<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/NCT02191917</url>
  </required_header>
  <id_info>
    <org_study_id>701-201</org_study_id>
    <secondary_id>2014-002158-38</secondary_id>
    <nct_id>NCT02191917</nct_id>
  </id_info>
  <brief_title>A Study of Respiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD)</brief_title>
  <official_title>A Study of Respiratory Muscle Strength, Including Effort-Independent Measures, in Subjects With Late-Onset Pompe Disease</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>BioMarin Pharmaceutical</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Study 701-201 is a study in patients with late-onset Pompe disease (LOPD). The study will&#xD;
      test respiratory muscle strength initially and again after 24 weeks in subjects treated or&#xD;
      not treated with BMN 701 .&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Terminated</overall_status>
  <why_stopped>
    Study was terminated early due to a company decision not based on safety concerns&#xD;
  </why_stopped>
  <start_date type="Actual">October 21, 2014</start_date>
  <completion_date type="Actual">June 22, 2016</completion_date>
  <primary_completion_date type="Actual">June 22, 2016</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>Maximal Inspiratory Pressure (MIP)</measure>
    <time_frame>Baseline, Week 28</time_frame>
    <description>Pulmonary measure of change in maximal inspiratory pressure (MIP)</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Maximal Expiratory Pressure (MEP)</measure>
    <time_frame>Baseline, Week 28</time_frame>
    <description>Pulmonary measure of change in maximal expiratory pressure (MEP)</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">8</enrollment>
  <condition>Late-onset Pompe Disease</condition>
  <arm_group>
    <arm_group_label>Measurement of Respiratory Muscle Strength</arm_group_label>
  </arm_group>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Respiratory muscle strength measurements by different techniques.</intervention_name>
    <arm_group_label>Measurement of Respiratory Muscle Strength</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Fifteen subjects were planned for enrollment; there were no screening failures; 8 subjects&#xD;
        were enrolled. Two subjects were enrolled from 701-301 and the remaining 6 subjects&#xD;
        enrolled directly into 701-201 (no parent study)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Willing and able to provide written informed consent, after the nature of the study&#xD;
             has been explained, and prior to any study-related procedures&#xD;
&#xD;
          -  Documented diagnosis with late-onset Pompe disease - At least 18 years of age at study&#xD;
             entry&#xD;
&#xD;
          -  Willing and able to comply with all study procedures&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Requires ventilatory support while awake and in the upright position&#xD;
&#xD;
          -  Concurrent disease, medical condition, or extenuating circumstance that, in the&#xD;
             opinion of the investigator, might compromise patient well-being, study completion, or&#xD;
             data collection&#xD;
&#xD;
          -  Allergy to tools or procedures used for respiratory muscle testing&#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>Medical Monitor, MD</last_name>
    <role>Study Director</role>
    <affiliation>BioMarin Pharmaceutical</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of Florida</name>
      <address>
        <city>Gainesville</city>
        <state>Florida</state>
        <zip>32610</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Royal Brompton Hospital</name>
      <address>
        <city>London</city>
        <zip>SW36NP</zip>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>April 2022</verification_date>
  <study_first_submitted>July 15, 2014</study_first_submitted>
  <study_first_submitted_qc>July 15, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">July 16, 2014</study_first_posted>
  <results_first_submitted>June 22, 2017</results_first_submitted>
  <results_first_submitted_qc>April 11, 2022</results_first_submitted_qc>
  <results_first_posted type="Actual">January 9, 2023</results_first_posted>
  <last_update_submitted>April 11, 2022</last_update_submitted>
  <last_update_submitted_qc>April 11, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">January 9, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Glycogen Storage Disease Type II</mesh_term>
  </condition_browse>

  <clinical_results>

    <participant_flow>
      <group_list>
        <group group_id="P1">
          <title>Overall</title>
          <description>All enrolled subjects</description>
        </group>
      </group_list>
      <period_list>
        <period>
          <title>Overall Study</title>
          <milestone_list>
            <milestone>
              <title>STARTED</title>
              <participants_list>
                <participants group_id="P1" count="8"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="7"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>NOT COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="1"/>
              </participants_list>
            </milestone>
          </milestone_list>
        </period>
      </period_list>
    </participant_flow>

    <baseline>
      <group_list>
        <group group_id="B1">
          <title>Overall</title>
          <description>All subjects</description>
        </group>
      </group_list>
      <analyzed_list>
        <analyzed>
          <units>Participants</units>
          <scope>Overall</scope>
          <count_list>
            <count group_id="B1" value="8"/>
          </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="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Between 18 and 65 years</title>
                  <measurement_list>
                    <measurement group_id="B1" value="8"/>
                  </measurement_list>
                </category>
                <category>
                  <title>&gt;=65 years</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </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="2"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Male</title>
                  <measurement_list>
                    <measurement group_id="B1" value="6"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Ethnicity (NIH/OMB)</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <category_list>
                <category>
                  <title>Hispanic or Latino</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Not Hispanic or Latino</title>
                  <measurement_list>
                    <measurement group_id="B1" value="8"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Unknown or Not Reported</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
        <measure>
          <title>Race/Ethnicity, Customized</title>
          <units>Participants</units>
          <param>Count of Participants</param>
          <class_list>
            <class>
              <title>American Indian or Alaska Native</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Asian</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Native Hawaiian or Other Pacific Islander</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Black or African American</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>White</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="8"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Other</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" 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 Kingdom</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="7"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>United States</title>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="1"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </measure_list>
    </baseline>

    <outcome_list>
      <outcome>
        <type>Primary</type>
        <title>Maximal Inspiratory Pressure (MIP)</title>
        <description>Pulmonary measure of change in maximal inspiratory pressure (MIP)</description>
        <time_frame>Baseline, Week 28</time_frame>
        <population>Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.</population>
        <group_list>
          <group group_id="O1">
            <title>Overall</title>
            <description>All participants</description>
          </group>
        </group_list>
        <measure>
          <title>Maximal Inspiratory Pressure (MIP)</title>
          <description>Pulmonary measure of change in maximal inspiratory pressure (MIP)</description>
          <population>Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.</population>
          <units>cm H2O</units>
          <param>Mean</param>
          <dispersion>Standard Deviation</dispersion>
          <analyzed_list>
            <analyzed>
              <units>Participants</units>
              <scope>Measure</scope>
              <count_list>
                <count group_id="O1" value="8"/>
              </count_list>
            </analyzed>
          </analyzed_list>
          <class_list>
            <class>
              <title>Baseline</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="8"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="49.2" spread="21.7"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Last Visit</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="7"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="46.0" spread="20.93"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Change from Baseline</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="7"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="-5.5" spread="8.38"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </outcome>
      <outcome>
        <type>Secondary</type>
        <title>Maximal Expiratory Pressure (MEP)</title>
        <description>Pulmonary measure of change in maximal expiratory pressure (MEP)</description>
        <time_frame>Baseline, Week 28</time_frame>
        <population>Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.</population>
        <group_list>
          <group group_id="O1">
            <title>Overall</title>
            <description>All participants</description>
          </group>
        </group_list>
        <measure>
          <title>Maximal Expiratory Pressure (MEP)</title>
          <description>Pulmonary measure of change in maximal expiratory pressure (MEP)</description>
          <population>Full Analysis Set (FAS) population includes all enrolled subjects who have at least one study assessment.</population>
          <units>cm H2O</units>
          <param>Mean</param>
          <dispersion>Standard Deviation</dispersion>
          <analyzed_list>
            <analyzed>
              <units>Participants</units>
              <scope>Measure</scope>
              <count_list>
                <count group_id="O1" value="8"/>
              </count_list>
            </analyzed>
          </analyzed_list>
          <class_list>
            <class>
              <title>Baseline</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="8"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="77.1" spread="32.39"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Last Visit</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="7"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="69.0" spread="24.18"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
            <class>
              <title>Change from Baseline</title>
              <analyzed_list>
                <analyzed>
                  <units>Participants</units>
                  <scope>Class</scope>
                  <count_list>
                    <count group_id="O1" value="7"/>
                  </count_list>
                </analyzed>
              </analyzed_list>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value="-11.6" spread="11.35"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </outcome>
    </outcome_list>

    <reported_events>
      <time_frame>28 weeks</time_frame>
      <group_list>
        <group group_id="E1">
          <title>Overall</title>
          <description>Overall</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="8"/>
              </event>
              <event>
                <sub_title>Total, serious adverse events</sub_title>
                <counts group_id="E1" subjects_affected="0" subjects_at_risk="8"/>
              </event>
            </event_list>
          </category>
        </category_list>
      </serious_events>
      <other_events>
        <frequency_threshold>5</frequency_threshold>
        <default_vocab>MedDRA 19.0</default_vocab>
        <default_assessment>Systematic Assessment</default_assessment>
        <category_list>
          <category>
            <title>Total</title>
            <event_list>
              <event>
                <sub_title>Total, other adverse events</sub_title>
                <counts group_id="E1" subjects_affected="1" subjects_at_risk="8"/>
              </event>
            </event_list>
          </category>
          <category>
            <title>Injury, poisoning and procedural complications</title>
            <event_list>
              <event>
                <sub_title>Post procedural haemorrhage</sub_title>
                <counts group_id="E1" events="1" subjects_affected="1" subjects_at_risk="8"/>
              </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 more than 60 days but less than or equal to 180 days. The sponsor cannot require changes to the communication and cannot extend the embargo.</restrictive_agreement>
    </certain_agreements>
    <limitations_and_caveats>The study was planned to have 15 participants. However, the study was terminated prematurely. Only 8 participants were enrolled. Seven participants had last assessment at Days 146, 168, 172, 174, 179, 188, 196, translating to one participant at Week 20 and six participants Weeks 24-28.</limitations_and_caveats>
    <point_of_contact>
      <name_or_title>Trial Specialist</name_or_title>
      <organization>BioMarin Pharmacuetical Inc.</organization>
      <phone>1-800-983-4587</phone>
      <email>medinfo@bmrn.com</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/NCT02191917
org study id: 701-201
secondary id: 2014-002158-38
nct id: NCT02191917
lead sponsor: 
has dmc: No
Study 701-201 is a study in patients with late-onset Pompe disease (LOPD). The study will
      test respiratory muscle strength initially and again after 24 weeks in subjects treated or
      not treated with BMN 701 .
observational model: Cohort
time perspective: Prospective
measure: Maximal Inspiratory Pressure (MIP)
time frame: Baseline, Week 28
description: Pulmonary measure of change in maximal inspiratory pressure (MIP)
measure: Maximal Expiratory Pressure (MEP)
time frame: Baseline, Week 28
description: Pulmonary measure of change in maximal expiratory pressure (MEP)
arm group label: Measurement of Respiratory Muscle Strength
intervention type: Procedure
intervention name: Respiratory muscle strength measurements by different techniques.
arm group label: Measurement of Respiratory Muscle Strength
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Medical Monitor, MD
role: Study Director
affiliation: BioMarin Pharmaceutical
facility: 
facility: 
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Glycogen Storage Disease Type II
participant flow: 
baseline: 
outcome list: 
reported events: 
certain agreements: 
limitations and caveats: The study was planned to have 15 participants. However, the study was terminated prematurely. Only 8 participants were enrolled. Seven participants had last assessment at Days 146, 168, 172, 174, 179, 188, 196, translating to one participant at Week 20 and six participants Weeks 24-28.
point of contact: 