<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/NCT01707433</url>
  </required_header>
  <id_info>
    <org_study_id>MPSHIP</org_study_id>
    <nct_id>NCT01707433</nct_id>
  </id_info>
  <brief_title>Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease</brief_title>
  <official_title>Diagnosis of Mucopolysaccharidosis Disorders in Patients Presenting With Bilateral Hip Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Children's Hospitals and Clinics of Minnesota</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
    <collaborator>
      <agency>Greenwood Genetic Center</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Gillette Children's Specialty Healthcare</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Children's Hospitals and Clinics of Minnesota</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the&#xD;
      primary method for detecting mucopolysaccharidoses in children. This method may not be&#xD;
      sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency.&#xD;
      Investigators propose to identify patients retrospectively and prospectively who carry a&#xD;
      diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal&#xD;
      femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients,&#xD;
      investigators will perform enzyme testing on a blood sample which will identify MPS VI or&#xD;
      IVA.&#xD;
&#xD;
      Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with&#xD;
      medical management. Therefore, it is important to determine effective diagnostic methods.&#xD;
      Investigators believe that bilateral hip involvement should alert the clinician to the&#xD;
      possibility of MPS VI and further examination. The purpose of this study is to test the&#xD;
      hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients&#xD;
      with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS&#xD;
      studies.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>October 2012</start_date>
  <completion_date type="Actual">June 2015</completion_date>
  <primary_completion_date type="Actual">June 2015</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
  </study_design_info>
  <primary_outcome>
    <measure>Subjects identified with MPS IVA or VI</measure>
    <time_frame>2 years</time_frame>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">22</enrollment>
  <condition>Mucopolysaccharidosis IV A</condition>
  <condition>Mucopolysaccharidosis VI</condition>
  <arm_group>
    <arm_group_label>Diagnosis of hip disease</arm_group_label>
    <description>Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Enzyme testing</intervention_name>
    <description>Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)</description>
    <arm_group_label>Diagnosis of hip disease</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Males/females less than or equal to 21 years of age who have been seen at Gillette&#xD;
        Children's Specialty Healthcare or Children's Hospitals and Clinics of Minnesota and carry&#xD;
        a diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral&#xD;
        Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal dysplasia.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Less than or equal to 21 years of age&#xD;
&#xD;
          -  Diagnosis of spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or&#xD;
             bilateral Legg-Calve-Perthes disease or bilateral proximal femoral epiphyseal&#xD;
             dysplasia.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Definitive etiology for above-mentioned diagnosis (i.e. other MPS disease, known&#xD;
             chondrodysplasia, Meyer's dysplasia)&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>21 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Nancy Mendelsohn, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Children's Hospitals and Clinics of Minnesota</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Children's Hospitals and Clinics of Minnesota</name>
      <address>
        <city>Minneapolis</city>
        <state>Minnesota</state>
        <zip>55404</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Gillette Children's Specialty Healthcare</name>
      <address>
        <city>St Paul</city>
        <state>Minnesota</state>
        <zip>55101</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>July 2015</verification_date>
  <study_first_submitted>October 12, 2012</study_first_submitted>
  <study_first_submitted_qc>October 12, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 16, 2012</study_first_posted>
  <last_update_submitted>July 31, 2015</last_update_submitted>
  <last_update_submitted_qc>July 31, 2015</last_update_submitted_qc>
  <last_update_posted type="Estimate">August 4, 2015</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Children's Hospitals and Clinics of Minnesota</investigator_affiliation>
    <investigator_full_name>Nancy Mendelsohn</investigator_full_name>
    <investigator_title>Medical Director of Genetic Dept</investigator_title>
  </responsible_party>
  <keyword>spondyloepiphyseal dysplasia</keyword>
  <keyword>multiple epiphyseal dysplasia</keyword>
  <keyword>bilateral Legg Calve Perthes</keyword>
  <keyword>bilateral proximal femoral epiphyseal dysplasia</keyword>
  <keyword>GALNS</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Osteochondrodysplasias</mesh_term>
    <mesh_term>Mucopolysaccharidoses</mesh_term>
    <mesh_term>Mucopolysaccharidosis VI</mesh_term>
    <mesh_term>Mucopolysaccharidosis IV</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/NCT01707433
org study id: MPSHIP
nct id: NCT01707433
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
has dmc: No
BACKGROUND/OBJECTIVE: Quantitative urine screening for mucopolysaccharides (MPS) has been the
      primary method for detecting mucopolysaccharidoses in children. This method may not be
      sufficiently sensitive and may miss some patients with arylsulfatase B (ARSB) deficiency.
      Investigators propose to identify patients retrospectively and prospectively who carry a
      diagnosis of spondyloepiphyseal dysplasia, multiple epiphyseal dysplasia, bilateral proximal
      femoral epiphyseal dysplasia, or bilateral Legg-Calve-Perthes. For these patients,
      investigators will perform enzyme testing on a blood sample which will identify MPS VI or
      IVA.

      Patients who have an earlier diagnosis of MPS are likely to have better health outcomes with
      medical management. Therefore, it is important to determine effective diagnostic methods.
      Investigators believe that bilateral hip involvement should alert the clinician to the
      possibility of MPS VI and further examination. The purpose of this study is to test the
      hypothesis that the correct diagnoses of two MPS storage disorders are delayed in patients
      with bilateral proximal femoral epiphyseal dysplasia and normal quantitative urine MPS
      studies.
observational model: Cohort
measure: Subjects identified with MPS IVA or VI
time frame: 2 years
arm group label: Diagnosis of hip disease
description: Diagnosed with spondyloepiphyseal dysplasia or multiple epiphyseal dysplasia or bilateral Legg-Calve-Perthes disease, or bilateral proximal femoral epiphyseal dysplasia
intervention type: Other
intervention name: Enzyme testing
description: Leukocyte activity measurement of Arylsulfatase B and N acetyl galactosamine 6 sulfatase (GALNS)
arm group label: Diagnosis of hip disease
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 21 Years
healthy volunteers: No
last name: Nancy Mendelsohn, MD
role: Principal Investigator
affiliation: Children's Hospitals and Clinics of Minnesota
facility: 
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: Children's Hospitals and Clinics of Minnesota
investigator full name: Nancy Mendelsohn
investigator title: Medical Director of Genetic Dept
mesh term: Osteochondrodysplasias
mesh term: Mucopolysaccharidoses
mesh term: Mucopolysaccharidosis VI
mesh term: Mucopolysaccharidosis IV