Enhancing collaboration for genetic disease diagnosis in critically ill infants
N-Care Project: Enhancing Asian-Pacific Collaboration
National Taiwan University Hospital · NCT06821386
This study is testing whether a new genetic testing method can help doctors quickly diagnose genetic diseases in critically ill infants to provide them with the right treatment sooner.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 70 (estimated) |
| Ages | N/A to 18 Months |
| Sex | All |
| Sponsor | National Taiwan University Hospital (other) |
| Locations | 1 site (Taipei) |
| Trial ID | NCT06821386 on ClinicalTrials.gov |
What this trial studies
This observational study focuses on utilizing third-generation genome sequencing to rapidly diagnose genetic diseases in critically ill infants and young children through multinational collaboration in the Asia-Pacific region. Participants, who are infants under 18 months admitted to intensive care, will undergo genetic studies using nanopore sequencing after providing consent. The goal is to achieve early diagnosis for targeted treatment, particularly for those with specific anomalies suggestive of genetic conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are infants and young children under 18 months who are admitted to an intensive care unit with specific genetic condition indicators.
Not a fit: Patients with definitive non-genetic diagnoses or those whose clinical course can be explained without genetic testing may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could lead to faster and more accurate diagnoses of genetic diseases in critically ill infants, enabling timely and targeted treatments.
How similar studies have performed: Other studies utilizing genome sequencing for rapid diagnosis in critically ill patients have shown promise, indicating that this approach may be effective.
Eligibility criteria
Show full inclusion / exclusion 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 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.
Where this trial is running
Taipei
- National Taiwan University Hospital — Taipei, Taiwan (RECRUITING)
Study contacts
- Study coordinator: Ni-Chung Lee, MDPhD
- Email: ncleentu@ntu.edu.tw
- Phone: +886-2-23123456
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Whole Genome Sequencing, Genetic Disease, Critical Care, Intensive Care, Nanopore Sequencing