<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/NCT04499040</url>
  </required_header>
  <id_info>
    <org_study_id>2016-42</org_study_id>
    <nct_id>NCT04499040</nct_id>
  </id_info>
  <brief_title>Clinical and Biological Characterization of Patients and Collection of Samples</brief_title>
  <acronym>THE-RNA</acronym>
  <official_title>Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Assistance Publique Hopitaux De Marseille</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Assistance Publique Hopitaux De Marseille</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>
      Objectives: Collect clinical and biological data about patients with SD/THE, collect samples&#xD;
      of patients; create a secure on line database to collect worldwide data about SD/THE Partners&#xD;
      : APHM, HCL, APHP&#xD;
&#xD;
      Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE&#xD;
      and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker,&#xD;
      Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units&#xD;
      for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune&#xD;
      defect and liver disease are responsible for the main part of the burden of the disease .For&#xD;
      each aspect, the investigators will propose a close follow-up with collection of clinical,&#xD;
      biochemical, functional and microbial data.&#xD;
&#xD;
      Collect of clinical date: during a programmed consultation clinical data about symptom will&#xD;
      be collected twice a year. A detailed form will be used for better delineation of the&#xD;
      symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of&#xD;
      these children have recurrent sample for follow up. During them some blood will be take for&#xD;
      study the immune side but also the platelet function.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Not yet recruiting</overall_status>
  <start_date type="Anticipated">September 1, 2020</start_date>
  <completion_date type="Anticipated">December 31, 2023</completion_date>
  <primary_completion_date type="Anticipated">August 31, 2023</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>Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome</measure>
    <time_frame>3 years</time_frame>
    <description>Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know:&#xD;
neonatal characteristics,&#xD;
existence or not of the 9 clinical signs suggestive of the disease,&#xD;
initial symptoms and chronology leading to the diagnosis,&#xD;
organ damage,&#xD;
nutrition,&#xD;
treatment,&#xD;
growth,&#xD;
dermatological evaluation,&#xD;
hepatic evaluation,&#xD;
neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV),&#xD;
quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults),&#xD;
self-report anxiety scale (STAI in children over 8 years)</description>
  </primary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Tricho Hepato Enteric Syndrome</condition>
  <arm_group>
    <arm_group_label>patients with SD/THE</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>control group</arm_group_label>
    <arm_group_type>Placebo Comparator</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Biological</intervention_type>
    <intervention_name>Blood sample</intervention_name>
    <description>Blood samples to assess biological parameters such as:</description>
    <arm_group_label>control group</arm_group_label>
    <arm_group_label>patients with SD/THE</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Fecal samples</intervention_name>
    <description>Microbiota analysis</description>
    <arm_group_label>control group</arm_group_label>
    <arm_group_label>patients with SD/THE</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Behavioral</intervention_type>
    <intervention_name>Neuropsychological</intervention_name>
    <description>Neuropsychological assessment</description>
    <arm_group_label>patients with SD/THE</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  patient &lt; 18 year-old&#xD;
&#xD;
          -  patients with SD/THE&#xD;
&#xD;
        control group :&#xD;
&#xD;
          -  patients with tufting enteropathy and short bowel syndrome.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  child among whom the parents or the legal representatives refused that their child&#xD;
             participates in this study&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Jean-Olivier Arnaud</last_name>
    <role>Study Director</role>
    <affiliation>Assistance Publique Hopitaux De Marseille</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Alexandre FABRE</last_name>
    <phone>491382747</phone>
    <phone_ext>+33</phone_ext>
    <email>alexandre.fabre@ap-hm.fr</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>DRS AP-HM, Sponsor</last_name>
    <phone>491382747</phone>
    <phone_ext>+33</phone_ext>
    <email>drci@ap-hm.fr</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Assistance Publique Hopitaux de Marseille</name>
      <address>
        <city>Marseille</city>
        <country>France</country>
      </address>
    </facility>
    <contact>
      <last_name>ALEXANDRE FABRE</last_name>
      <email>alexandre.fabre@ap-hm.fr</email>
    </contact>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>July 2020</verification_date>
  <study_first_submitted>August 31, 2016</study_first_submitted>
  <study_first_submitted_qc>July 30, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">August 5, 2020</study_first_posted>
  <last_update_submitted>July 30, 2020</last_update_submitted>
  <last_update_submitted_qc>July 30, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">August 5, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Fetal Growth Retardation</mesh_term>
    <mesh_term>Hair Diseases</mesh_term>
    <mesh_term>Syndrome</mesh_term>
    <mesh_term>Diarrhea, Infantile</mesh_term>
    <mesh_term>Facies</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </patient_data>
  <!-- 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/NCT04499040
org study id: 2016-42
nct id: NCT04499040
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Objectives: Collect clinical and biological data about patients with SD/THE, collect samples
      of patients; create a secure on line database to collect worldwide data about SD/THE Partners
      : APHM, HCL, APHP

      Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE
      and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker,
      Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units
      for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune
      defect and liver disease are responsible for the main part of the burden of the disease .For
      each aspect, the investigators will propose a close follow-up with collection of clinical,
      biochemical, functional and microbial data.

      Collect of clinical date: during a programmed consultation clinical data about symptom will
      be collected twice a year. A detailed form will be used for better delineation of the
      symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of
      these children have recurrent sample for follow up. During them some blood will be take for
      study the immune side but also the platelet function.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Diagnostic
masking: None (Open Label)
measure: Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome
time frame: 3 years
description: Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know:
neonatal characteristics,
existence or not of the 9 clinical signs suggestive of the disease,
initial symptoms and chronology leading to the diagnosis,
organ damage,
nutrition,
treatment,
growth,
dermatological evaluation,
hepatic evaluation,
neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV),
quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults),
self-report anxiety scale (STAI in children over 8 years)
arm group label: patients with SD/THE
arm group type: Experimental
arm group label: control group
arm group type: Placebo Comparator
intervention type: Biological
intervention name: Blood sample
description: Blood samples to assess biological parameters such as:
arm group label: control group
arm group label: patients with SD/THE
intervention type: Other
intervention name: Fecal samples
description: Microbiota analysis
arm group label: control group
arm group label: patients with SD/THE
intervention type: Behavioral
intervention name: Neuropsychological
description: Neuropsychological assessment
arm group label: patients with SD/THE
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Jean-Olivier Arnaud
role: Study Director
affiliation: Assistance Publique Hopitaux De Marseille
last name: Alexandre FABRE
phone: 491382747
phone ext: +33
email: alexandre.fabre@ap-hm.fr
last name: DRS AP-HM, Sponsor
phone: 491382747
phone ext: +33
email: drci@ap-hm.fr
facility: 
contact: 
country: France
responsible party type: Sponsor
mesh term: Fetal Growth Retardation
mesh term: Hair Diseases
mesh term: Syndrome
mesh term: Diarrhea, Infantile
mesh term: Facies
sharing ipd: No