Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases

NCT06183138 | Unknown DMC

• 1 other identifier: SCNGSA
• Study Type: observational
• Target: 40,000
• Locations: 1 country
• Sites: 1

Brief 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 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.

Conditions

Hereditary Diseases

Keywords

neonatal genetic diseases; Defect; Newborn

Outcome Measures

Primary Outcomes (2)

• 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.

  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.

  From birth to completion of genetic screening, the process last up to 3 months.

Study Arms (1)

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.

Genetic: Genomic sequencing

Interventions

Genomic sequencing GENETIC

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.

Sick Neonatal Cohort

Eligibility Criteria

• Age: 1 Day - 28 Days
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• Age 1-28 days
• gestational age 37-42 weeks

You may not qualify if:

• Neonatal data with unclear clinical basic information
• Lack of traceability core information data
• The data that the test results cannot be analyzed and interpreted

Sponsors & Collaborators

• Sixth Affiliated Hospital, Sun Yat-sen University: lead

Study Sites (1)

The Sixth Affiliated Hospital, Sun Yat-sen University

Guangzhou, Guangdong, 510655, China

RECRUITING

Related Publications (8)

• 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.

  PMID: 30890784 RESULT

• Zhong 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.

  PMID: 26238341 RESULT

• Deng 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.

  PMID: 29715190 RESULT

• Li 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.

  PMID: 29253301 RESULT

• Dai 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.

  PMID: 31564438 RESULT

• Lyu 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.

  PMID: 25297577 RESULT

• Hao 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.

  PMID: 29634755 RESULT

• Xiao 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.

  PMID: 39076170 DERIVED

Biospecimen

Retention: SAMPLES WITH DNA

Any newborn who joined the newborn genome project, his/her parents will be informed and signed informed consent, in the newborn clinical treatment process to collect venous blood 2ml for gene sequencing and mutation screening

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Hu Hao

  Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

  STUDY DIRECTOR

Central Study Contacts

Hu Hao

CONTACT

86-020-38777850; haohu@mail.sysu.edu.cn

Wenna Lin

CONTACT

86-020-38777850; linwn5@mail.sysu.edu.cn

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Project leader

Study Record Dates

• First Submitted: December 13, 2023
• First Posted: December 27, 2023
• Study Start: September 1, 2022
• Primary Completion: December 31, 2025
• Study Completion: December 31, 2025
• Last Updated: January 2, 2024

Record last verified: 2023-12

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)