Clinical Trial Details
— Status: Not yet recruiting
Administrative data
| NCT number |
NCT05476055 |
| Other study ID # |
shercru-20220003-1 |
| Secondary ID |
|
| Status |
Not yet recruiting |
| Phase |
|
| First received |
|
| Last updated |
|
| Start date |
August 2022 |
| Est. completion date |
December 2024 |
Study information
| Verified date |
July 2022 |
| Source |
Shanghai Children's Hospital |
| Contact |
Lin Zou |
| Phone |
18623121280 |
| Email |
zoulin[@]shchildren.com.cn |
| Is FDA regulated |
No |
| Health authority |
|
| Study type |
Observational
|
Clinical Trial Summary
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.
Description:
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.
