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The Pilot Study of High-throughput Sequencing in Neonatal Birth Defects

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ClinicalTrials.gov Identifier: NCT03984266
Recruitment Status : Not yet recruiting
First Posted : June 12, 2019
Last Update Posted : July 19, 2019
Sponsor:
Collaborators:
Northwest Women's and Children's Hospital, Xi'an, Shaanxi
Maternal and Child Health Hospital of Hubei Province
First Hospital of Jilin University
Xuzhou Maternity and Child Health Care Hospital
Information provided by (Responsible Party):
Xia Yunqiu, Children's Hospital of Chongqing Medical University

Brief Summary:
In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.

Condition or disease Intervention/treatment
Birth Defect Newborn; Fit Genetic Diseases Multiple Malformation Congenital Malformation Diagnostic Test: NGS panel

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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Other
Time Perspective: Cross-Sectional
Official Title: The Pre-clinical Study of Genomic Sequencing for Birth Defects in Newborns
Estimated Study Start Date : August 1, 2019
Estimated Primary Completion Date : July 31, 2021
Estimated Study Completion Date : December 31, 2021

Intervention Details:
  • Diagnostic Test: NGS panel
    A next-generation-sequencing panel, which contains a group of genes that specifically cause disease, for mutational analysis in newborns.


Primary Outcome Measures :
  1. Mortality [ Time Frame: At corrected age of 18 months ]
    Incidence of death

  2. Disability Rate [ Time Frame: At corrected age of 18 months ]
    Incidence of disability. Disability defined as a physical or mental handicap, especially one that prevents a person from living a full, normal life or from holding a gainful job.

  3. Allele Frequency [ Time Frame: In 120 days after receipt of all the patients' sequencing data ]
    Allele frequency, or gene frequency, is the relative frequency of an allele (variant of a gene) at a particular locus in the population the investigators studied, expressed as a percentage.



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Ages Eligible for Study:   up to 28 Days   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Neonates in one of the study hospitals
Criteria

Inclusion Criteria:

  1. Neonates in one of the study hospitals
  2. Abnormal laboratory testing or abnormal response to standard therapy suggestive of a genetic disease

Exclusion Criteria:

  1. Any infant whose genome has been shown to have large chromosomal aberration (Trisomy 13, 18, 21 or other)
  2. Any infant in which clinical considerations preclude drawing 1.0 ml of peripheral blood
  3. Parents refuse 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): NCT03984266


Contacts
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Contact: Xiaoyan He, Dr. 86-23-63622001 hexiaoyanaa@163.com

Sponsors and Collaborators
Children's Hospital of Chongqing Medical University
Northwest Women's and Children's Hospital, Xi'an, Shaanxi
Maternal and Child Health Hospital of Hubei Province
First Hospital of Jilin University
Xuzhou Maternity and Child Health Care Hospital
Investigators
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Study Chair: Lin Zou, Ph.D Children's Hospital of Chongqing Medical University

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Responsible Party: Xia Yunqiu, Research assitant, Children's Hospital of Chongqing Medical University
ClinicalTrials.gov Identifier: NCT03984266     History of Changes
Other Study ID Numbers: CHCMU-CCMM-01
First Posted: June 12, 2019    Key Record Dates
Last Update Posted: July 19, 2019
Last Verified: July 2019
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Congenital Abnormalities
Genetic Diseases, Inborn