<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/NCT04503213</url>
  </required_header>
  <id_info>
    <org_study_id>20-006124</org_study_id>
    <nct_id>NCT04503213</nct_id>
  </id_info>
  <brief_title>A Study to Assess CSF1R-related Leukoencephalopathy After Stem Cell Transplantation</brief_title>
  <official_title>Longitudinal Assessment of CSF1R-Related Leukoencephalopathy Following Stem Cell Transplantation</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Mayo Clinic</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Mayo Clinic</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation&#xD;
      (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Enrolling by invitation</overall_status>
  <start_date type="Actual">July 21, 2020</start_date>
  <completion_date type="Anticipated">December 2025</completion_date>
  <primary_completion_date type="Anticipated">December 2025</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>Improvement in cognitive and motor function</measure>
    <time_frame>Through study completion, approximately 5 years</time_frame>
    <description>Number of participants to demonstrate stability/improvements in cognitive and motor function by detailed clinical assessment and radiographic markers of disease.</description>
  </primary_outcome>
  <enrollment type="Anticipated">20</enrollment>
  <condition>CSF1R-related Leukoencephalopathy</condition>
  <condition>ALSP</condition>
  <condition>POLD</condition>
  <condition>Hematopoietic Stem Cell Transplantation</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Subjects will be identified through the Mayo Clinic Florida Neurology and/or Hematology&#xD;
        Departments. Qualifying individuals will be identified on the basis of a&#xD;
        genetically-confirmed diagnosis of CSF1R-related leukoencephalopathy and a tentative&#xD;
        treatment plan including haematopoietic stem cell transplantation (HSCT).&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  ≥ 18 years of age.&#xD;
&#xD;
          -  Genetic confirmation of a mutation in the CSF1R gene.&#xD;
&#xD;
          -  Diagnosis of CSF1R-related leukoencephalopathy.&#xD;
&#xD;
          -  Anticipated to undergo haematopoietic stem cell transplantation (HSCT).&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Concurrent diagnoses that may confound neuropsychological testing; e.g., major&#xD;
             hearing/visual impairment.&#xD;
&#xD;
          -  Concurrent diagnoses that may confound ambulatory measurements; e.g., amputee.&#xD;
&#xD;
          -  Inability to undergo magnetic resonance imaging (MRI); e.g., MR-incompatible implant.&#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>Zbigniew K Wszolek, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Mayo Clinic</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Mayo Clinic in Florida</name>
      <address>
        <city>Jacksonville</city>
        <state>Florida</state>
        <zip>32224</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.mayo.edu/research/clinical-trials</url>
    <description>Mayo Clinic Clinical Trials</description>
  </link>
  <verification_date>September 2023</verification_date>
  <study_first_submitted>August 4, 2020</study_first_submitted>
  <study_first_submitted_qc>August 4, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">August 7, 2020</study_first_posted>
  <last_update_submitted>September 12, 2023</last_update_submitted>
  <last_update_submitted_qc>September 12, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">September 14, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Mayo Clinic</investigator_affiliation>
    <investigator_full_name>Zbigniew K. Wszolek</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <keyword>HDLS, Leukoencephalopathy</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Leukoencephalopathies</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </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/NCT04503213
org study id: 20-006124
nct id: NCT04503213
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The purpose of this study is to measure the effect of Hematopoietic Stem Cell Transplantation
      (HSCT) on symptoms of CSF1R-related Leukoencephalopathy.
observational model: Case-Only
time perspective: Prospective
measure: Improvement in cognitive and motor function
time frame: Through study completion, approximately 5 years
description: Number of participants to demonstrate stability/improvements in cognitive and motor function by detailed clinical assessment and radiographic markers of disease.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Zbigniew K Wszolek, MD
role: Principal Investigator
affiliation: Mayo Clinic
facility: 
country: United States
url: https://www.mayo.edu/research/clinical-trials
description: Mayo Clinic Clinical Trials
responsible party type: Principal Investigator
investigator affiliation: Mayo Clinic
investigator full name: Zbigniew K. Wszolek
investigator title: Principal Investigator
mesh term: Leukoencephalopathies
sharing ipd: No