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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
Scientific title
Newborn Genomics Programme
Secondary ID [1] 0 0
LIG-2301
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Genetic Disease 0 0
Newborn Morbidity 0 0
Condition category
Condition code
Human Genetics and Inherited Disorders 0 0 0 0
Other human genetics and inherited disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
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
Intervention code [1] 0 0
Other interventions
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
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
Timepoint [1] 0 0
June 2025
Primary outcome [2] 0 0
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.
Timepoint [2] 0 0
June 2025
Primary outcome [3] 0 0
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.
Timepoint [3] 0 0
June 2025

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
Minimum age
0 Hours
Maximum age
2 Years
Sex
Both males and females
Can healthy volunteers participate?
No
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

Study design
Purpose
Duration
Selection
Timing
Prospective
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
15/01/2024
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/06/2025
Actual
Sample size
Target
500
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment outside Australia
Country [1] 0 0
New Zealand
State/province [1] 0 0
Auckland

Funding & Sponsors
Primary sponsor type
Other
Name
Liggins Institute
Address
Country

Ethics approval
Ethics application status

Summary
Brief summary
Trial website
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Address 0 0
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for scientific queries

Data sharing statement
Will individual participant data (IPD) for this trial be available (including data dictionaries)?
No
No/undecided IPD sharing reason/comment


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