<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/NCT03782883</url>
  </required_header>
  <id_info>
    <org_study_id>5101-01-2018</org_study_id>
    <nct_id>NCT03782883</nct_id>
  </id_info>
  <brief_title>The Impact of Charcot-Marie-Tooth Disease in the Real World</brief_title>
  <official_title>The Impact of Charcot-Marie-Tooth Disease in the Real World</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Vitaccess Ltd</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>ACMT-Rete per la malattia di Charcot-Marie-Tooth OdV</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Charcot-Marie-Tooth Association</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Charcot-Marie-Tooth UK</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>CMT France</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Federación Española de Enfermedades Neuromusculares</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Hereditary Neuropathy Foundation</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>Pharnext SA</agency>
      <agency_class>Other</agency_class>
    </collaborator>
  </sponsors>
  <source>Vitaccess Ltd</source>
  <oversight_info>
    <has_dmc>Yes</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>
      An observational, non-interventional registry study to collect real-world data from people&#xD;
      living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to&#xD;
      researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      The registry uses Vitaccess' digital real-world evidence platform and has been developed in&#xD;
      collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the&#xD;
      biopharmaceutical company Pharnext.&#xD;
&#xD;
      Eligible participants install a study app on their smartphone. Researchers access aggregated,&#xD;
      anonymised data via a cloud-based research portal.&#xD;
&#xD;
      The platform provides benefits to participants, which it is hoped will encourage persistence&#xD;
      with data submission; these include options to download a copy of their symptom diary, a&#xD;
      clinically-validated Knowledge feature, and access to high-level results from the study data.&#xD;
&#xD;
      The aggregated data are available in close to real time via &quot;dashboards&quot; and can be analysed&#xD;
      according to a number of pre-set criteria (e.g. disease stage, age, geographic location).&#xD;
&#xD;
      State-of-the-art technologies and security policies are used in the platform to ensure&#xD;
      industry-standard data storage and privacy for all users. Participants' personally&#xD;
      identifiable information will remain confidential at all times, and researchers will not be&#xD;
      able to identify individuals.&#xD;
&#xD;
      The study is ethics-approved in all scope countries and led by a Scientific Advisory Board&#xD;
      comprising representatives from international PAOs, patients and key opinion leaders from&#xD;
      each country, and study leads from both Pharnext Société Anonyme (SA) and Vitaccess Ltd.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Recruiting</overall_status>
  <start_date type="Actual">October 9, 2018</start_date>
  <completion_date type="Anticipated">December 31, 2023</completion_date>
  <primary_completion_date type="Anticipated">December 31, 2023</primary_completion_date>
  <study_type>Observational [Patient Registry]</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Ecologic or Community</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <target_duration>62 Months</target_duration>
  <primary_outcome>
    <measure>EuroQoL 5-dimension 5-level (EQ-5D-5L)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The EQ-5D-5L comprises two parts - the EQ-5D-5L descriptive system and the EQ Visual Analogue Scale (EQ VAS).&#xD;
The descriptive system comprises 5 dimensions (mobility, self care, usual activities, pain/discomfort, and anxiety/depression), each with 5 levels (no problems, slight problems, moderate problems, severe problems, and extreme problems - i.e., higher scores represent worse health). The digits for 5 dimensions can be combined in a 5-digit number describing the respondent's health state.&#xD;
The EQ VAS records the respondent's self-rated health on vertical, visual analogue scale with endpoints labelled 'the best health you can imagine' and 'the worst health you can imagine'. Higher scores represent better self-perceived health.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Work Limitations Questionnaire (WLQ)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The WLQ measures the impact of CMT on participants' work ability and productivity. The measure comprises 25 items that ask respondents to rate their level of difficulty or ability to perform specific job demands, aggregated into four domains: time management, physical demands, mental-interpersonal demands, and output demands. Domain scores range from 0 to 100 and the recall period is the previous 2 weeks. WLQ domain scores can be converted into an estimate of productivity loss using an algorithm.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Brief Fatigue Inventory (BFI)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The BFI assesses the fatigue severity in patients with CMT. The measure comprises 10 items, although the first item asks about usual fatigue over the past week (with the respondent answering &quot;yes&quot; or &quot;no&quot;) and is not included in the overall score. The remaining nine items assess general fatigue within two subscales: fatigue severity (three items), and the impact of fatigue on daily functioning (six items). The measure uses a 10-point numeric rating scale, and a recall period of 24 hours. A global fatigue score can be calculated by averaging all nine items.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Patient-Reported Outcomes Measurement Information System (PROMIS) Pain Intensity 3a and Interference 8a</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The PROMIS pain intensity measure includes two items that assess pain intensity over the last 7 days (average and worst pain), and one for pain intensity &quot;right now&quot;; each scores using a 5-point scale. Scores range from 2-10. Higher scores represent worst pain. This measure is generic rather than disease-specific.&#xD;
The PROMIS pain interference measure assesses the extent to which pain hinders engagement with social, cognitive, emotional, physical and recreational activities, sleep, and enjoyment in life over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse interference. This measure is generic rather than disease-specific.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Bespoke questionnaire for this study</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>Two cramp-specific items were developed for inclusion in the survey, measuring cramp frequency and intensity. The cramp frequency item asks &quot;In the past 7 days, how many days did you experience cramp?&quot; and has five possible responses: had no cramp, 1-2 days, 3-4 days, 5-6 days, every day. The cramp intensity item asks &quot;In the past 7 days, how intense was your cramp at its worst?&quot; and has five possible responses: had no cramp, mild, moderate, severe, very severe. Higher scores on both items represent greater cramp frequency and intensity respectively.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Patient-Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance 8a</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The PROMIS sleep disturbance measure assesses self-reported perceptions of sleep quality, sleep depth, and restoration associated with sleep over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse sleep disturbance. This measure is generic rather than disease-specific.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Falls Efficacy Scale - International (FES-I)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The FES-I measures the level of concern about falling during social and physical activities inside and outside hte home, whether or not the person actually does the activity. The &quot;usual&quot; level of concern is measured on a four-point Likert scale (1 = not at all concerned to 4 = very concerned), with a time frame of &quot;usual&quot;. Scores range from 16-64. Higher scores represent greater concern about falling.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Lower Extremity Function Scale (LEFS)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The LEFS evaluates difficulties because of lower limb problems in 20 activities, including work/school activities, hobbies, moving around the home, dressing, lifting, standing, sitting, walking, and running. The level of difficulty is assessed for &quot;today&quot; using a 5-point Likert scale (0 = extreme difficulty or unable to perform activity; 5 = No difficulty). Lower scores represent greater difficulties experience because of lower limb problems.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>QuickDash (Disabilities of the Arm, Shoulder and Hand)</measure>
    <time_frame>Throughout study completion, up to 62 months</time_frame>
    <description>The QuickDash measure uses 11 items to measure physical function and symptoms in people with any or multiple musculoskeletal disorders of the upper limb. Six questions relate to the ability to perform six activities over the last week, ranging from opening a jar, carrying, washing and recreational activities; two questions relate to impact on social and daily activities; two questions ask the person to rate the severity of pain and tingling in the arms, shoulder or hand, and one question relates to the effects of pain on sleep. All questions are rated 1-5 (no difficulty/none/not at all through to unable/extreme difficulty). Scores range from 11-55. Higher scores represent greater difficulties with physical function and symptoms.</description>
  </secondary_outcome>
  <enrollment type="Anticipated">2500</enrollment>
  <condition>Charcot-Marie-Tooth Disease</condition>
  <eligibility>
    <study_pop>
      <textblock>
        Adults (age &gt;18 years) with any stage and any subtype of Charcot-Marie-Tooth disease, who&#xD;
        are resident in France, Germany, Italy, Spain, the United Kingdom (UK) or the USA, so long&#xD;
        as they have a National Health Service (NHS) or Community Health Index (CHI) number (or&#xD;
        equivalent) and are willing to use their own smartphone / tablet.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        (*) Aged 18 years and over (*) Diagnosed with any stage and any subtype of&#xD;
        Charcot-Marie-Tooth disease (*) Resident in France, Germany, Italy, Spain, the UK, or the&#xD;
        USA (*) Have a National Health Service (NHS) or Community Health Index (CHI) number, or&#xD;
        equivalent (*) Willing to use their own smartphone&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        (*) No specific exclusion criteria.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Mark JW Larkin, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Vitaccess Ltd</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Mark JW Larkin, PhD</last_name>
    <phone>+44 1865 818983</phone>
    <email>mark.larkin@vitaccess.com</email>
  </overall_contact>
  <overall_contact_backup>
    <last_name>Samuel Llewellyn, MPH</last_name>
    <phone>+44 1865 818983</phone>
    <email>samuel.llewellyn@vitaccess.com</email>
  </overall_contact_backup>
  <location>
    <facility>
      <name>Vitaccess Ltd</name>
      <address>
        <city>London</city>
        <zip>TW9 2JA</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>Mark JW Larkin, PhD</last_name>
      <phone>+44 1865 818983</phone>
      <email>mark.larkin@vitaccess.com</email>
    </contact>
    <contact_backup>
      <last_name>Samuel Llewellyn, MPH</last_name>
      <phone>+44 1865 818983</phone>
      <email>samuel.llewellyn@vitaccess.com</email>
    </contact_backup>
  </location>
  <location_countries>
    <country>United Kingdom</country>
  </location_countries>
  <link>
    <url>https://vitaccess.com/charcot-marie-tooth-disease-dataset/</url>
    <description>Research portal via which anonymised data can be made available to approved researchers</description>
  </link>
  <link>
    <url>https://vitaccess.com/cmt-and-me/</url>
    <description>Registration page to enrol in the study</description>
  </link>
  <link>
    <url>https://vitaccess.com/</url>
    <description>Digital platform used to support the study</description>
  </link>
  <reference>
    <citation>Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaro RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, Llewellyn S, Larkin M, Boutalbi Y. Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study. Neurodegener Dis Manag. 2021 Feb;11(1):21-33. doi: 10.2217/nmt-2020-0044. Epub 2020 Oct 22.</citation>
    <PMID>33086913</PMID>
  </reference>
  <verification_date>June 2023</verification_date>
  <study_first_submitted>December 17, 2018</study_first_submitted>
  <study_first_submitted_qc>December 19, 2018</study_first_submitted_qc>
  <study_first_posted type="Actual">December 20, 2018</study_first_posted>
  <last_update_submitted>June 26, 2023</last_update_submitted>
  <last_update_submitted_qc>June 26, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">June 27, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Vitaccess Ltd</investigator_affiliation>
    <investigator_full_name>Mark Larkin</investigator_full_name>
    <investigator_title>Director</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>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
    <ipd_description>Aggregated data research dashboards will be available via industry subscriptions or free academic access.</ipd_description>
  </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/NCT03782883
org study id: 5101-01-2018
nct id: NCT03782883
lead sponsor: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
collaborator: 
has dmc: Yes
is fda regulated drug: No
is fda regulated device: No
An observational, non-interventional registry study to collect real-world data from people
      living with Charcot-Marie-Tooth disease (CMT) and its treatment, which will be available to
      researchers to further the knowledge of Charcot-Marie-Tooth disease and improve patient care.
The registry uses Vitaccess' digital real-world evidence platform and has been developed in
      collaboration with CMT experts, Patient Advocacy Organizations (PAOs) and the
      biopharmaceutical company Pharnext.

      Eligible participants install a study app on their smartphone. Researchers access aggregated,
      anonymised data via a cloud-based research portal.

      The platform provides benefits to participants, which it is hoped will encourage persistence
      with data submission; these include options to download a copy of their symptom diary, a
      clinically-validated Knowledge feature, and access to high-level results from the study data.

      The aggregated data are available in close to real time via "dashboards" and can be analysed
      according to a number of pre-set criteria (e.g. disease stage, age, geographic location).

      State-of-the-art technologies and security policies are used in the platform to ensure
      industry-standard data storage and privacy for all users. Participants' personally
      identifiable information will remain confidential at all times, and researchers will not be
      able to identify individuals.

      The study is ethics-approved in all scope countries and led by a Scientific Advisory Board
      comprising representatives from international PAOs, patients and key opinion leaders from
      each country, and study leads from both Pharnext Société Anonyme (SA) and Vitaccess Ltd.
observational model: Ecologic or Community
time perspective: Prospective
measure: EuroQoL 5-dimension 5-level (EQ-5D-5L)
time frame: Throughout study completion, up to 62 months
description: The EQ-5D-5L comprises two parts - the EQ-5D-5L descriptive system and the EQ Visual Analogue Scale (EQ VAS).
The descriptive system comprises 5 dimensions (mobility, self care, usual activities, pain/discomfort, and anxiety/depression), each with 5 levels (no problems, slight problems, moderate problems, severe problems, and extreme problems - i.e., higher scores represent worse health). The digits for 5 dimensions can be combined in a 5-digit number describing the respondent's health state.
The EQ VAS records the respondent's self-rated health on vertical, visual analogue scale with endpoints labelled 'the best health you can imagine' and 'the worst health you can imagine'. Higher scores represent better self-perceived health.
measure: Work Limitations Questionnaire (WLQ)
time frame: Throughout study completion, up to 62 months
description: The WLQ measures the impact of CMT on participants' work ability and productivity. The measure comprises 25 items that ask respondents to rate their level of difficulty or ability to perform specific job demands, aggregated into four domains: time management, physical demands, mental-interpersonal demands, and output demands. Domain scores range from 0 to 100 and the recall period is the previous 2 weeks. WLQ domain scores can be converted into an estimate of productivity loss using an algorithm.
measure: Brief Fatigue Inventory (BFI)
time frame: Throughout study completion, up to 62 months
description: The BFI assesses the fatigue severity in patients with CMT. The measure comprises 10 items, although the first item asks about usual fatigue over the past week (with the respondent answering "yes" or "no") and is not included in the overall score. The remaining nine items assess general fatigue within two subscales: fatigue severity (three items), and the impact of fatigue on daily functioning (six items). The measure uses a 10-point numeric rating scale, and a recall period of 24 hours. A global fatigue score can be calculated by averaging all nine items.
measure: Patient-Reported Outcomes Measurement Information System (PROMIS) Pain Intensity 3a and Interference 8a
time frame: Throughout study completion, up to 62 months
description: The PROMIS pain intensity measure includes two items that assess pain intensity over the last 7 days (average and worst pain), and one for pain intensity "right now"; each scores using a 5-point scale. Scores range from 2-10. Higher scores represent worst pain. This measure is generic rather than disease-specific.
The PROMIS pain interference measure assesses the extent to which pain hinders engagement with social, cognitive, emotional, physical and recreational activities, sleep, and enjoyment in life over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse interference. This measure is generic rather than disease-specific.
measure: Bespoke questionnaire for this study
time frame: Throughout study completion, up to 62 months
description: Two cramp-specific items were developed for inclusion in the survey, measuring cramp frequency and intensity. The cramp frequency item asks "In the past 7 days, how many days did you experience cramp?" and has five possible responses: had no cramp, 1-2 days, 3-4 days, 5-6 days, every day. The cramp intensity item asks "In the past 7 days, how intense was your cramp at its worst?" and has five possible responses: had no cramp, mild, moderate, severe, very severe. Higher scores on both items represent greater cramp frequency and intensity respectively.
measure: Patient-Reported Outcomes Measurement Information System (PROMIS) Sleep Disturbance 8a
time frame: Throughout study completion, up to 62 months
description: The PROMIS sleep disturbance measure assesses self-reported perceptions of sleep quality, sleep depth, and restoration associated with sleep over the last 7 days using a 5-point scale. Scores range from 8-40. Higher scores represent worse sleep disturbance. This measure is generic rather than disease-specific.
measure: Falls Efficacy Scale - International (FES-I)
time frame: Throughout study completion, up to 62 months
description: The FES-I measures the level of concern about falling during social and physical activities inside and outside hte home, whether or not the person actually does the activity. The "usual" level of concern is measured on a four-point Likert scale (1 = not at all concerned to 4 = very concerned), with a time frame of "usual". Scores range from 16-64. Higher scores represent greater concern about falling.
measure: Lower Extremity Function Scale (LEFS)
time frame: Throughout study completion, up to 62 months
description: The LEFS evaluates difficulties because of lower limb problems in 20 activities, including work/school activities, hobbies, moving around the home, dressing, lifting, standing, sitting, walking, and running. The level of difficulty is assessed for "today" using a 5-point Likert scale (0 = extreme difficulty or unable to perform activity; 5 = No difficulty). Lower scores represent greater difficulties experience because of lower limb problems.
measure: QuickDash (Disabilities of the Arm, Shoulder and Hand)
time frame: Throughout study completion, up to 62 months
description: The QuickDash measure uses 11 items to measure physical function and symptoms in people with any or multiple musculoskeletal disorders of the upper limb. Six questions relate to the ability to perform six activities over the last week, ranging from opening a jar, carrying, washing and recreational activities; two questions relate to impact on social and daily activities; two questions ask the person to rate the severity of pain and tingling in the arms, shoulder or hand, and one question relates to the effects of pain on sleep. All questions are rated 1-5 (no difficulty/none/not at all through to unable/extreme difficulty). Scores range from 11-55. Higher scores represent greater difficulties with physical function and symptoms.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Mark JW Larkin, PhD
role: Principal Investigator
affiliation: Vitaccess Ltd
last name: Mark JW Larkin, PhD
phone: +44 1865 818983
email: mark.larkin@vitaccess.com
last name: Samuel Llewellyn, MPH
phone: +44 1865 818983
email: samuel.llewellyn@vitaccess.com
facility: 
status: Recruiting
contact: 
contact backup: 
country: United Kingdom
url: https://vitaccess.com/charcot-marie-tooth-disease-dataset/
description: Research portal via which anonymised data can be made available to approved researchers
url: https://vitaccess.com/cmt-and-me/
description: Registration page to enrol in the study
url: https://vitaccess.com/
description: Digital platform used to support the study
citation: Thomas FP, Saporta M, Attarian S, Sevilla T, Mascaro RS, Fabrizi GM, Genovese F, Gray A, Bull S, Tanesse D, Rego M, Moore A, Hollett C, Monteiro K, Paoli X, Llewellyn S, Larkin M, Boutalbi Y. Patient-reported impact of Charcot-Marie-Tooth disease: protocol for a real-world digital lifestyle study. Neurodegener Dis Manag. 2021 Feb;11(1):21-33. doi: 10.2217/nmt-2020-0044. Epub 2020 Oct 22.
PMID: 33086913
responsible party type: Principal Investigator
investigator affiliation: Vitaccess Ltd
investigator full name: Mark Larkin
investigator title: Director
mesh term: Tooth Diseases
mesh term: Charcot-Marie-Tooth Disease
mesh term: Nerve Compression Syndromes
mesh term: Hereditary Sensory and Motor Neuropathy
sharing ipd: No
ipd description: Aggregated data research dashboards will be available via industry subscriptions or free academic access.