An observational study in Necrotizing Enterocolitis, sponsored by The First Hospital of Jilin University. Not yet recruiting. Open to participants aged 1 Day to 28 Days. Per ClinicalTrials.gov, last updated 2025-05-25.
Sponsored by The First Hospital of Jilin University · Observational
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 mortality. Early diagnosis is crucial but challenging. While next-generation sequencing (NGS) technologies like whole genome sequencing (WGS) and whole exome sequencing (WES) have significantly advanced genetic disease diagnosis, conventional WES/WGS has a long detection cycle. Rapid/ultra-rapid sequencing technologies (rWES/urWES, rWGS/urWGS) offer far-reaching clinical value.
Study Objective: This study aims to explore the application of transcriptome sequencing in clinically diagnosing neonatal genetic diseases with negative rWGS results, improve diagnostic rates, assist in early determination of disease causes, provide genetic counseling, and achieve targeted, personalized treatment guidance and prognosis evaluation.
Study Design: This is a multi-center cohort study led by the First Hospital of Jilin University, involving at least five clinical medical institutions. The planned sample size is 1,000 cases over three years. The study will include critically ill newborns under three months old, suspected of having genetic diseases based on clinical manifestations or family history, with informed consent from parents or legal guardians.
Methods: The study will conduct RNA-seq and joint analysis on 1,000 critically ill newborns with negative family-based rWGS results. The goal is to improve the interpretation of variants of uncertain significance (VUS) and the gene-positive diagnostic rate. It will accumulate disease research big data and conduct integrative genomic analyses based on Pathway and protein-protein interaction (PPI) networks to discover potential new molecular genetic mechanisms and guide new treatment developments.
Data Management: Data will be promptly, completely, accurately, and clearly recorded in case report forms and entered into a database system. Data verification, cleaning, and archiving will follow strict procedures to ensure data quality and integrity.
Data Analysis: Bioinformatics analysis of sequencing data will include quality control, data filtering, sequence alignment, mutation annotation, variant screening, single-gene mode analysis, and joint transcriptome analysis. Statistical analysis will follow traditional clinical trial methods, with a focus on controlling biases and confounding factors.
228 studies on the registry are indexed under Enterocolitis, Necrotizing; 44 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 144 across 95 observational studies indexed under Enterocolitis, Necrotizing.
Browse Enterocolitis, Necrotizing studies →The First Hospital of Jilin University is the lead sponsor of 185 studies on the registry; 96 are open to participants now.
Counted across the registry records on this site, refreshed daily.
This is a multi-center cohort study. The First Hospital of Jilin University serves as the leading unit. Other clinical medical institutions will conduct the study according to this protocol. The total planned sample size is 1,000 cases.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
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 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 Criteria:
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.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Genetic: Whole genome sequencing analysis
RNAseq
Whole genome sequencing analysis
Time frame: 2025.6.1-2028.12.31
No study locations are listed for this record.
Plan to share: No
No publications or documents are linked to this record.
Start is estimated for Jun 2025; primary completion for Dec 2028, 42 months later.
Of 39 observational studies under Enterocolitis, Necrotizing, half reached primary completion within 29 months of starting (the median), counting those still running; a quarter within 19 and three quarters within 115. This study's planned 42 months is above that.
How these figures are worked out, and which studies are left out of them.
This study is not yet recruiting, as verified in May 2025. You cannot join it, but the record below documents what was studied.
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The First Hospital of Jilin University →