<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/NCT02985710</url>
  </required_header>
  <id_info>
    <org_study_id>2015P000205</org_study_id>
    <nct_id>NCT02985710</nct_id>
  </id_info>
  <brief_title>Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan</brief_title>
  <official_title>Assessment of Small Fiber Neuropathy in Rare Diseases Using Sudoscan</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Massachusetts General Hospital</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Massachusetts General Hospital</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel&#xD;
      noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown&#xD;
      that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can&#xD;
      be performed non-invasively, quickly and effectively. The investigators aim to study the use&#xD;
      of Sudoscan in rare disease condition associated with small fiber polyneuropathy.&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Small fiber polyneuropathy (SFPN) is diagnosed through a combination of symptoms, signs and&#xD;
      confirmatory diagnostic testing. Nerve conduction studies are not sensitive enough in most of&#xD;
      the cases leaving the ankle skin biopsy with measurement of intraepidermal nerve fiber&#xD;
      density (IENFD) as the main diagnostic tool. Despite its utility and reproducibility, skin&#xD;
      biopsy is invasive, expensive and requires a central laboratory for processing and&#xD;
      interpretation. Quantitative sudomotor axon reflex testing (QSART) is also routinely used for&#xD;
      evaluation of small fiber neuropathy as sudomotor axons can also be involved. This test&#xD;
      however remains technically challenging and requires testing conditions in specialized labs&#xD;
      that are not always suitable for all patients' population. By comparing findings on skin&#xD;
      biopsy and/or QSRT, accepted gold standard for diagnosing SFPN, the investigators seek to&#xD;
      find faster, less-invasive ways to diagnose and monitor small-fiber polyneuropathy in rare&#xD;
      diseases using Sudoscan measurement.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date>August 2016</start_date>
  <completion_date type="Actual">August 2020</completion_date>
  <primary_completion_date type="Actual">December 22, 2019</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <primary_purpose>Diagnostic</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.</measure>
    <time_frame>12 months</time_frame>
    <description>The internal software of the Sudoscan will allow analysis of skin conductance in all patients and quantification into normal or abnormal. Correlation of an abnormal conductance measurement with clinical symptoms and signs of small fiber neuropathy will be evaluated for accuracy of Sudoscan measurements</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.</measure>
    <time_frame>48 months</time_frame>
    <description>Distribution of the electrochemical skin conductance (ESC) in both hands and feet was reviewed as an indirect measure of the subject's capacity to sweat. Normative scales of adult sweat function are preloaded in the device and compared to actual measurements to determine if a subject's sweat response is reduced, which is associated with neuropathy. A positive outcome is the identification of a lower ESC in either hands or feet that distinguishes Fabry disease from other disorders and would be a reflection of the presence of SFPN.</description>
  </secondary_outcome>
  <number_of_arms>2</number_of_arms>
  <enrollment type="Actual">102</enrollment>
  <condition>Small Fiber Neuropathy</condition>
  <condition>Fabry Disease</condition>
  <condition>Ehlers Danlos Syndrome</condition>
  <condition>Mitochondrial Disease</condition>
  <arm_group>
    <arm_group_label>Sudoscan only</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>Patients in this arm will only undergoing testing with Sudoscan.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Sudoscan Plus</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.</description>
  </arm_group>
  <intervention>
    <intervention_type>Device</intervention_type>
    <intervention_name>Sudoscan</intervention_name>
    <description>The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
    <arm_group_label>Sudoscan Plus</arm_group_label>
    <arm_group_label>Sudoscan only</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Skin biopsy</intervention_name>
    <description>For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).</description>
    <arm_group_label>Sudoscan Plus</arm_group_label>
  </intervention>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>QSART</intervention_name>
    <description>QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
    <arm_group_label>Sudoscan Plus</arm_group_label>
    <other_name>Quantitative Sudomotor Autonomic Reflex Testing</other_name>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Males and females with confirmed disease: Fabry (by GLA enzymes and/or DNA testing)&#xD;
             naïve and on ERT, Mitochondrial diseases (electron transport chain and/or DNA testing)&#xD;
             or connective tissue diseases (clinical criteria and/or DNA testing when available)&#xD;
&#xD;
          -  Consenting adults (18 years and older) who agrees and consents to skin biopsy and&#xD;
             QSART procedure&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Subjects with cognitive, psychiatric, or other problems that preclude informed&#xD;
             consent.&#xD;
&#xD;
          -  Patients with history of glucose intolerance or diabetes.&#xD;
&#xD;
          -  Patient on chemotherapy&#xD;
&#xD;
          -  People with any open or bleeding wounds at any sensor plate contact surface location&#xD;
&#xD;
          -  People with any type of implantable device&#xD;
&#xD;
          -  People with missing hand(s) and/or leg(s)&#xD;
&#xD;
          -  Pregnant women or women who are uncertain about a possible pregnancy&#xD;
&#xD;
          -  Patients sensitive to chemicals used to induce sweating&#xD;
&#xD;
          -  Patients with heat intolerance&#xD;
&#xD;
          -  Patients with bleeding disorders&#xD;
&#xD;
          -  Patients on current anticoagulant therapy&#xD;
&#xD;
          -  Patients with keloids on the intended biopsy site&#xD;
&#xD;
          -  People with hypersensitivity to local amide-type anesthetics&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>8 Years</minimum_age>
    <maximum_age>70 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Amel Karaa, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Massachusetts General Hospital</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Massachusetts General Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02114</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>September 2021</verification_date>
  <study_first_submitted>September 12, 2016</study_first_submitted>
  <study_first_submitted_qc>December 5, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 7, 2016</study_first_posted>
  <results_first_submitted>April 28, 2021</results_first_submitted>
  <results_first_submitted_qc>September 10, 2021</results_first_submitted_qc>
  <results_first_posted type="Actual">October 7, 2021</results_first_posted>
  <last_update_submitted>September 10, 2021</last_update_submitted>
  <last_update_submitted_qc>September 10, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">October 7, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>Massachusetts General Hospital</investigator_affiliation>
    <investigator_full_name>Amel Karaa</investigator_full_name>
    <investigator_title>MD</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Fabry Disease</mesh_term>
    <mesh_term>Small Fiber Neuropathy</mesh_term>
    <mesh_term>Ehlers-Danlos Syndrome</mesh_term>
    <mesh_term>Mitochondrial Diseases</mesh_term>
    <mesh_term>Rare Diseases</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
    <ipd_description>Scientific publication at the end of the study</ipd_description>
  </patient_data>
  <provided_document_section>
    <provided_document>
      <document_type>Study Protocol and Statistical Analysis Plan</document_type>
      <document_has_protocol>Yes</document_has_protocol>
      <document_has_icf>No</document_has_icf>
      <document_has_sap>Yes</document_has_sap>
      <document_date>January 20, 2021</document_date>
      <document_url>https://ClinicalTrials.gov/ProvidedDocs/10/NCT02985710/Prot_SAP_000.pdf</document_url>
    </provided_document>
  </provided_document_section>

  <clinical_results>

    <participant_flow>
      <group_list>
        <group group_id="P1">
          <title>Sudoscan Only</title>
          <description>Patients in this arm will only undergoing testing with Sudoscan.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
        </group>
        <group group_id="P2">
          <title>Sudoscan Plus</title>
          <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.&#xD;
Skin biopsy: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).&#xD;
QSART: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
        </group>
      </group_list>
      <period_list>
        <period>
          <title>Overall Study</title>
          <milestone_list>
            <milestone>
              <title>STARTED</title>
              <participants_list>
                <participants group_id="P1" count="69"/>
                <participants group_id="P2" count="33"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="65"/>
                <participants group_id="P2" count="33"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>NOT COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="4"/>
                <participants group_id="P2" count="0"/>
              </participants_list>
            </milestone>
          </milestone_list>
        </period>
      </period_list>
    </participant_flow>

    <baseline>
      <group_list>
        <group group_id="B1">
          <title>Sudoscan Only</title>
          <description>Patients in this arm will only undergoing testing with Sudoscan.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
        </group>
        <group group_id="B2">
          <title>Sudoscan Plus</title>
          <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.&#xD;
Skin biopsy: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).&#xD;
QSART: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
        </group>
        <group group_id="B3">
          <title>Total</title>
          <description>Total of all reporting groups</description>
        </group>
      </group_list>
      <analyzed_list>
        <analyzed>
          <units>Participants</units>
          <scope>Overall</scope>
          <count_list>
            <count group_id="B1" value="65"/>
            <count group_id="B2" value="33"/>
            <count group_id="B3" value="98"/>
          </count_list>
        </analyzed>
      </analyzed_list>
      <measure_list>
        <measure>
          <title>Age</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <category_list>
                <category>
                  <title>&lt;=18 years</title>
                  <measurement_list>
                    <measurement group_id="B1" value="9"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="9"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Between 18 and 65 years</title>
                  <measurement_list>
                    <measurement group_id="B1" value="50"/>
                    <measurement group_id="B2" value="27"/>
                    <measurement group_id="B3" value="77"/>
                  </measurement_list>
                </category>
                <category>
                  <title>&gt;=65 years</title>
                  <measurement_list>
                    <measurement group_id="B1" value="6"/>
                    <measurement group_id="B2" value="6"/>
                    <measurement group_id="B3" value="12"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Age</title>
          <units>years</units>
          <param>Median</param>
          <dispersion>Standard Deviation</dispersion>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="42.4" spread="17.02"/>
                    <measurement group_id="B2" value="43.6" spread="15.35"/>
                    <measurement group_id="B3" value="42.5" spread="16.18"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Sex: Female, Male</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <category_list>
                <category>
                  <title>Female</title>
                  <measurement_list>
                    <measurement group_id="B1" value="45"/>
                    <measurement group_id="B2" value="22"/>
                    <measurement group_id="B3" value="67"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Male</title>
                  <measurement_list>
                    <measurement group_id="B1" value="20"/>
                    <measurement group_id="B2" value="11"/>
                    <measurement group_id="B3" value="31"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Race (NIH/OMB)</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <category_list>
                <category>
                  <title>American Indian or Alaska Native</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Asian</title>
                  <measurement_list>
                    <measurement group_id="B1" value="1"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="1"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Native Hawaiian or Other Pacific Islander</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Black or African American</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>White</title>
                  <measurement_list>
                    <measurement group_id="B1" value="64"/>
                    <measurement group_id="B2" value="33"/>
                    <measurement group_id="B3" value="97"/>
                  </measurement_list>
                </category>
                <category>
                  <title>More than one race</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Unknown or Not Reported</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                    <measurement group_id="B2" value="0"/>
                    <measurement group_id="B3" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Region of Enrollment</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <title>United States</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="65"/>
                    <measurement group_id="B2" value="33"/>
                    <measurement group_id="B3" value="98"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Small fiber polyneuropathy questionnaire</title>
          <description>The SFPN questionnaire has a one week recall period and is composed of 5 domains: Miscellaneous (10 questions), Sensation (8 questions), Circulation (6 questions), Gastrointestinal (6 questions), Pelvic (4 questions) as well as a pain rating scale and clinical questions. Participants who specifically agreed to respond to the SFPN questionnaire are included and the numbers reported represent the number of participants who have responded to the questionnaire.</description>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="51"/>
                    <measurement group_id="B2" value="20"/>
                    <measurement group_id="B3" value="71"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </measure_list>
    </baseline>

    <outcome_list>
      <outcome>
        <type>Primary</type>
        <title>Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.</title>
        <description>The internal software of the Sudoscan will allow analysis of skin conductance in all patients and quantification into normal or abnormal. Correlation of an abnormal conductance measurement with clinical symptoms and signs of small fiber neuropathy will be evaluated for accuracy of Sudoscan measurements</description>
        <time_frame>12 months</time_frame>
        <group_list>
          <group group_id="O1">
            <title>Sudoscan Only</title>
            <description>Patients in this arm will only undergoing testing with Sudoscan.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
          </group>
          <group group_id="O2">
            <title>Sudoscan Plus</title>
            <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.&#xD;
Skin biopsy: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).&#xD;
QSART: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
          </group>
        </group_list>
        <measure>
          <title>Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.</title>
          <description>The internal software of the Sudoscan will allow analysis of skin conductance in all patients and quantification into normal or abnormal. Correlation of an abnormal conductance measurement with clinical symptoms and signs of small fiber neuropathy will be evaluated for accuracy of Sudoscan measurements</description>
          <units>Participants</units>
          <param>Count of Participants</param>
          <analyzed_list>
            <analyzed>
              <units>Participants</units>
              <scope>Measure</scope>
              <count_list>
                <count group_id="O1" value="65"/>
                <count group_id="O2" value="33"/>
              </count_list>
            </analyzed>
          </analyzed_list>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="42"/>
                    <measurement group_id="O2" value="12"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </outcome>
      <outcome>
        <type>Secondary</type>
        <title>Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.</title>
        <description>Distribution of the electrochemical skin conductance (ESC) in both hands and feet was reviewed as an indirect measure of the subject's capacity to sweat. Normative scales of adult sweat function are preloaded in the device and compared to actual measurements to determine if a subject's sweat response is reduced, which is associated with neuropathy. A positive outcome is the identification of a lower ESC in either hands or feet that distinguishes Fabry disease from other disorders and would be a reflection of the presence of SFPN.</description>
        <time_frame>48 months</time_frame>
        <group_list>
          <group group_id="O1">
            <title>Sudoscan Only</title>
            <description>Patients in this arm will only undergoing testing with Sudoscan.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
          </group>
          <group group_id="O2">
            <title>Sudoscan Plus</title>
            <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.&#xD;
Skin biopsy: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).&#xD;
QSART: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
          </group>
        </group_list>
        <measure>
          <title>Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.</title>
          <description>Distribution of the electrochemical skin conductance (ESC) in both hands and feet was reviewed as an indirect measure of the subject's capacity to sweat. Normative scales of adult sweat function are preloaded in the device and compared to actual measurements to determine if a subject's sweat response is reduced, which is associated with neuropathy. A positive outcome is the identification of a lower ESC in either hands or feet that distinguishes Fabry disease from other disorders and would be a reflection of the presence of SFPN.</description>
          <units>Participants</units>
          <param>Count of Participants</param>
          <analyzed_list>
            <analyzed>
              <units>Participants</units>
              <scope>Measure</scope>
              <count_list>
                <count group_id="O1" value="65"/>
                <count group_id="O2" value="33"/>
              </count_list>
            </analyzed>
          </analyzed_list>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="21"/>
                    <measurement group_id="O2" value="16"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </outcome>
    </outcome_list>

    <reported_events>
      <time_frame>4 years</time_frame>
      <desc>This study did not include any intervention that would cause mortality or any serious adverse events.</desc>
      <group_list>
        <group group_id="E1">
          <title>Sudoscan Only</title>
          <description>Patients in this arm will only undergoing testing with Sudoscan.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.</description>
        </group>
        <group group_id="E2">
          <title>Sudoscan Plus</title>
          <description>Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.&#xD;
Sudoscan: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.&#xD;
Skin biopsy: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).&#xD;
QSART: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.</description>
        </group>
      </group_list>
      <serious_events>
        <category_list>
          <category>
            <title>Total</title>
            <event_list>
              <event>
                <sub_title>Total, all-cause mortality</sub_title>
                <counts group_id="E1" subjects_affected="0" subjects_at_risk="65"/>
                <counts group_id="E2" subjects_affected="0" subjects_at_risk="33"/>
              </event>
              <event>
                <sub_title>Total, serious adverse events</sub_title>
                <counts group_id="E1" subjects_affected="0" subjects_at_risk="65"/>
                <counts group_id="E2" subjects_affected="0" subjects_at_risk="33"/>
              </event>
            </event_list>
          </category>
        </category_list>
      </serious_events>
      <other_events>
        <frequency_threshold>0</frequency_threshold>
        <category_list>
          <category>
            <title>Total</title>
            <event_list>
              <event>
                <sub_title>Total, other adverse events</sub_title>
                <counts group_id="E1" subjects_affected="0" subjects_at_risk="65"/>
                <counts group_id="E2" subjects_affected="0" subjects_at_risk="33"/>
              </event>
            </event_list>
          </category>
        </category_list>
      </other_events>
    </reported_events>

    <certain_agreements>
      <pi_employee>Principal Investigators are NOT employed by the organization sponsoring the study.</pi_employee>
      <restrictive_agreement>The only disclosure restriction on the PI is that the sponsor can review results communications prior to public release and can embargo communications regarding trial results for a period that is less than or equal to 60 days. The sponsor cannot require changes to the communication and cannot extend the embargo.</restrictive_agreement>
    </certain_agreements>
    <point_of_contact>
      <name_or_title>PI</name_or_title>
      <organization>Massachusetts General Hospital</organization>
      <phone>6177260580</phone>
      <email>akaraa@mgh.harvard.edu</email>
    </point_of_contact>
  </clinical_results>
</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/NCT02985710
org study id: 2015P000205
nct id: NCT02985710
lead sponsor: 
has dmc: No
Sudoscan™ (Impeto Medical, Paris France) uses electrochemical skin conductance as a novel
      noninvasive method to detect sudomotor dysfunction. Several small studies have recently shown
      that Sudoscan use in the assessment of small fiber polyneuropathy (in diabetes mellitus) can
      be performed non-invasively, quickly and effectively. The investigators aim to study the use
      of Sudoscan in rare disease condition associated with small fiber polyneuropathy.
Small fiber polyneuropathy (SFPN) is diagnosed through a combination of symptoms, signs and
      confirmatory diagnostic testing. Nerve conduction studies are not sensitive enough in most of
      the cases leaving the ankle skin biopsy with measurement of intraepidermal nerve fiber
      density (IENFD) as the main diagnostic tool. Despite its utility and reproducibility, skin
      biopsy is invasive, expensive and requires a central laboratory for processing and
      interpretation. Quantitative sudomotor axon reflex testing (QSART) is also routinely used for
      evaluation of small fiber neuropathy as sudomotor axons can also be involved. This test
      however remains technically challenging and requires testing conditions in specialized labs
      that are not always suitable for all patients' population. By comparing findings on skin
      biopsy and/or QSRT, accepted gold standard for diagnosing SFPN, the investigators seek to
      find faster, less-invasive ways to diagnose and monitor small-fiber polyneuropathy in rare
      diseases using Sudoscan measurement.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Diagnostic
masking: None (Open Label)
measure: Number of Patients With Abnormal Electrochemical Skin Conductance in the Different Study Groups Who Have Clinical Symptoms Consistent With Small Fiber Polyneuropathy.
time frame: 12 months
description: The internal software of the Sudoscan will allow analysis of skin conductance in all patients and quantification into normal or abnormal. Correlation of an abnormal conductance measurement with clinical symptoms and signs of small fiber neuropathy will be evaluated for accuracy of Sudoscan measurements
measure: Number of Patients in Whom a Specific Skin Conductance (ESC) Signature Pattern Was Detected in the Hands and/or Feet on Sudoscan Measurements.
time frame: 48 months
description: Distribution of the electrochemical skin conductance (ESC) in both hands and feet was reviewed as an indirect measure of the subject's capacity to sweat. Normative scales of adult sweat function are preloaded in the device and compared to actual measurements to determine if a subject's sweat response is reduced, which is associated with neuropathy. A positive outcome is the identification of a lower ESC in either hands or feet that distinguishes Fabry disease from other disorders and would be a reflection of the presence of SFPN.
arm group label: Sudoscan only
arm group type: Other
description: Patients in this arm will only undergoing testing with Sudoscan.
arm group label: Sudoscan Plus
arm group type: Other
description: Patients in this arm will get Sudoscan testing as well as a skin biopsy and QSART testing.
intervention type: Device
intervention name: Sudoscan
description: The Sudoscan is a non invasive procedure and similar to standing on a scale to be weighed. Sudoscan measurements are made in compliance with the manufacturer's recommended procedures. The measurement is rapid and non-invasive, and requires no advance preparation.
arm group label: Sudoscan Plus
arm group label: Sudoscan only
intervention type: Procedure
intervention name: Skin biopsy
description: For subjects that give additional consent, skin biopsy will be done in standard fashion under sterile conditions. Assessment of nerve fiber density typically involves a 3-mm punch biopsy of skin from the leg (10 cm above the external malleolus).
arm group label: Sudoscan Plus
intervention type: Procedure
intervention name: QSART
description: QSRT (quantitative sudomotor axon reflex test) testing involves having a technician wipe the subject's arms and leg with alcohol, then tissue to wipe it dry. Electrodes filled with acetylcholine are put on three areas of the leg and one on the wrist, stimulators are turned on and sweat responses are measured.
arm group label: Sudoscan Plus
other name: Quantitative Sudomotor Autonomic Reflex Testing
criteria: 
gender: All
minimum age: 8 Years
maximum age: 70 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Amel Karaa, MD
role: Principal Investigator
affiliation: Massachusetts General Hospital
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: Massachusetts General Hospital
investigator full name: Amel Karaa
investigator title: MD
mesh term: Fabry Disease
mesh term: Small Fiber Neuropathy
mesh term: Ehlers-Danlos Syndrome
mesh term: Mitochondrial Diseases
mesh term: Rare Diseases
sharing ipd: No
ipd description: Scientific publication at the end of the study
provided document: 
participant flow: 
baseline: 
outcome list: 
reported events: 
certain agreements: 
point of contact: 