Neonatal HyperbilirubinemiaEMOGVONHBNCT06186349
The Effect and Mechanism of Gene Variation on Neonatal Hyperbilirubinemia
An observational study of Neonatal Hyperbilirubinemia, run by Sixth Affiliated Hospital, Sun Yat-sen University at 1 site in China.
Trial summary
Neonatal hyperbilirubinemia ( NHB ) has many causes and is difficult to diagnose, and genetic factors play an important role in the metabolism of bilirubin. However, there is no literature report on the correlation between jaundice gene polymorphism and clinical manifestation polymorphism in big data population. Read more about this study
- Who is it for?
- Ages 1 day to 28 days
- Conditions the study is for
- Neonatal Hyperbilirubinemia
- What is being tested?
- Genomic sequencing
- How many people
- 2,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Sep 2023to 31 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 28 days
- All sexes
- Child
Study population: This study is a prospective observational study. According to the positive mutation rate of NHB-related genes in neonatal hyperbilirubinemia, P is about 30 %, the test level α = 0.05 and the allowable error δ = 2 %, n ( sample size ) = ( Uα / δ ) 2 * p * ( 1-P ) ≈ 2000 cases. A total of 2000 neonates were included, including 500 cases of non-significant hyperbilirubinemia ( TSB / TCB < 205umol / L ) ; ( 2 ) 500 cases of significant hyperbilirubinemia ( 205umol / L ≤ TSB / TCB < 342umol / L ) ; ( 3 ) 500 cases of severe hyperbilirubinemia ( TSB / TCB ≥ 342umol / L ) ; (4) Extremely severe hyperbilirubinemia 500 cases ( TSB / TCB ≥ 428umol / L ).
Who may be able to join
- Age 1-28 days
- gestational age ≥ 35 weeks
- Birth weight ≥ 2.5 kg and < 4 kg.
Who cannot join
- Neonatal data with unclear clinical basic information ;
- Lack of traceability core information data ;
- data that the test results cannot be analyzed and interpreted ;
- Sample collection is not qualified and unwilling to cooperate with re-sampling.
- Newborns with severe deformity and severe lethal inherited metabolic diseases
Trial locations and contacts
1 site in 1 country.
China1 site, 1 recruiting
- Recruiting
The Sixth Affiliated Hospital, Sun Yat-sen University
Guangzhou, Guangdong, 510655
Hu Hao, 86-020-38777850, haohu@mail.sysu.edu.cn
About this study
Neonatal hyperbilirubinemia ( NHB ) has many causes and is difficult to diagnose, and genetic factors play an important role in the metabolism of bilirubin. However, there is no literature report on the correlation between jaundice gene polymorphism and clinical manifestation polymorphism in big data population. This project intends to conduct a prospective observational study led by the Department of Pediatrics of the Sixth Affiliated Hospital of Sun Yat-sen University and in conjunction with a multi-center cooperative hospital : ( 1 ) A total of 2,000 NHB neonatal dry blood spot samples were included for 24 genetic screening tests for 29 NHB-related genetic diseases. The construction of the gene database was completed and the carrying and pathogenicity of NHB-related genes in the population was analyzed to provide a scientific basis for the selection of mutation sites for large-scale NHB gene screening ; ( 2 ) Collect neonatal clinical data and percutaneous bilirubin levels through the hospital inpatient system and the ' percutaneous jaundice meter home monitoring + software doctor-patient interconnection ' method, complete the construction of the intelligent NHB clinical database, and analyze the impact of jaundice-related genes on NHB ; ( 3 ) Integrated analysis to understand the differences in the carrying rate of pathogenic genes in different degrees and special types of jaundice, and to explore the differences in the degree of jaundice carrying single or multiple jaundice pathogenic genes. This study will evaluate the feasibility of jaundice gene screening program in the detection of jaundice-related inherited metabolic diseases, and provide a basis for early treatment and prevention of NHB.
Read the detailed description
Adverse reactions: In this study, only 3 drops of neonatal heel peripheral blood were collected for genetic analysis and statistical analysis of percutaneous jaundice values. No human trials were involved. Family members were willing to know the genetic test results and the genetic test results were positive. Family members may have a certain psychological burden. We will provide free professional genetic counseling, as detailed as possible to inform the hazards of this genetic defect, treatment and other related information to help. Psychiatrists can be arranged for free psychological counseling if necessary.
Ethical approval: This clinical study follows the Helsinki Declaration ( 2013 edition ), the ethical principles of human medical research and the relevant clinical research norms and regulations in China.
This clinical study was approved by the Research Ethics Committee / Institutional Review Boards ( REC/IRBs ).
This clinical study is an observational clinical study initiated by researchers. The clinical research protocol ( including informed consent and case report forms, etc. ) and other information provided to the family members or guardians of the newborn were reviewed and approved by the ethics committee of the clinical research team leader unit and the participating units.
Informed consent: Before the start of the clinical study, the researchers completely and comprehensively introduced the purpose, process, method, and the interests and risks of the newborn to the parents or legal representatives who met the inclusion criteria. A written informed consent form was given to each parent or guardian of the newborn before enrollment, so that he / she had sufficient time to consider whether to consent to the collection of neonatal information to participate in this clinical study. After obtaining the informed consent of each newborn 's parent or legal representative and signing the informed consent form, researchers can begin to collect relevant data.
Privacy protection: All members of the research team, including the primary researchers and their authorized researchers, must comply with all local and regional regulatory requirements and applicable privacy regulations.
Each newborn participating in this study will be assigned a unique number and an institutional identifier.
All research data will be stored in a confidential electronic system and stored for at least 3 years after the completion of the study.
The coding table for recording neonatal information and research will be kept by the researcher (PI) in a locked file cabinet or in a password-protected database. Only researchers and their authorized researchers have the right to access the coding table.
The coding table that records the name of the hospital and the institution identification number will be saved by the research team in a locked file cabinet, which is only limited to access by limited research members. The identity of each subject of observation should be kept confidential in research reports and related publications.
- Conditions
- Neonatal Hyperbilirubinemia
- Being tested
- Genomic sequencing
- Medical subject headings
- Hyperbilirubinemia, Neonatal
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genomic sequencingGenetic
Newborns with neonatal hyperbilirubinemia who did not randomly receive genome sequencing will receive a Genomic Newborn Sequencing Report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.
| Study group | Role | What they receive |
|---|---|---|
| non-significant hyperbilirubinemia | including 500 cases of non-significant hyperbilirubinemia ( TSB / TCB < 205umol / L ) Receives: Genetic: Genomic sequencing | |
| significant hyperbilirubinemia | 500 cases of significant hyperbilirubinemia ( 205umol / L ≤ TSB / TCB < 342umol / L ) Receives: Genetic: Genomic sequencing | |
| severe hyperbilirubinemia | 500 cases of severe hyperbilirubinemia ( TSB / TCB ≥ 342umol / L ) Receives: Genetic: Genomic sequencing | |
| Extremely severe hyperbilirubinemia | 500 cases ( TSB / TCB ≥ 428umol / L ) Receives: Genetic: Genomic sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Number of gene sequencing data in neonatal gene bank
Each newborn that was sequenced was counted as 1. Keep all the data in the gene bank, and finally calculate the number of completed gene sequencing data.
Measured: From birth to completion of genetic screening, the process last up to 3 months.
Gene mutation rate
Taking the number of newborn babies as denominator and the number of neonates with gene mutation detected in gene sequencing as molecules, the whole neonatal gene mutation rate in China was obtained.
Measured: From birth to completion of genetic screening, the process last up to 3 months.
carrying rate of pathogenic genes
the carrying rate of pathogenic genes of common hereditary jaundice diseases in newborns was counted
Measured: From birth to completion of genetic screening, the process last up to 3 months.
phenotypic polymorphism
analyze the correlation between gene polymorphism and clinical manifestations ( phenotypic polymorphism ) of neonatal hyperbilirubinemia.
Measured: From birth to completion of genetic screening, the process last up to 3 months.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Jan 2024
- Study start1 Sep 2023
- Primary completion31 Dec 2024 (estimated)
- Study completion31 Dec 2024 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (4)Papers the sponsor has linked to this study.
- Other trials for Neonatal HyperbilirubinemiaStudies of the same condition, open and under way.
- More trials run by Sixth Affiliated Hospital, Sun Yat-sen 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 2,000 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, HaoHu, Sixth Affiliated Hospital, Sun Yat-sen University
- Investigators
- Hu Hao, Study director, Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06186349
- Sponsor's protocol ID
- EMGVNHB
- Acronym
- EMOGVONHB
- Status last verified
- Dec 2023
- First submitted
- 13 Dec 2023
- Last updated
- 2 Jan 2024
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Wu J, Lu AD, Zhang LP, Zuo YX, Jia YP. [Study of clinical outcome and prognosis in pediatric core binding factor-acute myeloid leukemia]. Zhonghua Xue Ye Xue Za Zhi. 2019 Jan 14;40(1):52-57. doi: 10.3760/cma.j.issn.0253-2727.2019.01.010. Chinese.
PubMed 30704229Olusanya BO, Kaplan M, Hansen TWR. Neonatal hyperbilirubinaemia: a global perspective. Lancet Child Adolesc Health. 2018 Aug;2(8):610-620. doi: 10.1016/S2352-4642(18)30139-1. Epub 2018 Jun 28.
PubMed 30119720Watchko JF, Lin Z. Exploring the genetic architecture of neonatal hyperbilirubinemia. Semin Fetal Neonatal Med. 2010 Jun;15(3):169-75. doi: 10.1016/j.siny.2009.11.003. Epub 2009 Dec 21.
PubMed 20022574Yang H, Wang Q, Zheng L, Zheng XB, Lin M, Zhan XF, Yang LY. Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia. Pediatr Neonatol. 2016 Aug;57(4):310-7. doi: 10.1016/j.pedneo.2015.08.008. Epub 2015 Dec 2.
PubMed 26727668
Study at a glance
From the registry record, last updated by the sponsor on 2 Jan 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Effect and Mechanism of Gene Variation on Neonatal Hyperbilirubinemia
- ClinicalTrials.gov ID
- NCT06186349
- Acronym / sponsor ID
- EMOGVONHB / EMGVNHB
- Conditions
- Neonatal Hyperbilirubinemia
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 2,000 participants (estimated)
- Lead sponsor
- Sixth Affiliated Hospital, Sun Yat-sen UniversityUniversity, hospital or other
- Study start
- 1 Sep 2023 (actual)
- Primary completion
- 31 Dec 2024 (estimated)
- Study completion
- 31 Dec 2024 (estimated)
- First posted
- 2 Jan 2024 (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.
Neonatal hyperbilirubinemia ( NHB ) has many causes and is difficult to diagnose, and genetic factors play an important role in the metabolism of bilirubin. However, there is no literature report on the correlation between jaundice gene polymorphism and clinical manifestation polymorphism in big data population. This project intends to conduct a prospective observational study led by the Department of Pediatrics of the Sixth Affiliated Hospital of Sun Yat-sen University and in conjunction with a multi-center cooperative hospital : ( 1 ) A total of 2,000 NHB neonatal dry blood spot samples were included for 24 genetic screening tests for 29 NHB-related genetic diseases. The construction of the gene database was completed and the carrying and pathogenicity of NHB-related genes in the population was analyzed to provide a scientific basis for the selection of mutation sites for large-scale NHB gene screening ; ( 2 ) Collect neonatal clinical data and percutaneous bilirubin levels through the hospital inpatient system and the ' percutaneous jaundice meter home monitoring + software doctor-patient interconnection ' method, complete the construction of the intelligent NHB clinical database, and analyze the impact of jaundice-related genes on NHB ; ( 3 ) Integrated analysis to understand the differences in the carrying rate of pathogenic genes in different degrees and special types of jaundice, and to explore the differences in the degree of jaundice carrying single or multiple jaundice pathogenic genes. This study will evaluate the feasibility of jaundice gene screening program in the detection of jaundice-related inherited metabolic diseases, and provide a basis for early treatment and prevention of NHB.
Detailed description
Adverse reactions: In this study, only 3 drops of neonatal heel peripheral blood were collected for genetic analysis and statistical analysis of percutaneous jaundice values. No human trials were involved. Family members were willing to know the genetic test results and the genetic test results were positive. Family members may have a certain psychological burden. We will provide free professional genetic counseling, as detailed as possible to inform the hazards of this genetic defect, treatment and other related information to help. Psychiatrists can be arranged for free psychological counseling if necessary.
Ethical approval: This clinical study follows the Helsinki Declaration ( 2013 edition ), the ethical principles of human medical research and the relevant clinical research norms and regulations in China.
This clinical study was approved by the Research Ethics Committee / Institutional Review Boards ( REC/IRBs ).
This clinical study is an observational clinical study initiated by researchers. The clinical research protocol ( including informed consent and case report forms, etc. ) and other information provided to the family members or guardians of the newborn were reviewed and approved by the ethics committee of the clinical research team leader unit and the participating units.
Informed consent: Before the start of the clinical study, the researchers completely and comprehensively introduced the purpose, process, method, and the interests and risks of the newborn to the parents or legal representatives who met the inclusion criteria. A written informed consent form was given to each parent or guardian of the newborn before enrollment, so that he / she had sufficient time to consider whether to consent to the collection of neonatal information to participate in this clinical study. After obtaining the informed consent of each newborn 's parent or legal representative and signing the informed consent form, researchers can begin to collect relevant data.
Privacy protection: All members of the research team, including the primary researchers and their authorized researchers, must comply with all local and regional regulatory requirements and applicable privacy regulations.
Each newborn participating in this study will be assigned a unique number and an institutional identifier.
All research data will be stored in a confidential electronic system and stored for at least 3 years after the completion of the study.
The coding table for recording neonatal information and research will be kept by the researcher (PI) in a locked file cabinet or in a password-protected database. Only researchers and their authorized researchers have the right to access the coding table.
The coding table that records the name of the hospital and the institution identification number will be saved by the research team in a locked file cabinet, which is only limited to access by limited research members. The identity of each subject of observation should be kept confidential in research reports and related publications.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| non-significant hyperbilirubinemia | – | Genetic: Genomic sequencingincluding 500 cases of non-significant hyperbilirubinemia ( TSB / TCB < 205umol / L ) |
| significant hyperbilirubinemia | – | Genetic: Genomic sequencing500 cases of significant hyperbilirubinemia ( 205umol / L ≤ TSB / TCB < 342umol / L ) |
| severe hyperbilirubinemia | – | Genetic: Genomic sequencing500 cases of severe hyperbilirubinemia ( TSB / TCB ≥ 342umol / L ) |
| Extremely severe hyperbilirubinemia | – | Genetic: Genomic sequencing500 cases ( TSB / TCB ≥ 428umol / L ) |
Who may qualify
- Ages
- 1 day to 28 days
- Sex
- All
- Age groups
- Child
- Study population
- This study is a prospective observational study. According to the positive mutation rate of NHB-related genes in neonatal hyperbilirubinemia, P is about 30 %, the test level α = 0.05 and the allowable error δ = 2 %, n ( sample size ) = ( Uα / δ ) 2 * p * ( 1-P ) ≈ 2000 cases. A total of 2000 neonates were included, including 500 cases of non-significant hyperbilirubinemia ( TSB / TCB < 205umol / L ) ; ( 2 ) 500 cases of significant hyperbilirubinemia ( 205umol / L ≤ TSB / TCB < 342umol / L ) ; ( 3 ) 500 cases of severe hyperbilirubinemia ( TSB / TCB ≥ 342umol / L ) ; (4) Extremely severe hyperbilirubinemia 500 cases ( TSB / TCB ≥ 428umol / L ).
Key inclusion criteria (3 listed)
- Age 1-28 days
- gestational age ≥ 35 weeks
- Birth weight ≥ 2.5 kg and < 4 kg.
Key exclusion criteria (5 listed)
- Neonatal data with unclear clinical basic information ;
- Lack of traceability core information data ;
- data that the test results cannot be analyzed and interpreted ;
- Sample collection is not qualified and unwilling to cooperate with re-sampling.
- Newborns with severe deformity and severe lethal inherited metabolic diseases
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 |
|---|---|---|
| Genomic sequencingNewborns with neonatal hyperbilirubinemia who did not randomly receive genome sequencing will receive a Genomic Newborn Sequencing Report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease. | Genetic | Extremely severe hyperbilirubinemia, non-significant hyperbilirubinemia, severe hyperbilirubinemia, significant hyperbilirubinemia |
Primary outcome
Number of gene sequencing data in neonatal gene bank
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
Each newborn that was sequenced was counted as 1. Keep all the data in the gene bank, and finally calculate the number of completed gene sequencing data.
Gene mutation rate
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
Taking the number of newborn babies as denominator and the number of neonates with gene mutation detected in gene sequencing as molecules, the whole neonatal gene mutation rate in China was obtained.
carrying rate of pathogenic genes
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
the carrying rate of pathogenic genes of common hereditary jaundice diseases in newborns was counted
phenotypic polymorphism
Time frame: From birth to completion of genetic screening, the process last up to 3 months.
analyze the correlation between gene polymorphism and clinical manifestations ( phenotypic polymorphism ) of neonatal hyperbilirubinemia.
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Jan 2024.
- Results publication: PubMed 30704229Wu J, Lu AD, Zhang LP, Zuo YX, Jia YP. [Study of clinical outcome and prognosis in pediatric core binding factor-acute myeloid leukemia]. Zhonghua Xue Ye Xue Za Zhi. 2019 Jan 14;40(1):52-57. doi: 10.3760/cma.j.issn.0253-2727.2019.01.010. Chinese.
- Results publication: PubMed 30119720Olusanya BO, Kaplan M, Hansen TWR. Neonatal hyperbilirubinaemia: a global perspective. Lancet Child Adolesc Health. 2018 Aug;2(8):610-620. doi: 10.1016/S2352-4642(18)30139-1. Epub 2018 Jun 28.
- Results publication: PubMed 20022574Watchko JF, Lin Z. Exploring the genetic architecture of neonatal hyperbilirubinemia. Semin Fetal Neonatal Med. 2010 Jun;15(3):169-75. doi: 10.1016/j.siny.2009.11.003. Epub 2009 Dec 21.
- Results publication: PubMed 26727668Yang H, Wang Q, Zheng L, Zheng XB, Lin M, Zhan XF, Yang LY. Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia. Pediatr Neonatol. 2016 Aug;57(4):310-7. doi: 10.1016/j.pedneo.2015.08.008. Epub 2015 Dec 2.
- Individual participant dataSharing planned: No
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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.
Hu Hao study director
Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China
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 Neonatal Hyperbilirubinemia, run by Sixth Affiliated Hospital, Sun Yat-sen 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 3 inclusion and 5 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 2 Jan 2024. 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 Hu Hao (86-020-38777850, haohu@mail.sysu.edu.cn), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Number of gene sequencing data in neonatal gene bank (time frame: From birth to completion of genetic screening, the process last up to 3 months.). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06186349, which also lists 4 linked publications.
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 2 Jan 2024.