<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/NCT02190266</url>
  </required_header>
  <id_info>
    <org_study_id>140146</org_study_id>
    <secondary_id>14-I-0146</secondary_id>
    <nct_id>NCT02190266</nct_id>
  </id_info>
  <brief_title>Pathogenesis and Genetics of Disseminated or Refractory Coccidioidomycosis</brief_title>
  <official_title>The Pathogenesis and Genetics of Disseminated or Refractory Coccidioidomycosis</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>National Institute of Allergy and Infectious Diseases (NIAID)</agency>
      <agency_class>NIH</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>University of Arizona</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>National Institutes of Health Clinical Center (CC)</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      Background:&#xD;
&#xD;
      - Coccidioidomycosis is caused by a fungus that grows in the southwest United States and&#xD;
      parts of Mexico and South America. This disease is caused by breathing dust containing the&#xD;
      fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect&#xD;
      other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays&#xD;
      in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People&#xD;
      with DCM or RCM may have difficulty fighting off infection because of immune system problems.&#xD;
      Researchers want to study the immune systems of people with DCM or RCM, to learn more about&#xD;
      the disease and the best ways to treat it. They also want to learn more about the types of&#xD;
      people that get DCM or RCM and about the fungus that causes it.&#xD;
&#xD;
      Objectives:&#xD;
&#xD;
      - To learn more about DCM and RCM, the fungus that causes these diseases, and the people who&#xD;
      get them.&#xD;
&#xD;
      Eligibility:&#xD;
&#xD;
      - People over age 2 with DCM or RCM.&#xD;
&#xD;
      Design:&#xD;
&#xD;
        -  Participants will be screened with a review of their medical records.&#xD;
&#xD;
        -  At the initial visit, participants will have:&#xD;
&#xD;
        -  Medical history and physical exam&#xD;
&#xD;
        -  Blood and urine tests. Some blood may be used for genetic testing. The samples will not&#xD;
           include participants names. Participants will be notified only if the tests show&#xD;
           something urgent about their DCM/RCM. Researchers think this sort of problem will be&#xD;
           rare.&#xD;
&#xD;
        -  Questionnaire about their DCM/RCM&#xD;
&#xD;
        -  Sputum (mucus) collection. They will spit into a cup.&#xD;
&#xD;
        -  Participants will have 1 follow-up visit per year. They will have blood tests. They may&#xD;
           have other procedures to treat their DCM/RCM.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Coccidioidomycosis (CM) is a fungal disease endemic to the southwestern United States,&#xD;
      Northern Mexico, and parts of South America. About 150,000 CM infections are estimated to&#xD;
      occur in the United States each year, of which 60% are thought to be asymptomatic.&#xD;
      Symptomatic patients typically present with a respiratory syndrome likened to&#xD;
      community-acquired pneumonia, while less than 1% of infected individuals are thought to&#xD;
      develop refractory disease with or without dissemination. Disseminated infection rarely&#xD;
      resolves spontaneously and, although any organ can be affected, tends to involve the skin,&#xD;
      lymph nodes, central nervous system and/or the skeletal system. While the risk of&#xD;
      disseminated infection is increased in immune suppressed patients, many individuals with no&#xD;
      significant prior history have developed debilitating, widespread infection. Causes of&#xD;
      refractory and/or disseminated disease in previously healthy individuals have only recently&#xD;
      begun to be elucidated, including mutations in the IFNy/IL-12 pathway.&#xD;
&#xD;
      We seek to better characterize the genetic predisposition and treatment of refractory&#xD;
&#xD;
      and/or disseminated coccidioidomycosis. Specifically, we will examine multiple immune&#xD;
      factors, characterize the demographics of patients afflicted with this disease, and examine&#xD;
      the phylogeny of the infecting organisms. This information will reveal endogenous pathways&#xD;
      that might be targets for therapeutic intervention.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">September 2, 2014</start_date>
  <completion_date type="Anticipated">July 31, 2029</completion_date>
  <primary_completion_date type="Anticipated">July 31, 2029</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>Cross-Sectional</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Study patients with refractory and/or disseminated coccidioidomycosis in order to identify known and novel immune defects, characterize the demographics of patients afflicted with this disease, follow disease progression in patients, and charact...</measure>
    <time_frame>Ongoing</time_frame>
    <description>Collecting information on coccidioidomycosis.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">400</enrollment>
  <condition>Coccidioidomycosis</condition>
  <arm_group>
    <arm_group_label>Patients</arm_group_label>
    <description>Patients with confirmed refractory and/or disseminated coccidioidomycosis.</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Patients with confirmed refractory and/or disseminated coccidioidomycosis.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        -  INCLUSION CRITERIA:&#xD;
&#xD;
        To be eligible for this study, potential participants must meet the following criteria:&#xD;
&#xD;
          1. Age greater than or equal to 2 years old.&#xD;
&#xD;
             a. Enrollment of pediatric patients who are acutely ill or likely to become acutely&#xD;
             ill will be deferred until a time when they are considered medically stable by the PI.&#xD;
&#xD;
          2. Have a positive Coccidioides antigen load or culture proven (a) refractory pulmonary&#xD;
             coccidioidomycosis or (b) disseminated coccidioidomycosis.&#xD;
&#xD;
               1. Refractory pulmonary coccidioidomycosis must have occurred for at least 6 months&#xD;
                  and includes progressive pulmonary involvement without significant pulmonary&#xD;
                  cavitation.&#xD;
&#xD;
               2. Disseminated CM is coccidioidomycosis infection in one or more regions outside of&#xD;
                  the chest.&#xD;
&#xD;
          3. Agree to undergo genetic testing.&#xD;
&#xD;
          4. Allow their samples to be stored for future research.&#xD;
&#xD;
        EXCLUSION CRITERIA:&#xD;
&#xD;
          1. HIV infection&#xD;
&#xD;
          2. Currently taking more than 20 mg/day of prednisone or undergoing active&#xD;
             immunosuppressive therapy in the opinion of the investigator&#xD;
&#xD;
          3. Any medical, psychiatric, social condition, occupational reason or other&#xD;
             responsibility that, in the judgment of the investigator, is a contraindication to&#xD;
             protocol participation or impairs a volunteer s ability to give informed consent.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>2 Years</minimum_age>
    <maximum_age>100 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Steven M Holland, M.D.</last_name>
    <role>Principal Investigator</role>
    <affiliation>National Institute of Allergy and Infectious Diseases (NIAID)</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Samantha A Kreuzburg, R.N.</last_name>
    <phone>(301) 443-2163</phone>
    <email>samantha.kreuzburg@nih.gov</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Steven M Holland, M.D.</last_name>
    <phone>(301) 402-7684</phone>
    <email>sholland@mail.nih.gov</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>National Institutes of Health Clinical Center</name>
      <address>
        <city>Bethesda</city>
        <state>Maryland</state>
        <zip>20892</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)</last_name>
      <phone>800-411-1222</phone>
      <phone_ext>TTY dial 711</phone_ext>
      <email>ccopr@nih.gov</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2014-I-0146.html</url>
    <description>NIH Clinical Center Detailed Web Page</description>
  </link>
  <verification_date>September 14, 2023</verification_date>
  <study_first_submitted>July 12, 2014</study_first_submitted>
  <study_first_submitted_qc>July 12, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">July 15, 2014</study_first_posted>
  <last_update_submitted>September 15, 2023</last_update_submitted>
  <last_update_submitted_qc>September 15, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">September 18, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Extrapulmonary</keyword>
  <keyword>Immunodeficiency</keyword>
  <keyword>Genetics</keyword>
  <keyword>Infection</keyword>
  <keyword>Fungal</keyword>
  <keyword>Natural History</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Coccidioidomycosis</mesh_term>
    <mesh_term>Coccidiosis</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/NCT02190266
org study id: 140146
secondary id: 14-I-0146
nct id: NCT02190266
lead sponsor: 
collaborator: 
is fda regulated drug: No
is fda regulated device: No
Background:

      - Coccidioidomycosis is caused by a fungus that grows in the southwest United States and
      parts of Mexico and South America. This disease is caused by breathing dust containing the
      fungus. It can lead to serious lung and breathing problems. Rarely, the fungus can infect
      other body parts. This is called disseminated coccidioidomycosis (DCM). If the fungus stays
      in the lungs for more than 6 months, it is called refractory coccidioidomycosis (RCM). People
      with DCM or RCM may have difficulty fighting off infection because of immune system problems.
      Researchers want to study the immune systems of people with DCM or RCM, to learn more about
      the disease and the best ways to treat it. They also want to learn more about the types of
      people that get DCM or RCM and about the fungus that causes it.

      Objectives:

      - To learn more about DCM and RCM, the fungus that causes these diseases, and the people who
      get them.

      Eligibility:

      - People over age 2 with DCM or RCM.

      Design:

        -  Participants will be screened with a review of their medical records.

        -  At the initial visit, participants will have:

        -  Medical history and physical exam

        -  Blood and urine tests. Some blood may be used for genetic testing. The samples will not
           include participants names. Participants will be notified only if the tests show
           something urgent about their DCM/RCM. Researchers think this sort of problem will be
           rare.

        -  Questionnaire about their DCM/RCM

        -  Sputum (mucus) collection. They will spit into a cup.

        -  Participants will have 1 follow-up visit per year. They will have blood tests. They may
           have other procedures to treat their DCM/RCM.
Coccidioidomycosis (CM) is a fungal disease endemic to the southwestern United States,
      Northern Mexico, and parts of South America. About 150,000 CM infections are estimated to
      occur in the United States each year, of which 60% are thought to be asymptomatic.
      Symptomatic patients typically present with a respiratory syndrome likened to
      community-acquired pneumonia, while less than 1% of infected individuals are thought to
      develop refractory disease with or without dissemination. Disseminated infection rarely
      resolves spontaneously and, although any organ can be affected, tends to involve the skin,
      lymph nodes, central nervous system and/or the skeletal system. While the risk of
      disseminated infection is increased in immune suppressed patients, many individuals with no
      significant prior history have developed debilitating, widespread infection. Causes of
      refractory and/or disseminated disease in previously healthy individuals have only recently
      begun to be elucidated, including mutations in the IFNy/IL-12 pathway.

      We seek to better characterize the genetic predisposition and treatment of refractory

      and/or disseminated coccidioidomycosis. Specifically, we will examine multiple immune
      factors, characterize the demographics of patients afflicted with this disease, and examine
      the phylogeny of the infecting organisms. This information will reveal endogenous pathways
      that might be targets for therapeutic intervention.
observational model: Cohort
time perspective: Cross-Sectional
measure: Study patients with refractory and/or disseminated coccidioidomycosis in order to identify known and novel immune defects, characterize the demographics of patients afflicted with this disease, follow disease progression in patients, and charact...
time frame: Ongoing
description: Collecting information on coccidioidomycosis.
arm group label: Patients
description: Patients with confirmed refractory and/or disseminated coccidioidomycosis.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 2 Years
maximum age: 100 Years
healthy volunteers: No
last name: Steven M Holland, M.D.
role: Principal Investigator
affiliation: National Institute of Allergy and Infectious Diseases (NIAID)
last name: Samantha A Kreuzburg, R.N.
phone: (301) 443-2163
email: samantha.kreuzburg@nih.gov
last name: Steven M Holland, M.D.
phone: (301) 402-7684
email: sholland@mail.nih.gov
facility: 
status: Recruiting
contact: 
country: United States
url: https://clinicalstudies.info.nih.gov/cgi/detail.cgi?A_2014-I-0146.html
description: NIH Clinical Center Detailed Web Page
responsible party type: Sponsor
mesh term: Coccidioidomycosis
mesh term: Coccidiosis