<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/NCT04454216</url>
  </required_header>
  <id_info>
    <org_study_id>Pro00104116</org_study_id>
    <nct_id>NCT04454216</nct_id>
  </id_info>
  <brief_title>GSD VI and GSD IX Natural History</brief_title>
  <official_title>GSD VI and GSD IX Natural History</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Duke University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Kriya Therapeutics</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Duke University</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>
      Collection and review of clinical information related to Glycogen Storage Disease Type VI&#xD;
      (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This natural history study will serve as a repository of clinical, laboratory, and&#xD;
      biochemical information on individuals with GSD VI or GSD IX. This information will allow a&#xD;
      more definitive description of glycogen phosphorylase (GP) and phosphorylase kinase (PhK)&#xD;
      deficiency to be developed, which will permit development of treatment strategies for these&#xD;
      diseases.&#xD;
&#xD;
      Duke will be the only site where this study takes place. However, since these are rare&#xD;
      disorders, participants who receive care at other institutions will be included. The&#xD;
      investigators will collect retrospective data from patient charts on diagnosed individuals,&#xD;
      as far back as necessary to capture the clinical course of the disorder. Prospective data&#xD;
      collected from patient charts after enrollment will be captured as well. Participant's&#xD;
      medical records will be continually reviewed for the duration of the study.&#xD;
&#xD;
      Data will be collected from medical records and will only pertain to clinically relevant&#xD;
      information, including, but not limited to: demographic and diagnostic information, tissue&#xD;
      biopsy results, medical and family history, review of systems, imaging studies, results of&#xD;
      liver and/or muscle testing, and urine and blood laboratory results.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">September 18, 2020</start_date>
  <completion_date type="Anticipated">January 1, 2030</completion_date>
  <primary_completion_date type="Anticipated">January 1, 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>Other</time_perspective>
  </study_design_info>
  <target_duration>20 Years</target_duration>
  <primary_outcome>
    <measure>Progression of disease confirmed by medical record review</measure>
    <time_frame>through study completion, an average of 10 years</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Serum biotinidase activity</measure>
    <time_frame>through study completion, an average of 10 years</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Number of genotypes presented</measure>
    <time_frame>through study completion, an average of 10 years</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Number of phenotypes presented</measure>
    <time_frame>through study completion, an average of 10 years</time_frame>
  </primary_outcome>
  <enrollment type="Anticipated">400</enrollment>
  <condition>Glycogen Storage Disease VI</condition>
  <condition>GLYCOGEN STORAGE DISEASE IXa1</condition>
  <condition>GLYCOGEN STORAGE DISEASE IXa2</condition>
  <condition>Glycogen Storage Disease IXB</condition>
  <condition>Glycogen Storage Disease IXC</condition>
  <condition>GSD 9 (All Subtypes)</condition>
  <condition>GSD 6</condition>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>No intervention</intervention_name>
    <description>This is an observational study that consists of data abstraction from patient medical records.</description>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        All patients with GSD VI or GSD IX, regardless of gender or ethnicity, are eligible for&#xD;
        enrollment.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Diagnosis of GSD VI or GSD IX via:&#xD;
&#xD;
               -  Two variants in the PYGL, PHKA1, PHKA2, PHKG1, PHKG2, or PHKB gene (or one&#xD;
                  variant with evidence of disease). Note: for males, one variant in the PHKA1 or&#xD;
                  PHKA2 gene is sufficient for inclusion.&#xD;
&#xD;
               -  Deficient GP activity or PhK activity per enzymology&#xD;
&#xD;
               -  Histology as confirmed by clinician&#xD;
&#xD;
          -  Pregnant women with a diagnosis of GSD VI or GSD IX will be included&#xD;
&#xD;
          -  Able to provide informed consent for self (adults) or affected individual (minor or&#xD;
             adults with a legally authorized representative)&#xD;
&#xD;
          -  Able to provide consent for release of medical records&#xD;
&#xD;
        Exclusion criteria:&#xD;
&#xD;
          -  Unable to provide informed consent for participation for one's self or by legally&#xD;
             authorized representative/legal guardian/parent&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>0 Years</minimum_age>
    <maximum_age>90 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Priya Kishnani, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Duke University</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Rebecca L Koch, PhD, RDN</last_name>
    <phone>919-681-8823</phone>
    <email>rebecca.koch@duke.edu</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Leticia Flores</last_name>
    <phone>919-660-7269</phone>
    <email>leticia.flores@duke.edu</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Duke University</name>
      <address>
        <city>Durham</city>
        <state>North Carolina</state>
        <zip>27710</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Rebecca L Koch, PhD, RDN</last_name>
      <phone>919-681-8823</phone>
      <email>rebecca.koch@duke.edu</email>
    </contact>
    <contact_backup>
      <last_name>Leticia Flores, BS</last_name>
      <phone>919-660-7269</phone>
      <email>leticia.flores@duke.edu</email>
    </contact_backup>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>May 2023</verification_date>
  <study_first_submitted>June 29, 2020</study_first_submitted>
  <study_first_submitted_qc>June 29, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 1, 2020</study_first_posted>
  <last_update_submitted>May 2, 2023</last_update_submitted>
  <last_update_submitted_qc>May 2, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">May 6, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Glycogen Storage Disease</mesh_term>
    <mesh_term>Glycogen Storage Disease Type VI</mesh_term>
    <mesh_term>Metabolic Diseases</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/NCT04454216
org study id: Pro00104116
nct id: NCT04454216
lead sponsor: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
Collection and review of clinical information related to Glycogen Storage Disease Type VI
      (GSD VI) OR Glycogen Storage Disease Type IX (GSD IX) generated during clinic visits.
This natural history study will serve as a repository of clinical, laboratory, and
      biochemical information on individuals with GSD VI or GSD IX. This information will allow a
      more definitive description of glycogen phosphorylase (GP) and phosphorylase kinase (PhK)
      deficiency to be developed, which will permit development of treatment strategies for these
      diseases.

      Duke will be the only site where this study takes place. However, since these are rare
      disorders, participants who receive care at other institutions will be included. The
      investigators will collect retrospective data from patient charts on diagnosed individuals,
      as far back as necessary to capture the clinical course of the disorder. Prospective data
      collected from patient charts after enrollment will be captured as well. Participant's
      medical records will be continually reviewed for the duration of the study.

      Data will be collected from medical records and will only pertain to clinically relevant
      information, including, but not limited to: demographic and diagnostic information, tissue
      biopsy results, medical and family history, review of systems, imaging studies, results of
      liver and/or muscle testing, and urine and blood laboratory results.
observational model: Cohort
time perspective: Other
measure: Progression of disease confirmed by medical record review
time frame: through study completion, an average of 10 years
measure: Serum biotinidase activity
time frame: through study completion, an average of 10 years
measure: Number of genotypes presented
time frame: through study completion, an average of 10 years
measure: Number of phenotypes presented
time frame: through study completion, an average of 10 years
intervention type: Other
intervention name: No intervention
description: This is an observational study that consists of data abstraction from patient medical records.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 0 Years
maximum age: 90 Years
healthy volunteers: No
last name: Priya Kishnani, MD
role: Principal Investigator
affiliation: Duke University
last name: Rebecca L Koch, PhD, RDN
phone: 919-681-8823
email: rebecca.koch@duke.edu
last name: Leticia Flores
phone: 919-660-7269
email: leticia.flores@duke.edu
facility: 
status: Recruiting
contact: 
contact backup: 
country: United States
responsible party type: Sponsor
mesh term: Glycogen Storage Disease
mesh term: Glycogen Storage Disease Type VI
mesh term: Metabolic Diseases
sharing ipd: No