<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/NCT01733615</url>
  </required_header>
  <id_info>
    <org_study_id>IRB00058450</org_study_id>
    <nct_id>NCT01733615</nct_id>
  </id_info>
  <brief_title>Discovering New Biomarkers For Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA</brief_title>
  <official_title>Discovering New Biomarkers for Monitoring Disease Progression in Patients With Mucopolysaccharidosis IVA (MPSIVA)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Emory University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Emory University</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to find out more about some of the unusual chemicals (called&#xD;
      oligosaccharides) that can occur naturally as a result of processes in the body. Researchers&#xD;
      want to look at how these chemicals change with time and how they change between different&#xD;
      patients with MPSIVA. These unusual chemicals were recently discovered in the urine from&#xD;
      patients with MPSIVA. The investigators would like to study these chemicals before a specific&#xD;
      enzyme replacement therapy is used. If the investigators understand how these chemicals&#xD;
      change, the investigators may be able to use them to monitor this condition in the near&#xD;
      future as well as help doctors know whether certain therapies work well in their patients.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is not a clinical trial and there is no outcome measurement. The biomarkers in this&#xD;
      study are oligosaccharides that secreted in the urine from patients with MPSIVa. In this&#xD;
      study, we will try to define the variability of these oligosaccharides in the same patient at&#xD;
      different time points, including different month of a year and different collections during&#xD;
      the day as well as variations of these oligosaccharide in different affected patients.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Terminated</overall_status>
  <why_stopped>
    Original PI relocated to another institution&#xD;
  </why_stopped>
  <start_date>June 2012</start_date>
  <completion_date type="Actual">February 2013</completion_date>
  <primary_completion_date type="Actual">February 2013</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>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.</measure>
    <time_frame>Every 2 months over the course of a year.</time_frame>
    <description>The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.</measure>
    <time_frame>One urine over the course of a year or 6M</time_frame>
    <description>The variability of oligosaccharides among different patients with MPSIVa will be evaluated.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">3</enrollment>
  <condition>Mucopolysaccharidosis Type IVA</condition>
  <arm_group>
    <arm_group_label>Mucopolysaccharidosis IVA</arm_group_label>
    <description>Patients with the condition.</description>
  </arm_group>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Frozen urine&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Newly diagnosed or untreated Mucopolysaccharidosis IVA patients across the nation collected&#xD;
        from national major genetic laboratories, national major genetic clinics, Includes the&#xD;
        Emory Genetics Clinic, Mayo Clinic, UPMC, Children's Hospital of Philadelphia, and&#xD;
        Nationwide Children's Center in Washington, DC.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Diagnosis of Mucopolysaccharidosis IVA&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients receiving enzyme replacement therapy.&#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>Madhuri Hegde, PhD, FACMG</last_name>
    <role>Principal Investigator</role>
    <affiliation>Emory University</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Emory University, Dept of Human Genetics</name>
      <address>
        <city>Decatur</city>
        <state>Georgia</state>
        <zip>30033</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <reference>
    <citation>Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2.</citation>
    <PMID>16200072</PMID>
  </reference>
  <reference>
    <citation>Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H. Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease. Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44. doi: 10.1111/j.1365-2990.2005.00675.x.</citation>
    <PMID>16150124</PMID>
  </reference>
  <verification_date>September 2014</verification_date>
  <study_first_submitted>November 21, 2012</study_first_submitted>
  <study_first_submitted_qc>November 26, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 27, 2012</study_first_posted>
  <last_update_submitted>September 2, 2014</last_update_submitted>
  <last_update_submitted_qc>September 2, 2014</last_update_submitted_qc>
  <last_update_posted type="Estimate">September 4, 2014</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Emory University</investigator_affiliation>
    <investigator_full_name>Madhuri Hegde</investigator_full_name>
    <investigator_title>Associate Professor</investigator_title>
  </responsible_party>
  <keyword>Mucopolysaccharidosis Type IVA</keyword>
  <keyword>Mucopolysaccharidosis Type IV</keyword>
  <keyword>MPS Type IVA</keyword>
  <keyword>MPS Type IV</keyword>
  <keyword>Morquio Syndrome</keyword>
  <keyword>Morquio Syndrome Type A</keyword>
  <keyword>Urine biomarkers</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Mucopolysaccharidoses</mesh_term>
    <mesh_term>Mucopolysaccharidosis IV</mesh_term>
    <mesh_term>Disease Progression</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/NCT01733615
org study id: IRB00058450
nct id: NCT01733615
lead sponsor: 
collaborator: 
has dmc: No
The purpose of this study is to find out more about some of the unusual chemicals (called
      oligosaccharides) that can occur naturally as a result of processes in the body. Researchers
      want to look at how these chemicals change with time and how they change between different
      patients with MPSIVA. These unusual chemicals were recently discovered in the urine from
      patients with MPSIVA. The investigators would like to study these chemicals before a specific
      enzyme replacement therapy is used. If the investigators understand how these chemicals
      change, the investigators may be able to use them to monitor this condition in the near
      future as well as help doctors know whether certain therapies work well in their patients.
This is not a clinical trial and there is no outcome measurement. The biomarkers in this
      study are oligosaccharides that secreted in the urine from patients with MPSIVa. In this
      study, we will try to define the variability of these oligosaccharides in the same patient at
      different time points, including different month of a year and different collections during
      the day as well as variations of these oligosaccharide in different affected patients.
observational model: Case-Only
time perspective: Prospective
measure: Quantification of urinary oligosaccharides in urine from a first morning void in patients with Mucopolysaccharidosis IVA.
time frame: Every 2 months over the course of a year.
description: The variability of oligosaccharides in the same patient over different time points and urine specimen type will be evaluated.
measure: Quantification of urinary oligosaccharides in urine from a random collection in patients with Mucopolysaccharidosis IVA.
time frame: One urine over the course of a year or 6M
description: The variability of oligosaccharides among different patients with MPSIVa will be evaluated.
arm group label: Mucopolysaccharidosis IVA
description: Patients with the condition.
Frozen urine
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Madhuri Hegde, PhD, FACMG
role: Principal Investigator
affiliation: Emory University
facility: 
country: United States
citation: Tiede S, Storch S, Lubke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T. Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase. Nat Med. 2005 Oct;11(10):1109-12. doi: 10.1038/nm1305. Epub 2005 Oct 2.
PMID: 16200072
citation: Walkley SU, Thrall MA, Haskins ME, Mitchell TW, Wenger DA, Brown DE, Dial S, Seim H. Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease. Neuropathol Appl Neurobiol. 2005 Oct;31(5):536-44. doi: 10.1111/j.1365-2990.2005.00675.x.
PMID: 16150124
responsible party type: Principal Investigator
investigator affiliation: Emory University
investigator full name: Madhuri Hegde
investigator title: Associate Professor
mesh term: Mucopolysaccharidoses
mesh term: Mucopolysaccharidosis IV
mesh term: Disease Progression