Clinical trial NCT05476640: Newborn Sequencing Screening in China
Official title: The Application of Targeted Sequencing in the Screening of Neonatal Diseases
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Newborns
Lead sponsor: Shanghai Children's Hospital
Sponsor class: OTHER
Collaborators: name: Children's Hospital of Chongqing Medical University
name: Xuzhou maternal and Child Health Care Hospital
name: Northwest Women's and Children's Hospital, Xi'an, Shaanxi
name: Zunyi Maternal and Child Health Care Hospital
name: Inner Mongolia Maternal and Child Health Care Hospital
name: Huzhou Maternity and Child Health Care Hospital
First posted: 2022-07-27
Enrollment: 10000
Sex: ALL
Minimum age (years): 1
Maximum age (years): 28
Standard ages: CHILD
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All newborns are our targeted population.

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.

Detailed description: Neonatal screening (NBS) is the last step of birth defects prevention. Currently, biochemical and mass spectrometry are commonly used for NBS, but there are limited diseases and certain false positive/negative. High-throughput sequencing (NGS) has been widely used in prenatal diagnosis, tumor-targeted biomarkers detection and pathogen detection. Although the application of NGS in new screening has a broad prospect and many countries around the world have begun to explore it, there are still challenges in the selection of screening diseases, gene clinical phenotypes, genetic counseling and clinical pathway.

Since 2019, our team began to explore the appllication of NGS technologies in the clinical application of tertiary prevention, combined with Clinva, HGMD, OMIM database, on the basis of screening specific disease-causing genes and mutation sites as the target, A NGS panel for Newborns in China (NeoExome) was designed, covering 542 single-gene diseases with 601 genes. The rationality and validity of the NGS panel was preliminarily verified in 3423 neonatal blood samples collected from 5 new screening centers in China.

In order to further optimize the gene screening spectrum of neonatal diseases in the Chinese population, evaluate the efficacy of targeted sequencing technology in the screening and diagnosis of neonatal diseases, standardize the clinical pathway, and lay a foundation for the formulation of China's new screening NGS guidelines, the investigators further optimized the targeted sequencing package (NeoexOME-V2) on the basis of the first phase. 491 genes covering 485 single-gene genetic diseases were designed to launch the "Budding Action". The project plans to collect 10000 samples nationwide and carry out the multi-center clinical research on the application of targeted sequencing technology in the screening of neonatal diseases.

Eligibility criteria: Inclusion Criteria:

* -- 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.

Exclusion Criteria:

* 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.

Primary outcomes:
measure: Disease incidence among NGS positive participants
timeFrame: 3 years
Secondary outcomes:
measure: The consistency of test results of NGS and conventional NBS
timeFrame: 1 year
Other outcomes:
Locations:
Study officials:
affiliation: Shanghai Children's Hospital
name: Lin Zou
role: PRINCIPAL_INVESTIGATOR
References: