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

July 3, 2023 updated by: Children's Hospital of Fudan University
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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed 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 Type

Observational

Enrollment (Estimated)

4000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 3 months (Child)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The subjects were all from all the member organizations participating in this research. They were hospitalized in the neonatal department or stillbirth in obstetrics department of each member hospital.

Description

Inclusion Criteria:

  • Postnatal age less than 100 days;
  • Perinatal death after 20 weeks of gestation (more than 500 g)
  • Can be retained biological samples for genetic screening;
  • Biological parent or guardian's informed consent.

Exclusion Criteria:

  • Reluctance of parents to use genetic sequencing data for subsequent research;
  • Parents under 18 years of age or incapacitated for decision-making;
  • subjects older than 100 days;
  • Perinatal death less than 20 weeks of gestation or weight less than 500 g;
  • Inherited metabolic diseases with chromosomal abnormalities;
  • Multiple pregnancies;
  • Lack of access to biological samples from which DNA can be extracted;
  • Failure to sign informed consent.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Sick Neonates or Stillbirth
Infants and their parents enrolled through Neonatal Intensive Care Unit or stillbirths through Obstetrics Department of member hospitals who are un-randomized to receive genomic sequencing. Results disclosure sessions will include a discussion of: family history report, results from standard newborn screening, any potentially medically relevant findings from the baby's medical history/ physical exam, and the results of the genomic sequencing report.
Other: No intervention
It's only observational study. No interventions.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Gene Mutation
Time Frame: In 3 months after receipt of the samples
To detect the mutation and characterize the genetic architecture and risk variants (911 variants of 146 genes, for example, AGT, AGTR1, CA12, CD2AP et al) of subjects using different genomic methods
In 3 months after receipt of the samples

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Fudan University

Collaborators

Shanghai Children's Hospital
Shanghai Children's Medical Center
Xinhua Hospital, Shanghai Jiao Tong University School of Medicine
Obstetrics & Gynecology Hospital of Fudan University
International Peace Maternity and Child Health Hospital

Investigators

  • Study Chair: Wenhao Zhou, Children's Hospital of Fudan University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2021

Primary Completion (Estimated)

November 1, 2024

Study Completion (Estimated)

December 1, 2024

Study Registration Dates

First Submitted

May 25, 2021

First Submitted That Met QC Criteria

May 25, 2021

First Posted (Actual)

May 27, 2021

Study Record Updates

Last Update Posted (Actual)

July 5, 2023

Last Update Submitted That Met QC Criteria

July 3, 2023

Last Verified

July 1, 2023

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHFudanU_NNICU15

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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