Clinical Trials Logo

Clinical Trial Details — Status: Recruiting

Administrative data

NCT number NCT06081075
Other study ID # LIG-2301
Secondary ID
Status Recruiting
Phase
First received
Last updated
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
Health authority
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
Accepts healthy volunteers
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

Study Design


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
See also
  Status Clinical Trial Phase
Active, not recruiting NCT03548779 - North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2 N/A
Completed NCT03292302 - Phase 1 Study of ELX-02 in Healthy Adults Phase 1
Withdrawn NCT03658382 - Virtual Visits for Results Disclosure N/A
Recruiting NCT02266615 - Biobank Clinical Genetics Maastricht (KG01)
Recruiting NCT02450851 - Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Recruiting NCT05472714 - Educational Video for Genetic Testing N/A
Recruiting NCT04285814 - Technology Development for Noninvasive Prenatal Genetic Diagnosis Using Whole Fetal Cells From Maternal Peripheral Blood
Completed NCT05443113 - Young Pectus Excavatum Patients and Genetic Defects
Completed NCT05655741 - Modified Delphi for Genomic Bereavement Care
Completed NCT03847909 - A Study to Evaluate DCR-PHXC in Children and Adults With Primary Hyperoxaluria Type 1 and Primary Hyperoxaluria Type 2 Phase 2
Completed NCT04584528 - Implementing an Individualized Pain Plan (IPP) for ED Treatment of VOE's in Sickle Cell Disease N/A
Not yet recruiting NCT06048523 - Prospective Cohort Study of Neurogenetic Diseases N/A
Completed NCT02225522 - Genomic Sequencing in Acutely Ill Neonates N/A
Enrolling by invitation NCT06089954 - Penn Medicine Biobank Return of Results Program N/A
Completed NCT03713333 - Implementing Digital Health in a Learning Health System N/A
Completed NCT03309605 - Phase 1 Study of ELX-02 in Healthy Adult Subjects Phase 1
Recruiting NCT05499091 - Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN N/A
Completed NCT04556487 - Turkish Affordances in the Home Environment for Motor Development-Infant Scale (AHEMD-IS)
Completed NCT04556500 - Turkish Version of the Affordance in the Home Environment for Motor Development-Toddler (AHEMD-T)
Recruiting NCT02551081 - Genomic Sequencing and Personalized Treatment for Birth Defects in Neonatal Intensive Care Units