Newborn Sequencing Screening in China

NCT05476640 | Unknown

• 1 other identifier: shercru-20220003
• Study Type: observational
• Target: 10,000
• Locations: 0 countries
• Sites: N/A

Brief Summary

The project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases.

Conditions

Newborns

Outcome Measures

Primary Outcomes (1)

• Disease incidence among NGS positive participants

  Newborn was followed up for 3 years after birth, and the follow-up results were compared to evaluate and study the relationship between gene variation and disease occurrence

  3 years

Secondary Outcomes (1)

• The consistency of test results of NGS and conventional NBS

  1 year

Study Arms (1)

National multicenter screening

NGS was performed based on conventional NBS. The relationship between NGS detected gene variation and disease occurrence was studied through follow-up.

Genetic: NGS

Interventions

NGS GENETIC

In the Nation multicenter screening cohort, NGS testing was performed on the basis of conventional NBS to study the relationship between gene variation and disease occurrence;

National multicenter screening

Eligibility Criteria

• Age: 1 Day - 28 Days
• Sex: all
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

All newborns are our targeted population.

You may qualify if:

• \-- Subjects: all newborns (from birth to 28 days);
• \-- After fully understanding the program, the guardian signs the informed consent and agrees to participate in the program.

You may not qualify if:

• Other similar clinical research projects are under way for the examined neonates;
• Neonates have received transfusion of allogeneic blood products;
• Newborns whose guardians explicitly refuse to participate in the program after receiving the mission.
• Elimination criteria
• Samples that are not properly collected or stored for testing;
• Samples with non-standard data records;
• Samples without clinical follow-up results;
• The project recalls newborns who are required to withdraw by their guardians during the follow-up.

Sponsors & Collaborators

• Shanghai Children's Hospital: lead
• Children's Hospital of Chongqing Medical University: collaborator
• Xuzhou maternal and Child Health Care Hospital: collaborator
• Northwest Women's and Children's Hospital, Xi'an, Shaanxi: collaborator
• Zunyi Maternal and Child Health Care Hospital: collaborator
• Inner Mongolia Maternal and Child Health Care Hospital: collaborator
• Huzhou Maternity and Child Health Care Hospital: collaborator

Biospecimen

Retention: SAMPLES WITH DNA

A dry blood spot was made on the basis of routine blood collection.

Study Officials

• Lin Zou

  Shanghai Children's Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Lin Zou

CONTACT

18623121280; zoulin@shchildren.com.cn

Ziyang Cao

CONTACT

13521377131; caoziyang@bjmu.edu.cn

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 19, 2022
• First Posted: July 27, 2022
• Study Start: August 5, 2022
• Primary Completion: August 31, 2025
• Study Completion: December 31, 2025
• Last Updated: July 27, 2022

Record last verified: 2022-07