<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/NCT03789721</url>
  </required_header>
  <id_info>
    <org_study_id>2019NTLS027</org_study_id>
    <secondary_id>MT2019-01</secondary_id>
    <nct_id>NCT03789721</nct_id>
  </id_info>
  <brief_title>Adrenoleukodystrophy National Registry Study</brief_title>
  <official_title>Adrenoleukodystrophy National Registry Study</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Masonic Cancer Center, University of Minnesota</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Masonic Cancer Center, University of Minnesota</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>
      The aim of this registry to understand the natural history and disease progression in ALD and&#xD;
      potentially develop bio-markers using the biospecimens collected using this registry.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This is a prospective, non-therapeutic protocol designed to create and maintain a registry of&#xD;
      participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD. This study&#xD;
      also involves maintaining a prospective biorepository to collect and store buccal swab,&#xD;
      blood, stool and urine samples as well. In this protocol, pediatric (including infants),&#xD;
      adolescents and adult patients with confirmed or presumed ALD (based on positive VLCFA&#xD;
      testing and/or confirmed mutation) will be offered potential study participation.&#xD;
      Additionally, presumed mutation for ALD (based on pedigree or confirmed mutation) will be&#xD;
      offered potential study participation. After appropriate consent (online or in-person),&#xD;
      subjects will be requested to provide a medical history (with authorization of release of&#xD;
      medical records), longitudinal biospecimens, and permission to perform laboratory analyses on&#xD;
      these samples. The overall goal is to understand the natural disease course in affected and&#xD;
      unaffected patients (identified patients and relatives with a diagnosis of ALD), as well as&#xD;
      women with ALD to assemble a resource of clinical, medical, and biological data from the&#xD;
      participants. This study also aims to understand the outcomes of this disease, as well as&#xD;
      possibly develop biomarkers to identify prognostic markers for disease progression, which may&#xD;
      help develop effective interventions. The biospecimen bank and registry will provide access&#xD;
      to samples and data for the ongoing studies as well as will provide an important resource for&#xD;
      the future research.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">May 1, 2019</start_date>
  <completion_date type="Anticipated">February 2030</completion_date>
  <primary_completion_date type="Anticipated">February 2030</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>99 Years</target_duration>
  <primary_outcome>
    <measure>Collect Clinical and Epidemiological Data</measure>
    <time_frame>10 Years</time_frame>
    <description>Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.</description>
  </primary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">1000</enrollment>
  <condition>ALD (Adrenoleukodystrophy)</condition>
  <condition>Adrenoleukodystrophy</condition>
  <condition>Cerebral Adrenoleukodystrophy</condition>
  <arm_group>
    <arm_group_label>Adrenoleukodystrophy</arm_group_label>
    <description>All patients living in the United States diagnosed with adrenoleukodystrophy, either by newborn screen, based on family history or otherwise, are eligible to participate in this study.</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Medical Record Abstraction</intervention_name>
    <description>Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.</description>
    <arm_group_label>Adrenoleukodystrophy</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Biospecimen Sample Collection</intervention_name>
    <description>Collect research samples, when feasible for those diagnosed with ALD.</description>
    <arm_group_label>Adrenoleukodystrophy</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria&#xD;
&#xD;
          -  Age 0 - 100&#xD;
&#xD;
          -  ALD patients or family member meeting any of the following criteria:&#xD;
&#xD;
               -  Any patient diagnosed with ALD (confirmed by positive VLCFA testing and/or&#xD;
                  genetic mutation).&#xD;
&#xD;
               -  Known or presumed mutation with ALD based on pedigree or confirmed mutation in&#xD;
                  ABCD1 gene&#xD;
&#xD;
          -  Participants living in the United States and territories&#xD;
&#xD;
        Exclusion Criteria&#xD;
&#xD;
          -  Patients diagnosed with ALD who lack the capacity to consent/assent AND do not have a&#xD;
             designated legally authorized representative or guardian.&#xD;
&#xD;
          -  Patients who have undergone BMT or other cellular therapy .&#xD;
&#xD;
          -  Patients not fluent in English who are unable to consent in-person at the BMT Journey&#xD;
             Clinic.&#xD;
&#xD;
          -  Patients who are illiterate&#xD;
&#xD;
          -  Patient determined by the PI or designee to be unlikely to complete required study&#xD;
             components (due to language barriers, compliance issues, etc.)&#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_contact>
    <last_name>Ashish Gupta, MD</last_name>
    <phone>612-626-2961</phone>
    <email>gupta461@umn.edu</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Paul Orchard, MD</last_name>
    <phone>612-626-2961</phone>
    <email>orcha001@umn.edu</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Masonic Cancer Center at University of Minnesota</name>
      <address>
        <city>Minneapolis</city>
        <state>Minnesota</state>
        <zip>55455</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Phil Lacher</last_name>
      <phone>612-626-2977</phone>
      <email>placher@umn.edu</email>
    </contact>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>May 2023</verification_date>
  <study_first_submitted>December 14, 2018</study_first_submitted>
  <study_first_submitted_qc>December 26, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 31, 2018</study_first_posted>
  <last_update_submitted>May 1, 2023</last_update_submitted>
  <last_update_submitted_qc>May 1, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">May 3, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Registry, VLCFA, ABCD1, X-chromosome</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Adrenoleukodystrophy</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/NCT03789721
org study id: 2019NTLS027
secondary id: MT2019-01
nct id: NCT03789721
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
The aim of this registry to understand the natural history and disease progression in ALD and
      potentially develop bio-markers using the biospecimens collected using this registry.
This is a prospective, non-therapeutic protocol designed to create and maintain a registry of
      participants with Adrenoleukodystrophy (ALD) and known/presumed mutation for ALD. This study
      also involves maintaining a prospective biorepository to collect and store buccal swab,
      blood, stool and urine samples as well. In this protocol, pediatric (including infants),
      adolescents and adult patients with confirmed or presumed ALD (based on positive VLCFA
      testing and/or confirmed mutation) will be offered potential study participation.
      Additionally, presumed mutation for ALD (based on pedigree or confirmed mutation) will be
      offered potential study participation. After appropriate consent (online or in-person),
      subjects will be requested to provide a medical history (with authorization of release of
      medical records), longitudinal biospecimens, and permission to perform laboratory analyses on
      these samples. The overall goal is to understand the natural disease course in affected and
      unaffected patients (identified patients and relatives with a diagnosis of ALD), as well as
      women with ALD to assemble a resource of clinical, medical, and biological data from the
      participants. This study also aims to understand the outcomes of this disease, as well as
      possibly develop biomarkers to identify prognostic markers for disease progression, which may
      help develop effective interventions. The biospecimen bank and registry will provide access
      to samples and data for the ongoing studies as well as will provide an important resource for
      the future research.
observational model: Cohort
time perspective: Prospective
measure: Collect Clinical and Epidemiological Data
time frame: 10 Years
description: Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.
arm group label: Adrenoleukodystrophy
description: All patients living in the United States diagnosed with adrenoleukodystrophy, either by newborn screen, based on family history or otherwise, are eligible to participate in this study.
intervention type: Other
intervention name: Medical Record Abstraction
description: Collect clinical and epidemiological data through medical record abstraction and self-reported questionnaire survey semi-annually.
arm group label: Adrenoleukodystrophy
intervention type: Other
intervention name: Biospecimen Sample Collection
description: Collect research samples, when feasible for those diagnosed with ALD.
arm group label: Adrenoleukodystrophy
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: No
last name: Ashish Gupta, MD
phone: 612-626-2961
email: gupta461@umn.edu
last name: Paul Orchard, MD
phone: 612-626-2961
email: orcha001@umn.edu
facility: 
status: Recruiting
contact: 
country: United States
responsible party type: Sponsor
mesh term: Adrenoleukodystrophy