Newborn Clinical Trial - Study on Early Genetic Screening & Precise

Status Recruiting

Clinical Trial Summary

The researchers hope to establish an overall program of early genetic screening for neonatal critical illness in China, and to develop precise intervention strategies to assist clinical diagnosis and treatment of hereditary critical illness.

Clinical Trial Description

Reducing the rate of neonatal death and disability is an important part of health education in China, and genetic diseases are an important cause of neonatal death. At present, with the development of life support platform technology, the treatment level of critically ill newborns has been rapidly improved. How to quickly diagnose and early precise intervention is the key to further break through the diagnosis and treatment of genetic diseases. Based on the "neonatal genome project" carried out in the early stage, the research group based on the genetic diagnosis results of over 10000 cases of neonatal critical illness cohort, studied the genetic disease spectrum of neonatal critical illness in line with the actual situation in China. In terms of detection technology, based on the second-generation sequencing technology, we established a critical illness screening gene sequencing combination including 300 genes; In the aspect of data analysis, an intelligent analysis process integrating clinical phenotype and gene sequencing data was established; In terms of clinical diagnosis and treatment, we cooperated with 5 maternity and children's hospitals in Shanghai to carry out multi center clinical verification, and formed the implementation plan of early universal genetic screening for neonatal critical illness. Through this project, we will carry out genetic disease screening research on neonatal critical diseases, focus on typical clinical manifestations such as encephalopathy, immunodeficiency, metabolic diseases, and carry out molecular autopsy on neonatal death cases to identify potential genetic causes, so as to provide basis for the research of corresponding early precise intervention strategies, and achieve the purpose of reducing neonatal death and disability rate. ;

Study Design

Related Conditions & MeSH terms

Clinical Trial Details

NCT number	NCT04905537
Study type	Observational
Source	Children's Hospital of Fudan University
Contact	Wenhao Zhou
Phone	+86-21-64931913
Email	zhouwenhao@fudan.edu.cn
Status	Recruiting
Phase
Start date	January 1, 2021
Completion date	December 2024

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms