analysis and improves the detection rate of secondary birth defects. Compared with traditional methods, NGS can provide diagnosis and classification, rich genetic disease gene spectrum, accurate direction for treatment, as well as the predict the risk of the next generation of children of the same disease. Therefore, targeted sequencing technology has great advantages for the diagnosis of children and prevention of newborn birth defect diseases.
To evaluate the efficacy of NGS in the screening and diagnosis of neonatal disease, the investigator lauched the "Budding Action". This study is to evaluate the application of NGS in the diagnosis of neonatal disease.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 6
| Arm | Type | Receives |
|---|---|---|
| conventional NBS+ infants | – | –Disease diagnosis is carried out using conventional diagnosis and treatment methods. |
| conventional NBS+ infants (NGS) | – | Genetic: NGSDisease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. |
| NICU infants | – | –Disease diagnosis is carried out using conventional diagnosis and treatment methods. |
| NICU infants (NGS) | – | Genetic: NGSDisease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. |
| Premature infants | – | –Disease diagnosis is carried out using conventional diagnosis and treatment methods. |
| Premature infants (NGS) | – | Genetic: NGSDisease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS. |
Who may qualify
- Ages
- 1 day to 1 year
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- In the cohort of conventional NBS+/ NICU/ premature infants, the corresponding targeted population was included in the study and analysis.
Key inclusion criteria (2 listed)
- Subjects: conventional NBS+ infants NICU infants premature infants
- After fully understanding the program, the guardian signs the informed consent and agrees to participate in the program.
Key exclusion criteria (3 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.
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 conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children | Genetic | NICU infants (NGS), Premature infants (NGS), conventional NBS+ infants (NGS) |
Primary outcome
Diagnostic time
Time frame: up to 6 months
In each cohort, NGS was conducted to investigate whether NGS can shorten the diagnostic time.
Prognosis (mortality)
Time frame: up to 1 year
In each cohort, NGS was conducted to investigate whether NGS can reduce the mortality of children.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Jul 2022.
- 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
Questions about this trial
What is this clinical trial studying?
An observational study of NICU Infants and Conventional NBS-positive Infants, run by Shanghai Children's Hospital.
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: status not confirmed, as of the sponsor's last update on 27 Jul 2022. Status can change between updates, so confirm with the study contact before making plans.
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 Lin Zou (18623121280, zoulin@shchildren.com.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Diagnostic time (time frame: up to 6 months). The study lists 2 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 27 Jul 2022.