<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/NCT02240784</url>
  </required_header>
  <id_info>
    <org_study_id>ALN-AS1-NT-001</org_study_id>
    <nct_id>NCT02240784</nct_id>
  </id_info>
  <brief_title>EXPLORE: A Natural History Study of Acute Hepatic Porphyria (AHP)</brief_title>
  <official_title>A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Alnylam Pharmaceuticals</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>Alnylam Pharmaceuticals</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      The purpose of this study is to characterize the natural history and clinical management of&#xD;
      Acute Hepatic Porphyria (AHP) patients with recurring attacks.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">August 2014</start_date>
  <completion_date type="Actual">April 26, 2021</completion_date>
  <primary_completion_date type="Actual">April 26, 2021</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>Medical history of AHP patients (Part A only)</measure>
    <time_frame>Baseline to 6-Month Follow-Up Visit</time_frame>
  </primary_outcome>
  <primary_outcome>
    <measure>Medication usage of AHP patients (Part A only)</measure>
    <time_frame>Baseline to 6-Month Follow-Up Visit</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Plasma biomarkers (Part A only)</measure>
    <time_frame>0, 6 months and During Attacks</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Porphyria signs and symptoms (Part A only)</measure>
    <time_frame>0, 2, 4, 6 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Quality of Life (Part A only)</measure>
    <time_frame>0, 6 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Urine biomarkers (Part A only)</measure>
    <time_frame>0, 6 months and During Attacks</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Healthcare Utilization (Part A only)</measure>
    <time_frame>0, 6 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in disease activity as measured by Quality of Life (Part B only)</measure>
    <time_frame>0, 6, 12, 18, 24, 30, 36 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in disease activity as measured by Porphyria Screening/Follow Up Questionnaire (Part B only)</measure>
    <time_frame>0, 3, 6, 9, 12, 18, 24, 30, 36 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in disease activity as measured by Brief Pain Inventory form (Part B only)</measure>
    <time_frame>0, 3, 6, 9, 12, 18, 24, 30, 36 months</time_frame>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Change in disease activity as measured by European Organization for Research and Treatment of Cancer (EORTC) Questionnaire (Part B only)</measure>
    <time_frame>0, 6, 12, 18, 24, 30, 36 months</time_frame>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Actual">136</enrollment>
  <condition>Acute Hepatic Porphyria</condition>
  <arm_group>
    <arm_group_label>Acute Hepatic Porphyria</arm_group_label>
  </arm_group>
  <biospec_retention>Samples Without DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Urine and plasma samples for known proteins associated with porphyria attacks.&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Acute Hepatic Porphyria&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Males and females aged &gt;/= 12 years&#xD;
&#xD;
          -  Diagnosis of AHP [acute intermittent porphyria (AIP), variegate porphyria (VP),&#xD;
             hereditary coproporphyria (HCP) and aminolevulinic acid dehydratase (ALAD) deficient&#xD;
             porphyria (ADP)]&#xD;
&#xD;
          -  Porphyria attacks in the past 12 months or receiving treatment to prevent attacks&#xD;
&#xD;
          -  Willing to provide written informed consent, medical records, and to comply with study&#xD;
             requirements&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        • Current participation in a clinical trial of an investigational product&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>12 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Medical Director</last_name>
    <role>Study Director</role>
    <affiliation>Alnylam Pharmaceuticals</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>San Francisco</city>
        <state>California</state>
        <zip>94143</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Miami</city>
        <state>Florida</state>
        <zip>33136</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Ann Arbor</city>
        <state>Michigan</state>
        <zip>48109</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>New York</city>
        <state>New York</state>
        <zip>10029</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Winston-Salem</city>
        <state>North Carolina</state>
        <zip>27157</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Philadelphia</city>
        <state>Pennsylvania</state>
        <zip>19107</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Galveston</city>
        <state>Texas</state>
        <zip>77555</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Salt Lake City</city>
        <state>Utah</state>
        <zip>84112</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Camperdown</city>
        <state>New South Wales</state>
        <country>Australia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Leuven</city>
        <country>Belgium</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Sofia</city>
        <country>Bulgaria</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Prague</city>
        <country>Czechia</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Helsinki</city>
        <country>Finland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Paris</city>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Chemnitz</city>
        <country>Germany</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Petach Tikva</city>
        <country>Israel</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Milano</city>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Modena</city>
        <country>Italy</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Seoul</city>
        <country>Korea, Republic of</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Mexico City</city>
        <country>Mexico</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Rotterdam</city>
        <country>Netherlands</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Bergen</city>
        <country>Norway</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Warsaw</city>
        <country>Poland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Cape Town</city>
        <country>South Africa</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Barcelona</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Murcia</city>
        <country>Spain</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Zurich</city>
        <country>Switzerland</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Taipei City</city>
        <country>Taiwan</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>Cardiff</city>
        <state>Wales</state>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinical Trial Site</name>
      <address>
        <city>London</city>
        <country>United Kingdom</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Australia</country>
    <country>Belgium</country>
    <country>Bulgaria</country>
    <country>Czechia</country>
    <country>Finland</country>
    <country>France</country>
    <country>Germany</country>
    <country>Israel</country>
    <country>Italy</country>
    <country>Korea, Republic of</country>
    <country>Mexico</country>
    <country>Netherlands</country>
    <country>Norway</country>
    <country>Poland</country>
    <country>South Africa</country>
    <country>Spain</country>
    <country>Switzerland</country>
    <country>Taiwan</country>
    <country>United Kingdom</country>
    <country>United States</country>
  </location_countries>
  <verification_date>May 2021</verification_date>
  <study_first_submitted>September 11, 2014</study_first_submitted>
  <study_first_submitted_qc>September 12, 2014</study_first_submitted_qc>
  <study_first_posted type="Estimate">September 16, 2014</study_first_posted>
  <last_update_submitted>May 14, 2021</last_update_submitted>
  <last_update_submitted_qc>May 14, 2021</last_update_submitted_qc>
  <last_update_posted type="Actual">May 17, 2021</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Porphyria</keyword>
  <keyword>AIP</keyword>
  <keyword>VP</keyword>
  <keyword>HCP</keyword>
  <keyword>Variegate</keyword>
  <keyword>Coproporphyria</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Porphyrias, Hepatic</mesh_term>
    <mesh_term>Coproporphyria, Hereditary</mesh_term>
    <mesh_term>Porphyria, Erythropoietic</mesh_term>
    <mesh_term>Porphyrias</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>No</sharing_ipd>
  </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/NCT02240784
org study id: ALN-AS1-NT-001
nct id: NCT02240784
lead sponsor: 
has dmc: No
The purpose of this study is to characterize the natural history and clinical management of
      Acute Hepatic Porphyria (AHP) patients with recurring attacks.
observational model: Cohort
time perspective: Prospective
measure: Medical history of AHP patients (Part A only)
time frame: Baseline to 6-Month Follow-Up Visit
measure: Medication usage of AHP patients (Part A only)
time frame: Baseline to 6-Month Follow-Up Visit
measure: Plasma biomarkers (Part A only)
time frame: 0, 6 months and During Attacks
measure: Porphyria signs and symptoms (Part A only)
time frame: 0, 2, 4, 6 months
measure: Quality of Life (Part A only)
time frame: 0, 6 months
measure: Urine biomarkers (Part A only)
time frame: 0, 6 months and During Attacks
measure: Healthcare Utilization (Part A only)
time frame: 0, 6 months
measure: Change in disease activity as measured by Quality of Life (Part B only)
time frame: 0, 6, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by Porphyria Screening/Follow Up Questionnaire (Part B only)
time frame: 0, 3, 6, 9, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by Brief Pain Inventory form (Part B only)
time frame: 0, 3, 6, 9, 12, 18, 24, 30, 36 months
measure: Change in disease activity as measured by European Organization for Research and Treatment of Cancer (EORTC) Questionnaire (Part B only)
time frame: 0, 6, 12, 18, 24, 30, 36 months
arm group label: Acute Hepatic Porphyria
Urine and plasma samples for known proteins associated with porphyria attacks.
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 12 Years
maximum age: N/A
healthy volunteers: No
last name: Medical Director
role: Study Director
affiliation: Alnylam Pharmaceuticals
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country: Australia
country: Belgium
country: Bulgaria
country: Czechia
country: Finland
country: France
country: Germany
country: Israel
country: Italy
country: Korea, Republic of
country: Mexico
country: Netherlands
country: Norway
country: Poland
country: South Africa
country: Spain
country: Switzerland
country: Taiwan
country: United Kingdom
country: United States
responsible party type: Sponsor
mesh term: Porphyrias, Hepatic
mesh term: Coproporphyria, Hereditary
mesh term: Porphyria, Erythropoietic
mesh term: Porphyrias
sharing ipd: No