<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT03287193</url>
  </required_header>
  <id_info>
    <org_study_id>OLIVIER-FAIVRE 2016</org_study_id>
    <nct_id>NCT03287193</nct_id>
  </id_info>
  <brief_title>Identification of the Molecular and/or Pathophysiological Bases of Developmental Diseases</brief_title>
  <acronym>DISCOVERY</acronym>
  <official_title>Identification of the Molecular and/or Pathophysiological Bases of Developmental Diseases</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Centre Hospitalier Universitaire Dijon</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Centre Hospitalier Universitaire Dijon</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Developmental diseases include more than 3000 diseases and can associate organ malformation,&#xD;
      dysmorphism, development disorders and/or intellectual deficiency. Even though the&#xD;
      considerable effort in the search for genes in the last 20 years has led to the&#xD;
      identification of thousands of genes associated with Mendelian diseases, half of the&#xD;
      individuals with severe development anomalies remain without a genetic diagnosis. It is&#xD;
      important to pursue the ambition to contribute to the goal fixed by Europe, namely the&#xD;
      identification of the large majority of genes responsible for rare diseases with development&#xD;
      anomalies, and to be able to provide genetic counselling to patients and their families. In&#xD;
      the past, scientific research to discover genes required a large number of families and&#xD;
      individuals and was slow and expensive to carry out. Today, this approach has been&#xD;
      facilitated by next generation sequencing.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">March 13, 2017</start_date>
  <completion_date type="Anticipated">December 2027</completion_date>
  <primary_completion_date type="Anticipated">March 2027</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Number of new genes identified.</measure>
    <time_frame>through study completion, an average of 5 years</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">850</enrollment>
  <condition>Developmental Anomalies</condition>
  <intervention>
    <intervention_type>Biological</intervention_type>
    <intervention_name>Blood sample</intervention_name>
    <description>for patient and its parents</description>
  </intervention>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>high-throughput sequencing</intervention_name>
    <description>exome or whole genome sequencing</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Patients followed at the Centre de Référence Anomalies du Développement du CHU de Dijon&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients (children and adults) with development anomalies whose molecular bases are&#xD;
             unknown, or for which the pathophysiological mechanism is poorly understood&#xD;
&#xD;
          -  Consent of the patient or his/her legal representative&#xD;
&#xD;
          -  Suitable level of understanding&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients without national health insurance cover&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Chu Dijon Bourogne</name>
      <address>
        <city>Dijon</city>
        <zip>21000</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Laurence OLIVIER-FAIVRE</last_name>
      <phone>03.80.29.53.13</phone>
      <email>laurence.faivre@chu-dijon.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>August 2023</verification_date>
  <study_first_submitted>August 22, 2017</study_first_submitted>
  <study_first_submitted_qc>September 18, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 19, 2017</study_first_posted>
  <last_update_submitted>August 28, 2023</last_update_submitted>
  <last_update_submitted_qc>August 28, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">August 29, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT03287193
org study id: OLIVIER-FAIVRE 2016
nct id: NCT03287193
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
Developmental diseases include more than 3000 diseases and can associate organ malformation,
      dysmorphism, development disorders and/or intellectual deficiency. Even though the
      considerable effort in the search for genes in the last 20 years has led to the
      identification of thousands of genes associated with Mendelian diseases, half of the
      individuals with severe development anomalies remain without a genetic diagnosis. It is
      important to pursue the ambition to contribute to the goal fixed by Europe, namely the
      identification of the large majority of genes responsible for rare diseases with development
      anomalies, and to be able to provide genetic counselling to patients and their families. In
      the past, scientific research to discover genes required a large number of families and
      individuals and was slow and expensive to carry out. Today, this approach has been
      facilitated by next generation sequencing.
observational model: Cohort
time perspective: Prospective
measure: Number of new genes identified.
time frame: through study completion, an average of 5 years
intervention type: Biological
intervention name: Blood sample
description: for patient and its parents
intervention type: Genetic
intervention name: high-throughput sequencing
description: exome or whole genome sequencing
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
facility: 
status: Recruiting
contact: 
country: France
responsible party type: Sponsor