Genomic testing for newborns in intensive care
Newborn Genomics Programme
This study is testing a quick genetic test for sick newborns in intensive care to see if it can help find hidden genetic diseases that regular treatments don’t explain.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 0 Hours to 2 Years |
| Sex | All |
| Sponsor | Liggins Institute Academic / other |
| Locations | 1 site (Auckland) |
| Trial ID | NCT06081075 on ClinicalTrials.gov |
What this trial studies
This observational program focuses on the application of rapid whole-genome sequencing for acutely ill newborns admitted to Neonatal and Pediatric Intensive Care Units. The primary goal is to provide safe and efficient genomic testing to identify genetic diseases that may not have a clear non-genetic cause. By sequencing both parents and children, the program aims to enhance precision medicine approaches in diagnosing and managing genetic conditions. The study will run from April 2023 to March 2026, targeting patients who show abnormal responses to standard therapies.
Who should consider this trial
Good fit: Ideal candidates are acutely ill newborns admitted to NICU or PICU with suspected genetic conditions.
Not a fit: Patients whose clinical conditions are fully explained by non-genetic factors or have a previously confirmed genetic diagnosis may not benefit from this program.
Why it matters
Potential benefit: If successful, this program could lead to quicker and more accurate diagnoses of genetic conditions in newborns, improving treatment outcomes.
How similar studies have performed: While rapid sequencing for rare diseases is being explored globally, this specific approach in a clinical setting is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Acutely ill inpatient * Admitted to NICU or PICU between April 2023 - March 2026 * Within 1 week of hospitalization or within 1 week of development of abnormal response to standard therapy for an underlying condition * Suspected genetic condition, without a clear non-genetic aetiology Exclusion Criteria: * Patients whose clinical course is entirely explained by * Isolated prematurity * Isolated unconjugated hyperbilirubinemia * Infection or sepsis with expected response to therapy * A previously confirmed genetic diagnosis that explains the clinical condition - * Isolated transient neonatal tachypnoea * Meconium aspiration syndrome * Trauma * Inability to source blood and buccal samples for DNA extraction from at least the mother and child
Where this trial is running
Auckland
- Auckland City Hospital — Auckland, New Zealand (Recruiting)
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.