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The China Neonatal Genomes Project (CNGP)

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ClinicalTrials.gov Identifier: NCT03931707
Recruitment Status : Recruiting
First Posted : April 30, 2019
Last Update Posted : April 30, 2019
Sponsor:
Information provided by (Responsible Party):
Children's Hospital of Fudan University

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
Newborn Hereditary Disease Genetic Predisposition to Disease Defect, Congenital 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.

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

Resource links provided by the National Library of Medicine


Group/Cohort 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.




Primary Outcome Measures :
  1. Number of gene sequencing data in neonatal gene bank [ Time Frame: 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 [ Time Frame: 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.


Biospecimen Retention:   Samples With DNA
Any newborn who joined the newborn genome project, his/her parents will be informed and signed informed consent, in the newborn clinical treatment process to collect venous blood 2ml for gene sequencing and mutation screening.


Information from the National Library of Medicine

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Ages Eligible for Study:   up to 28 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
The subjects were all from all the member organizations participating in the China Newborn Genome Project. They were hospitalized in the neonatal department of each member hospital.
Criteria

Inclusion Criteria:

  • 1. Both parents are of Chinese origin;
  • 2. Postnatal age less than 28 days;
  • 3. Can be retained to at least 1ml venous blood sample;
  • 4. 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;
  • 2. reluctance of parents to use genetic sequencing data for subsequent research;
  • 3. parents under 18 years of age or incapacitated for decision-making;
  • 4. subjects older than 28 days.
  • 5. multiple pregnancies;
  • 6. lack of access to biological samples from which DNA can be extracted;
  • 7. failure to sign informed consent

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03931707


Contacts
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Contact: Wenhao Zhou zwhchfu@126.com
Contact: Lin Yang yanglin_fudan@163.com

Locations
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China, Shanghai
Children Hospital of Fudan University Recruiting
Shanghai, Shanghai, China, 201102
Contact: Wenhao Zhou, Doctor    (+86)021-64931003    zwhchfu@126.com   
Sponsors and Collaborators
Children's Hospital of Fudan University
Investigators
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Study Chair: Wenhao Zhou Children's Hospital of Fudan University

Publications:

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Responsible Party: Children's Hospital of Fudan University
ClinicalTrials.gov Identifier: NCT03931707     History of Changes
Other Study ID Numbers: CHFudanU_NNICU11
First Posted: April 30, 2019    Key Record Dates
Last Update Posted: April 30, 2019
Last Verified: April 2019

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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:
Newborn
Hereditary Disease
Genetic Predisposition to Disease
Defect, Congenital
Genome Sequencing
Exome Sequencing
Newborn Screening
Genetic Diseases, Inborn
Additional relevant MeSH terms:
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Congenital Abnormalities
Genetic Diseases, Inborn
Disease Susceptibility
Genetic Predisposition to Disease
Disease Attributes
Pathologic Processes