Status:
COMPLETED
Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
Lead Sponsor:
University Hospital, Montpellier
Conditions:
Infant, Newborn, Diseases
Congenital Malformations
Eligibility:
All Genders
1-12 years
Brief Summary
An early diagnosis of congenital malformations and suspected genetic conditions in critically ill infants is essential to perform specific adapted care, prevention, and give proper genetic counseling....
Detailed Description
This prospective study is the first French study aiming to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and consultation for results pre...
Eligibility Criteria
Inclusion
- Infant aged under 12 months , hospitalized in the ICU.
- Infant with multiple congenital malformations or neurological symptoms for which a genetic origin is suspected but undiagnosed genetically.
- Infant for whom both biological parents have given consent for the study, genetic analysis for themselves anf their child.
- Infant and parents registered in the French National health service
Exclusion
- Absence of one or both parental sample.
- Precise genetic diagnosis made pre- or post-natally with chromosomal (I.e : Down syndrome), Sanger (i.e : infantile spinal amyotrophia) methylation (i.e : Prader-Willi syndrome) or triplet amplification (I.e : neonatal Steinert myotonia) studies.
- Strong clinical evidence for a with chromosomal (I.e : Down syndrome), Sanger (i.e : infantile spinal amyotrophia) methylation (i.e : Prader-Willi syndrome) or triplet amplification (I.e : neonatal Steinert myotonia) studies.
- Impossibility for one or both parents to give his or her consent
Key Trial Info
Start Date :
April 8 2019
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
June 8 2022
Estimated Enrollment :
45 Patients enrolled
Trial Details
Trial ID
NCT03831035
Start Date
April 8 2019
End Date
June 8 2022
Last Update
November 28 2023
Active Locations (1)
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1
Medical genetics Arnaud de Villeneuve
Montpellier, Hérault, France, 34295