<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/NCT04433728</url>
  </required_header>
  <id_info>
    <org_study_id>2019_28</org_study_id>
    <secondary_id>2020-A00437-32</secondary_id>
    <nct_id>NCT04433728</nct_id>
  </id_info>
  <brief_title>Life With Phenylketonuria. Adult Neurological Outcome of PCU Screened Patients From 1971 to 2002.</brief_title>
  <acronym>PCU</acronym>
  <official_title>Becoming Adulthood of Phenylketonuric Patients Screened in the Neonatal Period: From 1971 to the Present Day.</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Lille</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Lille</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
    <is_fda_regulated_drug>No</is_fda_regulated_drug>
    <is_fda_regulated_device>No</is_fda_regulated_device>
  </oversight_info>
  <brief_summary>
    <textblock>
      You were detected during the neonatal period for phenylketonuria and you benefited from the&#xD;
      diagnosis of an adapted dietetic care, and this for a variable duration according to the&#xD;
      recommendations followed at that time.&#xD;
&#xD;
      The recommendations for the management of phenylketonuria have evolved considerably over&#xD;
      time, lengthening the duration, rigor of the diet and target rates. However, few studies have&#xD;
      been able to determinate the influence of metabolic balance and pediatric management on fate&#xD;
      in adulthood. As you know, the current recommendations are more stringent and prolonged,&#xD;
      without taking into account the pediatric data of today's adult patients.&#xD;
&#xD;
      The objective of this study, which is aimed at all adult patients screened and followed by&#xD;
      Lille University Hospital, according to the same care methods, allowing a homogeneous&#xD;
      monitoring of patients, is to assess the influence of pediatric care (duration of the diet,&#xD;
      metabolic balance, compliance) on the future in adulthood. This retrospective and current&#xD;
      analysis work could help refine the current recommendations.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Not yet recruiting</overall_status>
  <start_date type="Anticipated">September 2022</start_date>
  <completion_date type="Anticipated">September 2024</completion_date>
  <primary_completion_date type="Anticipated">September 2024</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>Adult intelligence quotient (IQ) score</measure>
    <time_frame>Baseline</time_frame>
    <description>Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.</measure>
    <time_frame>Baseline, at the last time of decline (= 8 years of low-protein diet)</time_frame>
    <description>The IQ score in adulthood assessed at the last time of decline according to the two subgroups treated during 8 years, defined by the target Phenylalanine level ((2-5 mg/dl versus 8-12 mg/dl)</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)</measure>
    <time_frame>Baseline,at the last time of decline (= 10 years of low-protein diet)</time_frame>
    <description>The IQ score in adulthood assessed according to length (and degree) of expanding the Diet (increasing Phe intake, during 6 months whatever the Phe levels or longer according the Phe levels) during childhood for children treated during 10 years (xith target Phe level 2-5 mg/dl)</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood</measure>
    <time_frame>Baseline</time_frame>
    <description>The IQ score in adulthood assessed at the last time of decline according to the metabolic parameters during childhood</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>The IQ score in adulthood assessed according to the first phenylalanine level in the target (&lt; 5 mg/dl)</measure>
    <time_frame>baseline</time_frame>
    <description>The IQ score in adulthood assessed according to the first phenylalanine level in the target (&lt; 5 mg/dl) in the neonatal period</description>
  </secondary_outcome>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">138</enrollment>
  <condition>Phenylketonurias</condition>
  <arm_group>
    <arm_group_label>Adults Phenylketonuric</arm_group_label>
    <description>Adults patients screened in neonatal period for PKU and treated</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Plasma and dried blood on blotter (dried blood spot) for Phe Rate Whole blood on EDTA for&#xD;
      genetics&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        All adult patients screened in Nord Pas de Calais for PKU in the neonatal period since 1971&#xD;
        and treated with a diet and / or drug treatment&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Patients with classic or atypical phenylketonuria detected in the neonatal period&#xD;
             since 1971 in the department of Nord (59) and Pas de Calais (62).&#xD;
&#xD;
          -  Patients treated&#xD;
&#xD;
          -  Able to receive information&#xD;
&#xD;
          -  Patient beneficiary or affiliated to a social security&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Patients not screened (born outside French territory) or before 1971.&#xD;
&#xD;
          -  Untreated screened patients&#xD;
&#xD;
          -  Patients screened for persistent benign hyperphenylalaninaemia not treated with a diet&#xD;
             (Phenylalanine level &lt;10 mg / dl or 600 µmol / l without diet to be confirmed)&#xD;
&#xD;
          -  Associated confirmed neurological pathology other than a complication of&#xD;
             phenylketonuria.&#xD;
&#xD;
          -  Refusal to participate in the assessment of Intellectual Quotient in adulthood&#xD;
&#xD;
          -  Patient screened, lost to follow-up, found, having moved to another region and not&#xD;
             wishing to return to the CHU for follow-up.&#xD;
&#xD;
          -  Inability to receive information and or express opposition&#xD;
&#xD;
          -  Opposition to participation in the study&#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>Karine MENTION, MD,PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital, Lille</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>Karine MENTION, MD,PhD</last_name>
    <phone>0320444149</phone>
    <phone_ext>+33</phone_ext>
    <email>karine.mention@chru-lille.fr</email>
  </overall_contact>
  <verification_date>March 2022</verification_date>
  <study_first_submitted>May 15, 2020</study_first_submitted>
  <study_first_submitted_qc>June 15, 2020</study_first_submitted_qc>
  <study_first_posted type="Actual">June 16, 2020</study_first_posted>
  <last_update_submitted>March 14, 2022</last_update_submitted>
  <last_update_submitted_qc>March 14, 2022</last_update_submitted_qc>
  <last_update_posted type="Actual">March 17, 2022</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Becoming neurological in adulthood</keyword>
  <keyword>Metabolic balance during childhood</keyword>
  <keyword>Duration and compliance with the low-protein diet</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/NCT04433728
org study id: 2019_28
secondary id: 2020-A00437-32
nct id: NCT04433728
lead sponsor: 
has dmc: No
is fda regulated drug: No
is fda regulated device: No
You were detected during the neonatal period for phenylketonuria and you benefited from the
      diagnosis of an adapted dietetic care, and this for a variable duration according to the
      recommendations followed at that time.

      The recommendations for the management of phenylketonuria have evolved considerably over
      time, lengthening the duration, rigor of the diet and target rates. However, few studies have
      been able to determinate the influence of metabolic balance and pediatric management on fate
      in adulthood. As you know, the current recommendations are more stringent and prolonged,
      without taking into account the pediatric data of today's adult patients.

      The objective of this study, which is aimed at all adult patients screened and followed by
      Lille University Hospital, according to the same care methods, allowing a homogeneous
      monitoring of patients, is to assess the influence of pediatric care (duration of the diet,
      metabolic balance, compliance) on the future in adulthood. This retrospective and current
      analysis work could help refine the current recommendations.
observational model: Cohort
time perspective: Prospective
measure: Adult intelligence quotient (IQ) score
time frame: Baseline
description: Adult intelligence quotient (IQ) score assessed at the last setback in the two groups defined by the duration of the hypoprotidic diet during childhood
measure: The IQ score in adulthood assessed defined by the target Phenylalanine level in one subgroup treated during 8 years.
time frame: Baseline, at the last time of decline (= 8 years of low-protein diet)
description: The IQ score in adulthood assessed at the last time of decline according to the two subgroups treated during 8 years, defined by the target Phenylalanine level ((2-5 mg/dl versus 8-12 mg/dl)
measure: The IQ score in adulthood assessed according to the length of expanding the Diet (Phe intake) during childhood for children treated during 10 years (target Phe level 2-5 mg/dl)
time frame: Baseline,at the last time of decline (= 10 years of low-protein diet)
description: The IQ score in adulthood assessed according to length (and degree) of expanding the Diet (increasing Phe intake, during 6 months whatever the Phe levels or longer according the Phe levels) during childhood for children treated during 10 years (xith target Phe level 2-5 mg/dl)
measure: The IQ score in adulthood assessed defined by the metabolic biological parameters in childhood
time frame: Baseline
description: The IQ score in adulthood assessed at the last time of decline according to the metabolic parameters during childhood
measure: The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl)
time frame: baseline
description: The IQ score in adulthood assessed according to the first phenylalanine level in the target (< 5 mg/dl) in the neonatal period
arm group label: Adults Phenylketonuric
description: Adults patients screened in neonatal period for PKU and treated
Plasma and dried blood on blotter (dried blood spot) for Phe Rate Whole blood on EDTA for
      genetics
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: Karine MENTION, MD,PhD
role: Principal Investigator
affiliation: University Hospital, Lille
last name: Karine MENTION, MD,PhD
phone: 0320444149
phone ext: +33
email: karine.mention@chru-lille.fr
responsible party type: Sponsor
mesh term: Phenylketonurias