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Study of the Diagnostic Value of "Rapid" High Throughput Genome Sequencing Analysis in Diagnostic Emergency Situations (FASTGEN)

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ClinicalTrials.gov Identifier: NCT03956069
Recruitment Status : Recruiting
First Posted : May 20, 2019
Last Update Posted : September 10, 2020
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

Study Description
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Brief Summary:

Rare diseases (affecting less than one in 2,000 people) are a major public health issue. There are about 8,000 rare diseases and they affect more than 3 million people in France. Most of these diseases are diagnosed in children, and they are responsible for 10% of deaths before the age of 5. Up to 80% of these diseases are believed to be of genetic origin. New generation high throughput sequencing (HTS) technologies, which allow the study of an individual's entire genome, have emerged in recent years as a tool of choice for the study of rare diseases. Our team was the first in France to demonstrate the value of exome sequencing (ES: all coding regions (exons), representing 1% of the total genome size) in the diagnosis of severe diseases in pediatric patients, developmental anomalies and intellectual disability.

Although it represents a significant advance in the diagnosis of genetic diseases, ES provides a contributing result in only about 30% of cases in patients with no obvious clinical diagnosis and with normal CGH-array. Sequencing the entire genome (GS) promises to improve the ability to study the causes of genetic diseases, with an expected diagnostic rate of 50 to 60% through the concomitant identification of point variations, CNVs and structural variations. While some international teams have already implemented GS in the diagnosis of rare diseases, only two teams report the use of trio GS in emergency situations in the neonatal period, with a low yield for first-line diagnostic use (31 and 42% respectively). It is therefore essential that these preliminary results be compared with other studies before considering the deployment of GS in diagnostic, early detection or rapidly evolving emergency situations, such as neonatal resuscitation or pediatric neurological distress.


Condition or disease Intervention/treatment
Developmental Anomalies Biological: blood sample Genetic: genome sequencing

Study Design
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Study Type : Observational
Estimated Enrollment : 55 participants
Observational Model: Family-Based
Time Perspective: Prospective
Official Title: Study of the Diagnostic Value of "Rapid" High Throughput Genome Sequencing Analysis in Diagnostic Emergency Situations
Actual Study Start Date : June 23, 2020
Estimated Primary Completion Date : June 2022
Estimated Study Completion Date : February 2023
Groups and Cohorts
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Intervention Details:
  • Biological: blood sample
    for patient and its parents
  • Genetic: genome sequencing
    whole genome sequencing

Outcome Measures
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Primary Outcome Measures :
  1. identification of a causal diagnosis [ Time Frame: Through study completion, an average of 2 years ]
    identification of genetic etiology


Eligibility Criteria
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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
child with a suspected genetic disease without an obvious clinical diagnosis and both biological parents
Criteria

Inclusion Criteria:

  • Children (0-6 years old) hospitalized in neonatal intensive care or pediatric intensive care with a suspected genetic disease and without an obvious clinical diagnosis
  • Possibility of taking the proband and their 2 biological parents
  • Parents affiliated to or beneficiaries of the national health insurance system
  • Informed consent signed by the legal representatives of the minor patient
  • Ability to understand the study for both biological parents

Exclusion Criteria:

  • Diagnostic hypothesis considered highly probable with an available molecular test having a lower cost than GS
  • Individuals who have already had high throughput sequencing (panel, ES)
  • Parents protected
  • Families where one of the two holders of parental authority is not a biological parent
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): NCT03956069


Contacts
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Contact: Arthur SORLIN 03.80.29.53.13 ext +33 arthur.sorlin@chu-dijon.fr

Locations
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France
Chu Dijon Bourgogne Recruiting
Dijon, France, 21000
Contact: Arthur SORLIN    03.80.29.53.13 ext +33    arthur.sorlin@chu-dijon.fr   
Contact: Christel THAUVIN    03.80.29.53.13 ext +33    christel.thauvin@chu-dijon.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon
More Information
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Responsible Party: Centre Hospitalier Universitaire Dijon
ClinicalTrials.gov Identifier: NCT03956069    
Other Study ID Numbers: SORLIN PHRCI 2018
First Posted: May 20, 2019    Key Record Dates
Last Update Posted: September 10, 2020
Last Verified: September 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Congenital Abnormalities
Emergencies
Disease Attributes
Pathologic Processes