<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/NCT02979145</url>
  </required_header>
  <id_info>
    <org_study_id>6611</org_study_id>
    <nct_id>NCT02979145</nct_id>
  </id_info>
  <brief_title>Charcot-Marie-Tooth Disease (CMT) Infant Scale (INC-6611)</brief_title>
  <official_title>Development of the Charcot-Marie-Tooth Disease Infant Scale (CMTInfS) for Infants With CMT</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Sydney Children's Hospitals Network</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>University of Iowa</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Children's Hospital of Philadelphia</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Pennsylvania</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Rochester</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>National Hospital of Neurology and Neurosurgery</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Dubowitz Neuromuscular Centre</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Miami</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Carlo Besta Neurological Institute</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Johns Hopkins University</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Vanderbilt University</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Washington</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Nemours Children's Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>National Institutes of Health (NIH)</agency>
      <agency_class>NIH</agency_class>
    </collaborator>
    <collaborator>
      <agency>Stanford University</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Cedars-Sinai Medical Center</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Harvard/Massachusetts General Hospital</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Michigan</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Minnesota</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Utah</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Connecticut</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Universiteit Antwerpen</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Sydney Children's Hospitals Network</source>
  <brief_summary>
    <textblock>
      The purpose of this study is to develop and validate a clinical outcome measure to evaluate&#xD;
      disability and disease progression of children 3 years of age and younger (infants and&#xD;
      toddlers) with various types of Charcot-Marie-Tooth disease (CMT).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current&#xD;
      research suggests that treatment to slow disease progression may be most effective if&#xD;
      introduced early in a patient's life before muscle weakness and sensation loss develop, as it&#xD;
      may be easier to slow disease progression than to reverse disability that is already in&#xD;
      place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and&#xD;
      for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific&#xD;
      clinical outcome measure currently exists to measure disease severity or progression in&#xD;
      children from birth to 3 years of age. It is the goal of this study to develop and validate&#xD;
      the CMT Infant Scale (CMTInfS) to meet this need.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date>October 2016</start_date>
  <primary_completion_date type="Anticipated">December 2017</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Only</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>CMT Infant Scale Part 1</measure>
    <time_frame>1 year</time_frame>
    <description>The CMT Infant Scale physical assessment</description>
  </primary_outcome>
  <primary_outcome>
    <measure>The CMT Infant Scale Part 2</measure>
    <time_frame>1 year</time_frame>
    <description>The CMT Infant Scale lower limb and gross motor items</description>
  </primary_outcome>
  <primary_outcome>
    <measure>The CMT Infant Scale Part 3</measure>
    <time_frame>1 year</time_frame>
    <description>The CMT Infant Scale upper limb and fine motor items</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study</measure>
    <time_frame>6 months - 1 year</time_frame>
    <description>The sections of the CMT Infant Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all infant patients every 6 months to one year.</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Anticipated">200</enrollment>
  <condition>Charcot-Marie-Tooth Disease</condition>
  <arm_group>
    <arm_group_label>Patients with CMT</arm_group_label>
    <description>Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Controls</arm_group_label>
    <description>Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria.</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>No intervention involved</intervention_name>
    <arm_group_label>Controls</arm_group_label>
    <arm_group_label>Patients with CMT</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Patients who are 4 years of age and under who are also enrolled in the 6601 study and have&#xD;
        performed all tasks to complete the CMTInfant Scale will be recruited for participation.&#xD;
        Participation entails allow the information collected in the 6601 study be used for&#xD;
        validation in the current study.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria (patients with CMT):&#xD;
&#xD;
          -  Patient is ≤4 years of age&#xD;
&#xD;
          -  Parent(s) or guardians have agreed for the child to take part in the study and have&#xD;
             signed an informed consent form.&#xD;
&#xD;
          -  Patient has known or probable inherited neuropathy&#xD;
&#xD;
          -  Patient participates in the INC Natural History Study (INC 6601)&#xD;
&#xD;
        Inclusion Criteria (controls):&#xD;
&#xD;
          -  Participant is ≤4 years of age&#xD;
&#xD;
          -  Parent(s) or guardians have agreed for the child to take part in the study and have&#xD;
             signed an informed consent form.&#xD;
&#xD;
          -  Participant does NOT have an inherited neuropathy as determined by the investigator&#xD;
&#xD;
          -  Participant is an unaffected friend or family member of a patient with CMT (patient&#xD;
             does not have to be included in the study)&#xD;
&#xD;
        Exclusion Criteria (patients with CMT):&#xD;
&#xD;
          -  Patient has a known condition of acquired neuropathy including toxic (e.g. medication&#xD;
             related), metabolic (e.g. diabetic), immune mediated or inflammatory (AIDP or CIDP)&#xD;
             neuropathies, a neuropathy related to leukodystrophy, or a congenital muscular&#xD;
             dystrophy.&#xD;
&#xD;
          -  Patient has a severe general medical condition, as determined by the site Principal&#xD;
             Investigator.&#xD;
&#xD;
          -  Patient has known normal nerve conductions of upper and lower limbs. This will be&#xD;
             considered as exclusion criteria because it documents that the child does not have a&#xD;
             large-fibre neuropathy. However, patients will not be required to have nerve&#xD;
             conduction studies (NCS) or electromyography (EMG).&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>4 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>University of Iowa Health Care</name>
      <address>
        <city>Iowa City</city>
        <state>Iowa</state>
        <zip>52242</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Shawna Feely, MS, CGC</last_name>
      <phone>319-353-8400</phone>
      <email>Shawna-Feely@uiowa.edu</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>Children's Hospital of Philadelphia</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19104-1771</zip>
        <country>United States</country>
      </address>
    </facility>
    <status>Not yet recruiting</status>
    <contact>
      <last_name>Timothy Estilow, OT</last_name>
      <email>ESTILOW@email.chop.edu</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>The Children's Hospital at Westmead</name>
      <address>
        <city>Sydney</city>
        <state>New South Wales</state>
        <zip>2145</zip>
        <country>Australia</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Melissa Mandarakas, MPhty</last_name>
      <phone>+61 2 98451904</phone>
      <email>melissa.mandarakas@sydney.edu.au</email>
    </contact>
  </location>
  <location>
    <facility>
      <name>C. Besta Neurological Institute</name>
      <address>
        <city>Milan</city>
        <zip>20133</zip>
        <country>Italy</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Isabella Moroni</last_name>
      <phone>+39-02 2394 3001</phone>
      <email>isabella.moroni@istituto-besta.it</email>
    </contact>
  </location>
  <location_countries>
    <country>Australia</country>
    <country>Italy</country>
    <country>United States</country>
  </location_countries>
  <link>
    <url>https://www.rarediseasesnetwork.org/cms/inc/6611</url>
    <description>6611: Charcot-Marie-Tooth disease Infant Scale Recruitment Website</description>
  </link>
  <verification_date>November 2016</verification_date>
  <study_first_submitted>November 29, 2016</study_first_submitted>
  <study_first_submitted_qc>November 29, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 1, 2016</study_first_posted>
  <last_update_submitted>November 29, 2016</last_update_submitted>
  <last_update_submitted_qc>November 29, 2016</last_update_submitted_qc>
  <last_update_posted type="Estimate">December 1, 2016</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Sydney Children's Hospitals Network</investigator_affiliation>
    <investigator_full_name>Joshua Burns</investigator_full_name>
    <investigator_title>Professor of Allied Health (Paediatrics)</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Tooth Diseases</mesh_term>
    <mesh_term>Charcot-Marie-Tooth Disease</mesh_term>
    <mesh_term>Nerve Compression Syndromes</mesh_term>
    <mesh_term>Hereditary Sensory and Motor Neuropathy</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/NCT02979145
org study id: 6611
nct id: NCT02979145
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The purpose of this study is to develop and validate a clinical outcome measure to evaluate
      disability and disease progression of children 3 years of age and younger (infants and
      toddlers) with various types of Charcot-Marie-Tooth disease (CMT).
Most forms of CMT begin in childhood and progress throughout a person's lifetime. Current
      research suggests that treatment to slow disease progression may be most effective if
      introduced early in a patient's life before muscle weakness and sensation loss develop, as it
      may be easier to slow disease progression than to reverse disability that is already in
      place. Clinical outcome measures have been developed for adults (CMT Neuropathy Score) and
      for children 3 years of age and older (CMT Pediatric Scale). However, no CMT-specific
      clinical outcome measure currently exists to measure disease severity or progression in
      children from birth to 3 years of age. It is the goal of this study to develop and validate
      the CMT Infant Scale (CMTInfS) to meet this need.
observational model: Case-Only
time perspective: Prospective
measure: CMT Infant Scale Part 1
time frame: 1 year
description: The CMT Infant Scale physical assessment
measure: The CMT Infant Scale Part 2
time frame: 1 year
description: The CMT Infant Scale lower limb and gross motor items
measure: The CMT Infant Scale Part 3
time frame: 1 year
description: The CMT Infant Scale upper limb and fine motor items
measure: Evaluate CMT Infant Scale (CMTInfS) in CMT natural history study
time frame: 6 months - 1 year
description: The sections of the CMT Infant Scale which are found to be clinically/functionally useful after one year of analysis will be carried forward for all infant patients every 6 months to one year.
arm group label: Patients with CMT
description: Two groups of patients will be included: Group 1 (Definitive): Children with known CMT where genetic testing confirms the diagnosis, or children with a clinical diagnosis including electrophysiology confirming the presence of CMT and a corresponding family history where a first or second degree relative has a genetic diagnosis; or Group 2 (At risk): A clinical diagnosis of CMT awaiting genetic testing or confirmatory electrophysiology and evidence of a genetic diagnosis in a first or second degree relative; or individuals identified as being at risk of a CMT diagnosis (prodromal patients), without the onset of signs or symptoms.
arm group label: Controls
description: Healthy controls will be included from unaffected family members or friends accompanying patients at INC sites. Healthy controls are defined as boys and girls aged 0-≤4 years without a diagnosis of CMT or any of the other study exclusion criteria.
intervention type: Other
intervention name: No intervention involved
arm group label: Controls
arm group label: Patients with CMT
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: N/A
maximum age: 4 Years
healthy volunteers: Accepts Healthy Volunteers
facility: 
status: Recruiting
contact: 
facility: 
status: Not yet recruiting
contact: 
facility: 
status: Recruiting
contact: 
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status: Recruiting
contact: 
country: Australia
country: Italy
country: United States
url: https://www.rarediseasesnetwork.org/cms/inc/6611
description: 6611: Charcot-Marie-Tooth disease Infant Scale Recruitment Website
responsible party type: Principal Investigator
investigator affiliation: Sydney Children's Hospitals Network
investigator full name: Joshua Burns
investigator title: Professor of Allied Health (Paediatrics)
mesh term: Tooth Diseases
mesh term: Charcot-Marie-Tooth Disease
mesh term: Nerve Compression Syndromes
mesh term: Hereditary Sensory and Motor Neuropathy