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Rare DiseasesrWGS_v3NCT05337462

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

An observational study of Rare Diseases, run by Centre Hospitalier Universitaire de Liege at 2 sites in Belgium.

Unknown status

Status not confirmed. The sponsor has not verified this record for over two years, so it may be out of date.

Official record
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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. Read more about this study

Who is it for?
Ages 1 day to 18 years
Conditions the study is for
Rare Diseases
How many people
30 participants
Where
2 sitesBelgium
Study dates
8 Feb 2021to Dec 2022
Phase
Observational
Are there results?
None posted in the registry

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 1 day to 18 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

Study population: All critically ill newborns of pediatric patients admitted in intensive care units of the participating institutions during the study period.

Who may be able to join

  • at least two major malformations involving two different systems
  • A specific malformation highly suggestive of a genetic etiology, including but not limited to any of the following abnormalities:
  • Choanal atresia,
  • Coloboma,
  • Hirschsprung's disease,
  • Meconium ileus (except in case of prematurity),
Show all 29Show fewer
  • Agenesis of the corpus callosum or Lissencephaly
  • An abnormal laboratory test suggesting a genetic disease or a complex metabolic phenotype, including but not limited to any of the following:
  • Conventional abnormal neonatal screening
  • Conjugated hyperbilirubinemia not due to total parental nutrition (TPN) cholestasis
  • Hyperammonemia
  • Lactic acidosis not due to poor perfusion
  • Refractory or severe hypoglycaemia
  • An abnormal response to standard treatment for a major underlying condition
  • Significant hypotonia
  • Persistent seizures
  • Infant with high-risk stratification on assessment of a Brief Resolved Unexplained Event (BRUE) with any of the following features :
  • Recurrent events without respiratory infection
  • Recurrent seizures observed
  • Unexplained cardiopulmonary resuscitation (CPR) required
  • Significantly abnormal biochemical status, including but not limited to electrolytes, bicarbonate or lactic acid, venous blood gases, glucose, or other tests suggestive of an inborn error of metabolism
  • Significantly abnormal electrocardiogram (ECG), including but not limited to possible channelopathies, arrhythmias, cardiomyopathies, myocarditis, or structural heart disease
  • Positive family history of:
  • Arrhythmia
  • BRUE at the brother
  • Developmental delay / mental retardation
  • Inborn error of metabolism or genetic disease without genetic diagnosis
  • Long QT Syndrome (LQTS)
  • Sudden unexplained death (including unexplained car accident or drowning) in first- or second-degree relatives before age 35, and especially as an infant.

Who cannot join

  • An infection with a normal response to treatment
  • A confirmed genetic diagnosis explaining the disease
  • Hypoxic ischemic encephalopathy (HIE) with a clear precipitating event
  • Isolated prematurity
  • Isolated transient tachypnea of the newborn (TTN)
  • Isolated unconjugated hyperbilirubinemia
  • Non-viable neonates
  • Entity of multifactorial cause or unknown genetic cause, including but not limited to any of the following: Sequence of amniotic bands, Isolated Pierre Robin sequence, Spina bifida

Trial locations and contacts

2 sites in 1 country.

AIME LUMAKA, MD, PhD contact

+3243664720

aime.lumaka@uliege.be

VINCENT BOURS, MD, PhD contact

+3243668144

vbours@uliege.be

Belgium2 sites, 2 recruiting

  • Centre Hospitalier Régional de la Citadelle

    Liège, 4000

    Vincent Rigo, MD, PhD, +3243674585, vincent.rigo@chuliege.be

    Serpil Alkan, MD, serpil.alkan@chuliege.be

    Recruiting

  • CHC Mont-Légia

    Liège, 4000

    André Mulder, MD, ANDRE.MULDER@CHC.BE

    Recruiting

Other trials in Belgium

About this study

Official title: Étude Pilote du Séquençage Rapide du génome Humain Des Patients sévèrement Malades Dans Les Soins Intensifs en pédiatrie

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.

Read the detailed 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.

Conditions
Rare Diseases
Keywords
Rare Diseases, Whole Genome Sequencing
Medical subject headings
Rare Diseases

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. Diagnostic yield

    # of molecular diagnostic / total # of probands in percentage

    Measured: 7 days

  2. Turn-around time

    The average time (in hours) from the sample reception in the laboratory to the electronic signature of the test report.

    Measured: One week

Secondary outcomes (2)

  1. Correlation with clinical diagnostic

    Percentage of clinical diagnostic confirmed by the WGS testing

    Measured: one week

  2. Guidance to disease management

    Percentage of patients in whom the disease management plan was adjusted based on the results of the WGS

    Measured: One month after the results are returned

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted20 Apr 2022
  2. Study start8 Feb 2021
  3. Primary completionDec 2022 (estimated)
  4. Study completionDec 2022 (estimated)

Resources

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
Case only
Time perspective
Prospective
Enrolment
30 participants (estimated)
IDs, dates and publications
ClinicalTrials.gov ID
NCT05337462
Sponsor's protocol ID
2020/143
Acronym
rWGS_v3
Status last verified
Apr 2022
First submitted
14 Apr 2022
Last updated
26 Apr 2022
Results posted
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
No: Deidentified and curated variant and limited phenotype information will be submitted to ClinVar. ClinVar is a freely accessible, public archive of reports of the relationships between human genomic variations and clinical phenotypes hosted by the National Center for Biotechnology Information (NCBI) and funded by Intramural National Institutes of Health (NIH) funding. No personal health information (PHI) or information identifying the participant or family will be submitted.

Questions about this trial

What is this clinical trial studying?

An observational study of Rare Diseases, run by Centre Hospitalier Universitaire de Liege at 2 sites in Belgium.

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 29 inclusion and 8 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: status not confirmed, as of the sponsor's last update on 26 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 2 sites in Belgium. 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?

Results are not available in the source record.

How can a doctor refer a patient or contact the research team?

Contact AIME LUMAKA, MD, PhD (+3243664720, aime.lumaka@uliege.be), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Diagnostic yield (time frame: 7 days). The study lists 2 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 NCT05337462.

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 26 Apr 2022.

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