Genomic testing for newborns in intensive care

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Auckland City Hospital
  Auckland, New Zealand Recruiting

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Newborn whole-genome sequencing and genetic disease risk in pregnancy and early life

  This project will collect small biological samples from pregnant families and newborns to try whole-genome sequencing and other multi-omics tests to find genetic disease risks.

  Recruiting Women's Hospital School Of Medicine Zhejiang University · Hangzhou, Zhejiang · NCT07365254

• Multicenter study of SHANK3-related Phelan-McDermid syndrome genetic modifiers

  Researchers are testing how other genes may modify the PMS clinical picture in people with SHANK3-related deletions or variants.

  Recruiting Assistance Publique - Hôpitaux de Paris · Paris, Ap-hp / DRCI · NCT07119606

• Prenatal cfDNA Screening in Pregnancies with Diverse Genetic Risk Profiles

  This study tests two cfDNA approaches from a single maternal blood sample to see if they can detect a wide range of fetal genetic conditions in pregnant people with various risk factors.

  Recruiting at 2 sites Women's Hospital School Of Medicine Zhejiang University · Hangzhou, Zhejiang and 1 other locations · NCT07106853

• Natural history of type I interferonopathies in a European patient group

  This project will follow people with genetically confirmed type I interferonopathies across European centers to see how the disease develops and which clinical and blood markers track disease activity.

  Recruiting at 18 sites Imagine Institute · Innsbruck and 31 other locations · NCT07040774

• Speech-generating device to help communication in childhood dementia

  This project will test whether giving children with childhood dementia a speech-generating iPad app helps them communicate better than their usual care.

  Recruiting Murdoch Childrens Research Institute · Melbourne, Victoria · NCT07039084

• Using AI to enhance cardiology patient care

  This study is testing if using AI tools can help cardiologists make better decisions when treating patients with heart conditions compared to traditional methods.

  Recruiting Stanford University · Palo Alto, California · NCT06935253

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.