Newborn Genomics Programme

Genetic Disease Clinical Trial

Official title:

Newborn Genomics Programme

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT06081075
• Other study ID #: LIG-2301
• Status: Recruiting
• Start date: January 15, 2024
• Est. completion date: June 2025

Study information

• Verified date: March 2024
• Source: Liggins Institute
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical 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. 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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 500
• Est. completion date: June 2025
• Est. primary completion date: December 2024
• Gender: All
• Age group: 0 Hours to 2 Years

Eligibility

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

Related Conditions & MeSH terms

• Genetic Disease
• Genetic Diseases, Inborn
• Newborn Morbidity

Intervention

Other:
• Genetic testing
Rapid whole genome sequencing

Locations

Country	Name	City	State
New Zealand	Auckland City Hospital	Auckland

Sponsors (1)

Lead Sponsor	Collaborator
Liggins Institute

Country where clinical trial is conducted

New Zealand, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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		June 2025
Primary	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.		June 2025
Primary	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.		June 2025