<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/NCT02196909</url>
  </required_header>
  <id_info>
    <org_study_id>ClinBio-GNE</org_study_id>
    <nct_id>NCT02196909</nct_id>
  </id_info>
  <brief_title>Clinical, Biological and NMR Outcome Measures Study for Hereditary Inclusion Body Myopathy Due to Mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine Kinase Gene (GNE)</brief_title>
  <acronym>ClinBio-GNE</acronym>
  <sponsors>
    <lead_sponsor>
      <agency>Institut de Myologie, France</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Institut de Myologie, France</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The objective of the study is to identify the best clinical and biological outcome measures&#xD;
      for further therapeutics approaches.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">July 2014</start_date>
  <completion_date type="Actual">May 2018</completion_date>
  <primary_completion_date type="Actual">May 2018</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>Basic Science</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Measure of changes in motor function and muscle strength assessment between 2 time points</measure>
    <time_frame>baseline, 1 year, 2 years, 3 years</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)</measure>
    <time_frame>baseline, 1 year, 2 years, 3 years</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>24h urine and serum collection, measures at different time points</measure>
    <time_frame>baseline, 1 year, 2 years, 3 years</time_frame>
  </primary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Actual">20</enrollment>
  <condition>HIBM</condition>
  <arm_group>
    <arm_group_label>HIBM patient</arm_group_label>
    <arm_group_type>Active Comparator</arm_group_type>
    <description>motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Controls</arm_group_label>
    <arm_group_type>Active Comparator</arm_group_type>
    <description>motor function, muscle strength, 24h urine and serum collections at baseline only</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>motor function and strength assessment</intervention_name>
    <arm_group_label>Controls</arm_group_label>
    <arm_group_label>HIBM patient</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>NMR assessment</intervention_name>
    <arm_group_label>HIBM patient</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>24h urine and serum collection</intervention_name>
    <arm_group_label>Controls</arm_group_label>
    <arm_group_label>HIBM patient</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Must be at least 18 years of age.&#xD;
&#xD;
          -  Must be willing and able to provide consent.&#xD;
&#xD;
          -  Must have a genetic diagnosis of HIBM, GNE myopathy, Quadriceps Sparing Myopathy&#xD;
             (QSM), Inclusion Body Myopathy Type 2, distal myopathy with rimmed vacuoles (DMRV), or&#xD;
             Nonaka disease.&#xD;
&#xD;
          -  Must be willing and able to comply with all study requirements.&#xD;
&#xD;
          -  Affiliated to or a beneficiary of a social security category&#xD;
&#xD;
          -  Must take part in the HIBM-PMP UX001-CL401 study&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Received ManNAc therapy or other similar substance&#xD;
&#xD;
          -  Any unrelated, comorbid disease or condition that, in the view of the investigator,&#xD;
             would interfere with study participation or would affect safety.&#xD;
&#xD;
          -  Patients with specific contraindication to MRI (i.e. metallic foreign body,&#xD;
             claustrophobia…) will be allowed to participate, but MRI will not be performed.&#xD;
&#xD;
          -  Pregnant women.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>65 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Institute of Myology</name>
      <address>
        <city>Paris</city>
        <zip>75013</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>August 2018</verification_date>
  <study_first_submitted>April 8, 2014</study_first_submitted>
  <study_first_submitted_qc>July 18, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">July 22, 2014</study_first_posted>
  <last_update_submitted>August 7, 2018</last_update_submitted>
  <last_update_submitted_qc>August 7, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">August 8, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>HIBM</keyword>
  <keyword>GNE</keyword>
  <!-- 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/NCT02196909
org study id: ClinBio-GNE
nct id: NCT02196909
lead sponsor: 
has dmc: No
The objective of the study is to identify the best clinical and biological outcome measures
      for further therapeutics approaches.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Basic Science
masking: None (Open Label)
measure: Measure of changes in motor function and muscle strength assessment between 2 time points
time frame: baseline, 1 year, 2 years, 3 years
measure: Measure of changes in NMR upper and lower limbs assessment between 2 timepoints(not for controls)
time frame: baseline, 1 year, 2 years, 3 years
measure: 24h urine and serum collection, measures at different time points
time frame: baseline, 1 year, 2 years, 3 years
arm group label: HIBM patient
arm group type: Active Comparator
description: motor function, muscle strength, NMR, 24h urine and serum collections at baseline, then annually
arm group label: Controls
arm group type: Active Comparator
description: motor function, muscle strength, 24h urine and serum collections at baseline only
intervention type: Other
intervention name: motor function and strength assessment
arm group label: Controls
arm group label: HIBM patient
intervention type: Other
intervention name: NMR assessment
arm group label: HIBM patient
intervention type: Other
intervention name: 24h urine and serum collection
arm group label: Controls
arm group label: HIBM patient
criteria: 
gender: All
minimum age: 18 Years
maximum age: 65 Years
healthy volunteers: Accepts Healthy Volunteers
facility: 
country: France
responsible party type: Sponsor