<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/NCT03256968</url>
  </required_header>
  <id_info>
    <org_study_id>F160106006</org_study_id>
    <nct_id>NCT03256968</nct_id>
  </id_info>
  <brief_title>PTC Study to Evaluate Ataluren in Combination With Ivacaftor</brief_title>
  <official_title>An Open Label N of 1 Study to Evaluate the Study and Efficacy of Long-Term Treatment With Ivacaftor in Combination With Ataluren (PTC124) in Subjects With Nonsense Mutation Cystic Fibrosis</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University of Alabama at Birmingham</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University of Alabama at Birmingham</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>Yes</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
    <is_us_export>No</is_us_export>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to explore the combination of ataluren and ivacaftor as a&#xD;
      treatment for patients with nonsense mutation cystic fibrosis&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      Cystic Fibrosis (CF) is a life threatening genetic disorder resulting from mutations found in&#xD;
      the CF gene known as the cystic fibrosis transmembrane conductance regulator or CFTR. This&#xD;
      defect prevents correct chloride absorption in and out of the cells The purpose of this study&#xD;
      is to explore the combination of ataluren and ivacaftor as a treatment for patients with a&#xD;
      specific cystic fibrosis mutation&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">January 27, 2017</start_date>
  <completion_date type="Actual">December 31, 2018</completion_date>
  <primary_completion_date type="Actual">December 1, 2018</primary_completion_date>
  <phase>Phase 4</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>N/A</allocation>
    <intervention_model>Single Group Assignment</intervention_model>
    <primary_purpose>Treatment</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>FEV1 as a Measure of Lung Function</measure>
    <time_frame>1 year</time_frame>
    <description>effect of ataluren on lung function as assessed by spirometry and measured by percentage of Liters (minimum value would be .0% Liters and maximum value of liters is dependent from person to person). The higher the value the better the outcome. The measure will include the change from baseline to one year to report a change between the two measurement points</description>
  </primary_outcome>
  <number_of_arms>1</number_of_arms>
  <enrollment type="Actual">1</enrollment>
  <condition>Cystic Fibrosis</condition>
  <arm_group>
    <arm_group_label>ataluren administration</arm_group_label>
    <arm_group_type>Experimental</arm_group_type>
    <description>dose of the drug administered (mg/kg body weight)</description>
  </arm_group>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Ataluren</intervention_name>
    <description>ataluren</description>
    <arm_group_label>ataluren administration</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          1. Evidence of signed and dated informed consent/assent document(s) indicating that the&#xD;
             subject (and/or his parent/legal guardian) has been informed of all pertinent aspects&#xD;
             of the trial.&#xD;
&#xD;
          2. Age ≥6 years&#xD;
&#xD;
          3. Body weight ≥16 kg&#xD;
&#xD;
          4. Diagnosis of cystic fibrosis and documentation of the presence of a nonsense mutations&#xD;
             of the CFTR gene, as determined by historical genotyping&#xD;
&#xD;
          5. Ability to perform a valid, reproducible spirometry with demonstration of a forced&#xD;
             expiratory volume in 1second (FEV1) ≥30% and ≤90% of predicted for age, gender, and&#xD;
             height.&#xD;
&#xD;
          6. If the subject is sexually active, willingness to abstain from sexual intercourse or&#xD;
             employ a barrier or medical method of contraception during the study drug&#xD;
             administration&#xD;
&#xD;
          7. Willingness and ability to comply with all study procedures and assessments.&#xD;
&#xD;
          8. Currently being administered ivacaftor, either alone (Kalydeco) or in combination with&#xD;
             lumacaftor (Orkambi)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          1. Any change (initiation, change in type of drug, dose modification, schedule&#xD;
             modification, interruption, discontinuation, or re-initiation) in a chronic&#xD;
             treatment/prophylaxis regimen for CF or for CF-related conditions within 2 weeks prior&#xD;
             to screening.&#xD;
&#xD;
          2. Ongoing participation in any other therapeutic clinical trial.&#xD;
&#xD;
          3. Evidence of pulmonary exacerbation or acute upper or lower respiratory tract infection&#xD;
             (including viral illnesses) within 2 weeks prior to screening.&#xD;
&#xD;
          4. Ongoing inhaled tobramycin therapy.&#xD;
&#xD;
          5. Ongoing immunosuppressive therapy (other than corticosteroids up to 10mg/d equivalent&#xD;
             of prednisone)&#xD;
&#xD;
          6. Ongoing warfarin, phenytoin, or tolbutamide therapy.&#xD;
&#xD;
          7. History of solid organ or hematological transplantation.&#xD;
&#xD;
          8. A history of positive hepatitis B surface antigen test, hepatitis C antibody test, or&#xD;
             human immunodeficiency&#xD;
&#xD;
          9. Major complications of lung disease (including massive hemoptysis, pneumothorax, or&#xD;
             pleural effusion) within 4 weeks prior to screening.&#xD;
&#xD;
         10. Pregnancy or breast-feeding.&#xD;
&#xD;
         11. Current smoker or a smoking history of ≥10 pack-years (number of cigarette packs/day ×&#xD;
             number of years smoked).&#xD;
&#xD;
         12. Prior or ongoing medical condition (eg, renal failure, alcoholism, drug abuse,&#xD;
             psychiatric condition), medical history, physical findings, ECG findings, or&#xD;
             laboratory abnormality that, in the investigator's opinion, could adversely affect the&#xD;
             safety of the subject, makes it unlikely that the course of treatment or follow-up&#xD;
             would be completed, or could impair the assessment of study results.&#xD;
&#xD;
             -&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>6 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Steven M Rowe, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University of Alabama at Birmingham</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>University of Alabama at Birmingham</name>
      <address>
        <city>Birmingham</city>
        <state>Alabama</state>
        <zip>35233</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>March 2020</verification_date>
  <study_first_submitted>August 18, 2017</study_first_submitted>
  <study_first_submitted_qc>August 18, 2017</study_first_submitted_qc>
  <study_first_posted type="Actual">August 22, 2017</study_first_posted>
  <results_first_submitted>December 13, 2019</results_first_submitted>
  <results_first_submitted_qc>March 25, 2020</results_first_submitted_qc>
  <results_first_posted type="Actual">March 26, 2020</results_first_posted>
  <last_update_submitted>March 25, 2020</last_update_submitted>
  <last_update_submitted_qc>March 25, 2020</last_update_submitted_qc>
  <last_update_posted type="Actual">March 26, 2020</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University of Alabama at Birmingham</investigator_affiliation>
    <investigator_full_name>Steven M Rowe</investigator_full_name>
    <investigator_title>Principal Investigator</investigator_title>
  </responsible_party>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Cystic Fibrosis</mesh_term>
    <mesh_term>Fibrosis</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </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>December 11, 2018</document_date>
      <document_url>https://ClinicalTrials.gov/ProvidedDocs/68/NCT03256968/Prot_SAP_000.pdf</document_url>
    </provided_document>
  </provided_document_section>

  <clinical_results>

    <participant_flow>
      <group_list>
        <group group_id="P1">
          <title>Ataluren Administration</title>
          <description>dose of the drug administered (mg/kg body weight)&#xD;
Ataluren: ataluren</description>
        </group>
      </group_list>
      <period_list>
        <period>
          <title>Overall Study</title>
          <milestone_list>
            <milestone>
              <title>STARTED</title>
              <participants_list>
                <participants group_id="P1" count="1"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="1"/>
              </participants_list>
            </milestone>
            <milestone>
              <title>NOT COMPLETED</title>
              <participants_list>
                <participants group_id="P1" count="0"/>
              </participants_list>
            </milestone>
          </milestone_list>
        </period>
      </period_list>
    </participant_flow>

    <baseline>
      <group_list>
        <group group_id="B1">
          <title>Ataluren Administration</title>
          <description>dose of the drug administered (mg/kg body weight)&#xD;
Ataluren: ataluren</description>
        </group>
      </group_list>
      <analyzed_list>
        <analyzed>
          <units>Participants</units>
          <scope>Overall</scope>
          <count_list>
            <count group_id="B1" value="1"/>
          </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="1"/>
                  </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>Age</title>
          <units>years</units>
          <param>Mean</param>
          <dispersion>Inter-Quartile Range</dispersion>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="B1" value="31" lower_limit="31" upper_limit="31"/>
                  </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="1"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Male</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </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_list>
                </category>
                <category>
                  <title>Asian</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Native Hawaiian or Other Pacific Islander</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>Black or African American</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </measurement_list>
                </category>
                <category>
                  <title>White</title>
                  <measurement_list>
                    <measurement group_id="B1" value="1"/>
                  </measurement_list>
                </category>
                <category>
                  <title>More than one race</title>
                  <measurement_list>
                    <measurement group_id="B1" value="0"/>
                  </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>Region of Enrollment</title>
          <units>participants</units>
          <param>Number</param>
          <class_list>
            <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>FEV1 as a Measure of Lung Function</title>
        <description>effect of ataluren on lung function as assessed by spirometry and measured by percentage of Liters (minimum value would be .0% Liters and maximum value of liters is dependent from person to person). The higher the value the better the outcome. The measure will include the change from baseline to one year to report a change between the two measurement points</description>
        <time_frame>1 year</time_frame>
        <group_list>
          <group group_id="O1">
            <title>Ataluren Administration</title>
            <description>dose of the drug administered (mg/kg body weight)&#xD;
Ataluren: ataluren</description>
          </group>
        </group_list>
        <measure>
          <title>FEV1 as a Measure of Lung Function</title>
          <description>effect of ataluren on lung function as assessed by spirometry and measured by percentage of Liters (minimum value would be .0% Liters and maximum value of liters is dependent from person to person). The higher the value the better the outcome. The measure will include the change from baseline to one year to report a change between the two measurement points</description>
          <units>percentage of liters</units>
          <param>Number</param>
          <analyzed_list>
            <analyzed>
              <units>Participants</units>
              <scope>Measure</scope>
              <count_list>
                <count group_id="O1" value="1"/>
              </count_list>
            </analyzed>
          </analyzed_list>
          <class_list>
            <class>
              <category_list>
                <category>
                  <measurement_list>
                    <measurement group_id="O1" value=".35"/>
                  </measurement_list>
                </category>
              </category_list>
            </class>
          </class_list>
        </measure>
      </outcome>
    </outcome_list>

    <reported_events>
      <time_frame>1 year</time_frame>
      <group_list>
        <group group_id="E1">
          <title>Ataluren Administration</title>
          <description>dose of the drug administered (mg/kg body weight)&#xD;
Ataluren: ataluren</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="1"/>
              </event>
              <event>
                <sub_title>Total, serious adverse events</sub_title>
                <counts group_id="E1" subjects_affected="0" subjects_at_risk="1"/>
              </event>
            </event_list>
          </category>
        </category_list>
      </serious_events>
      <other_events>
        <frequency_threshold>5</frequency_threshold>
        <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="1"/>
              </event>
            </event_list>
          </category>
          <category>
            <title>Respiratory, thoracic and mediastinal disorders</title>
            <event_list>
              <event>
                <sub_title>increased cough</sub_title>
                <counts group_id="E1" events="1" subjects_affected="1" subjects_at_risk="1"/>
              </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>There is NOT an agreement between Principal Investigators and the Sponsor (or its agents) that restricts the PI's rights to discuss or publish trial results after the trial is completed. </restrictive_agreement>
    </certain_agreements>
    <point_of_contact>
      <name_or_title>Steven Rowe</name_or_title>
      <organization>Universtiy of Alabama at Birmingham</organization>
      <phone>205-975-9776</phone>
      <email>srowe@uabmc.edi</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/NCT03256968
org study id: F160106006
nct id: NCT03256968
lead sponsor: 
has dmc: No
is fda regulated drug: Yes
is fda regulated device: No
is us export: No
The purpose of this study is to explore the combination of ataluren and ivacaftor as a
      treatment for patients with nonsense mutation cystic fibrosis
Cystic Fibrosis (CF) is a life threatening genetic disorder resulting from mutations found in
      the CF gene known as the cystic fibrosis transmembrane conductance regulator or CFTR. This
      defect prevents correct chloride absorption in and out of the cells The purpose of this study
      is to explore the combination of ataluren and ivacaftor as a treatment for patients with a
      specific cystic fibrosis mutation
allocation: N/A
intervention model: Single Group Assignment
primary purpose: Treatment
masking: None (Open Label)
measure: FEV1 as a Measure of Lung Function
time frame: 1 year
description: effect of ataluren on lung function as assessed by spirometry and measured by percentage of Liters (minimum value would be .0% Liters and maximum value of liters is dependent from person to person). The higher the value the better the outcome. The measure will include the change from baseline to one year to report a change between the two measurement points
arm group label: ataluren administration
arm group type: Experimental
description: dose of the drug administered (mg/kg body weight)
intervention type: Drug
intervention name: Ataluren
description: ataluren
arm group label: ataluren administration
criteria: 
gender: All
minimum age: 6 Years
maximum age: N/A
healthy volunteers: No
last name: Steven M Rowe, MD
role: Principal Investigator
affiliation: University of Alabama at Birmingham
facility: 
country: United States
responsible party type: Principal Investigator
investigator affiliation: University of Alabama at Birmingham
investigator full name: Steven M Rowe
investigator title: Principal Investigator
mesh term: Cystic Fibrosis
mesh term: Fibrosis
sharing ipd: No
provided document: 
participant flow: 
baseline: 
outcome list: 
reported events: 
certain agreements: 
point of contact: 