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

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ClinicalTrials.gov Identifier: NCT03831035
Recruitment Status : Recruiting
First Posted : February 5, 2019
Last Update Posted : April 22, 2020
Sponsor:
Information provided by (Responsible Party):
University Hospital, Montpellier

Study Description
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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. 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).


Condition or disease Intervention/treatment
Infant, Newborn, Diseases Congenital Malformations Intensive Care Unit Neurologic Symptoms Other: Genetic analyse by whole exome sequencing

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 Design
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Study Type : Observational
Estimated Enrollment : 45 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
Actual Study Start Date : April 8, 2019
Estimated Primary Completion Date : December 2021
Estimated Study Completion Date : March 2022
Groups and Cohorts
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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.


Outcome Measures
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Primary Outcome Measures :
  1. 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


Secondary Outcome Measures :
  1. 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

  2. Diagnosis yield : identification of the etiology [ Time Frame: 3 months ]
    number of days between the collect sample and diagnostic confirmation

  3. 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

  4. Quantity of blood necessary to achieve diagnosis [ Time Frame: 16 days maximum after inclusion ]
    blood volume necessary to achieve diagnosis

  5. Quantity of blood necessary to achieve diagnosis [ Time Frame: 16 days maximum after inclusion ]
    number of samples necessary to achieve diagnosis

  6. duration of hospital stay in the year following inclusion [ Time Frame: a year after inclusion ]
    number of days of hospital stay in the year

  7. number of medical consultations in the year following inclusion [ Time Frame: a year after inclusion ]
    number of medical consultations in the year


Biospecimen Retention:   Samples With DNA
It is a 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.

Eligibility Criteria
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Ages Eligible for Study:   up to 12 Months   (Child)
Sexes Eligible for Study:   All
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
Criteria

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
Contacts and Locations
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Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03831035


Contacts
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Contact: Marjolaine WILLEMS, MD +33467336564 m-willems@chu-montpellier.fr
Contact: Mouna BARAT, PharmD, PhD 0467336152 mouna.barat@inserm.fr

Locations
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France
Medical genetics Arnaud de Villeneuve Recruiting
Montpellier, Hérault, France, 34295
Contact: Marjolaine WILLEMS, MD    +33467336564    m-willems@chu-montpellier.fr   
Contact: Mouna BARAT, PhD    0467336152    mouna.barat@inserm.fr   
Sponsors and Collaborators
University Hospital, Montpellier
Investigators
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Principal Investigator: Marjolaine WILLEMS Medical genetics Arnaud de Villeneuve
More Information
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Publications of Results:

Other Publications:

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Responsible Party: University Hospital, Montpellier
ClinicalTrials.gov Identifier: NCT03831035    
Other Study ID Numbers: RECHMPL17_0387
First Posted: February 5, 2019    Key Record Dates
Last Update Posted: April 22, 2020
Last Verified: April 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by University Hospital, Montpellier:
Fast trio exome
Multiple congenital malformation
Intensive care unit
Neurological distress
Additional relevant MeSH terms:
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Neurologic Manifestations
Congenital Abnormalities
Infant, Newborn, Diseases
Nervous System Diseases