<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/NCT03763864</url>
  </required_header>
  <id_info>
    <org_study_id>APTEEUS001</org_study_id>
    <nct_id>NCT03763864</nct_id>
  </id_info>
  <brief_title>Development of In Vitro Functional Assays From Primary Cells of Patients With Monogenic Diseases</brief_title>
  <acronym>OPERANDO</acronym>
  <official_title>Développement de Tests Fonctionnels in Vitro à Partir de Cellules Primaires de Patients Atteints de Maladies Monogéniques</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Apteeus</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Apteeus</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The objective of this project is to build a collection of biological samples consisting of&#xD;
      fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use&#xD;
      these cells in the customization of functional tests. The miniaturized tests we are setting&#xD;
      up make it possible to distinguish patient cells from control cells. They can be used to test&#xD;
      molecules or for the development of diagnostic tests.&#xD;
&#xD;
      As part of the research protocol, the investigating physicians will be able to perform a skin&#xD;
      biopsy on their patient included in the study. APTEEUS will isolate fibroblasts and&#xD;
      keratinocytes and ensure their preservation. As part of the project, it is planned to&#xD;
      preserve the biological samples collected and to preserve the collection after the end of the&#xD;
      study. Skin fibroblasts and keratinocytes that are isolated from the biopsy are cells that&#xD;
      can be preserved and amplified. They are a material of choice for the functional study of&#xD;
      many monogenic diseases.&#xD;
&#xD;
      This study will allow the adaptation of tools dedicated to the functional study of monogenic&#xD;
      diseases in order to help in the research and development of new treatments for these&#xD;
      diseases, but also to highlight and explain the inter-individual variability of symptoms and&#xD;
      responses to treatments, and finally, to help in the development of diagnostic methods.&#xD;
&#xD;
      Patients with orphan monogenic diseases whose genetic defect has been confirmed and for whom&#xD;
      the study of the disease can be performed on fibroblasts, keratinocytes or cells derived from&#xD;
      them, may be included in the study. Subjects, after information and consent, will undergo a&#xD;
      skin biopsy. The sample will be sent directly to the promoter company APTEEUS, which will&#xD;
      carry out all in vitro developments. The fibroblasts and keratinocytes will be preserved and&#xD;
      will constitute a collection of cells &quot;orphan monogenic diseases&quot;. The samples can be reused&#xD;
      for new research in the same field.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Enrolling by invitation</overall_status>
  <start_date type="Actual">September 6, 2017</start_date>
  <completion_date type="Anticipated">September 6, 2025</completion_date>
  <primary_completion_date type="Anticipated">September 6, 2025</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Basic Science</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Measurement of the residual enzymatic activity on the isolated fibroblast and or keratinocytes using appropriate methodology.</measure>
    <time_frame>6 months</time_frame>
    <description>The function of the impaired enzyme will be assessed by measuring in vitro the residual enzymatic activity using labeled substrate. Technologies used are based on mass spectrometry. Residual enzymatic activity will be expressed as a percentage of normal controls.</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Monogenic Disorders</condition>
  <arm_group>
    <arm_group_label>Inherited disorders</arm_group_label>
    <arm_group_type>Other</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Skin Biopsy</intervention_name>
    <description>Skin Biopsy</description>
    <arm_group_label>Inherited disorders</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients with an orphan monogenic disease (without any satisfactory therapeutic&#xD;
             option).&#xD;
&#xD;
          -  Patients with a pathology whose functional cause can be demonstrated by APTEEUS&#xD;
             technologies in skin cells or cells derived from them.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients whose molecular cause is not clearly identified.&#xD;
&#xD;
          -  Patients contraindicated for skin biopsy.&#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>CHRU</name>
      <address>
        <city>Lille</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>July 2023</verification_date>
  <study_first_submitted>November 29, 2018</study_first_submitted>
  <study_first_submitted_qc>December 3, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 4, 2018</study_first_posted>
  <last_update_submitted>July 19, 2023</last_update_submitted>
  <last_update_submitted_qc>July 19, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">July 20, 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/NCT03763864
org study id: APTEEUS001
nct id: NCT03763864
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The objective of this project is to build a collection of biological samples consisting of
      fibroblasts and primary keratinocytes from patients with orphan monogenic diseases and to use
      these cells in the customization of functional tests. The miniaturized tests we are setting
      up make it possible to distinguish patient cells from control cells. They can be used to test
      molecules or for the development of diagnostic tests.

      As part of the research protocol, the investigating physicians will be able to perform a skin
      biopsy on their patient included in the study. APTEEUS will isolate fibroblasts and
      keratinocytes and ensure their preservation. As part of the project, it is planned to
      preserve the biological samples collected and to preserve the collection after the end of the
      study. Skin fibroblasts and keratinocytes that are isolated from the biopsy are cells that
      can be preserved and amplified. They are a material of choice for the functional study of
      many monogenic diseases.

      This study will allow the adaptation of tools dedicated to the functional study of monogenic
      diseases in order to help in the research and development of new treatments for these
      diseases, but also to highlight and explain the inter-individual variability of symptoms and
      responses to treatments, and finally, to help in the development of diagnostic methods.

      Patients with orphan monogenic diseases whose genetic defect has been confirmed and for whom
      the study of the disease can be performed on fibroblasts, keratinocytes or cells derived from
      them, may be included in the study. Subjects, after information and consent, will undergo a
      skin biopsy. The sample will be sent directly to the promoter company APTEEUS, which will
      carry out all in vitro developments. The fibroblasts and keratinocytes will be preserved and
      will constitute a collection of cells "orphan monogenic diseases". The samples can be reused
      for new research in the same field.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Basic Science
masking: None (Open Label)
measure: Measurement of the residual enzymatic activity on the isolated fibroblast and or keratinocytes using appropriate methodology.
time frame: 6 months
description: The function of the impaired enzyme will be assessed by measuring in vitro the residual enzymatic activity using labeled substrate. Technologies used are based on mass spectrometry. Residual enzymatic activity will be expressed as a percentage of normal controls.
arm group label: Inherited disorders
arm group type: Other
intervention type: Other
intervention name: Skin Biopsy
description: Skin Biopsy
arm group label: Inherited disorders
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
facility: 
country: France
responsible party type: Sponsor