<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/NCT01694953</url>
  </required_header>
  <id_info>
    <org_study_id>AAAI5453</org_study_id>
    <secondary_id>1U54NS078059</secondary_id>
    <nct_id>NCT01694953</nct_id>
  </id_info>
  <brief_title>The Natural History Study of Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)</brief_title>
  <acronym>NAHIM</acronym>
  <official_title>The Rare Disease Clinical Research Network Natural History Study of MNGIE</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Columbia University</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <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>
  </oversight_info>
  <brief_summary>
    <textblock>
      This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal&#xD;
      Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The&#xD;
      investigators hope to learn more about the disease of MNGIE as well as develop useful&#xD;
      measures of disease status for use in future clinical trials.&#xD;
&#xD;
      Additional clinical centers will be listed as they become available.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The investigators will examine a total of 20 patients at six month intervals for up to five&#xD;
      years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy,&#xD;
      neuropsychological capability, quality of life, nutrition, motor function and biochemical&#xD;
      parameters.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">February 2013</start_date>
  <completion_date type="Anticipated">August 2024</completion_date>
  <primary_completion_date type="Anticipated">August 2024</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>Timed Water Swallow</measure>
    <time_frame>5 years</time_frame>
    <description>The timed water swallow test evaluates the time it takes to swallow a small cup of water</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Degree of Neuropathy</measure>
    <time_frame>5 years</time_frame>
    <description>A general neurological exam will be performed to assess the degree of neuropathy.</description>
  </secondary_outcome>
  <other_outcome>
    <measure>Score on Mini Mental State Exam</measure>
    <time_frame>5 years</time_frame>
    <description>A short assessment of cognitive function will be performed.</description>
  </other_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">10</enrollment>
  <condition>Mitochondrial NeuroGastroIntestinal Encephalopathy (MNGIE)</condition>
  <arm_group>
    <arm_group_label>Patients with MNGIE</arm_group_label>
    <description>Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study.</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Male or female, At least 5 years of age, with Thymidine Phosphorylase defect&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Thymidine Phosphorylase (TP) defect:&#xD;
&#xD;
               1. homozygous or&#xD;
&#xD;
               2. compound heterozygous mutations in the TYMP gene, and/or&#xD;
&#xD;
               3. TP enzyme activity of &lt;20% of normal.&#xD;
&#xD;
          2. Increased plasma Thd &gt; 3 micromole/L&#xD;
&#xD;
          3. Increased plasma dUrd &gt; 7.5 micromole/L&#xD;
&#xD;
          4. Age requirement of at least 5 years of age.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Participation in an interventional (study medication or other experimental&#xD;
             intervention) study (within 1 month of participation in this study).&#xD;
&#xD;
          2. Unable to travel to site for research visits.&#xD;
&#xD;
          3. Unwillingness to sign informed consent form.&#xD;
&#xD;
          4. Substance abuser&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>5 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Michio Hirano, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Columbia University</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Kris Engelstad, MS</last_name>
    <phone>212-305-6834</phone>
    <email>NAMDC@columbia.edu</email>
  </overall_contact>
  <location>
    <facility>
      <name>Columbia University</name>
      <address>
        <city>New York</city>
        <state>New York</state>
        <zip>10032</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Kris Engelstad, MS</last_name>
      <phone>212-305-6834</phone>
      <email>ke4@columbia.edu</email>
    </contact>
    <investigator>
      <last_name>Michio Hirano, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.rarediseasesnetwork.org/</url>
    <description>Rare Disease Clinical Research Network, NIH</description>
  </link>
  <reference>
    <citation>Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.</citation>
    <PMID>22215544</PMID>
  </reference>
  <verification_date>July 2022</verification_date>
  <study_first_submitted>September 25, 2012</study_first_submitted>
  <study_first_submitted_qc>September 25, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 27, 2012</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>
  <keyword>MNGIE</keyword>
  <keyword>Mitochondrial</keyword>
  <keyword>Mitochondrial Neurogastrointestinal encephalopathy</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Mitochondrial Encephalomyopathies</mesh_term>
    <mesh_term>Intestinal Pseudo-Obstruction</mesh_term>
    <mesh_term>Brain Diseases</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Yes</sharing_ipd>
    <ipd_description>When applicable manuscript(s) will be submitted.</ipd_description>
    <ipd_time_frame>When applicable manuscript(s) will be submitted.</ipd_time_frame>
    <ipd_access_criteria>Data included in manuscript(s).</ipd_access_criteria>
  </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/NCT01694953
org study id: AAAI5453
secondary id: 1U54NS078059
nct id: NCT01694953
lead sponsor: 
collaborator: 
has dmc: No
This is a multi-center natural history study of Mitochondrial NeurogastroIntestinal
      Encephalopathy (MNGIE). Patients will be followed over time to assess clinical symptoms. The
      investigators hope to learn more about the disease of MNGIE as well as develop useful
      measures of disease status for use in future clinical trials.

      Additional clinical centers will be listed as they become available.
The investigators will examine a total of 20 patients at six month intervals for up to five
      years. The investigators will evaluate gastrointestinal function, lean body mass, neuropathy,
      neuropsychological capability, quality of life, nutrition, motor function and biochemical
      parameters.
observational model: Cohort
time perspective: Prospective
measure: Timed Water Swallow
time frame: 5 years
description: The timed water swallow test evaluates the time it takes to swallow a small cup of water
measure: Degree of Neuropathy
time frame: 5 years
description: A general neurological exam will be performed to assess the degree of neuropathy.
measure: Score on Mini Mental State Exam
time frame: 5 years
description: A short assessment of cognitive function will be performed.
arm group label: Patients with MNGIE
description: Patients of all races of any gender who are at least 5 years of age with a defect in thymidine phosphorylase may participate in this natural history study.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 5 Years
maximum age: N/A
healthy volunteers: No
last name: Michio Hirano, MD
role: Principal Investigator
affiliation: Columbia University
last name: Kris Engelstad, MS
phone: 212-305-6834
email: NAMDC@columbia.edu
facility: 
status: Recruiting
contact: 
investigator: 
country: United States
url: https://www.rarediseasesnetwork.org/
description: Rare Disease Clinical Research Network, NIH
citation: Marti R, Lopez LC, Hirano M. Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol. 2012;837:121-33. doi: 10.1007/978-1-61779-504-6_8.
PMID: 22215544
responsible party type: Principal Investigator
investigator affiliation: Columbia University
investigator full name: Michio Hirano, MD
investigator title: Professor of Neurology
mesh term: Mitochondrial Encephalomyopathies
mesh term: Intestinal Pseudo-Obstruction
mesh term: Brain Diseases
sharing ipd: Yes
ipd description: When applicable manuscript(s) will be submitted.
ipd time frame: When applicable manuscript(s) will be submitted.
ipd access criteria: Data included in manuscript(s).