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
This trial does not accept healthy volunteersQualifiers
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 population
Infants or newborns under 18 months of age admitted to the ICU with a high suspicion of a genetic disease.
Trial design
Design model
Other
Time perspective
Prospective
Treatments tested in this trial
Genetic study with nanopore sequencing
Diagnostic testThe 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.
Treatment groups
No treatment groups listed
Trial outcomes
Primary outcomes
1
Positive yield rate
The percentage of individuals who test positive among the long-read sequencing exam
Time frame
9 days after enrollmentSponsors and contacts
Click on the lead sponsor to view all of their trials.
Source ClinicalTrials.gov