N-Care Project: Enhancing Asian-Pacific Collaboration (N-Care project)

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.

Study Overview

• Status: Recruiting
• Conditions: Genetic Disease; Whole Genome Sequencing; Critical Care, Intensive Care; Nanopore Sequencing
• Intervention / Treatment: Diagnostic test: Genetic study with nanopore sequencing

Detailed Description

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

• Study Type: Observational
• Enrollment (Estimated): 70

Contacts and Locations

• Study Contact: Name: Ni-Chung Lee, MDPhD; Phone Number: 271936 +886-2-23123456; Email: ncleentu@ntu.edu.tw

Study Locations

• Taiwan
  • Taipei, Taiwan
    • Recruiting
    • National Taiwan University Hospital
    • Contact: Ni-Chung Lee, PhD; Phone Number: 271936 +886-23123456; Email: ncleentu@ntu.edu.tw

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

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

Description

Inclusion Criteria:

1. Age: infant/newborn less than 18 months
2. Admitted to intensive care unit

3. 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:

1. 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
2. Confirmed genetic diagnosis explains illness
3. Lack of consent: Families who do not consent to genetic testing or data sharing.
4. Infants without sufficient DNA sample quality/quantity: Where the quality or quantity of the DNA sample is inadequate for sequencing.

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

• Sponsor: National Taiwan University Hospital

Study record dates

Study Major Dates

• Study Start (Estimated): February 17, 2025
• Primary Completion (Estimated): December 31, 2025
• Study Completion (Estimated): December 31, 2032

Study Registration Dates

• First Submitted: February 3, 2025
• First Submitted That Met QC Criteria: February 9, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: February 18, 2025
• Last Verified: February 1, 2025

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Genetic Diseases, Inborn
• Other Study ID Numbers: 202412119RINA

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No