Newborn Sequencing Screening in China

NCT05476640 | Terminated

• 1 other identifier: shercru-20220003
• Study Type: observational
• Target: 3,348
• Locations: 1 country
• Sites: 1

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)

• Outcome measure

  Kappa coefficient to evaluate the agreement strength. Positive Percent Agreement (PPA) and Negative Percent Agreement (NPA) calculated based on the 2x2 contingency table (True Positive, False Positive, False Negative, True Negative).

  From enrollment to the end of test at 3 years

Secondary Outcomes (1)

• The consistency of test results of NGS and conventional NBS

  From enrollment to the end of testt at 8 weeks

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
• Xuzhou maternal and Child Health Care Hospital: collaborator
• Northwest Women's and Children's Hospital, Xi'an, Shaanxi: collaborator
• Inner Mongolia Maternal and Child Health Care Hospital: collaborator

Study Sites (1)

Shanghai Children's hospital

Shanghai, 200062, China

Location

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

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: September 20, 2022
• Primary Completion: January 31, 2024
• Study Completion: January 31, 2024
• Last Updated: May 27, 2026

Record last verified: 2024-07

Locations

CN (1)