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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT06081075




Registration number
NCT06081075
Ethics application status
Date submitted
29/06/2023
Date registered
12/10/2023
Date last updated
13/03/2024

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?
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
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.
Trial website
https://clinicaltrials.gov/ct2/show/NCT06081075
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



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT06081075