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Trial details imported from ClinicalTrials.gov
For full trial details, please see the original record at
https://clinicaltrials.gov/study/NCT06081075
Registration number
NCT06081075
Ethics application status
Date submitted
29/06/2023
Date registered
12/10/2023
Titles & IDs
Public title
Newborn Genomics Programme
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Scientific title
Newborn Genomics Programme
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Secondary ID [1]
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LIG-2301
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Universal Trial Number (UTN)
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Trial acronym
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Linked study record
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Health condition
Health condition(s) or problem(s) studied:
Genetic Disease
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Newborn Morbidity
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Condition category
Condition code
Human Genetics and Inherited Disorders
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Other human genetics and inherited disorders
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Intervention/exposure
Study type
Observational
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Patient registry
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Target follow-up duration
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Target follow-up type
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Description of intervention(s) / exposure
Other interventions - Genetic testing
Acutely ill neonates with suspected genetic condition, without a clear non-genetic aetiology -
Other interventions: Genetic testing
Rapid whole genome sequencing
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Intervention code [1]
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Other interventions
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Comparator / control treatment
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Control group
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Outcomes
Primary outcome [1]
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To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern
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Assessment method [1]
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Timepoint [1]
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June 2025
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Primary outcome [2]
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To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders.
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Assessment method [2]
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Timepoint [2]
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June 2025
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Primary outcome [3]
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To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children.
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Assessment method [3]
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Timepoint [3]
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June 2025
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Eligibility
Key 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
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Minimum age
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Hours
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Maximum age
2
Years
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Sex
Both males and females
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Can healthy volunteers participate?
No
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Key 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
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Study design
Purpose
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Duration
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Selection
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Timing
Prospective
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Statistical methods / analysis
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Recruitment
Recruitment status
Recruiting
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Data analysis
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Reason for early stopping/withdrawal
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Other reasons
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Date of first participant enrolment
Anticipated
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Actual
15/01/2024
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Date of last participant enrolment
Anticipated
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Actual
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Date of last data collection
Anticipated
1/06/2025
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Actual
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Sample size
Target
500
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Accrual to date
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Final
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Recruitment in Australia
Recruitment state(s)
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Recruitment outside Australia
Country [1]
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New Zealand
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State/province [1]
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Auckland
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Funding & Sponsors
Primary sponsor type
Other
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Name
Liggins Institute
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Address
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Country
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Ethics approval
Ethics application status
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Summary
Brief summary
Genomic methods can significantly contribute to all facets of precision medicine, from diagnosis to prevention, therapeutic intervention, and management of acute and chronic illnesses. DNA based methods are already having a considerable impact across healthcare in fields that include: public health, infectious disease monitoring, acute and chronic disease, pharmacogenomics, prenatal testing and diagnosis, and therapeutic development. In this proposal, investigators are focusing on the application of genomic methods in precision medicine - specifically on rapid whole-genome sequencing of parents and children (i.e. a trio) for the identification of diseases that have genetic components. Goals Primary goal: is to provide safe rapid whole genome sequencing to Neonatal Intensive Care Unit/Pediatric Intensive Care Unit patients. Secondary goals: 1) Although several groups globally are implementing rapid sequencing of rare disease, these are predominantly in the research space, with many unanswered questions regarding the best way to implement them into a national healthcare system. Each country and their healthcare systems are unique, and valuable knowledge will be gained by implementing this process within a New Zealand context. As part of this the study will measure the impact on the individuals and families. 2) to expand the research team's understanding of non-coding disease-causing variants and methylation changes that contribute to severe disease in early life. Primary Aims 1. To incorporate long-read RNA sequencing data into the diagnostic rapid Whole Genome Sequencing pipeline to provide a direct measure of the functional outcome of the variants of clinical concern. 2. To measure the clinical utility of analysing non-coding variants in the diagnosis of critically ill children who do not have pathogenic, likely pathogenic, or variants of unknown significance for mendelian disorders. 3. To identify, in a real-world setting within the New Zealand health-care system, the clinical and economic effects of deploying rapid Whole Genome Sequencing-informed rapid precision medicine for critically ill children.
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Trial website
https://clinicaltrials.gov/study/NCT06081075
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Trial related presentations / publications
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Public notes
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Contacts
Principal investigator
Name
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Address
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Country
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Phone
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Fax
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Email
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Contact person for public queries
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Address
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Fax
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Contact person for scientific queries
Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
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No/undecided IPD sharing reason/comment
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What supporting documents are/will be available?
No Supporting Document Provided
Results publications and other study-related documents
No documents have been uploaded by study researchers.
Results not provided in
https://clinicaltrials.gov/study/NCT06081075