<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/NCT02194010</url>
  </required_header>
  <id_info>
    <org_study_id>INC 6610</org_study_id>
    <secondary_id>U54NS065712</secondary_id>
    <nct_id>NCT02194010</nct_id>
  </id_info>
  <brief_title>Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)</brief_title>
  <acronym>DSI and HMSN</acronym>
  <official_title>Disability Severity Scale (DSI) and Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Iowa</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>
    <collaborator>
      <agency>Charcot-Marie-Tooth Association</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Muscular Dystrophy Association</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of Rochester</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>University of South Florida</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>University of Iowa</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this research study is to create and validate two patient reported outcome&#xD;
      (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in&#xD;
      patients with inherited neuropathies. These questionnaires ask questions about what&#xD;
      participants think disability is for themselves or others with inherited neuropathies. These&#xD;
      questionnaires are a useful tool when evaluating whether treatments are working in the day to&#xD;
      day life of an individual, although there are currently no questionnaires available&#xD;
      specifically for people who have Charcot Marie Tooth disease (CMT).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Charcot Marie Tooth Disease (CMT) is a group of disorders that cause a peripheral neuropathy,&#xD;
      impairing the long nerves that go to the feet and hands. Due to the problems with the&#xD;
      peripheral nerves, people with CMT have muscle weakness and sensory loss that impairs their&#xD;
      physical abilities. CMT affects approximately 1 in 2500 people and is caused my mutations in&#xD;
      over 70 different genes. Models exist for many sub-types of CMT that have led to an increased&#xD;
      understanding of the biological basis for these disorders. These advances have also made&#xD;
      rational therapies for CMT a realistic possibility. However, clinical trials have been&#xD;
      limited in CMT by a combination of lack of natural history data for many subtypes, a lack of&#xD;
      outcome measures that can detect change in a short period for slowly progressive forms of&#xD;
      CMT, and a lack of outcome measures for young children with CMT.&#xD;
&#xD;
      In order to develop treatments based on the biological advances in the inherited&#xD;
      neuropathies, it is necessary to have measured the natural history of the various disorders.&#xD;
      It is only by knowing the natural history that one understands the onset of clinical&#xD;
      symptoms, the rate of progression, and the ultimate prognosis of these diseases. For these&#xD;
      reasons, the INC has dedicated much of its effort to develop sensitive outcome instruments,&#xD;
      including PRO tools, to measure the natural history of CMT. It is the investigators goal to&#xD;
      establish such an instrument for overall impairment for use in both natural history analysis&#xD;
      and clinical trials. To develop and validate this instrument, the investigators will be&#xD;
      asking people who have CMT to complete two questionnaires, the DSI and the HMSN-R-ODS. These&#xD;
      relate to overall symptom impairment due to CMT. These instruments may be used to help us&#xD;
      understand the overall progression of CMT and will ultimately help with clinical trials when&#xD;
      they are available for the various forms of CMT.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>April 2014</start_date>
  <completion_date type="Actual">February 2019</completion_date>
  <primary_completion_date type="Actual">February 2019</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>Disability Severity Index</measure>
    <time_frame>Approximately 30 minutes</time_frame>
    <description>The DSI asks the subject to provide information about how disability is reflected in general by equipment required for mobility. Therefore, the DSI asks the subject if a person in general was wearing AFOs (braces) for mobility, what level of disability would that reflect using both a quantitative measurement of score and a verbal method of scoring (none, mild, moderate, severe). These questions do not apply to the participant themselves, just in general how disabled they believe a person to be based on the mobility assistive devices that that person requires. Then a research team member will complete the last page which specifically asks about what that subject is using for mobility.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)</measure>
    <time_frame>Approximately 30 minutes</time_frame>
    <description>The HMSN-R-ODS is a functional score about the subject asking about their daily activities and overall health. Questions are grouped in various sections and include: Changing and holding body positions; walking and movement; movement by transport; carrying, moving, or handling objects; self-care; household activities and duties; taking care (daily tasks) - general; meeting other people; work, study, and hobbies. These questions relate specifically to the subject and ask how they can perform these various activities with little to severe difficulty.</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">563</enrollment>
  <condition>Charcot Marie Tooth Disease</condition>
  <condition>Inherited Peripheral Neuropathy</condition>
  <arm_group>
    <arm_group_label>Participants evaluated at INC sites</arm_group_label>
    <description>Participants being evaluated at the INC sites will participate in both the DSI and HMSN-R-ODS by completing these PROs during their visit.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>INC Contact Registry</arm_group_label>
    <description>INC Contact Registry completes the HMSN-R-ODS on web http://rarediseasesnetwork.epi.usf.edu/INC/</description>
  </arm_group>
  <eligibility>
    <study_pop>
      <textblock>
        Participants enrolled in INC protocol 6601 and being seen at a participating site for an&#xD;
        evaluation of CMT will be asked if they would like to participate in this protocol. The&#xD;
        individuals being recruited will have already signed consent forms and be enrolled in 6601.&#xD;
        They will be informed that it is completely voluntary to participate in this protocol, and&#xD;
        they can still be enrolled in INC 6601 without participating in this project.&#xD;
&#xD;
        Alternative participants who are registered with our INC Patient Registry will be alerted&#xD;
        to the form through an email and asked to participate due to their diagnosis of suspected&#xD;
        diagnosis of CMT.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  individual has an inherited peripheral neuropathy or is suspected to have an inherited&#xD;
             peripheral neuropathy&#xD;
&#xD;
          -  individual is 10-99 years of age&#xD;
&#xD;
          -  individual signs consent or assent form depending on age and requirements&#xD;
&#xD;
          -  individual is participating in INC 6601 at one of the participating sites OR is a&#xD;
             participant on the INC Patient Registry&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  inability to provide informed consent&#xD;
&#xD;
          -  outside of age range&#xD;
&#xD;
          -  inability to complete questionnaire&#xD;
&#xD;
          -  does not understand English&#xD;
&#xD;
          -  is not participating in INC 6601 or on the INC Patient Registry&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>10 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Michael E Shy, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Universit of Iowa</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of Iowa</name>
      <address>
        <city>Iowa City</city>
        <state>Iowa</state>
        <zip>52242</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Rochester Medical Center</name>
      <address>
        <city>Rochester</city>
        <state>New York</state>
        <zip>14627</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>National Hospital of Neurology and Neurosurgery</name>
      <address>
        <city>London</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>February 2019</verification_date>
  <study_first_submitted>April 2, 2014</study_first_submitted>
  <study_first_submitted_qc>July 16, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">July 18, 2014</study_first_posted>
  <last_update_submitted>February 6, 2019</last_update_submitted>
  <last_update_submitted_qc>February 6, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">February 7, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of Iowa</investigator_affiliation>
    <investigator_full_name>Michael Shy</investigator_full_name>
    <investigator_title>Professor of Neurology</investigator_title>
  </responsible_party>
  <keyword>Outcome Measure</keyword>
  <keyword>Patient Reported Questionnaires</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Tooth Diseases</mesh_term>
    <mesh_term>Peripheral Nervous System 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/NCT02194010
org study id: INC 6610
secondary id: U54NS065712
nct id: NCT02194010
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
has dmc: No
The purpose of this research study is to create and validate two patient reported outcome
      (PRO) questionnaires. PRO questionnaires ask questions that help to measure disability in
      patients with inherited neuropathies. These questionnaires ask questions about what
      participants think disability is for themselves or others with inherited neuropathies. These
      questionnaires are a useful tool when evaluating whether treatments are working in the day to
      day life of an individual, although there are currently no questionnaires available
      specifically for people who have Charcot Marie Tooth disease (CMT).
Charcot Marie Tooth Disease (CMT) is a group of disorders that cause a peripheral neuropathy,
      impairing the long nerves that go to the feet and hands. Due to the problems with the
      peripheral nerves, people with CMT have muscle weakness and sensory loss that impairs their
      physical abilities. CMT affects approximately 1 in 2500 people and is caused my mutations in
      over 70 different genes. Models exist for many sub-types of CMT that have led to an increased
      understanding of the biological basis for these disorders. These advances have also made
      rational therapies for CMT a realistic possibility. However, clinical trials have been
      limited in CMT by a combination of lack of natural history data for many subtypes, a lack of
      outcome measures that can detect change in a short period for slowly progressive forms of
      CMT, and a lack of outcome measures for young children with CMT.

      In order to develop treatments based on the biological advances in the inherited
      neuropathies, it is necessary to have measured the natural history of the various disorders.
      It is only by knowing the natural history that one understands the onset of clinical
      symptoms, the rate of progression, and the ultimate prognosis of these diseases. For these
      reasons, the INC has dedicated much of its effort to develop sensitive outcome instruments,
      including PRO tools, to measure the natural history of CMT. It is the investigators goal to
      establish such an instrument for overall impairment for use in both natural history analysis
      and clinical trials. To develop and validate this instrument, the investigators will be
      asking people who have CMT to complete two questionnaires, the DSI and the HMSN-R-ODS. These
      relate to overall symptom impairment due to CMT. These instruments may be used to help us
      understand the overall progression of CMT and will ultimately help with clinical trials when
      they are available for the various forms of CMT.
observational model: Cohort
time perspective: Prospective
measure: Disability Severity Index
time frame: Approximately 30 minutes
description: The DSI asks the subject to provide information about how disability is reflected in general by equipment required for mobility. Therefore, the DSI asks the subject if a person in general was wearing AFOs (braces) for mobility, what level of disability would that reflect using both a quantitative measurement of score and a verbal method of scoring (none, mild, moderate, severe). These questions do not apply to the participant themselves, just in general how disabled they believe a person to be based on the mobility assistive devices that that person requires. Then a research team member will complete the last page which specifically asks about what that subject is using for mobility.
measure: Hereditary Motor and Sensory Neuropathy Overall Disability Scale (HMSN-R-ODS)
time frame: Approximately 30 minutes
description: The HMSN-R-ODS is a functional score about the subject asking about their daily activities and overall health. Questions are grouped in various sections and include: Changing and holding body positions; walking and movement; movement by transport; carrying, moving, or handling objects; self-care; household activities and duties; taking care (daily tasks) - general; meeting other people; work, study, and hobbies. These questions relate specifically to the subject and ask how they can perform these various activities with little to severe difficulty.
arm group label: Participants evaluated at INC sites
description: Participants being evaluated at the INC sites will participate in both the DSI and HMSN-R-ODS by completing these PROs during their visit.
arm group label: INC Contact Registry
description: INC Contact Registry completes the HMSN-R-ODS on web http://rarediseasesnetwork.epi.usf.edu/INC/
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 10 Years
maximum age: N/A
healthy volunteers: No
last name: Michael E Shy, MD
role: Principal Investigator
affiliation: Universit of Iowa
facility: 
facility: 
facility: 
country: United Kingdom
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of Iowa
investigator full name: Michael Shy
investigator title: Professor of Neurology
mesh term: Tooth Diseases
mesh term: Peripheral Nervous System Diseases
mesh term: Charcot-Marie-Tooth Disease
mesh term: Nerve Compression Syndromes
mesh term: Hereditary Sensory and Motor Neuropathy