Clinical trial
The Effect and Mechanism of Gene Variation on Neonatal Hyperbilirubinemia
Name
EMGVNHB
Description
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.
Trial arms
Trial start
2023-09-01
Estimated PCD
2024-12-31
Trial end
2024-12-31
Status
Recruiting
Treatment
Genomic sequencing
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.
Arms:
Extremely severe hyperbilirubinemia, non-significant hyperbilirubinemia, severe hyperbilirubinemia, significant hyperbilirubinemia
Size
2000
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.
carrying rate of pathogenic genes
From birth to completion of genetic screening, the process last up to 3 months.
phenotypic polymorphism
From birth to completion of genetic screening, the process last up to 3 months.
Eligibility criteria
Inclusion Criteria:
* Age 1-28 days
* gestational age ≥ 35 weeks
* Birth weight ≥ 2.5 kg and \< 4 kg.
Exclusion Criteria:
* 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
Protocol
{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'COHORT', 'timePerspective': 'PROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Any newborn who joined the 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': 2000, 'type': 'ESTIMATED'}}
Updated at
2024-01-02
1 organization
1 product
1 indication
Product
Genomic sequencingIndication
Neonatal Hyperbilirubinemia