<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/NCT03268681</url>
  </required_header>
  <id_info>
    <org_study_id>RDS_2017_14</org_study_id>
    <nct_id>NCT03268681</nct_id>
  </id_info>
  <brief_title>BIOtinidase Test In Optic-Neuropathy</brief_title>
  <acronym>BIOTIN</acronym>
  <official_title>BIOtinidase Test In Optic-Neuropathy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Fondation Ophtalmologique Adolphe de Rothschild</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Fondation Ophtalmologique Adolphe de Rothschild</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>
      Biotinidase is an enzyme that recycles biotin, a water-soluble vitamin essential as a&#xD;
      coenzyme for four carboxylases that are involved in gluconeogenesis, fatty acid synthesis,&#xD;
      and in the catabolism of several branch-chain amino acids. Biotinidase deficiency (BD) is an&#xD;
      autosomal recessively inherited disorder. Patients with profound BD (&lt;10% of mean normal&#xD;
      serum biotinidase activity) presents, usually during early childhood, with neurological&#xD;
      (seizures, hypotonia, ataxia, developmental delay, vision problems, and/or hearing loss) and&#xD;
      non-neurological findings (metabolic acidosis, respiratory difficulties, alopecia and/or skin&#xD;
      rash) that may progress to coma or death if untreated.&#xD;
&#xD;
      Three cases of adult-onset biotinidase deficiency with reversible optic neuropathy have&#xD;
      recently been described in France, where there is no neonatal screening of BP. Once treated&#xD;
      with Biotin, patients' vision was fully restored.&#xD;
&#xD;
      This study aims to assess the prevalence of BP among a population of patients with idiopathic&#xD;
      optic neuropathy, and to assess the efficacy of Biotin supplementation on visual impairment&#xD;
      in these patients.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">July 26, 2017</start_date>
  <completion_date type="Actual">July 26, 2018</completion_date>
  <primary_completion_date type="Actual">May 30, 2018</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Only</observational_model>
    <time_perspective>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>prevalence of biotin deficiency among patients with idiopathic optic neuropathy</measure>
    <time_frame>baseline</time_frame>
    <description>measure of biotinidase activity (nkat/l unit)</description>
  </primary_outcome>
  <enrollment type="Actual">12</enrollment>
  <condition>Biotin Deficiency</condition>
  <condition>Optic Neuropathy</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with idiopatic bilateral optic neuropathy&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  patient with bilateral optic neuropathy&#xD;
&#xD;
          -  symptoms beginning before 50 years old&#xD;
&#xD;
          -  diagnosed for more than 1 months&#xD;
&#xD;
          -  etiology unknown&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  none&#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>Romain Deschamps, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Fondation OPH A de Rothschild</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Fondation OPH A. de Rothschild</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>October 2018</verification_date>
  <study_first_submitted>August 29, 2017</study_first_submitted>
  <study_first_submitted_qc>August 30, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 31, 2017</study_first_posted>
  <last_update_submitted>October 17, 2018</last_update_submitted>
  <last_update_submitted_qc>October 17, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">October 18, 2018</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>Optic Nerve Diseases</mesh_term>
    <mesh_term>Biotinidase Deficiency</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/NCT03268681
org study id: RDS_2017_14
nct id: NCT03268681
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Biotinidase is an enzyme that recycles biotin, a water-soluble vitamin essential as a
      coenzyme for four carboxylases that are involved in gluconeogenesis, fatty acid synthesis,
      and in the catabolism of several branch-chain amino acids. Biotinidase deficiency (BD) is an
      autosomal recessively inherited disorder. Patients with profound BD (<10% of mean normal
      serum biotinidase activity) presents, usually during early childhood, with neurological
      (seizures, hypotonia, ataxia, developmental delay, vision problems, and/or hearing loss) and
      non-neurological findings (metabolic acidosis, respiratory difficulties, alopecia and/or skin
      rash) that may progress to coma or death if untreated.

      Three cases of adult-onset biotinidase deficiency with reversible optic neuropathy have
      recently been described in France, where there is no neonatal screening of BP. Once treated
      with Biotin, patients' vision was fully restored.

      This study aims to assess the prevalence of BP among a population of patients with idiopathic
      optic neuropathy, and to assess the efficacy of Biotin supplementation on visual impairment
      in these patients.
observational model: Case-Only
time perspective: Cross-Sectional
measure: prevalence of biotin deficiency among patients with idiopathic optic neuropathy
time frame: baseline
description: measure of biotinidase activity (nkat/l unit)
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Romain Deschamps, MD
role: Principal Investigator
affiliation: Fondation OPH A de Rothschild
facility: 
country: France
responsible party type: Sponsor
mesh term: Optic Nerve Diseases
mesh term: Biotinidase Deficiency
sharing ipd: No