<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/NCT04461444</url>
  </required_header>
  <id_info>
    <org_study_id>7076</org_study_id>
    <nct_id>NCT04461444</nct_id>
  </id_info>
  <brief_title>COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Monocentric Interventional Study</brief_title>
  <acronym>COBBALT</acronym>
  <official_title>COhort for Bardet-Bield Syndrome and Alström Syndrome for Translational Research Etude Interventionnelle Monocentrique</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Strasbourg, France</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Strasbourg, France</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>
      ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and&#xD;
      metabolic impairments, including diabetes mellitus. There are to date no specific treatments&#xD;
      available and limited information on the natural history of the diseases. the investigators&#xD;
      aim to establish a French cohort for these diseases to improve patient care and assess the&#xD;
      effect of actual therapies on quality of life.&#xD;
&#xD;
      The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström&#xD;
      syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth&#xD;
      natural clinical and biological history of the disease on the long term for a given patient,&#xD;
      establish the impact on the quality of life of various clinical manifestations&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">June 16, 2020</start_date>
  <completion_date type="Anticipated">February 2035</completion_date>
  <primary_completion_date type="Anticipated">February 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>Supportive Care</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).</measure>
    <time_frame>5 years</time_frame>
    <description>renal function, eyes, endocrine, Clinical Examination</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).</measure>
    <time_frame>5 years</time_frame>
    <description>Record of biological results</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).</measure>
    <time_frame>5 years</time_frame>
    <description>Record of Social Life with questionnaire</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).</measure>
    <time_frame>5 years</time_frame>
    <description>Record of treatments (therapy and surgery)</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">350</enrollment>
  <condition>Bardet-Biedl Syndrome</condition>
  <condition>Alström Syndrome</condition>
  <arm_group>
    <arm_group_label>Group ALMS et BBS</arm_group_label>
    <arm_group_type>Other</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>Skin biopsy</intervention_name>
    <description>COBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure:&#xD;
risk of pain due to the procedure performed under local anaesthesia&#xD;
can leave a visible scar (about 2 x 1 cm)</description>
    <arm_group_label>Group ALMS et BBS</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients of both sex&#xD;
&#xD;
          -  Age minimum*&#xD;
&#xD;
          -  patients with social protection&#xD;
&#xD;
          -  Written informed consent form signed prior initiating any trial related procedure:&#xD;
&#xD;
               -  by &gt; 18-year old patients&#xD;
&#xD;
               -  by both parents for minor patients &gt; 4 months or legal representative for&#xD;
                  protected adults, and by minor and protected adults patients if able to&#xD;
                  understand and/or give their assent.&#xD;
&#xD;
               -  For foreign patients, a third party will translate, if required, the information&#xD;
                  prior to the consent.&#xD;
&#xD;
          -  a diagnosis of BBS or ALMS based on molecular assessment or clinical evaluation/or&#xD;
             patient with mutation and none of the diagnosis criteria&#xD;
&#xD;
          -  and/or an identified mutation in BBS genes or ALMS1 gene&#xD;
&#xD;
               -  The inclusion of children is essential to a cohort study that is attempting an&#xD;
                  early identification of visual, metabolic and renal abnormalities. Many of the&#xD;
                  age-dependent manifestations of BBS develop during childhood and the average age&#xD;
                  of diagnosis is 9.2 years&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Serious active intercurrent pathology that may impact the collected data&#xD;
&#xD;
          -  Patient under judicial protection&#xD;
&#xD;
          -  Participation in another interventional clinical trial which includes an exclusion&#xD;
             period&#xD;
&#xD;
          -  Non protected adult with difficulty of comprehension, or inability to understand the&#xD;
             delivered information (emergency situation ...).&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>4 Months</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Hélène DOLFFUS</last_name>
    <phone>+33.3.69.55.19.55</phone>
    <email>helene.dollfus@chru-strasbourg.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>Les Hôpitaux Universitaires de Strasbourg</name>
      <address>
        <city>Strasbourg</city>
        <zip>67098</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Hélène DOLLFUS</last_name>
      <phone>+33 3.69.55.19.55</phone>
      <email>helene.dollfus@chru-strasbourg.fr</email>
    </contact>
    <investigator>
      <last_name>Sylvie ROSSIGNOL</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Elise SCHAEFER</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Anaïs PHILIPPE</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>Hélène DOLFFUS</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>September 2021</verification_date>
  <study_first_submitted>January 21, 2019</study_first_submitted>
  <study_first_submitted_qc>July 2, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 8, 2020</study_first_posted>
  <last_update_submitted>September 9, 2021</last_update_submitted>
  <last_update_submitted_qc>September 9, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">September 10, 2021</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>Bardet-Biedl Syndrome</mesh_term>
    <mesh_term>Laurence-Moon Syndrome</mesh_term>
    <mesh_term>Alstrom Syndrome</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</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/NCT04461444
org study id: 7076
nct id: NCT04461444
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
ALMS and BBS syndromes are rare diseases with overlapping features of multiple sensory and
      metabolic impairments, including diabetes mellitus. There are to date no specific treatments
      available and limited information on the natural history of the diseases. the investigators
      aim to establish a French cohort for these diseases to improve patient care and assess the
      effect of actual therapies on quality of life.

      The purpose of this study is to establish a cohort of Bardet-Bield syndrome (BBS) and ALström
      syndrome (ALMS) patients in order to formalize and address questions concerning the in-depth
      natural clinical and biological history of the disease on the long term for a given patient,
      establish the impact on the quality of life of various clinical manifestations
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Supportive Care
masking: None (Open Label)
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
time frame: 5 years
description: renal function, eyes, endocrine, Clinical Examination
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
time frame: 5 years
description: Record of biological results
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
time frame: 5 years
description: Record of Social Life with questionnaire
measure: Clinical history description of Bardet-Biedl (BBS) and ALström syndromes (ALMS).
time frame: 5 years
description: Record of treatments (therapy and surgery)
arm group label: Group ALMS et BBS
arm group type: Other
intervention type: Genetic
intervention name: Skin biopsy
description: COBBALT is considered as an interventional with minor associated risks and constrains study due to the presence of skin biopsies that may not all be part of the usual medical practice. Risks are those linked to the biopsy procedure:
risk of pain due to the procedure performed under local anaesthesia
can leave a visible scar (about 2 x 1 cm)
arm group label: Group ALMS et BBS
criteria: 
gender: All
minimum age: 4 Months
maximum age: N/A
healthy volunteers: No
last name: Hélène DOLFFUS
phone: +33.3.69.55.19.55
email: helene.dollfus@chru-strasbourg.fr
facility: 
status: Recruiting
contact: 
investigator: 
investigator: 
investigator: 
investigator: 
country: France
responsible party type: Sponsor
mesh term: Bardet-Biedl Syndrome
mesh term: Laurence-Moon Syndrome
mesh term: Alstrom Syndrome
mesh term: Syndrome
sharing ipd: Undecided