Clinical trial
Multicenter Analysis of Genomic and Metabolic Data of Neonatal Genetic Diseases
Name
SCNGSA
Description
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.
Trial arms
Trial start
2022-09-01
Estimated PCD
2025-12-31
Trial end
2025-12-31
Status
Recruiting
Treatment
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.
Arms:
Sick Neonatal Cohort
Size
40000
Primary endpoint
Number of gene sequencing data in neonatal gene bank
From birth to completion of genetic screening, the process last up to 3 months.
Gene mutation rate
From birth to completion of genetic screening, the process last up to 3 months.
Eligibility criteria
Inclusion Criteria:
* Age 1-28 days
* gestational age 37-42 weeks
Exclusion Criteria:
* Neonatal data with unclear clinical basic information
* Lack of traceability core information data
* The data that the test results cannot be analyzed and interpreted
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'CASE_ONLY', 'timePerspective': 'CROSS_SECTIONAL'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': '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'}, 'enrollmentInfo': {'count': 40000, 'type': 'ESTIMATED'}}
Updated at
2024-01-02
1 organization
1 product
1 indication
Product
Genomic sequencingIndication
Hereditary Diseases