<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/NCT02208661</url>
  </required_header>
  <id_info>
    <org_study_id>IRB00072780</org_study_id>
    <nct_id>NCT02208661</nct_id>
  </id_info>
  <brief_title>Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy (The MAPLE Study)</brief_title>
  <acronym>MAPLE</acronym>
  <official_title>Psychological Concomitants of Morquio A Syndrome - Longitudinal Effects of Enzyme Replacement Therapy</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Nadia Ali, PhD</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>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal&#xD;
      recessive genetic lysosomal storage disorder. Research thus far regarding Morquio, has&#xD;
      primarily focused on the physical aspects of the various diseases. Less attention has been&#xD;
      paid to the psychological toll of these diseases, whether they are direct symptoms or&#xD;
      reactions to living with a chronic progressive disease.&#xD;
&#xD;
      Prior to 2013, there was neither a cure nor treatment (other than palliative) for Morquio&#xD;
      disease. In the latter half of 2013, ERT became available to the broader population of&#xD;
      patients with Morquio A disease through BioMarin's Expanded Access Program.&#xD;
&#xD;
      In a previous study, entitled &quot;Psychological Concomitants of Morquio syndrome&quot; the present&#xD;
      investigator enrolled 20 adult subjects with Morquio into a pilot study to estimate a&#xD;
      baseline incidence of psychological symptoms and overall quality of life. Subjects were all&#xD;
      over the age of 18. Data from this study were published in 2015.&#xD;
&#xD;
      The present study extends this research into psychological health with Morquio via a&#xD;
      comparison of psychological issues and quality of life before and after treatment (i.e. ERT).&#xD;
      As ERT does not cross the blood-brain barrier, it would be unlikely to improve organic&#xD;
      psychological symptoms, but may improve any reactive psychological symptoms caused by living&#xD;
      over time with this chronic progressive genetic disease.&#xD;
&#xD;
      The present study thus seeks to follow adult patients with Morquio A disease as they begin&#xD;
      ERT and track their psychological health every 6 months for a duration of 2 years. Adult&#xD;
      patients with Morquio disease are invited to participate. Subjects will complete three&#xD;
      different self-report questionnaires, the Achenbach System of Empirically Based Assessment&#xD;
      (ASEBA) Adult Self-Report (ASR), the Short Form 36-item Health Questionnaire (SF-36), and the&#xD;
      Brief Pain Inventory (BPI). Group aggregate data will be reported; individual questionnaire&#xD;
      content and results will be held confidential, except as in accordance with Georgia law&#xD;
      relating to reporting of child or elder abuse, suicidal and/or homicidal intent.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal&#xD;
      recessive genetic lysosomal storage disorder. Research thus far regarding lysosomal storage&#xD;
      diseases (LSDs) in general, including Morquio, has primarily focused on exploring the causes&#xD;
      of and finding a treatment for the physical aspects of the various diseases. Less attention&#xD;
      has been paid to the psychological or emotional toll of these diseases, whether they are&#xD;
      direct symptoms of the diseases themselves or reactions to living with a chronic progressive&#xD;
      disease.&#xD;
&#xD;
      It is well established in the health psychology literature, however, that the interaction&#xD;
      between our physical health and our psychological health is bidirectional; that is, just as&#xD;
      our physical health affects us emotionally (e.g. chronic pain can contribute to depression),&#xD;
      so can our psychological health affect us physically (e.g. anxiety can contribute to feelings&#xD;
      of chest pain). It is thus critically important to pay attention to the emotional and&#xD;
      psychological symptoms associated with all lysosomal storage diseases, including Morquio, and&#xD;
      expand our treatment standard of care to include mental health treatment, if necessary.&#xD;
&#xD;
      The first step in understanding and treating psychological conditions in Morquio disease is&#xD;
      determining the natural occurrence of psychological symptoms in this population in comparison&#xD;
      with non-medical populations. As little has been done in this regard, a pilot study&#xD;
      documenting the occurrence rate of psychological issues and overall quality of life in&#xD;
      patients with Morquio is the first item in order and will be the focus of this study.&#xD;
&#xD;
      Approximately 20 patients with Morquio disease will be invited to participate, recruited&#xD;
      through Emory's Lysosomal Storage Disease Center, as well as through attendance at Morquio&#xD;
      support groups and relevant regional, national and/or international meetings. Once consented,&#xD;
      patients will be asked to complete three different self-report questionnaires, including the&#xD;
      Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR) or Older&#xD;
      Adult Self-Report (OASR) questionnaire, the Short Form 36-item Health Questionnaire (SF-36),&#xD;
      and the Brief Pain Inventory (BPI). Group aggregate data only will be reported; individual&#xD;
      questionnaire content and results will be held confidential, except as in accordance with&#xD;
      Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent.&#xD;
      Completion of these questionnaires will complete subjects' participation in this pilot study.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>March 2014</start_date>
  <completion_date type="Actual">March 2018</completion_date>
  <primary_completion_date type="Actual">March 2018</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>ASEBA Self-Report</measure>
    <time_frame>Every 6 months for 2 years</time_frame>
    <description>Self-report questionnaire assessing psychological and adaptive functioning</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Brief Pain Inventory</measure>
    <time_frame>Every 6 months for 2 years</time_frame>
    <description>Self-report measure of subjective pain levels and interference of pain in daily functioning</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>SF-36</measure>
    <time_frame>Every 6 months for 2 years</time_frame>
    <description>Brief self-report measure of quality of life</description>
  </secondary_outcome>
  <enrollment type="Actual">12</enrollment>
  <condition>Morquio A Syndrome</condition>
  <condition>Mucopolysaccharidosis IV A</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Adults with Morquio A syndrome&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Documented clinical diagnosis of MPS IVA based on clinical signs and symptoms of MPS&#xD;
             IVA and documented reduced fibroblast or leukocyte GALNS enzyme activity or genetic&#xD;
             testing confirming diagnosis of MPS IVA.&#xD;
&#xD;
          2. Subject is at least 18 years old.&#xD;
&#xD;
          3. Subject must provide informed consent prior to study participation.&#xD;
&#xD;
          4. Subject was a participant in the MAP study (Phase I) and is now receiving (or plans to&#xD;
             receive in the near future) enzyme replacement therapy in the EAP or commercial&#xD;
             setting. If receiving ERT for the treatment of Morquio A syndrome, subject has been on&#xD;
             treatment for less than 1 year.&#xD;
&#xD;
             -or-&#xD;
&#xD;
          5. Subject was not enrolled in the MAP study, but plans to start receiving ERT for&#xD;
             Morquio A syndrome in the near future and is willing to take all baseline&#xD;
             questionnaires which were included in MAP, prior to beginning ERT for Morquio A&#xD;
             syndrome .&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  1. Previous treatment with ERT prior to participation in phase 1(MAP).&#xD;
&#xD;
             2. Previous hematopoietic stem-cell transplant&#xD;
&#xD;
             3. Patient has a clinically significant disease (with the exception of symptoms of&#xD;
             Morquio A syndrome), including clinically significant cardiovascular, hepatic,&#xD;
             immunologic, pulmonary, neurologic, or renal disease, or other medical condition,&#xD;
             serious intercurrent illness, or extenuating circumstances that, in the opinion of the&#xD;
             investigator, would confound the effects of Morquio A syndrome upon study variables.&#xD;
&#xD;
             4. Any condition that, in the view of the Investigator, places the patient at high&#xD;
             risk of poor compliance or of not completing the study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Nadia Ali, Ph.D.</last_name>
    <role>Principal Investigator</role>
    <affiliation>Emory University</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Emory University</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>
  <verification_date>April 2018</verification_date>
  <study_first_submitted>August 1, 2014</study_first_submitted>
  <study_first_submitted_qc>August 1, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 5, 2014</study_first_posted>
  <last_update_submitted>April 9, 2018</last_update_submitted>
  <last_update_submitted_qc>April 9, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">April 11, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor-Investigator</responsible_party_type>
    <investigator_affiliation>Emory University</investigator_affiliation>
    <investigator_full_name>Nadia Ali, PhD</investigator_full_name>
    <investigator_title>Health Psychologist</investigator_title>
  </responsible_party>
  <keyword>Morquio A syndrome</keyword>
  <keyword>Mucopolysaccharidosis IV A</keyword>
  <keyword>Psychological health</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 IV</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
    <ipd_description>There is no plan to share IPD with other researchers</ipd_description>
  </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/NCT02208661
org study id: IRB00072780
nct id: NCT02208661
lead sponsor: 
collaborator: 
has dmc: Yes
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal
      recessive genetic lysosomal storage disorder. Research thus far regarding Morquio, has
      primarily focused on the physical aspects of the various diseases. Less attention has been
      paid to the psychological toll of these diseases, whether they are direct symptoms or
      reactions to living with a chronic progressive disease.

      Prior to 2013, there was neither a cure nor treatment (other than palliative) for Morquio
      disease. In the latter half of 2013, ERT became available to the broader population of
      patients with Morquio A disease through BioMarin's Expanded Access Program.

      In a previous study, entitled "Psychological Concomitants of Morquio syndrome" the present
      investigator enrolled 20 adult subjects with Morquio into a pilot study to estimate a
      baseline incidence of psychological symptoms and overall quality of life. Subjects were all
      over the age of 18. Data from this study were published in 2015.

      The present study extends this research into psychological health with Morquio via a
      comparison of psychological issues and quality of life before and after treatment (i.e. ERT).
      As ERT does not cross the blood-brain barrier, it would be unlikely to improve organic
      psychological symptoms, but may improve any reactive psychological symptoms caused by living
      over time with this chronic progressive genetic disease.

      The present study thus seeks to follow adult patients with Morquio A disease as they begin
      ERT and track their psychological health every 6 months for a duration of 2 years. Adult
      patients with Morquio disease are invited to participate. Subjects will complete three
      different self-report questionnaires, the Achenbach System of Empirically Based Assessment
      (ASEBA) Adult Self-Report (ASR), the Short Form 36-item Health Questionnaire (SF-36), and the
      Brief Pain Inventory (BPI). Group aggregate data will be reported; individual questionnaire
      content and results will be held confidential, except as in accordance with Georgia law
      relating to reporting of child or elder abuse, suicidal and/or homicidal intent.
Mucopolysaccharidosis IV, also known as MPS IV or Morquio disease, is a rare autosomal
      recessive genetic lysosomal storage disorder. Research thus far regarding lysosomal storage
      diseases (LSDs) in general, including Morquio, has primarily focused on exploring the causes
      of and finding a treatment for the physical aspects of the various diseases. Less attention
      has been paid to the psychological or emotional toll of these diseases, whether they are
      direct symptoms of the diseases themselves or reactions to living with a chronic progressive
      disease.

      It is well established in the health psychology literature, however, that the interaction
      between our physical health and our psychological health is bidirectional; that is, just as
      our physical health affects us emotionally (e.g. chronic pain can contribute to depression),
      so can our psychological health affect us physically (e.g. anxiety can contribute to feelings
      of chest pain). It is thus critically important to pay attention to the emotional and
      psychological symptoms associated with all lysosomal storage diseases, including Morquio, and
      expand our treatment standard of care to include mental health treatment, if necessary.

      The first step in understanding and treating psychological conditions in Morquio disease is
      determining the natural occurrence of psychological symptoms in this population in comparison
      with non-medical populations. As little has been done in this regard, a pilot study
      documenting the occurrence rate of psychological issues and overall quality of life in
      patients with Morquio is the first item in order and will be the focus of this study.

      Approximately 20 patients with Morquio disease will be invited to participate, recruited
      through Emory's Lysosomal Storage Disease Center, as well as through attendance at Morquio
      support groups and relevant regional, national and/or international meetings. Once consented,
      patients will be asked to complete three different self-report questionnaires, including the
      Achenbach System of Empirically Based Assessment (ASEBA) Adult Self-Report (ASR) or Older
      Adult Self-Report (OASR) questionnaire, the Short Form 36-item Health Questionnaire (SF-36),
      and the Brief Pain Inventory (BPI). Group aggregate data only will be reported; individual
      questionnaire content and results will be held confidential, except as in accordance with
      Georgia law relating to reporting of child or elder abuse, suicidal and/or homicidal intent.
      Completion of these questionnaires will complete subjects' participation in this pilot study.
observational model: Cohort
time perspective: Prospective
measure: ASEBA Self-Report
time frame: Every 6 months for 2 years
description: Self-report questionnaire assessing psychological and adaptive functioning
measure: Brief Pain Inventory
time frame: Every 6 months for 2 years
description: Self-report measure of subjective pain levels and interference of pain in daily functioning
measure: SF-36
time frame: Every 6 months for 2 years
description: Brief self-report measure of quality of life
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Nadia Ali, Ph.D.
role: Principal Investigator
affiliation: Emory University
facility: 
country: United States
responsible party type: Sponsor-Investigator
investigator affiliation: Emory University
investigator full name: Nadia Ali, PhD
investigator title: Health Psychologist
mesh term: Osteochondrodysplasias
mesh term: Mucopolysaccharidoses
mesh term: Mucopolysaccharidosis IV
mesh term: Syndrome
sharing ipd: No
ipd description: There is no plan to share IPD with other researchers