<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/NCT03034512</url>
  </required_header>
  <id_info>
    <org_study_id>AAAM9859</org_study_id>
    <secondary_id>2U54NS078059-04</secondary_id>
    <secondary_id>5U54NS078059-02</secondary_id>
    <nct_id>NCT03034512</nct_id>
  </id_info>
  <brief_title>Alpers Huttenlocher Natural History Study</brief_title>
  <acronym>Alpers</acronym>
  <official_title>Natural History Study of Alpers Huttenlocher Syndrome</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Columbia University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Seattle Children's Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>National Institute of Neurological Disorders and Stroke (NINDS)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
  </sponsors>
  <source>Columbia 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>
      This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed&#xD;
      over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder&#xD;
      in the medical community.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The study team will conduct outpatient visits to the medical center on a 6 month basis, or as&#xD;
      patients are able. The patients or their caregivers will complete medical and symptom&#xD;
      questionnaires.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Terminated</overall_status>
  <why_stopped>
    Research focus has changed.&#xD;
  </why_stopped>
  <start_date type="Actual">January 2014</start_date>
  <completion_date type="Actual">July 27, 2022</completion_date>
  <primary_completion_date type="Actual">July 27, 2022</primary_completion_date>
  <study_type>Observational</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>
  <primary_outcome>
    <measure>onset age</measure>
    <time_frame>2 years</time_frame>
    <description>age at onset of first symptom versus POLG mutation type</description>
  </primary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">2</enrollment>
  <condition>Alpers Huttenlocher Syndrome</condition>
  <arm_group>
    <arm_group_label>Patients with Alpers-Huttenlocher</arm_group_label>
    <description>Patients confirmed to have Alpers Huttenlocher Syndrome</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Siblings</arm_group_label>
    <description>Siblings of patients with Alpers Huttenlocher Syndrome</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        patients with Alpers Huttenlocher Syndrome (AHS) and their siblings&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  All individuals of any age with confirmed Alpers Huttenlocher Syndrome (AHS) or&#xD;
             siblings of confirmed AHS patients are eligible to participate. AHS requires the&#xD;
             presence of polymerase gamma 1 (POLG) pathological mutations, either homozygous or&#xD;
             compound heterozygote mutations, and the presence of epilepsy and either,&#xD;
             developmental regression or hepatopathy. If POLG mutations are not demonstrated, AHS&#xD;
             requires the presence of refractory seizures, developmental regression, and&#xD;
             hepatopathy as well as two or more other clinical and laboratory findings including&#xD;
             elevated cerebrospinal fluid (CSF) protein, neuroimaging showing lactate peaks,&#xD;
             reduced N-acetyl aspartate with hyperintensities on T2/FLAIR in the thalamus and&#xD;
             posterior head regions, optic atrophy/cortical blindness, quantitative mtDNA reduction&#xD;
             (&gt;30% ) in muscle and/or liver, non-specific electron transport chain (ETC) enzyme&#xD;
             deficiencies.&#xD;
&#xD;
          -  All patients must agree to participate in the North American Mitochondrial Disease&#xD;
             Consortium (NAMDC) Clinical Registry&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patient does not have confirmed AHS and is not the sibling of a patient with confirmed&#xD;
             AHS&#xD;
&#xD;
          -  Not willing to participate in the NAMDC clinical Registry&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Michio Hirano, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Columbia University</affiliation>
  </overall_official>
  <overall_official>
    <last_name>Russell Saneto, MD</last_name>
    <role>Study Chair</role>
    <affiliation>Seattle Children's Hospital</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Columbia University</name>
      <address>
        <city>New York</city>
        <state>New York</state>
        <zip>10032</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Seattle Childrens Hospital</name>
      <address>
        <city>Seattle</city>
        <state>Washington</state>
        <zip>98105</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.rarediseasesnetwork.org/cms/namdc/Get-Involved/Studies/7405</url>
    <description>North American Mitochondrial Disease Consortium (NAMDC) Study Site</description>
  </link>
  <verification_date>July 2022</verification_date>
  <study_first_submitted>January 25, 2017</study_first_submitted>
  <study_first_submitted_qc>January 25, 2017</study_first_submitted_qc>
  <study_first_posted type="Estimate">January 27, 2017</study_first_posted>
  <last_update_submitted>July 28, 2022</last_update_submitted>
  <last_update_submitted_qc>July 28, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">August 1, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Columbia University</investigator_affiliation>
    <investigator_full_name>Michio Hirano, MD</investigator_full_name>
    <investigator_title>Professor of Neurology</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Diffuse Cerebral Sclerosis of Schilder</mesh_term>
    <mesh_term>Syndrome</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project</ipd_description>
  </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/NCT03034512
org study id: AAAM9859
secondary id: 2U54NS078059-04
secondary id: 5U54NS078059-02
nct id: NCT03034512
lead sponsor: 
collaborator: 
collaborator: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
This is a natural history study of Alpers Huttenlocher Syndrome. Patients will be followed
      over time to assess clinical symptoms for the purpose of expanding knowledge of this disorder
      in the medical community.
The study team will conduct outpatient visits to the medical center on a 6 month basis, or as
      patients are able. The patients or their caregivers will complete medical and symptom
      questionnaires.
observational model: Cohort
time perspective: Prospective
measure: onset age
time frame: 2 years
description: age at onset of first symptom versus POLG mutation type
arm group label: Patients with Alpers-Huttenlocher
description: Patients confirmed to have Alpers Huttenlocher Syndrome
arm group label: Siblings
description: Siblings of patients with Alpers Huttenlocher Syndrome
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Michio Hirano, MD
role: Principal Investigator
affiliation: Columbia University
last name: Russell Saneto, MD
role: Study Chair
affiliation: Seattle Children's Hospital
facility: 
facility: 
country: United States
url: https://www.rarediseasesnetwork.org/cms/namdc/Get-Involved/Studies/7405
description: North American Mitochondrial Disease Consortium (NAMDC) Study Site
responsible party type: Principal Investigator
investigator affiliation: Columbia University
investigator full name: Michio Hirano, MD
investigator title: Professor of Neurology
mesh term: Diffuse Cerebral Sclerosis of Schilder
mesh term: Syndrome
sharing ipd: Yes
ipd description: This study is a sub project under the North American Mitochondrial Disease Consortium. The de-identified data can be shared if investigators have Institutional Review Board (IRB) approval for a project that might include data from this study and if the NAMDC administration approves of the project