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Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit

NCT03831035 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2023-11-28

No results posted yet for this study

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. However, etiologies are various and each of them is individually very rare. Thanks to next-generation sequencing technologies, diagnosis time frames have drastically decreased and the investigators have observed an increase in diagnosis yields.

This study aims to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and the consultation for results to the parents) in infants under the age of 12 months hospitalized in Intensive Care Unit (ICU).

Conditions

  • Infant, Newborn, Diseases
  • Congenital Malformations
  • Intensive Care Unit
  • Neurologic Symptoms

Interventions

OTHER

Genetic analyse by whole exome sequencing

Exome sequencing requires analytic, bio informatic and interpretation steps.

Sponsors & Collaborators

  • University Hospital, Montpellier

    lead OTHER

Principal Investigators

  • Marjolaine WILLEMS · Medical genetics Arnaud de Villeneuve

Eligibility

Min Age
1 Day
Max Age
12 Months
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2019-04-08
Primary Completion
2022-06-08
Completion
2022-06-08

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03831035 on ClinicalTrials.gov