Neonatal DiseaseNCT04074824
A Genome-Wide Association Study for Neonatal Diseases
An observational study of Neonatal Disease and Necrotizing Enterocolitis, run by Chinese University of Hong Kong at 1 site in Hong Kong.
Trial summary
This is an observational study to identify genetic risks for neonatal diseases, necrotizing enterocolitis (NEC) using genome-wide association study (GWAS) and enterotype investigation. We hypothesize that specific genetic factors and microbiome could predispose preterm neonates for the development of NEC. Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Neonatal Disease, Necrotizing Enterocolitis
- How many people
- 310 participants
- Where
- 1 siteHong Kong
- Study dates
- 1 Sep 2018to 31 Oct 2026
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: Chinese infants
Who may be able to join
- Chinese infants admitted in the neonatal unit (NNU)
Who cannot join
- Refuse consent for study
Trial locations and contacts
1 site in 1 country.
About this study
Official title: A Genome-Wide Association Study on Chinese Preterm Neonates and Identification of Functional Variants for Susceptibility to Necrotising Enterocolitis
This is an observational study to identify genetic risks for neonatal diseases, necrotizing enterocolitis (NEC) using genome-wide association study (GWAS) and enterotype investigation. We hypothesize that specific genetic factors and microbiome could predispose preterm neonates for the development of NEC.
Read the detailed description
NEC is the most frequently encountered surgical emergencies and a life-threatening disease that predominantly affects preterm neonates. The incidence is estimated to be 7-10% in ver low birth weight (VLBW) neonates (Lin and Stoll, 2006; Neu and Walker, 2011). However, a significant proportion of affected neonates (20-30%) develops severe progressive disease with intestinal necrosis and complications resulting in gut perforation and peritonitis which require urgent surgical intervention (surgical cases) (Sharma et al., 2006). The mortality rate of surgical cases is high (25-50%), and may increase to 100% in patients with pan-necrosis of the bowel. Those neonates who survived often suffer severe morbidity, including short bowel syndrome, parenteral nutrition-associated cholestasis, poor physical growth and neurodevelopmental impairment (Neu and Walker, 2011; Salhab et al., 2004). However, the etiology and pathophysiology of NEC remain incompletely understood. The current knowledge has directed towards multiple predisposing factors which include prematurity, immature gut mucosa and host defense immunity, formula milk feeding and altered microbial colonization in the gut resulting in excessive inflammatory response, leading to irreversible intestinal cell death and gut necrosis (Neu and Walker, 2011; Chan et al., 2013). To date, no genetic risk markers or biomarkers are available for reliable prediction of neonates who are at high risk of developing NEC. Besides host genetic factors, gut bacteria have been reported to predispose neonates to disease risk (Mai et. al., 2011; Neu and Pammi, 2018).
In this study, we shall conduct a GWAS on Chinese preterm neonates for identification of genetic risks for NEC and determine gut microbiome structure (enterotype) of NEC.
- Conditions
- Neonatal Disease, Necrotizing Enterocolitis
- Medical subject headings
- Infant, Newborn, Diseases, Enterocolitis, Necrotizing
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Necrotizing enterocolitis | Neonates diagnosed with NEC based on the Modified Bell criteria for NEC including clinical, radiological and Laboratory findings. | |
| Non-NEC | Neonates diagnosed with other conditions including low birthweight, prematurity, infection, metabolic, cardiovascular, CNS, respiratory or gastrointestinal problems. |
What is being measured
The primary outcome is the main question the study is designed to answer.
NEC
Neonatal Disease
Measured: First year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted30 Aug 2019
- Study start1 Sep 2018
- Primary completion31 Oct 2026 (estimated)
- Study completion31 Oct 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Neonatal DiseaseStudies of the same condition, open and under way.
- More trials run by Chinese University of Hong KongThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 310 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Chinese University of Hong Kong
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Kathy Chan, Chinese University of Hong Kong
- Investigators
- Kathy Chan, Ph. D., Principal investigator, CUHK
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04074824
- Sponsor's protocol ID
- 2017.493
- Status last verified
- Jun 2025
- First submitted
- 29 Aug 2019
- Last updated
- 18 Jun 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Lin PW, Stoll BJ. Necrotising enterocolitis. Lancet. 2006 Oct 7;368(9543):1271-83. doi: 10.1016/S0140-6736(06)69525-1.
PubMed 17027734Neu J, Walker WA. Necrotizing enterocolitis. N Engl J Med. 2011 Jan 20;364(3):255-64. doi: 10.1056/NEJMra1005408. No abstract available.
PubMed 21247316Sharma R, Hudak ML, Tepas JJ 3rd, Wludyka PS, Marvin WJ, Bradshaw JA, Pieper P. Impact of gestational age on the clinical presentation and surgical outcome of necrotizing enterocolitis. J Perinatol. 2006 Jun;26(6):342-7. doi: 10.1038/sj.jp.7211510.
PubMed 16724075Salhab WA, Perlman JM, Silver L, Sue Broyles R. Necrotizing enterocolitis and neurodevelopmental outcome in extremely low birth weight infants <1000 g. J Perinatol. 2004 Sep;24(9):534-40. doi: 10.1038/sj.jp.7211165.
PubMed 15254558Chan KY, Leung KT, Tam YH, Lam HS, Cheung HM, Ma TP, Lee KH, To KF, Li K, Ng PC. Genome-wide expression profiles of necrotizing enterocolitis versus spontaneous intestinal perforation in human intestinal tissues: dysregulation of functional pathways. Ann Surg. 2014 Dec;260(6):1128-37. doi: 10.1097/SLA.0000000000000374.
PubMed 24368664Mai V, Young CM, Ukhanova M, Wang X, Sun Y, Casella G, Theriaque D, Li N, Sharma R, Hudak M, Neu J. Fecal microbiota in premature infants prior to necrotizing enterocolitis. PLoS One. 2011;6(6):e20647. doi: 10.1371/journal.pone.0020647. Epub 2011 Jun 6.
PubMed 21674011Neu J, Pammi M. Necrotizing enterocolitis: The intestinal microbiome, metabolome and inflammatory mediators. Semin Fetal Neonatal Med. 2018 Dec;23(6):400-405. doi: 10.1016/j.siny.2018.08.001. Epub 2018 Aug 17.
PubMed 30172660
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Genome-Wide Association Study on Chinese Preterm Neonates and Identification of Functional Variants for Susceptibility to Necrotising Enterocolitis
- ClinicalTrials.gov ID
- NCT04074824
- Acronym / sponsor ID
- 2017.493
- Conditions
- Neonatal Disease, Necrotizing Enterocolitis
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 310 participants (estimated)
- Lead sponsor
- Chinese University of Hong KongUniversity, hospital or other
- Study start
- 1 Sep 2018 (actual)
- Primary completion
- 31 Oct 2026 (estimated)
- Study completion
- 31 Oct 2026 (estimated)
- First posted
- 30 Aug 2019 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
This is an observational study to identify genetic risks for neonatal diseases, necrotizing enterocolitis (NEC) using genome-wide association study (GWAS) and enterotype investigation. We hypothesize that specific genetic factors and microbiome could predispose preterm neonates for the development of NEC.
Detailed description
NEC is the most frequently encountered surgical emergencies and a life-threatening disease that predominantly affects preterm neonates. The incidence is estimated to be 7-10% in ver low birth weight (VLBW) neonates (Lin and Stoll, 2006; Neu and Walker, 2011). However, a significant proportion of affected neonates (20-30%) develops severe progressive disease with intestinal necrosis and complications resulting in gut perforation and peritonitis which require urgent surgical intervention (surgical cases) (Sharma et al., 2006). The mortality rate of surgical cases is high (25-50%), and may increase to 100% in patients with pan-necrosis of the bowel. Those neonates who survived often suffer severe morbidity, including short bowel syndrome, parenteral nutrition-associated cholestasis, poor physical growth and neurodevelopmental impairment (Neu and Walker, 2011; Salhab et al., 2004). However, the etiology and pathophysiology of NEC remain incompletely understood. The current knowledge has directed towards multiple predisposing factors which include prematurity, immature gut mucosa and host defense immunity, formula milk feeding and altered microbial colonization in the gut resulting in excessive inflammatory response, leading to irreversible intestinal cell death and gut necrosis (Neu and Walker, 2011; Chan et al., 2013). To date, no genetic risk markers or biomarkers are available for reliable prediction of neonates who are at high risk of developing NEC. Besides host genetic factors, gut bacteria have been reported to predispose neonates to disease risk (Mai et. al., 2011; Neu and Pammi, 2018).
In this study, we shall conduct a GWAS on Chinese preterm neonates for identification of genetic risks for NEC and determine gut microbiome structure (enterotype) of NEC.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Necrotizing enterocolitis | – | –Neonates diagnosed with NEC based on the Modified Bell criteria for NEC including clinical, radiological and Laboratory findings. |
| Non-NEC | – | –Neonates diagnosed with other conditions including low birthweight, prematurity, infection, metabolic, cardiovascular, CNS, respiratory or gastrointestinal problems. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Chinese infants
Key inclusion criteria (1 listed)
- Chinese infants admitted in the neonatal unit (NNU)
Key exclusion criteria (1 listed)
- Refuse consent for study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
NEC
Time frame: First year
Neonatal Disease
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2025.
- Background: PubMed 17027734Lin PW, Stoll BJ. Necrotising enterocolitis. Lancet. 2006 Oct 7;368(9543):1271-83. doi: 10.1016/S0140-6736(06)69525-1.
- Background: PubMed 21247316Neu J, Walker WA. Necrotizing enterocolitis. N Engl J Med. 2011 Jan 20;364(3):255-64. doi: 10.1056/NEJMra1005408. No abstract available.
- Background: PubMed 16724075Sharma R, Hudak ML, Tepas JJ 3rd, Wludyka PS, Marvin WJ, Bradshaw JA, Pieper P. Impact of gestational age on the clinical presentation and surgical outcome of necrotizing enterocolitis. J Perinatol. 2006 Jun;26(6):342-7. doi: 10.1038/sj.jp.7211510.
- Background: PubMed 15254558Salhab WA, Perlman JM, Silver L, Sue Broyles R. Necrotizing enterocolitis and neurodevelopmental outcome in extremely low birth weight infants <1000 g. J Perinatol. 2004 Sep;24(9):534-40. doi: 10.1038/sj.jp.7211165.
- Background: PubMed 24368664Chan KY, Leung KT, Tam YH, Lam HS, Cheung HM, Ma TP, Lee KH, To KF, Li K, Ng PC. Genome-wide expression profiles of necrotizing enterocolitis versus spontaneous intestinal perforation in human intestinal tissues: dysregulation of functional pathways. Ann Surg. 2014 Dec;260(6):1128-37. doi: 10.1097/SLA.0000000000000374.
- Background: PubMed 21674011Mai V, Young CM, Ukhanova M, Wang X, Sun Y, Casella G, Theriaque D, Li N, Sharma R, Hudak M, Neu J. Fecal microbiota in premature infants prior to necrotizing enterocolitis. PLoS One. 2011;6(6):e20647. doi: 10.1371/journal.pone.0020647. Epub 2011 Jun 6.
- Background: PubMed 30172660Neu J, Pammi M. Necrotizing enterocolitis: The intestinal microbiome, metabolome and inflammatory mediators. Semin Fetal Neonatal Med. 2018 Dec;23(6):400-405. doi: 10.1016/j.siny.2018.08.001. Epub 2018 Aug 17.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Kathy Chan, Ph. D. principal investigator
CUHK
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Neonatal Disease and Necrotizing Enterocolitis, run by Chinese University of Hong Kong at 1 site in Hong Kong.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 18 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Hong Kong. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
NEC (time frame: First year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04074824, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2025.