N-Care Project: Enhancing Asian-Pacific Collaboration
Trial Parameters
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.
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