N-Care Project: Enhancing Asian-Pacific Collaboration

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeUp to 18
SponsorNational Taiwan University Hospital

About this trial

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

Qualifiers

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

Disqualifiers

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.

Trial design

Treatments tested in this trial

  • Genetic study with nanopore sequencing

Treatment groups

No treatment groups listed