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

November 27, 2023 updated by: University Hospital, Montpellier

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).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 presentation to the parents) in 15 infants under the age of 12 months hospitalized in the Intensive Care Unit. Included patients will have a year of follow-up examination.

The main evaluation criterion is the yield of exome results given to the family before 16 days. The secondary evaluation criteria are 1/ duration of each step until the results 2/ diagnosis yield : identification of the etiology 3/ adjustment of medical care allowed by the exome diagnosis 4/quantity of blood necessary to achieve diagnosis 5/ duration of hospital stay and number of medical consultations in the year following inclusion.

Exome sequencing will be performed on top of classical analysis ordinarily prescribed. Medical care will not be modified until exome results reception. After signature of informed consent, blood samples of the infant and both parents will be used for trio exome sequencing, which includes 3 steps : the analytical step (blood sample DNA extraction and high-throughput sequencing), the bioinformatic step, and the interpretation step.

The study includes four medical consultations:

1/consultation with a geneticist for inclusion, 2/consultation with a geneticist to give the exome results, 3/ consultation at 3 months after the results for the sanger-confirmation of the exome result, 4/ consultation at one year after the inclusion for medical follow-up.

Study Type

Observational

Enrollment (Actual)

45

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
    • Hérault
      • Montpellier, Hérault, France, 34295
        • Medical genetics Arnaud de Villeneuve

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 4 months (Child)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

This study includes 15 patients and both parents. The patients are aged 12 months or under hospitalized in the ICU suffering from multiple congenital malformations and/or neurologic symptoms

Description

Inclusion Criteria:

  • 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 Criteria:

  • 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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
15 patients and both parents.
The patients are aged 12 months or under hospitalized in the ICU suffering from multiple congenital malformations and/or neurologic symptoms.
Other: Genetic analyse by whole exome sequencing
Exome sequencing requires analytic, bio informatic and interpretation steps.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Yield of exome results given to the family before 16 days
Time Frame: 16 days maximum after inclusion
number of days between the collect sample and results
16 days maximum after inclusion

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Duration of each step until the results (the analytical step, the bioinformatic step, the interpretation step).
Time Frame: 16 days maximum after inclusion
number of days between the collect sample and results
16 days maximum after inclusion
Diagnosis yield : identification of the etiology
Time Frame: 3 months
number of days between the collect sample and diagnostic confirmation
3 months
Adjustment of medical care allowed by the exome diagnosis
Time Frame: 16 days maximum after inclusion
Any additions or deletions of a diagnostic exam, medical care specific to the diagnosed pathology or screening of a known complication
16 days maximum after inclusion
Quantity of blood necessary to achieve diagnosis
Time Frame: 16 days maximum after inclusion
blood volume necessary to achieve diagnosis
16 days maximum after inclusion
Quantity of blood necessary to achieve diagnosis
Time Frame: 16 days maximum after inclusion
number of samples necessary to achieve diagnosis
16 days maximum after inclusion
duration of hospital stay in the year following inclusion
Time Frame: a year after inclusion
number of days of hospital stay in the year
a year after inclusion
number of medical consultations in the year following inclusion
Time Frame: a year after inclusion
number of medical consultations in the year
a year after inclusion

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Montpellier

Investigators

  • Principal Investigator: Marjolaine WILLEMS, Medical genetics Arnaud de Villeneuve

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

April 8, 2019

Primary Completion (Actual)

June 8, 2022

Study Completion (Actual)

June 8, 2022

Study Registration Dates

First Submitted

January 18, 2019

First Submitted That Met QC Criteria

February 4, 2019

First Posted (Actual)

February 5, 2019

Study Record Updates

Last Update Posted (Actual)

November 28, 2023

Last Update Submitted That Met QC Criteria

November 27, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RECHMPL17_0387

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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