<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/NCT01716741</url>
  </required_header>
  <id_info>
    <org_study_id>2012P000469</org_study_id>
    <nct_id>NCT01716741</nct_id>
  </id_info>
  <brief_title>Identification of Undiagnosed Gaucher Disease</brief_title>
  <official_title>Identification of Undiagnosed Gaucher Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Brigham and Women's Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Genzyme, a Sanofi Company</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Brigham and Women's Hospital</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient&#xD;
      encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups&#xD;
      of patient who are of high clinical suspicion for undiagnosed Gaucher disease. A group of&#xD;
      potential participants will be identified through the PDR. Detailed records will be requested&#xD;
      to further narrow to ideal participants based upon previously existing diagnoses and&#xD;
      symptoms. Participants will be invited to partake in the study via a letter from their&#xD;
      Partners care provider with supporting study details. Study participants will be evaluated in&#xD;
      a one-time visit. A complete family and medical history will be collected. A physical exam&#xD;
      will be performed, and up to 20cc of blood will be drawn. All participants will be notified&#xD;
      of their disease status via letter and phone call from the study staff. If the study&#xD;
      participant is diagnosed with GD through this evaluation, proper follow-up recommendations&#xD;
      and referrals will be provided. Our intent is to determine if existing patient data can&#xD;
      successfully be utilized to aid in the identification of patients with rare genetic disease.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Enrolling by invitation</last_known_status>
  <start_date>August 2012</start_date>
  <primary_completion_date type="Anticipated">August 2014</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Diagnostic</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>number of patients with previously undiagnosed GD identified</measure>
    <time_frame>up to 2 years</time_frame>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">100</enrollment>
  <condition>Gaucher Disease</condition>
  <arm_group>
    <arm_group_label>Enzyme analysis</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Enzyme analysis</intervention_name>
    <arm_group_label>Enzyme analysis</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Must have records available in the Partners HealthCare Patient Data Registry&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Must not have a diagnosis of Gaucher disease&#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>Michael F Murray, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Brigham and Women's Hospital</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Brigham and Women's Hosptial</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02115</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>August 2012</verification_date>
  <study_first_submitted>October 26, 2012</study_first_submitted>
  <study_first_submitted_qc>October 26, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 30, 2012</study_first_posted>
  <last_update_submitted>October 26, 2012</last_update_submitted>
  <last_update_submitted_qc>October 26, 2012</last_update_submitted_qc>
  <last_update_posted type="Estimate">October 30, 2012</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Brigham and Women's Hospital</investigator_affiliation>
    <investigator_full_name>Michael Murray</investigator_full_name>
    <investigator_title>Clinical Chief, Division of Genetics</investigator_title>
  </responsible_party>
  <keyword>Gaucher disease</keyword>
  <keyword>lysosomal storage disorder</keyword>
  <keyword>metabolic disease</keyword>
  <keyword>medical records review</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Gaucher Disease</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/NCT01716741
org study id: 2012P000469
nct id: NCT01716741
lead sponsor: 
collaborator: 
has dmc: No
Partners HealthCare maintains a Patient Data Registry (PDR) with information from all patient
      encounters at Partners HealthCare facilities. We intend to utilize the PDR to identify groups
      of patient who are of high clinical suspicion for undiagnosed Gaucher disease. A group of
      potential participants will be identified through the PDR. Detailed records will be requested
      to further narrow to ideal participants based upon previously existing diagnoses and
      symptoms. Participants will be invited to partake in the study via a letter from their
      Partners care provider with supporting study details. Study participants will be evaluated in
      a one-time visit. A complete family and medical history will be collected. A physical exam
      will be performed, and up to 20cc of blood will be drawn. All participants will be notified
      of their disease status via letter and phone call from the study staff. If the study
      participant is diagnosed with GD through this evaluation, proper follow-up recommendations
      and referrals will be provided. Our intent is to determine if existing patient data can
      successfully be utilized to aid in the identification of patients with rare genetic disease.
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Diagnostic
masking: None (Open Label)
measure: number of patients with previously undiagnosed GD identified
time frame: up to 2 years
arm group label: Enzyme analysis
arm group type: Other
description: Patients invited for evaluation will undergo glucocerebrosidase enzyme analysis
intervention type: Other
intervention name: Enzyme analysis
arm group label: Enzyme analysis
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Michael F Murray, MD
role: Principal Investigator
affiliation: Brigham and Women's Hospital
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: Brigham and Women's Hospital
investigator full name: Michael Murray
investigator title: Clinical Chief, Division of Genetics
mesh term: Gaucher Disease