<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/NCT01675674</url>
  </required_header>
  <id_info>
    <org_study_id>RHE-001</org_study_id>
    <nct_id>NCT01675674</nct_id>
  </id_info>
  <brief_title>Study to Detect Unrecognized Mucopolysaccharidosis in Children Visiting Rheumatology, Hand or Skeletal Dysplasia Clinics</brief_title>
  <official_title>Unrecognized Mucopolysaccharidosis I, II, IVA, and VI in the Pediatric Rheumatology Population</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>National MPS Society</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>MediResource Inc.</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>National MPS Society</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study is being done to learn how many children and young adults who come to pediatric&#xD;
      rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types&#xD;
      of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening&#xD;
      program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology&#xD;
      clinics because the first symptoms of MPS are often joint problems such as stiff joints, and&#xD;
      rheumatologists may be the first doctors that a patient with MPS visits. The study will also&#xD;
      evaluate the utility of dried blood spot testing for MPS.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of&#xD;
      rare inherited diseases that affect about 1 in every 25,000 people in the United States.&#xD;
      There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter&#xD;
      syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome),&#xD;
      VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break&#xD;
      down certain materials in the body's cells. These materials then build up in the cells,&#xD;
      causing problems such as stiff joints, misshapen bones, curled hands and reduced hand&#xD;
      function, frequent ear infections, vision and hearing problems, &quot;thickened&quot; facial features,&#xD;
      and heart problems. Getting access to diagnosis and treatment can help make MPS easier to&#xD;
      manage; but unfortunately, people with MPS may go undiagnosed for many years.&#xD;
&#xD;
      This study is being done to learn how many children and young adults who come to pediatric&#xD;
      rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types&#xD;
      of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening&#xD;
      program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology&#xD;
      clinics because the first symptoms of MPS are often joint problems such as stiff joints, and&#xD;
      rheumatologists may be the first doctors that a patient with MPS visits.&#xD;
&#xD;
      The study will use dried blood spot (DBS) testing to screen for these types of MPS. It will&#xD;
      also use a survey to evaluate the utility and convenience of dried blood spot testing for&#xD;
      MPS.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Terminated</overall_status>
  <why_stopped>
    Funding withdrawn due to insufficient enrollment rate&#xD;
  </why_stopped>
  <start_date>September 2011</start_date>
  <completion_date type="Anticipated">March 2014</completion_date>
  <primary_completion_date type="Anticipated">March 2014</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <primary_outcome>
    <measure>Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics</measure>
    <time_frame>At study completion (approximately 18 months after the beginning of the study)</time_frame>
    <description>Each patient is screened for MPS I, II, IVA, and VI after enrolling in the study. The results for all patients will be pooled when the study is completed (expected completion approx. 18 months after the study begins).</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Utility of DBS testing to screen for MPS in pediatric patients</measure>
    <time_frame>At study completion (approximately 18 months after the beginning of the study)</time_frame>
    <description>For the secondary endpoint (utility of DBS testing), the following data will be collected: ease of taking and sending the DBS sample; number of errors of sample taking; adverse events (if any) associated with blood sampling by finger prick or venipuncture (for subjects over one year of age; choose whichever method is most convenient) or heel prick (for subjects under one year of age); and comfort of patients and/or their parents with the test.&#xD;
Study personnel who performed DBS testing will also be asked to complete a brief survey about the utility of DBS testing.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">3000</enrollment>
  <condition>Mucopolysaccharidoses</condition>
  <condition>Mucopolysaccharidosis I</condition>
  <condition>Mucopolysaccharidosis II</condition>
  <condition>Mucopolysaccharidosis IV</condition>
  <condition>Mucopolysaccharidosis VI</condition>
  <arm_group>
    <arm_group_label>Dried blood spot test for MPS</arm_group_label>
    <description>For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE &quot;highly suspicious&quot; symptom or at least TWO &quot;less suspicious&quot; symptoms that may be indicative of an MPS disorder (see inclusion criteria).&#xD;
For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE &quot;highly suspicious&quot; symptom or at least TWO &quot;less suspicious&quot; symptoms that may be indicative of an MPS disorder (see inclusion criteria).</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Dried blood spot test for MPS</intervention_name>
    <description>The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).</description>
    <arm_group_label>Dried blood spot test for MPS</arm_group_label>
    <other_name>DBS testing</other_name>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        For the prospective study, subjects will be drawn from all children (aged 6 months to 18&#xD;
        years) with a history of presenting to selected clinics (pediatric rheumatology, pediatric&#xD;
        hand, or skeletal dysplasia clinic), with at least ONE &quot;highly suspicious&quot; symptom or at&#xD;
        least TWO &quot;less suspicious&quot; symptoms that may be indicative of an MPS disorder (see&#xD;
        inclusion criteria).&#xD;
&#xD;
        For the retrospective chart review, subjects will be drawn from all children who were 6&#xD;
        months to 18 years of age at the time of first presentation to selected clinics (pediatric&#xD;
        rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE &quot;highly&#xD;
        suspicious&quot; symptom or at least TWO &quot;less suspicious&quot; symptoms that may be indicative of an&#xD;
        MPS disorder (see inclusion criteria).&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. History of presenting to the pediatric rheumatology, pediatric hand, or skeletal&#xD;
             dysplasia clinic with at least ONE &quot;highly suspicious&quot; symptom or at least TWO &quot;less&#xD;
             suspicious&quot; symptoms that may be indicative of an MPS disorder (see below):&#xD;
&#xD;
             Highly suspicious symptoms:&#xD;
&#xD;
               -  characteristic facial features&#xD;
&#xD;
               -  hearing loss&#xD;
&#xD;
               -  corneal clouding&#xD;
&#xD;
               -  cardiac manifestations&#xD;
&#xD;
               -  dysostosis multiplex&#xD;
&#xD;
               -  hepatosplenomegaly&#xD;
&#xD;
               -  spinal cord compression&#xD;
&#xD;
               -  hydrocephalus&#xD;
&#xD;
               -  carpal tunnel syndrome&#xD;
&#xD;
               -  delayed mental development or regression in mental development&#xD;
&#xD;
             Less suspicious symptoms:&#xD;
&#xD;
               -  short stature&#xD;
&#xD;
               -  extensive Mongolian spots&#xD;
&#xD;
               -  sleep apnea&#xD;
&#xD;
               -  copious nasal discharge&#xD;
&#xD;
               -  recurrent otitis media, ear fluid that will not drain, or the presence of ear&#xD;
                  tubes&#xD;
&#xD;
               -  frequent upper respiratory tract infections&#xD;
&#xD;
               -  joint stiffness or limited range of motion&#xD;
&#xD;
               -  hand problems (Claw hands or reduced hand function)&#xD;
&#xD;
               -  hernia (inguinal or umbilical)&#xD;
&#xD;
               -  abnormally shaped teeth&#xD;
&#xD;
               -  dental cysts&#xD;
&#xD;
               -  tooth abscess&#xD;
&#xD;
          2. Age of at least 6 months.&#xD;
&#xD;
          3. Age under 18 years at time of initial clinic presentation.&#xD;
&#xD;
          4. Written, signed, and dated informed consent obtained from the subject (if 18 years of&#xD;
             age) or the subject's parents (if under 18). Written, dated, and signed assent from&#xD;
             children is also required at some centers.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Under 6 months of age.&#xD;
&#xD;
          2. Over 18 years of age at initial clinic presentation.&#xD;
&#xD;
          3. Patients who have had confirmation of an MPS disorder by biochemical analysis and/or&#xD;
             by molecular biology.&#xD;
&#xD;
          4. Patients for whom MPS enzyme activity tests (i.e., enzyme levels tested in&#xD;
             fibroblasts, leukocytes, serum, or blood spots) have already been performed, and for&#xD;
             which the result was normal. (Patients who have been screened for MPS through urinary&#xD;
             GAG and tested normal will not be excluded from the study.)&#xD;
&#xD;
          5. Written informed consent not available.&#xD;
&#xD;
          6. Subject unwilling or unable to provide the necessary blood spot for analysis.&#xD;
&#xD;
          7. Any other condition that would, in the opinion of the investigator, interfere with the&#xD;
             participant's ability to provide informed consent, comply with study instructions, or&#xD;
             possibly confound interpretation of study results.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>6 Months</minimum_age>
    <maximum_age>18 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Thomas JA Lehman, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of Medicine and Dentistry of New Jersey</name>
      <address>
        <city>New Brunswick</city>
        <state>New Jersey</state>
        <zip>08901</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Hospital for Special Surgery</name>
      <address>
        <city>New York</city>
        <state>New York</state>
        <zip>10021</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <reference>
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  <verification_date>May 2013</verification_date>
  <study_first_submitted>August 23, 2012</study_first_submitted>
  <study_first_submitted_qc>August 27, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 30, 2012</study_first_posted>
  <last_update_submitted>May 23, 2013</last_update_submitted>
  <last_update_submitted_qc>May 23, 2013</last_update_submitted_qc>
  <last_update_posted type="Estimate">May 24, 2013</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Mucopolysaccharidoses</keyword>
  <keyword>Prevalence</keyword>
  <keyword>Pediatric</keyword>
  <keyword>Rheumatology</keyword>
  <keyword>Mucopolysaccharidosis I</keyword>
  <keyword>Mucopolysaccharidosis II</keyword>
  <keyword>Mucopolysaccharidosis IV</keyword>
  <keyword>Mucopolysaccharidosis VI</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Osteochondrodysplasias</mesh_term>
    <mesh_term>Mucopolysaccharidosis II</mesh_term>
    <mesh_term>Mucopolysaccharidoses</mesh_term>
    <mesh_term>Mucopolysaccharidosis I</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/NCT01675674
org study id: RHE-001
nct id: NCT01675674
lead sponsor: 
collaborator: 
has dmc: Yes
This study is being done to learn how many children and young adults who come to pediatric
      rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types
      of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening
      program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology
      clinics because the first symptoms of MPS are often joint problems such as stiff joints, and
      rheumatologists may be the first doctors that a patient with MPS visits. The study will also
      evaluate the utility of dried blood spot testing for MPS.
MPS, or mucopolysaccharidosis (mew-co-paw-lee-sack-a-rid-o-sis), disorders are a group of
      rare inherited diseases that affect about 1 in every 25,000 people in the United States.
      There are 7 MPS disorders: MPS I (Hurler, Hurler-Scheie, and Scheie syndromes), II (Hunter
      syndrome), III (Sanfilippo syndrome), IV (Morquio syndrome), VI (Maroteaux-Lamy syndrome),
      VII (Sly syndrome), and IX (no other name). In people who have MPS, the body cannot break
      down certain materials in the body's cells. These materials then build up in the cells,
      causing problems such as stiff joints, misshapen bones, curled hands and reduced hand
      function, frequent ear infections, vision and hearing problems, "thickened" facial features,
      and heart problems. Getting access to diagnosis and treatment can help make MPS easier to
      manage; but unfortunately, people with MPS may go undiagnosed for many years.

      This study is being done to learn how many children and young adults who come to pediatric
      rheumatology clinics may have mucopolysaccharidosis (MPS). The study tests for 4 of the types
      of MPS: I, II, IVA, and VI. This can help researchers decide whether to create a screening
      program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology
      clinics because the first symptoms of MPS are often joint problems such as stiff joints, and
      rheumatologists may be the first doctors that a patient with MPS visits.

      The study will use dried blood spot (DBS) testing to screen for these types of MPS. It will
      also use a survey to evaluate the utility and convenience of dried blood spot testing for
      MPS.
measure: Incidence of previously unrecognized MPS I, II, IVA, and VI in children presenting to pediatric rheumatology, hand, or skeletal dysplasia clinics
time frame: At study completion (approximately 18 months after the beginning of the study)
description: Each patient is screened for MPS I, II, IVA, and VI after enrolling in the study. The results for all patients will be pooled when the study is completed (expected completion approx. 18 months after the study begins).
measure: Utility of DBS testing to screen for MPS in pediatric patients
time frame: At study completion (approximately 18 months after the beginning of the study)
description: For the secondary endpoint (utility of DBS testing), the following data will be collected: ease of taking and sending the DBS sample; number of errors of sample taking; adverse events (if any) associated with blood sampling by finger prick or venipuncture (for subjects over one year of age; choose whichever method is most convenient) or heel prick (for subjects under one year of age); and comfort of patients and/or their parents with the test.
Study personnel who performed DBS testing will also be asked to complete a brief survey about the utility of DBS testing.
arm group label: Dried blood spot test for MPS
description: For the prospective study, subjects will be drawn from all children (aged 6 months to 18 years) with a history of presenting to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see inclusion criteria).
For the retrospective chart review, subjects will be drawn from all children who were 6 months to 18 years of age at the time of first presentation to selected clinics (pediatric rheumatology, pediatric hand, or skeletal dysplasia clinic), with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see inclusion criteria).
intervention type: Other
intervention name: Dried blood spot test for MPS
description: The dried blood spot test uses a few drops of blood on filter paper to screen for mucopolysaccharidoses (MPS I, MPS II, MPS IVA and MPS VI in this study).
arm group label: Dried blood spot test for MPS
other name: DBS testing
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 6 Months
maximum age: 18 Years
healthy volunteers: No
last name: Thomas JA Lehman, MD
role: Principal Investigator
affiliation: Chief, Division of Pediatric Rheumatology, Hospital for Special Surgery; Professor of Clinical Pediatrics, Cornell University
facility: 
facility: 
country: United States
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responsible party type: Sponsor
mesh term: Osteochondrodysplasias
mesh term: Mucopolysaccharidosis II
mesh term: Mucopolysaccharidoses
mesh term: Mucopolysaccharidosis I
mesh term: Mucopolysaccharidosis VI
mesh term: Mucopolysaccharidosis IV