<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/NCT02968953</url>
  </required_header>
  <id_info>
    <org_study_id>PRO16060524</org_study_id>
    <nct_id>NCT02968953</nct_id>
  </id_info>
  <brief_title>Treatment With UX007 for a Single Patient With GLUT1 Deficiency Syndrome</brief_title>
  <official_title>Treatment With UX007 (Triheptanoin) for a Single Patient (ERS) With Glucose Transporter 1 (GLUT1) Deficiency Syndrome</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Jerry Vockley, MD, PhD</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Ultragenyx Pharmaceutical Inc</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>University of Pittsburgh</source>
  <brief_summary>
    <textblock>
      This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a&#xD;
      single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a&#xD;
      single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome. Patient has already&#xD;
      tried the other acceptable treatments for GLUT1 with either side effects that caused&#xD;
      treatment to be discontinued (Ketogenic Diet) or a current treatment that is not showing any&#xD;
      efficacy and is difficult to sustain for a long duration given this patient's age (modified&#xD;
      Atkins diet). Due to the patient's ongoing neuroregression and lack of other viable&#xD;
      treatments, the use of UX007 (triheptanoin) is warranted. There is no comparable or&#xD;
      satisfactory alternative therapy to treat this patient's severely debilitating condition and&#xD;
      the potential benefits to the patient justify the potential risks of the treatment. The&#xD;
      potential risks from UX007 (triheptanoin) are not unreasonable given the context of this&#xD;
      patient's condition.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>No longer available</overall_status>
  <study_type>Expanded Access</study_type>
  <expanded_access_info>
    <expanded_access_type_individual>Yes</expanded_access_type_individual>
  </expanded_access_info>
  <condition>Glucose Transporter 1 Deficiency Syndrome</condition>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Triheptanoin</intervention_name>
    <description>A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007).</description>
    <other_name>UX007</other_name>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment&#xD;
             of a single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Not applicable as study only includes one patient.&#xD;
      </textblock>
    </criteria>
    <gender>Female</gender>
    <minimum_age>3 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Gerard Vockley, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of Pittsburgh</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Children's Hospital of Pittsburgh of UPMC</name>
      <address>
        <city>Pittsburgh</city>
        <state>Pennsylvania</state>
        <zip>15224</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <reference>
    <citation>Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.</citation>
    <PMID>25110966</PMID>
  </reference>
  <reference>
    <citation>Blumenschine M, Montes J, Rao AK, Engelstad K, De Vivo DC. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome. J Child Neurol. 2016 Nov;31(13):1483-1488. doi: 10.1177/0883073816661662. Epub 2016 Aug 10.</citation>
    <PMID>27511993</PMID>
  </reference>
  <reference>
    <citation>Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Heron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.</citation>
    <PMID>26536893</PMID>
  </reference>
  <verification_date>February 2019</verification_date>
  <study_first_submitted>November 16, 2016</study_first_submitted>
  <study_first_submitted_qc>November 16, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">November 21, 2016</study_first_posted>
  <last_update_submitted>February 7, 2019</last_update_submitted>
  <last_update_submitted_qc>February 7, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">February 8, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor-Investigator</responsible_party_type>
    <investigator_affiliation>University of Pittsburgh</investigator_affiliation>
    <investigator_full_name>Jerry Vockley, MD, PhD</investigator_full_name>
    <investigator_title>Professor</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Syndrome</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/NCT02968953
org study id: PRO16060524
nct id: NCT02968953
lead sponsor: 
collaborator: 
This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a
      single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome.
This treatment plan is intended for the use of UX007 (triheptanoin) in the treatment of a
      single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome. Patient has already
      tried the other acceptable treatments for GLUT1 with either side effects that caused
      treatment to be discontinued (Ketogenic Diet) or a current treatment that is not showing any
      efficacy and is difficult to sustain for a long duration given this patient's age (modified
      Atkins diet). Due to the patient's ongoing neuroregression and lack of other viable
      treatments, the use of UX007 (triheptanoin) is warranted. There is no comparable or
      satisfactory alternative therapy to treat this patient's severely debilitating condition and
      the potential benefits to the patient justify the potential risks of the treatment. The
      potential risks from UX007 (triheptanoin) are not unreasonable given the context of this
      patient's condition.
expanded access type individual: Yes
intervention type: Drug
intervention name: Triheptanoin
description: A single patient with Glucose Transporter 1 (GLUT1) Deficiency Syndrome will receive tripheptanoin (UX007).
other name: UX007
criteria: 
gender: Female
minimum age: 3 Years
maximum age: N/A
healthy volunteers: No
last name: Gerard Vockley, MD, PhD
role: Principal Investigator
affiliation: University of Pittsburgh
facility: 
country: United States
citation: Pascual JM, Liu P, Mao D, Kelly DI, Hernandez A, Sheng M, Good LB, Ma Q, Marin-Valencia I, Zhang X, Park JY, Hynan LS, Stavinoha P, Roe CR, Lu H. Triheptanoin for glucose transporter type I deficiency (G1D): modulation of human ictogenesis, cerebral metabolic rate, and cognitive indices by a food supplement. JAMA Neurol. 2014 Oct;71(10):1255-65. doi: 10.1001/jamaneurol.2014.1584.
PMID: 25110966
citation: Blumenschine M, Montes J, Rao AK, Engelstad K, De Vivo DC. Analysis of Gait Disturbance in Glut 1 Deficiency Syndrome. J Child Neurol. 2016 Nov;31(13):1483-1488. doi: 10.1177/0883073816661662. Epub 2016 Aug 10.
PMID: 27511993
citation: Mochel F, Hainque E, Gras D, Adanyeguh IM, Caillet S, Heron B, Roubertie A, Kaphan E, Valabregue R, Rinaldi D, Vuillaumier S, Schiffmann R, Ottolenghi C, Hogrel JY, Servais L, Roze E. Triheptanoin dramatically reduces paroxysmal motor disorder in patients with GLUT1 deficiency. J Neurol Neurosurg Psychiatry. 2016 May;87(5):550-3. doi: 10.1136/jnnp-2015-311475. Epub 2015 Nov 3.
PMID: 26536893
responsible party type: Sponsor-Investigator
investigator affiliation: University of Pittsburgh
investigator full name: Jerry Vockley, MD, PhD
investigator title: Professor
mesh term: Syndrome