<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/NCT04485221</url>
  </required_header>
  <id_info>
    <org_study_id>IRB202001737</org_study_id>
    <nct_id>NCT04485221</nct_id>
  </id_info>
  <brief_title>TECPR2 Observational Study</brief_title>
  <official_title>A Natural History Study in Children With a TECPR2 Mutation</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Florida</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Florida</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>
      The purpose of this study is to learn more about the disease progression in patients with a&#xD;
      TECPR2 mutation.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the&#xD;
      cellular process of autophagy resulting in neuronal cell death. This disruption leads to a&#xD;
      form of spastic paraplegia with the additional disruption to involuntary body processes, such&#xD;
      as respiration and thermoregulation. This study will provide valuable information about the&#xD;
      natural progression of children with a TECPR2 mutation.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">January 20, 2021</start_date>
  <completion_date type="Actual">August 17, 2023</completion_date>
  <primary_completion_date type="Actual">August 17, 2023</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>Disease progression</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>This will be monitored through medical history, physical exams, and a neurological exam.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Functional assessment: Gross Motor Function Measure</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>This evaluative measure of motor function is designed for quantifying change in the gross motor abilities of children.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Functional assessment: Gross Motor Function Classification System</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>This measures the functional level of the patient based on their age.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Functional assessment: Timed Tests</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>Timed tests for ambulant children will include time to run 10 meters, time to climb four stairs, and time to rise from the floor from supine.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Functional assessment: Muscular Strength Testing</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>Muscle strength will be assessed for grip, pinch, quadriceps, hamstrings, biceps, and triceps.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Functional assessment: Ankle Dorsiflexion Range of Motion</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>This measurement is used to evaluate the degree of ankle contracture in a participant.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Patient Reported Outcomes: Pediatric Quality of Life Inventory</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>A questionnaire used for measuring health-related quality of life in healthy children and adolescents and those with acute and chronic illnesses.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test</measure>
    <time_frame>Baseline up to 24 months</time_frame>
    <description>This questionnaire measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks.</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">5</enrollment>
  <condition>TECPR2</condition>
  <arm_group>
    <arm_group_label>Children with a TECPR2 mutation</arm_group_label>
    <description>Children with a TECPR2 mutation, age 18 months to 12 years old.&#xD;
Assessments will include collection of genetic mutation reports, functional assessments, and questionnaires. There will be a singular blood draw and skin biopsy.</description>
  </arm_group>
  <biospec_retention>None Retained</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood and&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Children with TECPR2-Related disorder, confirmed by genetic mutation analysis and&#xD;
        demonstrates clinical findings such as autophagy, developmental delay, hypotonia, or other&#xD;
        positive findings.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Written informed consent (and assent where appropriate) before any study procedures&#xD;
             take place;&#xD;
&#xD;
          -  Male or female;&#xD;
&#xD;
          -  18 months to 12 years old, at enrollment; and&#xD;
&#xD;
          -  Have a diagnosis of TECPR2-Related disorder, as defined by biochemical criteria AND/OR&#xD;
             genetic mutation analysis, AND demonstrate clinical findings such as autophagy,&#xD;
             developmental delay, hypotonia, or other positive findings.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Subject is unable to comply with study requirements; or&#xD;
&#xD;
          -  Have any other concurrent condition that, in the opinion of the investigator, would&#xD;
             make the subject unsuitable for the study.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Months</minimum_age>
    <maximum_age>12 Years</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Jenna Lammers</name>
      <address>
        <city>Gainesville</city>
        <state>Florida</state>
        <zip>32610</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://ghr.nlm.nih.gov/gene/TECPR2#normalfunction</url>
    <description>Genetic home reference for TECPR2</description>
  </link>
  <reference>
    <citation>Oz-Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25.</citation>
    <PMID>23439247</PMID>
  </reference>
  <reference>
    <citation>Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.</citation>
    <PMID>23176824</PMID>
  </reference>
  <verification_date>September 2023</verification_date>
  <study_first_submitted>June 18, 2020</study_first_submitted>
  <study_first_submitted_qc>July 21, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">July 24, 2020</study_first_posted>
  <last_update_submitted>September 8, 2023</last_update_submitted>
  <last_update_submitted_qc>September 8, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">September 11, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <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/NCT04485221
org study id: IRB202001737
nct id: NCT04485221
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
The purpose of this study is to learn more about the disease progression in patients with a
      TECPR2 mutation.
A mutation in the tectonin beta-propeller repeat containing 2 (TECPR2) gene can disrupt the
      cellular process of autophagy resulting in neuronal cell death. This disruption leads to a
      form of spastic paraplegia with the additional disruption to involuntary body processes, such
      as respiration and thermoregulation. This study will provide valuable information about the
      natural progression of children with a TECPR2 mutation.
observational model: Cohort
time perspective: Prospective
measure: Disease progression
time frame: Baseline up to 24 months
description: This will be monitored through medical history, physical exams, and a neurological exam.
measure: Functional assessment: Gross Motor Function Measure
time frame: Baseline up to 24 months
description: This evaluative measure of motor function is designed for quantifying change in the gross motor abilities of children.
measure: Functional assessment: Gross Motor Function Classification System
time frame: Baseline up to 24 months
description: This measures the functional level of the patient based on their age.
measure: Functional assessment: Timed Tests
time frame: Baseline up to 24 months
description: Timed tests for ambulant children will include time to run 10 meters, time to climb four stairs, and time to rise from the floor from supine.
measure: Functional assessment: Muscular Strength Testing
time frame: Baseline up to 24 months
description: Muscle strength will be assessed for grip, pinch, quadriceps, hamstrings, biceps, and triceps.
measure: Functional assessment: Ankle Dorsiflexion Range of Motion
time frame: Baseline up to 24 months
description: This measurement is used to evaluate the degree of ankle contracture in a participant.
measure: Patient Reported Outcomes: Pediatric Quality of Life Inventory
time frame: Baseline up to 24 months
description: A questionnaire used for measuring health-related quality of life in healthy children and adolescents and those with acute and chronic illnesses.
measure: Patient Reported Outcomes: Pediatric Evaluation of Disability Inventory Computer Adaptive Test
time frame: Baseline up to 24 months
description: This questionnaire measures the extent to which the caregiver or child takes responsibility for managing complex, multi-step life tasks.
arm group label: Children with a TECPR2 mutation
description: Children with a TECPR2 mutation, age 18 months to 12 years old.
Assessments will include collection of genetic mutation reports, functional assessments, and questionnaires. There will be a singular blood draw and skin biopsy.
Blood and
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Months
maximum age: 12 Years
healthy volunteers: No
facility: 
country: United States
url: https://ghr.nlm.nih.gov/gene/TECPR2#normalfunction
description: Genetic home reference for TECPR2
citation: Oz-Levi D, Gelman A, Elazar Z, Lancet D. TECPR2: a new autophagy link for neurodegeneration. Autophagy. 2013 May;9(5):801-2. doi: 10.4161/auto.23961. Epub 2013 Feb 25.
PMID: 23439247
citation: Oz-Levi D, Ben-Zeev B, Ruzzo EK, Hitomi Y, Gelman A, Pelak K, Anikster Y, Reznik-Wolf H, Bar-Joseph I, Olender T, Alkelai A, Weiss M, Ben-Asher E, Ge D, Shianna KV, Elazar Z, Goldstein DB, Pras E, Lancet D. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. doi: 10.1016/j.ajhg.2012.09.015. Epub 2012 Nov 21.
PMID: 23176824
responsible party type: Sponsor
sharing ipd: No