A Genome-Wide Association Study for Neonatal Diseases | NCT04074824

Studies
A Genome-Wide Association Study for Neonatal Diseases

NCT04074824

Sponsor

Chinese University of Hong Kong

Status

Active, not recruiting

Last Update Posted

Jun 18, 2025Actual

Enrollment

310Estimated

Phase

Not provided

Conditions

Neonatal Disease
Necrotizing Enterocolitis

Interventions

Not provided

Countries

Hong Kong

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Jun 2025

Overall Recruitment Status or Expanded Access Status

Active, not recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 1, 2018Actual

Primary Completion Date

Oct 31, 2026Estimated

Completion Date

Oct 31, 2026Estimated

First Submitted Date

Aug 29, 2019

First Submission Date that Met QC Criteria

Aug 29, 2019

First Posted Date

Aug 30, 2019Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Jun 17, 2025

Last Update Posted Date

Jun 18, 2025Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Kathy Chan, Scientific Officer, Chinese University of Hong KongPrincipal Investigator

Lead Sponsor

Chinese University of Hong KongOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief 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.

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.

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Target Follow-Up Duration

Not provided

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

310Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
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.

Interventions

Not provided

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
NEC	Neonatal Disease	First year

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Chinese infants admitted in the neonatal unit (NNU)

Exclusion Criteria:

Refuse consent for study

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Chinese infants

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Name	Affiliation	Role
Kathy Chan, Ph. D.	CUHK	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Prince of Wales Hospital		Hong Kong			Hong Kong

References Module

Citations

PubMed Identifier	Type	Citation	Retractions
17027734	Background	Lin PW, Stoll BJ. Necrotising enterocolitis. Lancet. 2006 Oct 7;368(9543):1271-83. doi: 10.1016/S0140-6736(06)69525-1.
21247316	Background	Neu J, Walker WA. Necrotizing enterocolitis. N Engl J Med. 2011 Jan 20;364(3):255-64. doi: 10.1056/NEJMra1005408. No abstract available.

ID	Term
D007232	Infant, Newborn, Diseases
D020345	Enterocolitis, Necrotizing

ID	Term
D009358	Congenital, Hereditary, and Neonatal Diseases and Abnormalities
D004760	Enterocolitis
D005759	Gastroenteritis
D005767	Gastrointestinal Diseases