Critical Care, Intensive Care, Genetic Disease, Nanopore Sequencing, Whole Genome Sequencing
Conditions
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.
Detailed description
A group of individuals with specific characteristics was selected. Genetic studies were arranged for participants who provided their consent.
Interventions
DIAGNOSTIC_TESTGenetic study with nanopore sequencing
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.
Sponsors
National Taiwan University Hospital
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Months
Healthy volunteers
No
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Positive yield rate | 9 days after enrollment | The percentage of individuals who test positive among the long-read sequencing exam |
Countries
Taiwan
Contacts
Primary ContactNi-Chung Lee, MDPhD
Outcome results
None listed