N-Care Project: Enhancing Asian-Pacific Collaboration
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genetic study with nanopore sequencing.
- Who it may be relevant to
- Registry conditions: Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care, Nanopore Sequencing. Basic parameters: up to 18 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Taiwan
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Overview
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 test Genetic 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.
Primary outcome measures
- Positive yield rate [Time frame: 9 days after enrollment]
Eligibility criteria
Inclusion criteria
- 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
- 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
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Other
Study locations
Taiwan · 1 center
- National Taiwan University Hospital — Taipei
Identifiers
NCT: NCT06821386 · 202412119RINA