<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/NCT03766386</url>
  </required_header>
  <id_info>
    <org_study_id>170727</org_study_id>
    <nct_id>NCT03766386</nct_id>
  </id_info>
  <brief_title>The Natural History of Danon Disease</brief_title>
  <official_title>The Natural History of Danon Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of California, San Diego</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Rocket Pharmaceuticals Inc.</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>University of California, San Diego</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>
      Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in&#xD;
      many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2&#xD;
      gene. There is still uncertainty regarding the natural history of DD because of its rarity.&#xD;
&#xD;
      This study aims to determine the natural history of DD through the collection and analysis of&#xD;
      retrospective and prospective data. To achieve this, the investigators will perform surveys&#xD;
      and obtain medical records from DD patients. The same cohort of patients will also be&#xD;
      assessed by a multidisciplinary team with expertise in DD (cardiologist, neurologist,&#xD;
      ophthalmologist, psychologist, geneticist) at the University of California, San Diego. All&#xD;
      patients with DD are eligible, including those who underwent a heart transplant.&#xD;
      Additionally, data and records from deceased patients will provide valuable retrospective&#xD;
      data for this study.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The study design will include:&#xD;
&#xD;
        1. Collection of information for all patients from:&#xD;
&#xD;
             -  Survey of patient or caregiver (if the patient has deceased)&#xD;
&#xD;
             -  Medical Charts&#xD;
&#xD;
        2. Collection of information from living patients assessed by the multidisciplinary team at&#xD;
           the University of California, San Diego including:&#xD;
&#xD;
             -  A complete medical history and physical examination&#xD;
&#xD;
             -  Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance&#xD;
                imaging with gadolinium contrast agent-gadolinium contrast is optional-;&#xD;
                Cardiopulmonary Test)&#xD;
&#xD;
             -  Pulmonary function testing (PFT)&#xD;
&#xD;
             -  Neuromuscular Assessment&#xD;
&#xD;
             -  Cognitive Tests&#xD;
&#xD;
             -  Vision exam including retinal evaluation&#xD;
&#xD;
             -  Laboratory Tests&#xD;
&#xD;
             -  Questionnaires on Quality of life&#xD;
&#xD;
             -  Needle Skeletal muscle biopsy (only for patients over 18 years old)&#xD;
&#xD;
             -  Abdominal Ultrasound for assessment of the liver structure&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">November 30, 2018</start_date>
  <completion_date type="Anticipated">November 2024</completion_date>
  <primary_completion_date type="Anticipated">November 2024</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>Other</time_perspective>
  </study_design_info>
  <target_duration>3 Years</target_duration>
  <primary_outcome>
    <measure>Cardiac structure over time</measure>
    <time_frame>6, 12, 18, 24, 30, 36 months</time_frame>
    <description>Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">200</enrollment>
  <condition>Danon Disease</condition>
  <arm_group>
    <arm_group_label>Danon Disease Patients</arm_group_label>
    <description>Patients with a confirmed diagnosis of Danon disease who are currently alive (including patients who may or may not have undergone heart transplantation).</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Deceased Danon Disease Patients</arm_group_label>
    <description>Patients with a confirmed diagnosis of Danon disease who are deceased (including patients who may or may not have undergone heart transplantation).</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Patients diagnosed with Danon Disease (LAMP2 mutation) of any sex and any age.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        • Living or deceased patients with a diagnosis of Danon disease(including patients who may&#xD;
        or may not have undergone heart transplantation) based on a genetic test positive for the&#xD;
        LAMP2 mutation&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        • Patients without a genetic test positive for a LAMP2 mutation&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>0 Years</minimum_age>
    <maximum_age>100 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_contact>
    <last_name>Eric Adler, MD</last_name>
    <phone>8582462996</phone>
    <email>eradler@ucsd.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>University of California, San Diego</name>
      <address>
        <city>San Diego</city>
        <state>California</state>
        <zip>92122-5671</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Eric Adler, MD</last_name>
      <email>eradler@ucsd.edu</email>
    </contact>
    <contact_backup>
      <last_name>Michela Brambatti, MD,MS</last_name>
      <phone_ext>Brambatti</phone_ext>
      <email>mbrambatti@ucsd.edu</email>
    </contact_backup>
    <investigator>
      <last_name>Michela Brambatti, MD,MS</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>May 2022</verification_date>
  <study_first_submitted>November 30, 2018</study_first_submitted>
  <study_first_submitted_qc>December 4, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 6, 2018</study_first_posted>
  <last_update_submitted>May 11, 2022</last_update_submitted>
  <last_update_submitted_qc>May 11, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">May 12, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of California, San Diego</investigator_affiliation>
    <investigator_full_name>Eric Adler, MD</investigator_full_name>
    <investigator_title>Professor of Medicine</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Glycogen Storage Disease Type IIb</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/NCT03766386
org study id: 170727
nct id: NCT03766386
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Danon disease (DD) is a rare, X-linked disorder associated with severe cardiomyopathy, and in
      many cases, skeletal myopathy, and cognitive impairment caused by mutations in the LAMP2
      gene. There is still uncertainty regarding the natural history of DD because of its rarity.

      This study aims to determine the natural history of DD through the collection and analysis of
      retrospective and prospective data. To achieve this, the investigators will perform surveys
      and obtain medical records from DD patients. The same cohort of patients will also be
      assessed by a multidisciplinary team with expertise in DD (cardiologist, neurologist,
      ophthalmologist, psychologist, geneticist) at the University of California, San Diego. All
      patients with DD are eligible, including those who underwent a heart transplant.
      Additionally, data and records from deceased patients will provide valuable retrospective
      data for this study.
The study design will include:

        1. Collection of information for all patients from:

             -  Survey of patient or caregiver (if the patient has deceased)

             -  Medical Charts

        2. Collection of information from living patients assessed by the multidisciplinary team at
           the University of California, San Diego including:

             -  A complete medical history and physical examination

             -  Cardiac Testing (Electrocardiography; Echocardiography; Cardiac magnetic resonance
                imaging with gadolinium contrast agent-gadolinium contrast is optional-;
                Cardiopulmonary Test)

             -  Pulmonary function testing (PFT)

             -  Neuromuscular Assessment

             -  Cognitive Tests

             -  Vision exam including retinal evaluation

             -  Laboratory Tests

             -  Questionnaires on Quality of life

             -  Needle Skeletal muscle biopsy (only for patients over 18 years old)

             -  Abdominal Ultrasound for assessment of the liver structure
observational model: Cohort
time perspective: Other
measure: Cardiac structure over time
time frame: 6, 12, 18, 24, 30, 36 months
description: Change of cardiac structure (wall thickness -mm) measured by cardiac ultrasound / cardiac magnetic resonance
arm group label: Danon Disease Patients
description: Patients with a confirmed diagnosis of Danon disease who are currently alive (including patients who may or may not have undergone heart transplantation).
arm group label: Deceased Danon Disease Patients
description: Patients with a confirmed diagnosis of Danon disease who are deceased (including patients who may or may not have undergone heart transplantation).
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 0 Years
maximum age: 100 Years
healthy volunteers: No
last name: Eric Adler, MD
phone: 8582462996
email: eradler@ucsd.edu
facility: 
status: Recruiting
contact: 
contact backup: 
investigator: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of California, San Diego
investigator full name: Eric Adler, MD
investigator title: Professor of Medicine
mesh term: Glycogen Storage Disease Type IIb
sharing ipd: No