<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/NCT03288727</url>
  </required_header>
  <id_info>
    <org_study_id>OLIVIER-FAIVRE PREPS 2016</org_study_id>
    <nct_id>NCT03288727</nct_id>
  </id_info>
  <brief_title>Secondary Findings From High-throughput Sequencing: How to Announce Them With Respect to the Patient's Needs</brief_title>
  <acronym>FIND</acronym>
  <official_title>Incidental Findings Produced by Diagnostic HTS: From the Needs of Patients to Organisational Considerations</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>
      High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis&#xD;
      of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic&#xD;
      consultation), but it may also lead to the discovery of mutations not related to the&#xD;
      patient's disease. These findings are called &quot;incidental findings&quot; (IF) and may give rise to&#xD;
      preventive or curative interventions in a personalised medicine approach.&#xD;
&#xD;
      The question of proposing to patients access to all or part of these findings is a matter of&#xD;
      debate in France and elsewhere. This question has given rise to new challenges and new needs&#xD;
      that professionals must respond to by implementing appropriate management and new skills. It&#xD;
      raises specific ethical issues, which require precise understanding of the expectations and&#xD;
      experiences of patients. Patients' diagnostic trajectories must also meet criteria for&#xD;
      efficacy and financial and organisational sustainability for the healthcare establishments&#xD;
      and, for the healthcare system. Our project aims to assess the expectations of&#xD;
      patients/parents with regard to this opportunity, and to determine how information should be&#xD;
      provided to patients and how they should be accompanied to ensure efficient and appropriate&#xD;
      management.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">November 13, 2017</start_date>
  <completion_date type="Actual">November 24, 2021</completion_date>
  <primary_completion_date type="Actual">November 24, 2021</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <primary_purpose>Diagnostic</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)</measure>
    <time_frame>first day of the study</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>1) Questionnaires on their experience following the disclosure of IF (positive and negative), and their perception, needs and expectations with regard to the way the results are given.</measure>
    <time_frame>at 6 months after the inclusion</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>2) Questionnaires on the repercussions of access to IF, in terms of experience/ appropriation of the results, needs and expectations in terms of accompaniment following disclosure of the results, and the recourse to care.</measure>
    <time_frame>at 12 months after the inclusion</time_frame>
  </primary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Actual">342</enrollment>
  <condition>Development Disorders</condition>
  <arm_group>
    <arm_group_label>Negative IF result</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>Positive IF result</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>interviews with a psychologist</intervention_name>
    <description>an interview with a psychologist / sociologist will take place after completion of the on-site questionnaires to find out the reasons for their choice of accessing their secondary data and their experiences with the secondary data reported.</description>
    <arm_group_label>Negative IF result</arm_group_label>
    <arm_group_label>Positive IF result</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Adults or parents of of deceased foetuses/children (alive or deceased) or adults&#xD;
             living under guardianship or deceased, with Development Disorders(DD) who will undergo&#xD;
             WES for the first time for diagnostic purposes&#xD;
&#xD;
          -  Consent to take part in the study&#xD;
&#xD;
          -  Desire to screen for at least one group of IF&#xD;
&#xD;
          -  Able to speak fluent French.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients withough national health insurance cover&#xD;
&#xD;
          -  Absence of consent from the patient or his/her legal representative&#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 Bourgogne</name>
      <address>
        <city>Dijon</city>
        <zip>21079</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospices Civils de Lyon</name>
      <address>
        <city>Lyon</city>
        <zip>69000</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Groupe Hospitalier Pitié-Salpêtrière</name>
      <address>
        <city>Paris</city>
        <zip>75013</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>September 2022</verification_date>
  <study_first_submitted>September 18, 2017</study_first_submitted>
  <study_first_submitted_qc>September 18, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">September 20, 2017</study_first_posted>
  <last_update_submitted>September 13, 2022</last_update_submitted>
  <last_update_submitted_qc>September 13, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">September 14, 2022</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/NCT03288727
org study id: OLIVIER-FAIVRE PREPS 2016
nct id: NCT03288727
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
High-throughput whole-genome sequencing (WGS) is bringing new opportunities in the diagnosis
      of rare diseases. It will more frequently lead to a primary diagnosis (aim of the genetic
      consultation), but it may also lead to the discovery of mutations not related to the
      patient's disease. These findings are called "incidental findings" (IF) and may give rise to
      preventive or curative interventions in a personalised medicine approach.

      The question of proposing to patients access to all or part of these findings is a matter of
      debate in France and elsewhere. This question has given rise to new challenges and new needs
      that professionals must respond to by implementing appropriate management and new skills. It
      raises specific ethical issues, which require precise understanding of the expectations and
      experiences of patients. Patients' diagnostic trajectories must also meet criteria for
      efficacy and financial and organisational sustainability for the healthcare establishments
      and, for the healthcare system. Our project aims to assess the expectations of
      patients/parents with regard to this opportunity, and to determine how information should be
      provided to patients and how they should be accompanied to ensure efficient and appropriate
      management.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Diagnostic
masking: None (Open Label)
measure: Questionnaires on the expectations of patients/parents with regard to incidental findings (IF)
time frame: first day of the study
measure: 1) Questionnaires on their experience following the disclosure of IF (positive and negative), and their perception, needs and expectations with regard to the way the results are given.
time frame: at 6 months after the inclusion
measure: 2) Questionnaires on the repercussions of access to IF, in terms of experience/ appropriation of the results, needs and expectations in terms of accompaniment following disclosure of the results, and the recourse to care.
time frame: at 12 months after the inclusion
arm group label: Negative IF result
arm group type: Experimental
arm group label: Positive IF result
arm group type: Experimental
intervention type: Other
intervention name: interviews with a psychologist
description: an interview with a psychologist / sociologist will take place after completion of the on-site questionnaires to find out the reasons for their choice of accessing their secondary data and their experiences with the secondary data reported.
arm group label: Negative IF result
arm group label: Positive IF result
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
facility: 
facility: 
facility: 
country: France
responsible party type: Sponsor