N-Care Project: Enhancing Asian-Pacific Collaboration | NCT06821386

Studies
N-Care Project: Enhancing Asian-Pacific Collaboration

NCT06821386

Sponsor

National Taiwan University Hospital

Status

Recruiting

Last Update Posted

Feb 20, 2025Actual

Enrollment

70Estimated

Phase

Not provided

Conditions

Whole Genome Sequencing
Genetic Disease
Critical Care, Intensive Care
Nanopore Sequencing

Interventions

Genetic study with nanopore sequencing

Countries

Taiwan

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

Feb 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Feb 17, 2025Estimated

Primary Completion Date

Dec 31, 2025Estimated

Completion Date

Dec 31, 2032Estimated

First Submitted Date

Feb 3, 2025

First Submission Date that Met QC Criteria

Feb 9, 2025

First Posted Date

Feb 12, 2025Actual

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

Feb 18, 2025

Last Update Posted Date

Feb 20, 2025Actual

Oversight Module

Has Data Monitoring Committee (DMC)

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

Through Asian-Pacific multinational collaboration, we aim to utilize third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children, achieving the goal of early diagnosis for targeted treatment.

Detailed Description

A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.

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

70Estimated

Arms/Interventions Module

Arm Groups

Not provided

Interventions

Name	Type	Description	Arm Group Labels	Other Names
Genetic study with nanopore sequencing	Diagnostic Test	The study targets critically ill children under 18 months of age, employing third-generation genome sequencing technology to complete long-read sequencing within 8-11 days, analyzing single nucleotide variants, small insertions/deletions, and structural variations. Through this research, we aim to enhance diagnostic accuracy, enabling ICUs to provide personalized and precision care and treatment based on genetic information, thereby ensuring a greater level of health security for these children. We only draw 3-5cc whole blood once for exam.

Measure	Description	Time Frame
Positive yield rate	The percentage of individuals who test positive among the long-read sequencing exam	9 days after enrollment

Eligibility Module

Eligibility Criteria

Inclusion Criteria:

Age: infant/newborn less than 18 months
Admitted to intensive care unit
At least one of the following conditions A. Specific anomaly highly suggestive of a genetic etiology
- Multiple birth defects
- Single major malformation that required intervention (surgery or medication)
- Significantly abnormal EKG
- Significant hypotonia

B. Children with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following:

Recurrent severe infection events
Recurrent or prolonged seizures
Unexplained cardiopulmonary resuscitation (CPR)
Suspect inborn error of metabolism

Exclusion Criteria:

Infants with a definitive non-genetic diagnosis: ex as below A. An infection with normal response to therapy B. Isolated prematurity C. Transient hypoglycemia D. Isolated unconjugated hyperbilirubinemia E. Isolated Transient Neonatal Tachypnea F. Those where the clinical course can be explained without genetic testing
Confirmed genetic diagnosis explains illness
Lack of consent: Families who do not consent to genetic testing or data sharing.
Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

Not provided

Maximum Age

18 Months

Standard Ages

Child

Study Population

Infants or newborns under 18 months of age admitted to the ICU with a high suspicion of a genetic disease.

Sampling Method

Probability Sample