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

NCT03831035 | Completed

• 1 other identifier: RECHMPL17_0387
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 1

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).

Conditions

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

Keywords

Fast trio exome; Multiple congenital malformation; Intensive care unit; Neurological distress

Outcome Measures

Primary Outcomes (1)

• Yield of exome results given to the family before 16 days

  number of days between the collect sample and results

  16 days maximum after inclusion

Secondary Outcomes (7)

• Duration of each step until the results (the analytical step, the bioinformatic step, the interpretation step).

  16 days maximum after inclusion

• Diagnosis yield : identification of the etiology

  3 months

• Adjustment of medical care allowed by the exome diagnosis

  16 days maximum after inclusion

• Quantity of blood necessary to achieve diagnosis

  16 days maximum after inclusion

• Quantity of blood necessary to achieve diagnosis

  16 days maximum after inclusion

Study Arms (1)

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

Interventions

Genetic analyse by whole exome sequencing OTHER

Exome sequencing requires analytic, bio informatic and interpretation steps.

15 patients and both parents.

Eligibility Criteria

• Age: 1 Day - 12 Months
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• 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

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• University Hospital, Montpellier: lead

Study Sites (1)

Medical genetics Arnaud de Villeneuve

Montpellier, Hérault, 34295, France

Location

Related Publications (29)

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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.

MeSH Terms

Conditions

Infant, Newborn, Diseases; Congenital Abnormalities; Neurologic Manifestations

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Signs and Symptoms; Pathological Conditions, Signs and Symptoms

Study Officials

• Marjolaine WILLEMS

  Medical genetics Arnaud de Villeneuve

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2019
• First Posted: February 5, 2019
• Study Start: April 8, 2019
• Primary Completion: June 8, 2022
• Study Completion: June 8, 2022
• Last Updated: November 28, 2023

Record last verified: 2023-11

Locations

FR (1)