Genetic DiseaseNCT06081075
Newborn Genomics Programme
An observational study of Genetic Disease and Newborn Morbidity, run by Liggins Institute at 1 site in New Zealand.
Trial 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. Read more about this study
- Who is it for?
- Ages 0 hours to 2 years
- Conditions the study is for
- Genetic Disease, Newborn Morbidity
- What is being tested?
- Genetic testing
- How many people
- 500 participants
- Where
- 1 siteNew Zealand
- Study dates
- 15 Jan 2024to Dec 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 0 hours to 2 years
- All sexes
- No healthy volunteers
- Child
Study population: Children with suspected genetic conditions, and their families, will be recruited into the study from within the neonatal and paediatric intensive care units (i.e. NICU and PICU, respectively) from around New Zealand
Who may be able to join
- 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
Who cannot join
- 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
Show all 9Show fewer
- Meconium aspiration syndrome
- Trauma
- Inability to source blood and buccal samples for DNA extraction from at least the mother and child
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
New Zealand1 site, 1 recruiting
- Recruiting
Auckland City Hospital
Auckland
Jodi Van Dyk, 021852051, jodi.van.dyk@auckland.ac.nz
Patrick Yap, MBChB
About this study
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.
Read more
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.
- 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
- 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.
- 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.
- 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.
- Conditions
- Genetic Disease, Newborn Morbidity
- Being tested
- Genetic testing
- Medical subject headings
- Genetic Diseases, Inborn
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Genetic testingOther
Rapid whole genome sequencing
| Study group | Role | What they receive |
|---|---|---|
| Acutely ill neonates with suspected genetic condition, without a clear non-genetic aetiology | Not described Receives: Other: Genetic testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: June 2025
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.
Measured: June 2025
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.
Measured: June 2025
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted12 Oct 2023
- Study start15 Jan 2024
- Primary completionDec 2026 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Genetic DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 500 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Liggins Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Justin O'Sullivan, Liggins Institute
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06081075
- Sponsor's protocol ID
- LIG-2301
- Status last verified
- May 2025
- First submitted
- 29 Jun 2023
- Last updated
- 7 May 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM. Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand. NPJ Genom Med. 2024 Nov 8;9(1):57. doi: 10.1038/s41525-024-00445-5.
PubMed 39516456
Study at a glance
From the registry record, last updated by the sponsor on 7 May 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Newborn Genomics Programme
- ClinicalTrials.gov ID
- NCT06081075
- Acronym / sponsor ID
- LIG-2301
- Conditions
- Genetic Disease, Newborn Morbidity
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 500 participants (estimated)
- Lead sponsor
- Liggins InstituteUniversity, hospital or other
- Study start
- 15 Jan 2024 (actual)
- Primary completion
- Dec 2026 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 12 Oct 2023 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
- 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
- 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.
- 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.
- 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.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Acutely ill neonates with suspected genetic condition, without a clear non-genetic aetiology | – | Other: Genetic testing |
Who may qualify
- Ages
- 0 hours to 2 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child
- Study population
- Children with suspected genetic conditions, and their families, will be recruited into the study from within the neonatal and paediatric intensive care units (i.e. NICU and PICU, respectively) from around New Zealand
Key inclusion criteria (4 listed)
- 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
Key exclusion criteria (9 listed)
- 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 -
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Genetic testingRapid whole genome sequencing | Other | Acutely ill neonates with suspected genetic condition, without a clear non-genetic aetiology |
Primary outcome
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
Time frame: June 2025
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.
Time frame: June 2025
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.
Time frame: June 2025
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 May 2025.
- Derived from this study: PubMed 39516456Nyaga DM, Tsai P, Gebbie C, Phua HH, Yap P, Le Quesne Stabej P, Farrow S, Rong J, Toldi G, Thorstensen E, Stark Z, Lunke S, Gamet K, Van Dyk J, Greenslade M, O'Sullivan JM. Benchmarking nanopore sequencing and rapid genomics feasibility: validation at a quaternary hospital in New Zealand. NPJ Genom Med. 2024 Nov 8;9(1):57. doi: 10.1038/s41525-024-00445-5.
- Individual participant dataSharing planned: No
Related trials for Genetic Disease
Active, not recruitingPhase 2
Safety and Efficacy of the PAINLESS Nerve Growth Factor CHF6467 in Optic Pathway Glioma (OPG)
Optic Pathway Glioma
Enrolling by invitationObservational study
Allergy, Asthma, and Atopic Eczema in Finland
Asthma, Asthma in Children
Enrolling by invitationObservational study
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Primary Immunodeficiency, DOCK8
RecruitingPhase 3
A Study to Evaluate the Safety and Efficacy of Oral Nizubaglustat (AZ-3102) in Late-infantile and Juvenile Forms of Niemann-Pick Type C Disease, GM1 Gangliosidosis or GM2 Gangliosidosis
Niemann-Pick Type C Disease, GM1 Gangliosidosis
RecruitingPhase 3
A Study to Investigate the Efficacy and Safety of Fitusiran Prophylaxis in Male Participants Aged 1 to Less Than 12 Years With Hemophilia A or B
Hemophilia
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Genetic Disease and Newborn Morbidity, run by Liggins Institute at 1 site in New Zealand.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 9 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 May 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in New Zealand. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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 (time frame: June 2025). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06081075, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 May 2025.