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

Sponsor
Children's Hospital of Fudan University (Other)
Overall Status
Recruiting
CT.gov ID
NCT04905537
Collaborator
International Peace Maternity and Child Health Hospital (Other), Obstetrics & Gynecology Hospital of Fudan University (Other), Xinhua Hospital, Shanghai Jiao Tong University School of Medicine (Other), Shanghai Children's Medical Center (Other), Shanghai Children's Hospital (Other)
4,000
Enrollment
1
Location
47
Anticipated Duration (Months)
85.1
Patients Per Site Per Month

Study Details

Study Description

Brief 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.

Condition or Disease Intervention/Treatment Phase
  • Other: No intervention

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 Design

Study Type:
Observational
Anticipated Enrollment :
4000 participants
Observational Model:
Case-Only
Time Perspective:
Prospective
Official Title:
Study on Early Genetic Screening and Precise Strategy of Neonatal Critical Illness
Actual Study Start Date :
Jan 1, 2021
Anticipated Primary Completion Date :
Nov 1, 2024
Anticipated Study Completion Date :
Dec 1, 2024

Arms and Interventions

Arm 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.

Outcome Measures

Primary Outcome Measures

  1. Gene Mutation [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

Eligibility Criteria

Criteria

Ages Eligible for Study:
N/A to 100 Days
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
No
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.

Contacts and Locations

Locations

Site City State Country Postal Code
1 Children's Hospital of Fudan University Shanghai Shanghai China

Sponsors and Collaborators

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

Investigators

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

Study Documents (Full-Text)

None provided.

More Information

Publications

Responsible Party:
Children's Hospital of Fudan University
ClinicalTrials.gov Identifier:
NCT04905537
Other Study ID Numbers:
  • CHFudanU_NNICU15
First Posted:
May 27, 2021
Last Update Posted:
Jun 7, 2022
Last Verified:
Jun 1, 2022
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Additional relevant MeSH terms:
Stillbirth
Genetic Diseases, Inborn
Critical Illness

Study Results

No Results Posted as of Jun 7, 2022