Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in

Status Recruiting

Clinical Trial Summary

Prospective, multi-site, non-randomized (single arm) study to evaluate the feasibility, the yield and clinical utility of trio WGS in 30 critically ill patients in neonatology intensive care units (NICU) and pediatric intensive care units (PICU) in Belgium. Results are expected to be returned within 7 days after receipt of blood samples in the laboratory. Primary outcome will be evaluated after clinical interpretation, whereas secondary outcome will be evaluated from the clinical utility survey to be completed by clinical geneticists.

Clinical Trial Description

This is a prospective, multi-site, non-randomized (single arm) study to evaluate the feasibility, the yield and clinical utility of trio WGS in critically ill patients in neonatology intensive care units (NICU) and pediatric intensive care units (PICU) in Belgium. Each proband responding to our eligibility criteria will receive a trio WGS. Blood samples from enrolled probands and their parents will be collected and shipped to the Laboratoire de Génétique Humaine, University of Liège, Liège, Belgium, which is a research facility. Blood samples will be lysed using the Illumina Lysis Kit. Lysis product will be used for library preparation with Illumina DNA PCR-Free Prep, Tagmentation library preparation kit and IDT® for Illumina® DNA/RNA Unique Dual Indexes Set A, Tagmentation. Pooled libraries will be sequenced on a NovaSeq 6000. Sequencing data will be automatically transferred to Cloud Space (BaseSpace Sequence Hub) were primary bioinformatic analysis will be performed upon completion of sequencing and data transfer. Annotated variant calling files for SNVs and CNVs will be analyzed with Moon (Invitae) and in-house bioinformatic analysis solutions. Clinical interpretation will be performed by the principal investigator. WGS results were communicated to pediatrician. The clinical utility survey was filled by clinical geneticists at least a month after the return of sequencing results. ;

Study Design

Related Conditions & MeSH terms

Rare Diseases

Clinical Trial Details

NCT number	NCT05337462
Study type	Observational
Source	Centre Hospitalier Universitaire de Liege
Contact	AIME LUMAKA, MD, PhD
Phone	+3243664720
Email	aime.lumaka@uliege.be
Status	Recruiting
Phase
Start date	February 8, 2021
Completion date	December 2022

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Clinical trials are conducted in a series of steps, called phases - each phase is designed to answer a separate research question.

Phase 1: Researchers test a new drug or treatment in a small group of people for the first time to evaluate its safety, determine a safe dosage range, and identify side effects.
Phase 2: The drug or treatment is given to a larger group of people to see if it is effective and to further evaluate its safety.
Phase 3: The drug or treatment is given to large groups of people to confirm its effectiveness, monitor side effects, compare it to commonly used treatments, and collect information that will allow the drug or treatment to be used safely.
Phase 4: Studies are done after the drug or treatment has been marketed to gather information on the drug's effect in various populations and any side effects associated with long-term use.

Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium — rWGS_v3

Clinical Trial Summary

Clinical Trial Description

Study Design

Related Conditions & MeSH terms