<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/NCT01735188</url>
  </required_header>
  <id_info>
    <org_study_id>ALX-MCD-502</org_study_id>
    <secondary_id>ALX-MCD-502</secondary_id>
    <nct_id>NCT01735188</nct_id>
  </id_info>
  <brief_title>A Natural History Study of Molybdenum Cofactor and Isolated Sulfite Oxidase Deficiencies</brief_title>
  <official_title>A Natural History Study Of Molybdenum Cofactor And Isolated Sulfite Oxidase Deficiencies</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Origin Biosciences</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Origin Biosciences</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Primary objective:&#xD;
&#xD;
      Characterize the natural history of MoCD type A in terms of survival&#xD;
&#xD;
      Secondary objectives:&#xD;
&#xD;
        1. Evaluate blood and urine for biochemical markers&#xD;
&#xD;
        2. Evaluate head circumference, seizure activity and neurologic outcomes&#xD;
&#xD;
        3. To evaluate brain MRI&#xD;
&#xD;
        4. Compare blood and urine analysis, head circumference, seizure activity and neurologic&#xD;
           outcomes to MRI findings&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>August 2013</start_date>
  <completion_date type="Actual">June 2016</completion_date>
  <primary_completion_date type="Actual">November 2015</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Other</observational_model>
    <time_perspective>Other</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival</measure>
    <time_frame>12 months</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency.</measure>
    <time_frame>12 months</time_frame>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">65</enrollment>
  <condition>Molybdenum Cofactor Deficiency</condition>
  <condition>Isolated Sulfite Oxidase Deficiency</condition>
  <arm_group>
    <arm_group_label>Living</arm_group_label>
  </arm_group>
  <arm_group>
    <arm_group_label>Deceased</arm_group_label>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Plasma, urine, whole blood&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        The actual sample size will depend on successful identification of at least 30 MoCD Type A&#xD;
        patients&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Both living and deceased patients of any age will be considered for study inclusion.&#xD;
&#xD;
          2. Diagnosis of MoCD or isolated SOX deficiency&#xD;
&#xD;
          3. Documented informed consent&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. MoCD Type A patient who was in Study ALX-MCD-501&#xD;
&#xD;
          2. Deceased patients with unknown genotype (as of Amendment 4)&#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>Massachusetts General Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02115</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>UVA Health System</name>
      <address>
        <city>Charlottesville</city>
        <state>Virginia</state>
        <zip>22903</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Woodinville Pediatrics PLLC</name>
      <address>
        <city>Woodinville</city>
        <state>Washington</state>
        <zip>98072</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital for Sick Children</name>
      <address>
        <city>Toronto</city>
        <country>Canada</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Universitätsklinikum Freiburg</name>
      <address>
        <city>Freiburg</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Universitätsmedizin der Johannes Gutenberg-Universität Mainz</name>
      <address>
        <city>Mainz</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>TU Universitätsklinikum München</name>
      <address>
        <city>München</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Fachärztin für Kinder und Jugendmedizin</name>
      <address>
        <city>Offenbach</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>HaEmek Medical Center</name>
      <address>
        <city>Afula</city>
        <country>Israel</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Rambam Medical Center</name>
      <address>
        <city>Haifa</city>
        <country>Israel</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ospedale Pediatrico Bambin Gesu - Roma</name>
      <address>
        <city>Rome</city>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Wakayama Medical University</name>
      <address>
        <city>Wakayama</city>
        <country>Japan</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Kuala Lumpur Hospital</name>
      <address>
        <city>Kuala</city>
        <country>Malaysia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Beatrix Children's Hospital</name>
      <address>
        <city>Groningen</city>
        <country>Netherlands</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Leiden University Medical</name>
      <address>
        <city>Leiden</city>
        <country>Netherlands</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>The Children's Memorial Health Institute</name>
      <address>
        <city>Warsaw</city>
        <country>Poland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>King Fahad Medical City</name>
      <address>
        <city>Riyadh</city>
        <country>Saudi Arabia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Prince Sultan Riyadh Military Medical City</name>
      <address>
        <city>Riyadh</city>
        <country>Saudi Arabia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Germans Trias i Pujol University Hospital</name>
      <address>
        <city>Badalona</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital Sant Joan de Déu Barcelona</name>
      <address>
        <city>Esplugues de Llobregat</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital Universitario 12 de Octubre</name>
      <address>
        <city>Madrid</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital Clinico Universitario</name>
      <address>
        <city>Santiago de Compostela</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital Universitario Virgen del Rocio</name>
      <address>
        <city>Sevilla</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>La Rabta Hospital</name>
      <address>
        <city>Tunis</city>
        <country>Tunisia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ihsan Dogramaci Children's Hospital</name>
      <address>
        <city>Ankara</city>
        <country>Turkey</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Akdeniz University Hospital</name>
      <address>
        <city>Antalya</city>
        <country>Turkey</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Çocuk Sağlığı ve Hastalıkları Anabilim Dalı</name>
      <address>
        <city>Izmit</city>
        <country>Turkey</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Kayseri Education and Research Hospital</name>
      <address>
        <city>Kayseri</city>
        <country>Turkey</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Birmingham Children's Hospital</name>
      <address>
        <city>Birmingham</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Royal Hospital for Sick Children</name>
      <address>
        <city>Glasgow</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Great Ormond Street Hospital for Children</name>
      <address>
        <city>London</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Manchester Academic Health Science Centre</name>
      <address>
        <city>Manchester</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Canada</country>
    <country>Germany</country>
    <country>Israel</country>
    <country>Italy</country>
    <country>Japan</country>
    <country>Malaysia</country>
    <country>Netherlands</country>
    <country>Poland</country>
    <country>Saudi Arabia</country>
    <country>Spain</country>
    <country>Tunisia</country>
    <country>Turkey</country>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>March 2019</verification_date>
  <study_first_submitted>November 26, 2012</study_first_submitted>
  <study_first_submitted_qc>November 26, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 28, 2012</study_first_posted>
  <last_update_submitted>March 15, 2019</last_update_submitted>
  <last_update_submitted_qc>March 15, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">March 19, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Natural history study</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Amino Acid Metabolism, Inborn Errors</mesh_term>
  </condition_browse>
  <!-- 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/NCT01735188
org study id: ALX-MCD-502
secondary id: ALX-MCD-502
nct id: NCT01735188
lead sponsor: 
has dmc: No
Primary objective:

      Characterize the natural history of MoCD type A in terms of survival

      Secondary objectives:

        1. Evaluate blood and urine for biochemical markers

        2. Evaluate head circumference, seizure activity and neurologic outcomes

        3. To evaluate brain MRI

        4. Compare blood and urine analysis, head circumference, seizure activity and neurologic
           outcomes to MRI findings
observational model: Other
time perspective: Other
measure: To characterize the natural history of molybdenum cofactor deficiency (MoCD) type A, the most common subtype of MoCD, in terms of survival
time frame: 12 months
measure: To evaluate levels of the biochemical markers S-sulfocysteine (SSC), uric acid, and xanthine in blood, urine, and cerebral spinal fluid over time in patients with MoCD and isolated sulfite oxidase (SOX) deficiency.
time frame: 12 months
arm group label: Living
arm group label: Deceased
Plasma, urine, whole blood
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
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country: Canada
country: Germany
country: Israel
country: Italy
country: Japan
country: Malaysia
country: Netherlands
country: Poland
country: Saudi Arabia
country: Spain
country: Tunisia
country: Turkey
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Amino Acid Metabolism, Inborn Errors