The Effect and Mechanism of Gene Variation on Neonatal Hyperbilirubinemia

Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Observational
SUMMARY

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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 28 days
View:

• Age 1-28 days

• gestational age ≥ 35 weeks

• Birth weight ≥ 2.5 kg and \< 4 kg.

Locations
Other Locations
China
The Sixth Affiliated Hospital, Sun Yat-sen University
RECRUITING
Guangzhou
Contact Information
Primary
Hu Hao
haohu@mail.sysu.edu.cn
86-020-38777850
Backup
Wenna Lin
linwn5@mail.sysu.edu.cn
86-020-38777850
Time Frame
Start Date: 2023-09-01
Estimated Completion Date: 2024-12-31
Participants
Target number of participants: 2000
Treatments
non-significant hyperbilirubinemia
including 500 cases of non-significant hyperbilirubinemia ( TSB / TCB \< 205umol / L )
significant hyperbilirubinemia
500 cases of significant hyperbilirubinemia ( 205umol / L ≤ TSB / TCB \< 342umol / L )
severe hyperbilirubinemia
500 cases of severe hyperbilirubinemia ( TSB / TCB ≥ 342umol / L )
Extremely severe hyperbilirubinemia
500 cases ( TSB / TCB ≥ 428umol / L )
Sponsors
Leads: Sixth Affiliated Hospital, Sun Yat-sen University

This content was sourced from clinicaltrials.gov