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

NCT05337462 | Unknown

• 1 other identifier: 2020/143
• Study Type: observational
• Target: 30
• Locations: 1 country
• Sites: 2

Brief 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.

Conditions

Rare Diseases

Keywords

Rare Diseases; Whole Genome Sequencing

Outcome Measures

Primary Outcomes (2)

• Diagnostic yield

  \# of molecular diagnostic / total # of probands in percentage

  7 days

• Turn-around time

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

  One week

Secondary Outcomes (2)

• Correlation with clinical diagnostic

  one week

• Guidance to disease management

  One month after the results are returned

Eligibility Criteria

• Age: 1 Day - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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),
• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Liege: lead

Study Sites (2)

Centre Hospitalier Régional de la Citadelle

Liège, 4000, Belgium

RECRUITING

CHC Mont-Légia

Liège, 4000, Belgium

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Remaining DNA samples are stored in the Biobank fo the University Hospitals of Liège.

MeSH Terms

Conditions

Rare Diseases

Condition Hierarchy (Ancestors)

Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• AIME LUMAKA, MD, PhD

  Centre Hospitalier Universitaire de Liege

  PRINCIPAL INVESTIGATOR

Central Study Contacts

AIME LUMAKA, MD, PhD

CONTACT

+3243664720; aime.lumaka@uliege.be

VINCENT BOURS, MD, PhD

CONTACT

+3243668144; vbours@uliege.be

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Doctor

Study Record Dates

• First Submitted: April 14, 2022
• First Posted: April 20, 2022
• Study Start: February 8, 2021
• Primary Completion: December 1, 2022
• Study Completion: December 1, 2022
• Last Updated: April 26, 2022

Record last verified: 2022-04

Data Sharing

• IPD Sharing: Will not share

Locations

BE (2)