Hereditary DiseasesMAOFGAMDNGDNCT06183138
Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
An observational study of Hereditary Diseases, run by Sixth Affiliated Hospital, Sun Yat-sen University at 1 site in China.
Trial summary
object name: Multicenter analysis of genomic and metabolic data of neonatal genetic diseases. goal of study:(1) Gene sequencing data (138 genes related to 133 common genetic diseases) and tandem mass spectrometry metabolomics data (11 amino acids and 28 acylcarnitines) of about 40,000 newborns from the South China… Read more about this study
- Who is it for?
- Ages 1 day to 28 daysHealthy volunteers can take part
- Conditions the study is for
- Hereditary Diseases
- What is being tested?
- Genomic sequencing
- How many people
- 40,000 participants
- Where
- 1 siteChina
- Study dates
- 1 Sep 2022to 31 Dec 2025
- 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
- Healthy volunteers accepted
- Child
Study population: The subjects were all from all the member organizations participating in the South China Neonatal Genetic Screening Alliance. They were hospitalized in the neonatal department of each member hospital.
Who may be able to join
- Age 1-28 days
- gestational age 37-42 weeks
Who cannot join
- Neonatal data with unclear clinical basic information
- Lack of traceability core information data
- The data that the test results cannot be analyzed and interpreted
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
object name: Multicenter analysis of genomic and metabolic data of neonatal genetic diseases.
goal of study:(1) Gene sequencing data (138 genes related to 133 common genetic diseases) and tandem mass spectrometry metabolomics data (11 amino acids and 28 acylcarnitines) of about 40,000 newborns from the South China Neonatal Genetic Screening Alliance participating units were collected and collated to complete the database construction of genes and mass spectrometry.
Read more
(2) Explore the use of genome and metabolome big data and machine learning algorithms such as Random forest, Support Vector Machine, Elastic net, Multilayer Perceptron to construct prediction models for common genetic diseases, and strive to achieve accurate diagnosis and prediction of common genetic diseases using simple tandem mass spectrometry metabolome data, and expand the application range of tandem mass spectrometry technology for disease detection.
research design:retrospective observational study Research period:September 2022 to December 2025 Participating units:South China Neonatal genetic screening Alliance (including cooperation units of 123 hospitals) research object:Gene screening data of 40,000 newborns ( 138 genes related to 133 common genetic diseases ) and tandem mass spectrometry data ( 11 amino acids and 28 acylcarnitines ).
Inclusion criteria:( 1 ) Newborns who underwent genetic screening and tandem mass spectrometry at the same time. ( 2 ) Age : 0-28 days, gestational age 37-42 weeks.
Excluded criteria:Data that meets any of the following conditions need to be eliminated : ( 1 ) Neonatal data with unclear clinical basic information ; ( 2 ) Lack of traceability core information data ; ( 3 ) The data that the test results cannot be analyzed and interpreted.
data collection:( 1 ) Basic information : gender, age, sample type, subject traceability number / ID number, etc. ( 2 ) Clinical symptoms, biochemical and imaging data of positive samples. ( 3 ) Gene detection results and tandem mass spectrometry results. ( 4 ) Date of test data, instrument model, reagent type, etc.
Read the detailed description
Research Design: This study is a multi-center cooperative study of the South China Neonatal Genetic Screening Alliance. The principal investigator ( PI ) and project leader of this study are Hao Hu, chief physician of pediatrics of the Sixth Affiliated Hospital of Sun Yat-sen University, who plans to include 123 cooperative units of the South China Neonatal Genetic Screening Alliance. In this study, 40,000 neonatal genetic screening data and MS / MS data were retrospectively analyzed through multi-center cooperation. The collection date was from January 2019 to August 2022.
Through the statistical analysis of neonatal genetic screening data ( 138 genes related to 133 common genetic diseases ), the incidence of common genetic diseases in newborns in China, the carrying rate of pathogenic variation and the high-frequency variation sites of the population were clarified, and the epidemiological characteristics of newborns in China were studied.
Through the statistical analysis of neonatal genetic screening data and MS / MS metabolomics data ( 11 amino acids and 28 acylcarnitines ), the correlation between gene and metabolism will be explored, and the pathogenicity of high-frequency VUS mutation sites will be identified by using protein function artificial intelligence analysis platform and tandem mass spectrometry metabolite data.
The prediction model of common genetic diseases is constructed by using machine learning algorithms such as random forest, support vector machine, elastic network and multi-layer perceptron, so as to realize the accurate diagnosis of common genetic diseases through tandem mass spectrometry metabolomics data, and expand 2-3 kinds of diseases that can be detected by MS / MS technology.
Sample size: This study plans to collect genetic screening data ( 138 genes related to 133 common genetic diseases ) and tandem mass spectrometry metabolomics data ( 11 amino acids and 28 acylcarnitines ) of about 40,000 newborns from January 2019 to August 2022 in 123 cooperative units of the South China Neonatal Genetic Screening Alliance.
Data source: The gene sequencing data and MS / MS metabolic data of 40,000 newborns were from 123 cooperative units of the South China Neonatal Gene Screening Alliance.In this study, the data table established by Microsoft Excel was used. The neonatal gene data and tandem mass spectrometry of the multi-center cooperative units were transmitted through the Excel data table. Effective measures will be taken to strictly record, clean and check the data. Multi-centers ensure the authenticity, accuracy and completeness of the neonatal gene sequencing data and MS / MS metabolic data provided, and all data and test reports can be traced. In addition, the data management, pay attention to the confidentiality of the data, to ensure the privacy of patients and their families.
Informed consent: This study is a retrospective study. Subjects have signed informed consent from parents or guardians when doing neonatal MS / MS metabolic disease screening or genetic screening. The informed consent form clearly states that the test data can be used for scientific research after removing personal privacy information. Therefore, the application for exemption from informed consent.
Benefits of participating in research: There is no direct economic benefit for all the test subjects included in this study, but for the positive children included in this study, free first-generation sequencing verification is provided, and professional genetic counseling and clinical treatment advice are provided to parents by pediatric clinicians with the consent of the parents of the children.
Privacy protection measures: All the data of the subjects during the study period will be entered into the computer for confidential storage and analysis. If necessary, the relevant institutions may review the records to confirm the authenticity, accuracy and integrity of the data. The data obtained from the study may also be published in academic journals, but the names of the subjects will not be published, and the privacy of the subjects will be kept confidential.
All selected populations do not involve special populations, and patient privacy information is strictly protected.
- Conditions
- Hereditary Diseases
- Being tested
- Genomic sequencing
- Keywords
- neonatal genetic diseases, Defect, Newborn
- 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.
Genomic sequencingGenetic
Both sick and high-risk newborn un-randomized to receive genomic 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 |
|---|---|---|
| Sick Neonatal Cohort | Infants and their parents enrolled through Neonatal Intensive Care Unit of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby\'s medical history/physical exam, and the results of the genomic sequencing report. 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.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted27 Dec 2023
- Study start1 Sep 2022
- Primary completion31 Dec 2025 (estimated)
- Study completion31 Dec 2025 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (8)Papers the sponsor has linked to this study.
- Other trials for Hereditary DiseasesStudies 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
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 40,000 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
- NCT06183138
- Sponsor's protocol ID
- SCNGSA
- Acronym
- MAOFGAMDNGD
- 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
Wang Q, Xiang J, Sun J, Yang Y, Guan J, Wang D, Song C, Guo L, Wang H, Chen Y, Leng J, Wang X, Zhang J, Han B, Zou J, Yan C, Zhao L, Luo H, Han Y, Yuan W, Zhang H, Wang W, Wang J, Yang H, Xu X, Yin Y, Morton CC, Zhao L, Zhu S, Shen J, Peng Z. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. Genet Med. 2019 Oct;21(10):2231-2238. doi: 10.1038/s41436-019-0481-6. Epub 2019 Mar 20.
PubMed 30890784Zhong K, Wang W, He F, Wang Z. The status of neonatal screening in China, 2013. J Med Screen. 2016 Jun;23(2):59-61. doi: 10.1177/0969141315597715. Epub 2015 Aug 3.
PubMed 26238341Deng K, He C, Zhu J, Liang J, Li X, Xie X, Yu P, Li N, Li Q, Wang Y. Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015. J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):601-608. doi: 10.1515/jpem-2017-0361.
PubMed 29715190Li LH, Wu WC, Li N, Lu J, Zhang GM, Zhao JY, Ma Y. Full-Term Neonatal Ophthalmic Screening in China: A Review of 4-Year Outcomes. Ophthalmic Surg Lasers Imaging Retina. 2017 Dec 1;48(12):983-992. doi: 10.3928/23258160-20171130-05.
PubMed 29253301Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, Ma BR, Pan Y, Cheng XH, Duan H, Yuan YY, Zhao LP, Chang L, Gao RZ, Liu HH, Zhang W, Huang SS, Kang DY, Liang W, Zhang K, Jiang H, Guo YL, Zhou Y, Zhang WX, Lyu F, Jin YN, Zhou Z, Lu HL, Zhang X, Liu P, Ke J, Hao JS, Huang HM, Jiang D, Ni X, Long M, Zhang L, Qiao J, Morton CC, Liu XZ, Cheng J, Han DM. Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. Am J Hum Genet. 2019 Oct 3;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26.
PubMed 31564438Lyu K, Xiong Y, Yu H, Zou L, Ran L, Liu D, Yin Q, Xu Y, Fang X, Song Z, Huang L, Tan D, Zhang Z. [Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):547-52. doi: 10.3760/cma.j.issn.1003-9406.2014.05.001. Chinese.
PubMed 25297577Hao Z, Fu D, Ming Y, Yang J, Huang Q, Lin W, Zhang H, Zhang B, Zhou A, Hu X, Yao C, Dong Y, Ring HZ, Ring BZ. Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China. PLoS One. 2018 Apr 10;13(4):e0195740. doi: 10.1371/journal.pone.0195740. eCollection 2018.
PubMed 29634755Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H. Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia. Front Genet. 2024 Jul 15;15:1403913. doi: 10.3389/fgene.2024.1403913. eCollection 2024.
PubMed 39076170
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
- Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
- ClinicalTrials.gov ID
- NCT06183138
- Acronym / sponsor ID
- MAOFGAMDNGD / SCNGSA
- Conditions
- Hereditary Diseases
- Keywords
- neonatal genetic diseases, Defect, Newborn
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 40,000 participants (estimated)
- Lead sponsor
- Sixth Affiliated Hospital, Sun Yat-sen UniversityUniversity, hospital or other
- Study start
- 1 Sep 2022 (actual)
- Primary completion
- 31 Dec 2025 (estimated)
- Study completion
- 31 Dec 2025 (estimated)
- First posted
- 27 Dec 2023 (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.
object name: Multicenter analysis of genomic and metabolic data of neonatal genetic diseases.
goal of study:(1) Gene sequencing data (138 genes related to 133 common genetic diseases) and tandem mass spectrometry metabolomics data (11 amino acids and 28 acylcarnitines) of about 40,000 newborns from the South China Neonatal Genetic Screening Alliance participating units were collected and collated to complete the database construction of genes and mass spectrometry.
(2) Explore the use of genome and metabolome big data and machine learning algorithms such as Random forest, Support Vector Machine, Elastic net, Multilayer Perceptron to construct prediction models for common genetic diseases, and strive to achieve accurate diagnosis and prediction of common genetic diseases using simple tandem mass spectrometry metabolome data, and expand the application range of tandem mass spectrometry technology for disease detection.
research design:retrospective observational study Research period:September 2022 to December 2025 Participating units:South China Neonatal genetic screening Alliance (including cooperation units of 123 hospitals) research object:Gene screening data of 40,000 newborns ( 138 genes related to 133 common genetic diseases ) and tandem mass spectrometry data ( 11 amino acids and 28 acylcarnitines ).
Inclusion criteria:( 1 ) Newborns who underwent genetic screening and tandem mass spectrometry at the same time. ( 2 ) Age : 0-28 days, gestational age 37-42 weeks.
Excluded criteria:Data that meets any of the following conditions need to be eliminated : ( 1 ) Neonatal data with unclear clinical basic information ; ( 2 ) Lack of traceability core information data ; ( 3 ) The data that the test results cannot be analyzed and interpreted.
data collection:( 1 ) Basic information : gender, age, sample type, subject traceability number / ID number, etc. ( 2 ) Clinical symptoms, biochemical and imaging data of positive samples. ( 3 ) Gene detection results and tandem mass spectrometry results. ( 4 ) Date of test data, instrument model, reagent type, etc.
Detailed description
Research Design: This study is a multi-center cooperative study of the South China Neonatal Genetic Screening Alliance. The principal investigator ( PI ) and project leader of this study are Hao Hu, chief physician of pediatrics of the Sixth Affiliated Hospital of Sun Yat-sen University, who plans to include 123 cooperative units of the South China Neonatal Genetic Screening Alliance. In this study, 40,000 neonatal genetic screening data and MS / MS data were retrospectively analyzed through multi-center cooperation. The collection date was from January 2019 to August 2022.
Through the statistical analysis of neonatal genetic screening data ( 138 genes related to 133 common genetic diseases ), the incidence of common genetic diseases in newborns in China, the carrying rate of pathogenic variation and the high-frequency variation sites of the population were clarified, and the epidemiological characteristics of newborns in China were studied.
Through the statistical analysis of neonatal genetic screening data and MS / MS metabolomics data ( 11 amino acids and 28 acylcarnitines ), the correlation between gene and metabolism will be explored, and the pathogenicity of high-frequency VUS mutation sites will be identified by using protein function artificial intelligence analysis platform and tandem mass spectrometry metabolite data.
The prediction model of common genetic diseases is constructed by using machine learning algorithms such as random forest, support vector machine, elastic network and multi-layer perceptron, so as to realize the accurate diagnosis of common genetic diseases through tandem mass spectrometry metabolomics data, and expand 2-3 kinds of diseases that can be detected by MS / MS technology.
Sample size: This study plans to collect genetic screening data ( 138 genes related to 133 common genetic diseases ) and tandem mass spectrometry metabolomics data ( 11 amino acids and 28 acylcarnitines ) of about 40,000 newborns from January 2019 to August 2022 in 123 cooperative units of the South China Neonatal Genetic Screening Alliance.
Data source: The gene sequencing data and MS / MS metabolic data of 40,000 newborns were from 123 cooperative units of the South China Neonatal Gene Screening Alliance.In this study, the data table established by Microsoft Excel was used. The neonatal gene data and tandem mass spectrometry of the multi-center cooperative units were transmitted through the Excel data table. Effective measures will be taken to strictly record, clean and check the data. Multi-centers ensure the authenticity, accuracy and completeness of the neonatal gene sequencing data and MS / MS metabolic data provided, and all data and test reports can be traced. In addition, the data management, pay attention to the confidentiality of the data, to ensure the privacy of patients and their families.
Informed consent: This study is a retrospective study. Subjects have signed informed consent from parents or guardians when doing neonatal MS / MS metabolic disease screening or genetic screening. The informed consent form clearly states that the test data can be used for scientific research after removing personal privacy information. Therefore, the application for exemption from informed consent.
Benefits of participating in research: There is no direct economic benefit for all the test subjects included in this study, but for the positive children included in this study, free first-generation sequencing verification is provided, and professional genetic counseling and clinical treatment advice are provided to parents by pediatric clinicians with the consent of the parents of the children.
Privacy protection measures: All the data of the subjects during the study period will be entered into the computer for confidential storage and analysis. If necessary, the relevant institutions may review the records to confirm the authenticity, accuracy and integrity of the data. The data obtained from the study may also be published in academic journals, but the names of the subjects will not be published, and the privacy of the subjects will be kept confidential.
All selected populations do not involve special populations, and patient privacy information is strictly protected.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Sick Neonatal Cohort | – | Genetic: Genomic sequencingInfants and their parents enrolled through Neonatal Intensive Care Unit of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby\'s medical history/physical exam, and the results of the genomic sequencing report. |
Who may qualify
- Ages
- 1 day to 28 days
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
- Study population
- The subjects were all from all the member organizations participating in the South China Neonatal Genetic Screening Alliance. They were hospitalized in the neonatal department of each member hospital.
Key inclusion criteria (2 listed)
- Age 1-28 days
- gestational age 37-42 weeks
Key exclusion criteria (3 listed)
- Neonatal data with unclear clinical basic information
- Lack of traceability core information data
- The data that the test results cannot be analyzed and interpreted
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 sequencingBoth sick and high-risk newborn un-randomized to receive genomic 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 | Sick Neonatal Cohort |
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.
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 30890784Wang Q, Xiang J, Sun J, Yang Y, Guan J, Wang D, Song C, Guo L, Wang H, Chen Y, Leng J, Wang X, Zhang J, Han B, Zou J, Yan C, Zhao L, Luo H, Han Y, Yuan W, Zhang H, Wang W, Wang J, Yang H, Xu X, Yin Y, Morton CC, Zhao L, Zhu S, Shen J, Peng Z. Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China. Genet Med. 2019 Oct;21(10):2231-2238. doi: 10.1038/s41436-019-0481-6. Epub 2019 Mar 20.
- Results publication: PubMed 26238341Zhong K, Wang W, He F, Wang Z. The status of neonatal screening in China, 2013. J Med Screen. 2016 Jun;23(2):59-61. doi: 10.1177/0969141315597715. Epub 2015 Aug 3.
- Results publication: PubMed 29715190Deng K, He C, Zhu J, Liang J, Li X, Xie X, Yu P, Li N, Li Q, Wang Y. Incidence of congenital hypothyroidism in China: data from the national newborn screening program, 2013-2015. J Pediatr Endocrinol Metab. 2018 Jun 27;31(6):601-608. doi: 10.1515/jpem-2017-0361.
- Results publication: PubMed 29253301Li LH, Wu WC, Li N, Lu J, Zhang GM, Zhao JY, Ma Y. Full-Term Neonatal Ophthalmic Screening in China: A Review of 4-Year Outcomes. Ophthalmic Surg Lasers Imaging Retina. 2017 Dec 1;48(12):983-992. doi: 10.3928/23258160-20171130-05.
- Results publication: PubMed 31564438Dai P, Huang LH, Wang GJ, Gao X, Qu CY, Chen XW, Ma FR, Zhang J, Xing WL, Xi SY, Ma BR, Pan Y, Cheng XH, Duan H, Yuan YY, Zhao LP, Chang L, Gao RZ, Liu HH, Zhang W, Huang SS, Kang DY, Liang W, Zhang K, Jiang H, Guo YL, Zhou Y, Zhang WX, Lyu F, Jin YN, Zhou Z, Lu HL, Zhang X, Liu P, Ke J, Hao JS, Huang HM, Jiang D, Ni X, Long M, Zhang L, Qiao J, Morton CC, Liu XZ, Cheng J, Han DM. Concurrent Hearing and Genetic Screening of 180,469 Neonates with Follow-up in Beijing, China. Am J Hum Genet. 2019 Oct 3;105(4):803-812. doi: 10.1016/j.ajhg.2019.09.003. Epub 2019 Sep 26.
- Results publication: PubMed 25297577Lyu K, Xiong Y, Yu H, Zou L, Ran L, Liu D, Yin Q, Xu Y, Fang X, Song Z, Huang L, Tan D, Zhang Z. [Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):547-52. doi: 10.3760/cma.j.issn.1003-9406.2014.05.001. Chinese.
- Results publication: PubMed 29634755Hao Z, Fu D, Ming Y, Yang J, Huang Q, Lin W, Zhang H, Zhang B, Zhou A, Hu X, Yao C, Dong Y, Ring HZ, Ring BZ. Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China. PLoS One. 2018 Apr 10;13(4):e0195740. doi: 10.1371/journal.pone.0195740. eCollection 2018.
- Derived from this study: PubMed 39076170Xiao D, Shi C, Zhang Y, Li S, Ye Y, Yuan G, Miu T, Ma H, Diao S, Su C, Li Z, Li H, Zhuang G, Wang Y, Lu F, Gu X, Zhou W, Xiao X, Huang W, Wei T, Hao H. Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia. Front Genet. 2024 Jul 15;15:1403913. doi: 10.3389/fgene.2024.1403913. eCollection 2024.
- 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 Hereditary Diseases, 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 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 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 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?
On the ClinicalTrials.gov record for NCT06183138, which also lists 8 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.