NGS in the Diagnosis of Neonatal Diseases

NCT ID: NCT05476055

Last Updated: 2022-07-27

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

UNKNOWN

Total Enrollment

1800 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-08-31

Study Completion Date

2024-12-31

Brief Summary

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To investigate the application of NGS in neonatal disease screening and diagnosis, two studies was conducted (the other ID is: shercru-20220003). This study is to evaluate the application of NGS in the diagnosis of neonatal disease.

Detailed Description

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As health care has improved, genetic diseases have become the leading cause of infant death in hospitalized neonatal. However, due to extensive clinical and genetic heterogeneity, differential diagnosis of all known genetic disorders is often a challenging and lengthy process. Current clinical potential genetic diagnosis of ill baby often undergo repeated consulting, several times repeated invasive testing and/or metabolic examination, and efficiency is not high, which lead to children's and family's heavy mental pressure and economic burden.

Targeted sequencing, also known as next Generation sequence (NGS), has the advantages of fast sequencing, wide sequencing range, high sensitivity, high accuracy and low cost compared with traditional sequencing technology (Sanger sequencing). NGS has been widely used in tumor diseases, prenatal screening, drugs and the diagnosis of various genetic diseases. In prenatal screening, targeted sequencing is gradually used to detect free fetal DNA in pregnant women's peripheral blood, with an accuracy of 95%, which is much better than traditional amniocentesis karyotype analysis and improves the detection rate of secondary birth defects. Compared with traditional methods, NGS can provide diagnosis and classification, rich genetic disease gene spectrum, accurate direction for treatment, as well as the predict the risk of the next generation of children of the same disease. Therefore, targeted sequencing technology has great advantages for the diagnosis of children and prevention of newborn birth defect diseases.

To evaluate the efficacy of NGS in the screening and diagnosis of neonatal disease, the investigator lauched the "Budding Action". This study is to evaluate the application of NGS in the diagnosis of neonatal disease.

Conditions

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NICU Infants Conventional NBS-positive Infants Premature Infants

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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conventional NBS+ infants

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

No interventions assigned to this group

conventional NBS+ infants (NGS)

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

NGS

Intervention Type GENETIC

In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children

NICU infants

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

No interventions assigned to this group

NICU infants (NGS)

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

NGS

Intervention Type GENETIC

In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children

Premature infants

Disease diagnosis is carried out using conventional diagnosis and treatment methods.

No interventions assigned to this group

Premature infants (NGS)

Disease diagnosis is carried out using conventional diagnosis and treatment methods, as well as NGS.

NGS

Intervention Type GENETIC

In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children

Interventions

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NGS

In the conbentional NBS+/NICU/premature infants, NGS was conducted to investigate whether NGS can accelerate diagnosis and improve prognosis in these children

Intervention Type GENETIC

Eligibility Criteria

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Inclusion Criteria

* Subjects: conventional NBS+ infants NICU infants premature infants
* 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.
Minimum Eligible Age

1 Day

Maximum Eligible Age

1 Year

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Children's Hospital of Chongqing Medical University

OTHER

Sponsor Role collaborator

Xuzhou maternal and Child Health Care Hospital

UNKNOWN

Sponsor Role collaborator

Shanghai Children's Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Lin Zou

Role: PRINCIPAL_INVESTIGATOR

Shanghai Children's Hospital

Central Contacts

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Lin Zou

Role: CONTACT

18623121280

Ziyang Cao

Role: CONTACT

13521377131

Other Identifiers

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shercru-20220003-1

Identifier Type: -

Identifier Source: org_study_id

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