<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/NCT02976948</url>
  </required_header>
  <id_info>
    <org_study_id>UF 9551</org_study_id>
    <nct_id>NCT02976948</nct_id>
  </id_info>
  <brief_title>Evaluation of a New Sequencing Strategy in Autoinflammatory Siseases (BIOSAID)</brief_title>
  <acronym>BIOSAID</acronym>
  <official_title>Evaluation of a New Sequencing Strategy in Autoinflammatory Diseases Diagnostic Value and Therapeutic Orientation</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Montpellier</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Montpellier</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Main objective: To compare the efficacy of a new strategy of Next Generation Sequencing (NGS)&#xD;
      versus a classical Sanger strategy, for the diagnosis of patients referred to the laboratory&#xD;
      for suspected systemic autoinflammatory diseases (SAID).&#xD;
&#xD;
      Secondary objectives:&#xD;
&#xD;
        -  Compare after 6 months the impact of these strategies on the establishment of an&#xD;
           effective treatment SAID following genetic result.&#xD;
&#xD;
        -  Compare the distribution of different forms of SAID found with each genetic diagnostic&#xD;
           strategies (NGS vs classic method).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Systemic autoinflammatory diseases (SAID) include a broad spectrum of pathologies of innate&#xD;
      immunity. In recent years, numerous publications have shown the involvement of new genes in&#xD;
      these diseases, highlighting new pathophysiological pathways (inflammasome, NFkB: nuclear&#xD;
      factor-kappa B, interferon) and new targeted therapies (biotherapy advantageously replacing&#xD;
      non-specific anti-inflammatory drugs). Current laboratory diagnostic strategy is based on the&#xD;
      Sanger method, the gold standard to date, allowing the sequential analysis of some genes&#xD;
      (usually between 1 and 4). The nonspecific nature of the clinical presentation of these&#xD;
      diseases, the increasing number of genes involved and the low diagnostic yield obtained, make&#xD;
      it essential to develop a new strategy, more efficient, so that the patient can benefit as&#xD;
      soon as possible treatment suited to his pathology as soon as the gene involved is&#xD;
      identified. The investigator had developed and validated in our genetic laboratories a new&#xD;
      method based on the Next Generation Sequencing (NGS). A panel of 32 known or candidate SAID&#xD;
      genes, which can be simultaneously analyzed within a time compatible with the diagnosis. The&#xD;
      investigator wishes to highlight the benefits of this new strategy.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Terminated</overall_status>
  <why_stopped>
    Inclusion of the last patient&#xD;
  </why_stopped>
  <start_date type="Actual">July 31, 2015</start_date>
  <completion_date type="Actual">March 31, 2020</completion_date>
  <primary_completion_date type="Actual">July 31, 2019</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger</measure>
    <time_frame>At time of report issue up to two years</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Date of introduction of relevant treatment</measure>
    <time_frame>6 months after report issue</time_frame>
  </secondary_outcome>
  <enrollment type="Actual">299</enrollment>
  <condition>Systemic Autoinflammatory Diseases (SAID)</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>No intervention</intervention_name>
  </intervention>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Patients with prerequisites established jointly by the reference centers . At least 3&#xD;
      unexplained inflammatory access elevated CRP (C reactive protein)&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients referred to the laboratory for suspected Systemic Autoinflammatory Diseases (SAID)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Patients with prerequisites established jointly by the reference centers:&#xD;
&#xD;
          -  At least 3 unexplained inflammatory access&#xD;
&#xD;
          -  Elevated C Reactive Protein&#xD;
&#xD;
          -  Age of symtoms less than 30 years and validated by a physician CeréMAI (Centre de&#xD;
             référence des maladies autoinflamatoires)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Other inflammatory disease:&#xD;
&#xD;
          -  intercurrent infection&#xD;
&#xD;
          -  cancer&#xD;
&#xD;
          -  autoimmune disease&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>3 Months</minimum_age>
    <maximum_age>99 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Guillaume SARRABAY, md</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital, Montpellier</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>university Hospital Montpellier</name>
      <address>
        <city>Montpellier</city>
        <zip>34295</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>December 2021</verification_date>
  <study_first_submitted>September 2, 2016</study_first_submitted>
  <study_first_submitted_qc>November 26, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 30, 2016</study_first_posted>
  <last_update_submitted>December 9, 2021</last_update_submitted>
  <last_update_submitted_qc>December 9, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">December 30, 2021</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/NCT02976948
org study id: UF 9551
nct id: NCT02976948
lead sponsor: 
has dmc: No
Main objective: To compare the efficacy of a new strategy of Next Generation Sequencing (NGS)
      versus a classical Sanger strategy, for the diagnosis of patients referred to the laboratory
      for suspected systemic autoinflammatory diseases (SAID).

      Secondary objectives:

        -  Compare after 6 months the impact of these strategies on the establishment of an
           effective treatment SAID following genetic result.

        -  Compare the distribution of different forms of SAID found with each genetic diagnostic
           strategies (NGS vs classic method).
Systemic autoinflammatory diseases (SAID) include a broad spectrum of pathologies of innate
      immunity. In recent years, numerous publications have shown the involvement of new genes in
      these diseases, highlighting new pathophysiological pathways (inflammasome, NFkB: nuclear
      factor-kappa B, interferon) and new targeted therapies (biotherapy advantageously replacing
      non-specific anti-inflammatory drugs). Current laboratory diagnostic strategy is based on the
      Sanger method, the gold standard to date, allowing the sequential analysis of some genes
      (usually between 1 and 4). The nonspecific nature of the clinical presentation of these
      diseases, the increasing number of genes involved and the low diagnostic yield obtained, make
      it essential to develop a new strategy, more efficient, so that the patient can benefit as
      soon as possible treatment suited to his pathology as soon as the gene involved is
      identified. The investigator had developed and validated in our genetic laboratories a new
      method based on the Next Generation Sequencing (NGS). A panel of 32 known or candidate SAID
      genes, which can be simultaneously analyzed within a time compatible with the diagnosis. The
      investigator wishes to highlight the benefits of this new strategy.
observational model: Other
time perspective: Prospective
measure: Number of genetically ascertained patients using Next Generation Sequencing (NGS) vs Sanger
time frame: At time of report issue up to two years
measure: Date of introduction of relevant treatment
time frame: 6 months after report issue
intervention type: Other
intervention name: No intervention
Patients with prerequisites established jointly by the reference centers . At least 3
      unexplained inflammatory access elevated CRP (C reactive protein)
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: 3 Months
maximum age: 99 Years
healthy volunteers: No
last name: Guillaume SARRABAY, md
role: Principal Investigator
affiliation: University Hospital, Montpellier
facility: 
country: France
responsible party type: Sponsor