CNGP: The China Neonatal Genomes Project

Sponsor
Children's Hospital of Fudan University (Other)
Overall Status
Recruiting
CT.gov ID
NCT03931707
Collaborator
(none)
100,000
1
64.7
1545.1

Study Details

Study Description

Brief Summary

The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.

Condition or Disease Intervention/Treatment Phase
  • Genetic: Genomic sequencing

Detailed Description

There are about 900,000 new cases of birth defects in China every year. There are a large number of hereditary diseases, such as primary immune deficiency diseases, genetic metabolic diseases and multiple malformation syndrome, etc. It is important to identify and diagnose these diseases early in life, which can optimize the treatment strategy, improve the quality of life, and achieve the purpose of accurate treatment. To improve the level of diagnosis and prevention of genetic diseases in children is conducive to the birth and education of newborn in our country. The China Neonatal Genome Project is an important part of the China Human single Target Genome Project. The investigators plan to complete genetic testing of 100,000 newborns within 5 years, establish genetic testing standards for genetic diseases of newborns, and promote precise intervention for birth defects. The Genetic Counseling Branch of China Genetics Society, the Pediatrics Hospital affiliated to Fudan University and hundreds of hospitals in China jointly launched the Chinese newborn Genome Project in Shanghai, China. The project will carry out the genetic testing of 100000 neonates in the next 5 years. The study physician and genetic counselor will provide the consultation to families utilizing all available medical information. In the sequencing analysis of the study, this will include the medical history, physical exam, family history, standard newborn screening report. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the training system for genetic counseling.

Study Design

Study Type:
Observational
Anticipated Enrollment :
100000 participants
Observational Model:
Case-Only
Time Perspective:
Cross-Sectional
Official Title:
The China Neonatal Genomes Project
Actual Study Start Date :
Aug 8, 2016
Anticipated Primary Completion Date :
Dec 30, 2021
Anticipated Study Completion Date :
Dec 30, 2021

Arms and Interventions

Arm Intervention/Treatment
Sick Neonatal Cohort, Sequencing

Infants and their parents enrolled through Neonatal Intensive Care Unit 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.

Genetic: Genomic sequencing
Both sick and high-risk newborn un-randomized to receive genomic sequencing will receive a Genomic Newborn Sequencing Report which will include pathogenic or likely pathogenic variants identified in genes associated with childhood-onset disease.

Outcome Measures

Primary Outcome Measures

  1. Number of gene sequencing data in neonatal gene bank [From birth to completion of genetic screening, the process last up to 3 months.]

    Each newborn that was sequenced was counted as 1. Keep all the data in the gene bank, and finally calculate the number of completed gene sequencing data.

  2. Gene mutation rate [From birth to completion of genetic screening, the process last up to 3 months.]

    Taking the number of newborn babies as denominator and the number of neonates with gene mutation detected in gene sequencing as molecules, the whole neonatal gene mutation rate in China was obtained.

Eligibility Criteria

Criteria

Ages Eligible for Study:
N/A to 28 Days
Sexes Eligible for Study:
All
Accepts Healthy Volunteers:
Yes
Inclusion Criteria:
    1. Both parents are of Chinese origin;
    1. Postnatal age less than 28 days;
    1. Can be retained to at least 1ml venous blood sample;
    1. Biological parent or guardian's informed consent.
Exclusion Criteria:
    1. the nationality of one of the parents is not the Han nationality or other national minorities;
    1. reluctance of parents to use genetic sequencing data for subsequent research;
    1. parents under 18 years of age or incapacitated for decision-making;
    1. subjects older than 28 days.
    1. multiple pregnancies;
    1. lack of access to biological samples from which DNA can be extracted;
    1. failure to sign informed consent

Contacts and Locations

Locations

Site City State Country Postal Code
1 Children Hospital of Fudan University Shanghai Shanghai China 201102

Sponsors and Collaborators

  • Children's Hospital of Fudan University

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:
NCT03931707
Other Study ID Numbers:
  • CHFudanU_NNICU11
First Posted:
Apr 30, 2019
Last Update Posted:
Jul 28, 2021
Last Verified:
Jul 1, 2021
Studies a U.S. FDA-regulated Drug Product:
No
Studies a U.S. FDA-regulated Device Product:
No
Keywords provided by Children's Hospital of Fudan University
Additional relevant MeSH terms:

Study Results

No Results Posted as of Jul 28, 2021