N-Care Project: Enhancing Asian-Pacific Collaboration

Launched by NATIONAL TAIWAN UNIVERSITY HOSPITAL · Feb 9, 2025

Keywords

ClinConnect Summary

The N-Care Project is a clinical trial focused on using advanced whole genome sequencing to quickly diagnose genetic diseases in critically ill infants and young children. This study aims to improve collaboration across the Asia-Pacific region to ensure that these young patients receive targeted treatments as soon as possible. The trial is currently recruiting participants, specifically infants and newborns under 18 months who are admitted to intensive care and show signs that suggest a genetic issue, such as multiple birth defects or significant health problems.

To be eligible for the trial, infants must have specific medical conditions that might indicate a genetic cause, like requiring surgery or having abnormal heart rhythms. However, infants with clear non-genetic diagnoses or who lack the necessary consent for testing won’t be included. Families who participate can expect their child's DNA to be tested, which could help doctors understand the underlying causes of their illnesses and guide treatment options. This trial represents an important step toward faster and more accurate diagnoses for vulnerable young patients.

Gender

ALL

Eligibility criteria

• 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.