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Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases

NCT06183138 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 40000

Last updated 2024-01-02

No results posted yet for this study

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

Interventions

GENETIC

Genomic sequencing

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.

Sponsors & Collaborators

  • Sixth Affiliated Hospital, Sun Yat-sen University

    lead OTHER

Principal Investigators

  • Hu Hao · Department of Pediatrics, The Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, China

Eligibility

Min Age
1 Day
Max Age
28 Days
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2022-09-01
Primary Completion
2025-12-31
Completion
2025-12-31

Countries

  • China

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06183138 on ClinicalTrials.gov