<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/NCT01716728</url>
  </required_header>
  <id_info>
    <org_study_id>2012P000418</org_study_id>
    <nct_id>NCT01716728</nct_id>
  </id_info>
  <brief_title>Identification of Undiagnosed Lysosomal Acid Lipase Deficiency</brief_title>
  <official_title>Identification of Undiagnosed Lysosomal Acid Lipase Deficiency</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Massachusetts General Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Alexion</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Massachusetts General 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 lysosomal acid lipase&#xD;
      deficiency. A group of potential participants will be identified through the PDR. Detailed&#xD;
      records will be requested to further narrow to ideal participants based upon previously&#xD;
      existing diagnoses and symptoms. Participants will be invited to partake in the study via a&#xD;
      letter from their Partners care provider with supporting study details. Study participants&#xD;
      will be evaluated in a one-time visit. A complete family and medical history will be&#xD;
      collected. A physical exam will be performed, and up to 20cc of blood will be drawn. All&#xD;
      participants will be notified of their disease status via letter and phone call from the&#xD;
      study staff. If the study participant is diagnosed with LALD through this evaluation, proper&#xD;
      follow-up recommendations and referrals will be provided. Our intent is to determine if&#xD;
      existing patient data can successfully be utilized to aid in the identification of patients&#xD;
      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 Time Frame: up to 2 years Description: Safety Issue?: No number of patients with previously undiagnosed LALD identified</measure>
    <time_frame>up to 2 years</time_frame>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Anticipated">60</enrollment>
  <condition>Lysosomal Acid Lipase Deficiency</condition>
  <condition>Cholesterol Ester Storage Disease</condition>
  <arm_group>
    <arm_group_label>Enzyme analysis</arm_group_label>
    <arm_group_type>No Intervention</arm_group_type>
    <description>Patients invited for evaluation will undergo lysosomal acid lipase 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;
          -  Individuals must have records available in the Partners HealthCare Patient Data&#xD;
             Registry&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Individuals must not have a diagnosis of Lysosomal Acid Lipase Deficiency&#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>Katherine B Sims, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Massachusetts General Hospital</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Massachusetts General Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02114</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>August 2013</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>August 10, 2013</last_update_submitted>
  <last_update_submitted_qc>August 10, 2013</last_update_submitted_qc>
  <last_update_posted type="Estimate">August 13, 2013</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Massachusetts General Hospital</investigator_affiliation>
    <investigator_full_name>Katherine Sims, MD</investigator_full_name>
    <investigator_title>Neurologist</investigator_title>
  </responsible_party>
  <keyword>Lysosomal Acid Lipase Deficiency</keyword>
  <keyword>Cholesterol Ester Storage Disease</keyword>
  <keyword>Wolman Disease</keyword>
  <keyword>Lysosomal Storage Disorder</keyword>
  <keyword>Metabolic Disease</keyword>
  <keyword>Recessive Inheritance</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Wolman Disease</mesh_term>
    <mesh_term>Cholesterol Ester Storage 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/NCT01716728
org study id: 2012P000418
nct id: NCT01716728
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 lysosomal acid lipase
      deficiency. 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 LALD 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 Description: Safety Issue?: No number of patients with previously undiagnosed LALD identified
time frame: up to 2 years
arm group label: Enzyme analysis
arm group type: No Intervention
description: Patients invited for evaluation will undergo lysosomal acid lipase enzyme analysis
intervention type: Other
intervention name: enzyme analysis
arm group label: Enzyme analysis
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Katherine B Sims, MD
role: Principal Investigator
affiliation: Massachusetts General Hospital
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: Massachusetts General Hospital
investigator full name: Katherine Sims, MD
investigator title: Neurologist
mesh term: Wolman Disease
mesh term: Cholesterol Ester Storage Disease