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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details. Identifier: NCT03956069
Recruitment Status : Not yet recruiting
First Posted : May 20, 2019
Last Update Posted : May 20, 2019
Information provided by (Responsible Party):
Centre Hospitalier Universitaire Dijon

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

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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
Estimated Study Start Date : September 2019
Estimated Primary Completion Date : September 2021
Estimated Study Completion Date : September 2021

Intervention Details:
  • Biological: blood sample
    for patient and its parents
  • Genetic: genome sequencing
    whole genome sequencing

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

Information from the National Library of Medicine

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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

Inclusion Criteria:

  • Children 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

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)

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 identifier (NCT number): NCT03956069

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Contact: Arthur SORLIN ext +33

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Chu Dijon Bourgogne Not yet recruiting
Dijon, France, 21000
Contact: Arthur SORLIN ext +33   
Contact: Christel THAUVIN ext +33   
Sponsors and Collaborators
Centre Hospitalier Universitaire Dijon

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Responsible Party: Centre Hospitalier Universitaire Dijon Identifier: NCT03956069     History of Changes
Other Study ID Numbers: SORLIN PHRCI 2018
First Posted: May 20, 2019    Key Record Dates
Last Update Posted: May 20, 2019
Last Verified: May 2019

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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
Disease Attributes
Pathologic Processes