Status:
NOT_YET_RECRUITING
Application of Transcriptome Sequencing Combined With Family-Based Whole Genome Sequencing in Improving Precise Diagnosis of Critically Ill Newborns in Northeast China
Lead Sponsor:
The First Hospital of Jilin University
Conditions:
Necrotizing Enterocolitis
Eligibility:
All Genders
1-28 years
Brief Summary
Background: Birth defects and genetic diseases are major threats to infant health. Many genetic diseases present atypically in newborns, who often have critical conditions, rapid progression, and high...
Eligibility Criteria
Inclusion
- Critically ill newborns under the age of 3 months. Suspected of having a genetic disease based on clinical manifestations (such as abnormal phenotypes) or family history.
- Parents or legal guardians provide informed consent to participate in the study and agree to undergo rapid/ultra-rapid WGS sequencing. In cases of negative results, further transcriptome sequencing will be conducted.
Exclusion
- The principal investigator deems the participant unsuitable for the study. Diseases caused by pregnancy, perinatal infection, ischemia, hypoxia, and other non-genetic factors.
- Inability to fully cooperate with the study, affecting data integrity. The child already has a genetic diagnosis that fully explains the disease onset.
Key Trial Info
Start Date :
June 1 2025
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 31 2028
Estimated Enrollment :
1000 Patients enrolled
Trial Details
Trial ID
NCT06990334
Start Date
June 1 2025
End Date
December 31 2028
Last Update
May 25 2025
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