<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/NCT04452513</url>
  </required_header>
  <id_info>
    <org_study_id>307-902</org_study_id>
    <nct_id>NCT04452513</nct_id>
  </id_info>
  <brief_title>A Prospective Clinical Study of Phenylketonuria (PKU)</brief_title>
  <official_title>A Prospective Clinical Study of Phenylketonuria (PKU)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>BioMarin Pharmaceutical</source>
  <oversight_info>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with&#xD;
      uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by&#xD;
      BioMarin in this study.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">October 11, 2019</start_date>
  <completion_date type="Actual">June 2, 2022</completion_date>
  <primary_completion_date type="Actual">June 2, 2022</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>Change in Plasma Phe Levels</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
  </primary_outcome>
  <secondary_outcome>
    <measure>Change in dietary protein intake from medical and intact food</measure>
    <time_frame>through study completion, an average of 2 years</time_frame>
  </secondary_outcome>
  <enrollment type="Actual">32</enrollment>
  <condition>Phenylketonurias</condition>
  <eligibility>
    <study_pop>
      <textblock>
        PKU Patients 14 years or older with uncontrolled plasma Phe levels&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Male and female subjects with diagnosis of PKU which is a condition characterized by&#xD;
             PAH deficiency&#xD;
&#xD;
          -  Ability and willingness to maintain dietary protein intake consistent with baseline&#xD;
             intake&#xD;
&#xD;
          -  Willingness and capable per investigator opinion to comply with study procedures and&#xD;
             requirements&#xD;
&#xD;
          -  Plasma Phe Levels &gt; 600umol/L&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Clinically significant liver dysfunction or disease&#xD;
&#xD;
          -  Prior treatment with gene therapy&#xD;
&#xD;
          -  Any condition that, in the opinion of the investigator or Sponsor, would prevent the&#xD;
             subject from fully complying with the requirements of the study&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>14 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <location>
    <facility>
      <name>Children's Hosptial of Colorado</name>
      <address>
        <city>Aurora</city>
        <state>Colorado</state>
        <zip>80045</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Florida</name>
      <address>
        <city>Gainesville</city>
        <state>Florida</state>
        <zip>32605</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of South Florida</name>
      <address>
        <city>Tampa</city>
        <state>Florida</state>
        <zip>33606</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Emory University Hospital</name>
      <address>
        <city>Atlanta</city>
        <state>Georgia</state>
        <zip>30322</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Ann &amp; Robert H. Lurie Chilren's Hospital</name>
      <address>
        <city>Chicago</city>
        <state>Illinois</state>
        <zip>60611</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Riley Hospital for Children</name>
      <address>
        <city>Indianapolis</city>
        <state>Indiana</state>
        <zip>46202</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Kentucky</name>
      <address>
        <city>Lexington</city>
        <state>Kentucky</state>
        <zip>40536-0293</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Boston Children's Hospital</name>
      <address>
        <city>Boston</city>
        <state>Massachusetts</state>
        <zip>02115</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Morristown Medical Center</name>
      <address>
        <city>Morristown</city>
        <state>New Jersey</state>
        <zip>07960</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Oregon Health &amp; Science University</name>
      <address>
        <city>Portland</city>
        <state>Oregon</state>
        <zip>97239</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>UPMC Children's Hospital of Pittsburgh</name>
      <address>
        <city>Pittsburgh</city>
        <state>Pennsylvania</state>
        <zip>15224</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Clinic for Special Children</name>
      <address>
        <city>Strasburg</city>
        <state>Pennsylvania</state>
        <zip>17579</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>University of Texas Health Science Center at Houston</name>
      <address>
        <city>Houston</city>
        <state>Texas</state>
        <zip>77030</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location>
    <facility>
      <name>Medical College of Wisconsin</name>
      <address>
        <city>Wauwatosa</city>
        <state>Wisconsin</state>
        <zip>53226</zip>
        <country>United States</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>United States</country>
  </location_countries>
  <verification_date>September 2022</verification_date>
  <study_first_submitted>June 26, 2020</study_first_submitted>
  <study_first_submitted_qc>June 26, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 30, 2020</study_first_posted>
  <last_update_submitted>March 13, 2023</last_update_submitted>
  <last_update_submitted_qc>March 13, 2023</last_update_submitted_qc>
  <last_update_posted type="Actual">March 14, 2023</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>PKU</keyword>
  <keyword>Phenylketonuria</keyword>
  <keyword>PAH Deficiency</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Phenylketonurias</mesh_term>
  </condition_browse>
  <!-- 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/NCT04452513
org study id: 307-902
nct id: NCT04452513
lead sponsor: 
is fda regulated drug: No
is fda regulated device: No
This is a study for adults and children ≥ 14 years old who have Phenylketonuria (PKU) with
      uncontrolled plasma Phe levels. No clinical intervention or study drug is provided by
      BioMarin in this study.
observational model: Cohort
time perspective: Prospective
measure: Change in Plasma Phe Levels
time frame: through study completion, an average of 2 years
measure: Change in dietary protein intake from medical and intact food
time frame: through study completion, an average of 2 years
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 14 Years
maximum age: N/A
healthy volunteers: No
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
facility: 
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facility: 
country: United States
responsible party type: Sponsor
mesh term: Phenylketonurias