Status:
UNKNOWN
Pilot Study of Rapid Whole Genome Sequencing of Severely Ill Patients in Pediatric Intensive Care in Belgium
Lead Sponsor:
Centre Hospitalier Universitaire de Liege
Conditions:
Rare Diseases
Eligibility:
All Genders
1-18 years
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 (NI...
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 un...
Eligibility Criteria
Inclusion
- 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
- 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.
Exclusion
- 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
Key Trial Info
Start Date :
February 8 2021
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
December 1 2022
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT05337462
Start Date
February 8 2021
End Date
December 1 2022
Last Update
April 26 2022
Active Locations (2)
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1
Centre Hospitalier Régional de la Citadelle
Liège, Belgium, 4000
2
CHC Mont-Légia
Liège, Belgium, 4000