N-Care Project: Enhancing Asian-Pacific Collaboration

NCT06821386 | Recruiting

• 1 other identifier: 202412119RINA
• Study Type: observational
• Target: 70
• Locations: 1 country
• Sites: 1

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.

Conditions

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

Outcome Measures

Primary Outcomes (1)

• Positive yield rate

  The percentage of individuals who test positive among the long-read sequencing exam

  9 days after enrollment

Interventions

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.

Eligibility Criteria

• Age: Up to 18 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• 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.

You may qualify if:

• 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

You may not qualify if:

• 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.

Sponsors & Collaborators

• National Taiwan University Hospital: lead

Study Sites (1)

National Taiwan University Hospital

Taipei, Taiwan

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Extracted the DNA from 3-5cc whole blood

MeSH Terms

Conditions

Genetic Diseases, Inborn

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Ni-Chung Lee, MDPhD

CONTACT

+886-2-23123456; ncleentu@ntu.edu.tw

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 3, 2025
• First Posted: February 12, 2025
• Study Start: February 17, 2025
• Primary Completion: December 31, 2025
• Study Completion (Estimated): December 31, 2032
• Last Updated: February 20, 2025

Record last verified: 2025-02

Locations

TW (1)