<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/NCT03303716</url>
  </required_header>
  <id_info>
    <org_study_id>CIN_ASXLRegistry_001</org_study_id>
    <nct_id>NCT03303716</nct_id>
  </id_info>
  <brief_title>ASXL-Related Disorders Registry</brief_title>
  <official_title>Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of California, Los Angeles</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Boston Children's Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Children's Hospital Medical Center, Cincinnati</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Duke University</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>University of California, Los Angeles</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>
      A registry focused on the natural history, management and treatment of patients with&#xD;
      Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome&#xD;
      (ASXL3).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Study participants will be asked to complete a series of brief surveys over time about their&#xD;
      medical condition. The researchers will also attain primary medical records.The registry is&#xD;
      based at UCLA as the IRB of record with collaborating sites at Boston Children's Hospital,&#xD;
      Cincinnati Children's Hospital, and Duke University in a partnership with the Bohring-Opitz&#xD;
      Syndrome (BOS) Foundation and ASXL-Rare Research Endowment (ARRE). The BOS Foundation and&#xD;
      ARRE are non-profit organizations run by families of patients with ASXL-related disorders&#xD;
      that are focused on supporting research. The data is co-managed by the researchers and the&#xD;
      family groups. Aggregate data from the Registry will be shared with the participants as well&#xD;
      as used for publication. The Registry is HIPPA compliant and follows all the IRB requirements&#xD;
      regarding securing and managing patient data.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">September 20, 2017</start_date>
  <completion_date type="Anticipated">September 2037</completion_date>
  <primary_completion_date type="Anticipated">September 2037</primary_completion_date>
  <study_type>Observational [Patient Registry]</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>
  <target_duration>20 Years</target_duration>
  <primary_outcome>
    <measure>Natural history, treatment and management strategies of ASXL-related disorders</measure>
    <time_frame>20 years</time_frame>
    <description>Use participant surveys including the GRDR CDE standard questions to collect data on disease history and management. Attain primary medical records with goal of publications to enhance treatment, management and understanding of the natural history of ASXL gene disorders.</description>
  </primary_outcome>
  <enrollment type="Anticipated">200</enrollment>
  <condition>Bohring-Opitz Syndrome</condition>
  <condition>ASXL1 Gene Mutation</condition>
  <condition>Shashi-Pena Syndrome</condition>
  <condition>ASXL2 Gene Mutation</condition>
  <condition>Bainbridge-Ropers Syndrome</condition>
  <condition>ASXL3 Gene Mutation</condition>
  <eligibility>
    <study_pop>
      <textblock>
        All patients with molecularly proven or suspected ASXL related disorders&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Clinical or molecular diagnosis of an ASXL related disorder&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  No clinical or molecular diagnosis of an ASXL related disorder&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Wen-Hann Tan, BMBS</last_name>
    <role>Principal Investigator</role>
    <affiliation>Boston Children's Hospital</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Loren Pena, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Children's Hospital Medical Center, Cincinnati</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Vandana Shashi, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Duke University</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Bianca Russell, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of California, Los Angeles</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Bianca Russell, MD</last_name>
    <phone>(310) 206-6581</phone>
    <email>ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>University of California, Los Angeles</name>
      <address>
        <city>Los Angeles</city>
        <state>California</state>
        <zip>90095</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Bianca Russell, MD</last_name>
      <phone>310-206-6581</phone>
      <email>ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>November 2022</verification_date>
  <study_first_submitted>October 2, 2017</study_first_submitted>
  <study_first_submitted_qc>October 5, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">October 6, 2017</study_first_posted>
  <last_update_submitted>November 29, 2022</last_update_submitted>
  <last_update_submitted_qc>November 29, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">December 1, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of California, Los Angeles</investigator_affiliation>
    <investigator_full_name>Bianca E. Russell, MD</investigator_full_name>
    <investigator_title>Bianca Russell, MD</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</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/NCT03303716
org study id: CIN_ASXLRegistry_001
nct id: NCT03303716
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
is fda regulated drug: No
is fda regulated device: No
A registry focused on the natural history, management and treatment of patients with
      Bohring-Opitz Syndrome (ASXL1), Shashi-Pena Syndrome (ASXL2) and Bainbridge-Ropers Syndrome
      (ASXL3).
Study participants will be asked to complete a series of brief surveys over time about their
      medical condition. The researchers will also attain primary medical records.The registry is
      based at UCLA as the IRB of record with collaborating sites at Boston Children's Hospital,
      Cincinnati Children's Hospital, and Duke University in a partnership with the Bohring-Opitz
      Syndrome (BOS) Foundation and ASXL-Rare Research Endowment (ARRE). The BOS Foundation and
      ARRE are non-profit organizations run by families of patients with ASXL-related disorders
      that are focused on supporting research. The data is co-managed by the researchers and the
      family groups. Aggregate data from the Registry will be shared with the participants as well
      as used for publication. The Registry is HIPPA compliant and follows all the IRB requirements
      regarding securing and managing patient data.
observational model: Cohort
time perspective: Prospective
measure: Natural history, treatment and management strategies of ASXL-related disorders
time frame: 20 years
description: Use participant surveys including the GRDR CDE standard questions to collect data on disease history and management. Attain primary medical records with goal of publications to enhance treatment, management and understanding of the natural history of ASXL gene disorders.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Wen-Hann Tan, BMBS
role: Principal Investigator
affiliation: Boston Children's Hospital
last name: Loren Pena, MD, PhD
role: Principal Investigator
affiliation: Children's Hospital Medical Center, Cincinnati
last name: Vandana Shashi, MD, PhD
role: Principal Investigator
affiliation: Duke University
last name: Bianca Russell, MD
role: Principal Investigator
affiliation: University of California, Los Angeles
last name: Bianca Russell, MD
phone: (310) 206-6581
email: ASXL-CHROMATIN-REGISTRY@mednet.ucla.edu
facility: 
status: Recruiting
contact: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of California, Los Angeles
investigator full name: Bianca E. Russell, MD
investigator title: Bianca Russell, MD
mesh term: Syndrome
sharing ipd: Undecided