<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/NCT03820804</url>
  </required_header>
  <id_info>
    <org_study_id>Nutrition_PKU</org_study_id>
    <nct_id>NCT03820804</nct_id>
  </id_info>
  <brief_title>Nutritional Status in Phenylketonuria</brief_title>
  <acronym>TNSPKU</acronym>
  <official_title>Trends in Nutritional Status of Patients With Phenylketonuria</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>Universidade do Porto</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
    <collaborator>
      <agency>Centro Hospitalar do Porto</agency>
      <agency_class>Other</agency_class>
    </collaborator>
    <collaborator>
      <agency>BioMarin Pharmaceutical</agency>
      <agency_class>Industry</agency_class>
    </collaborator>
  </sponsors>
  <source>Universidade do Porto</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>Yes</is_us_export>
  </oversight_info>
  <brief_summary>
    <textblock>
      In the era of Phenylketonuria (PKU) newborn screening, early diagnosis in the neonatal period&#xD;
      and prompt treatment institution has protected patients from developing severe and&#xD;
      irreversible mental retardation. The main objective of the treatment is to prevent a chronic&#xD;
      elevation of blood Phe concentrations, which together with reduced tyrosine concentrations&#xD;
      may increase the risk of neurologic damage. In order to achieve this purpose, the mainstay of&#xD;
      treatment is a special diet characterized by a natural protein restriction, supplemented with&#xD;
      protein substitutes and special low protein foods.&#xD;
&#xD;
      The requirement to optimize growth and body composition, usually result in dietary&#xD;
      prescriptions that are high in carbohydrate (&gt;60% of energy intake), to promote anabolism,&#xD;
      considering the synthetic properties of this special diet. Some studies have described a high&#xD;
      risk of developing overweight and obesity. Although there is a tendency for a higher&#xD;
      incidence in females, it seems that the prevalence in PKU patients follows the same trend as&#xD;
      the general population. However, there are limited studies published so far and no&#xD;
      longitudinal studies are available describing current practice and its impact on the&#xD;
      prevalence of overweight and obesity; neither its consequences in terms of metabolic syndrome&#xD;
      or cardiometabolic markers.&#xD;
&#xD;
      Recently, sapropterin dihydrochloride, which is the synthetic form of Phenylalanine&#xD;
      Hydroxylase cofactor, is available in Portugal for patients with PKU. In practice, the&#xD;
      sapropterin treated patients increase their natural protein intake, minimizing the synthetic&#xD;
      characteristics of the diet. While there is a need for patient re-education about the&#xD;
      practicalities of meeting their nutritional needs, scientific evidence about the nutritional&#xD;
      status impact of diet liberalization is inadequate.&#xD;
&#xD;
      This study aims to test the following hypothesis:&#xD;
&#xD;
        1. Global nutritional status is not significantly affected in patients with PKU under&#xD;
           exclusive dietary treatment.&#xD;
&#xD;
        2. There is a trend for increased rates of overweight and obesity in patients with PKU from&#xD;
           2009 and we consider this will continue to increase.&#xD;
&#xD;
        3. The start of sapropterin treatment allows a higher natural protein intake in patients&#xD;
           with PKU that significantly targets nutritional status in at least one of its components&#xD;
           (anthropometry, body composition or biochemistry).&#xD;
    </textblock>
  </brief_summary>
  <detailed_description>
    <textblock>
      At the Centro Hospitalar do Porto (Reference Centre for the treatment of Inherited Metabolic&#xD;
      Diseases) the annual nutritional status evaluation routinely generates data on anthropometry,&#xD;
      body composition, blood pressure, nutritional intake and clinical biochemistry. Since 2009,&#xD;
      all this information is recorded for all the patients with PKU under follow-up.&#xD;
&#xD;
      For the purpose of this project, data will be collected, from 2009 until 2018, using a&#xD;
      minimum of 5 annual nutritional status evaluations per patient. The project will be able to&#xD;
      compare the longitudinal evolution of nutritional status in exclusively diet treated patients&#xD;
      (period between 2009 and 2014) with a subgroup of patients already under sapropterin&#xD;
      treatment in the period between 2015 and 2018. Genotype is available for all patients with&#xD;
      PKU under follow-up at Centro Hospitalar do Porto. However, the decision for starting&#xD;
      sapropterin treatment was based on the results from a sapropterin-loading test protocol,&#xD;
      approved in 2014 by the Portuguese Society of Metabolic Disorders (not published).&#xD;
&#xD;
      For every PKU patient under follow-up at Centro Hospitalar do Porto, the information about&#xD;
      nutritional intake is recorded in a special file that contains all the diet details collected&#xD;
      in every appointment. In that way, for the purpose of the annual nutritional status&#xD;
      evaluation, every PKU patient is submitted to anthropometric and body composition&#xD;
      evaluations, blood pressure assessment and blood samples collection for completing the&#xD;
      hematological and biochemical measurements. Also in the same day, at the nutrition&#xD;
      appointment, a dietary assessment is done, in order to allow further nutrition adjustments&#xD;
      when needed. This approach allows us to know the precise nutritional ingestion in the period&#xD;
      before all the measurements.&#xD;
&#xD;
      Data will be collected from patient databases or patient records. In the period between 2009&#xD;
      and 2014 there are no treatments or interventions to which the patients can be randomly&#xD;
      assigned, as no specific treatment is the focus of the project. In the period between 2015&#xD;
      and 2018, patients will be divided in two groups based on treatment modalities: diet-treated&#xD;
      only or sapropterin treatment. However, their assignment in each group does not have any&#xD;
      influence of the project itself. The inclusion in one of the two groups will be decided based&#xD;
      on the results of the sapropterin loading test done previously within the clinical routine&#xD;
      protocol. Patients will be identified only by a number and only medical data will be&#xD;
      collected. No directly or indirectly nominative data will be collected and data will be&#xD;
      anonymous.&#xD;
    </textblock>
  </detailed_description>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">January 7, 2019</start_date>
  <completion_date type="Actual">September 10, 2019</completion_date>
  <primary_completion_date type="Actual">September 10, 2019</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>Retrospective</time_perspective>
  </study_design_info>
  <primary_outcome>
    <measure>Overweight and obesity prevalence</measure>
    <time_frame>2009-2018</time_frame>
    <description>To determine the prevalence of overweight and obesity.</description>
  </primary_outcome>
  <primary_outcome>
    <measure>Overweight and obesity incidence</measure>
    <time_frame>2009-2018</time_frame>
    <description>To determine the incidence of overweight and obesity.</description>
  </primary_outcome>
  <secondary_outcome>
    <measure>Metabolic syndrome prevalence</measure>
    <time_frame>2009-2018</time_frame>
    <description>To determine the change of the prevalence of metabolic syndrome in patients.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Metabolic syndrome incidence</measure>
    <time_frame>2009-2018</time_frame>
    <description>To determine the incidence of metabolic syndrome in patients.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Body composition using bioelectrical impedance analysis</measure>
    <time_frame>2009-2018</time_frame>
    <description>To describe the body composition evolution (fat mass, fat-free mass and phase angle) throughout the 10 years of the study.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Metabolic control (blood phenylalanine concentration)</measure>
    <time_frame>2009-2018</time_frame>
    <description>To describe the evolution of metabolic control in patients.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Metabolic control (blood phenylalanine concentration) and sapropterin</measure>
    <time_frame>2015-2018</time_frame>
    <description>To describe the evolution of metabolic control (blood phenylalanine concentrations) in patients under sapropterin treatment during the period between 2015 and 2018.</description>
  </secondary_outcome>
  <secondary_outcome>
    <measure>Phenylalanine intake and sapropterin</measure>
    <time_frame>2015-2018</time_frame>
    <description>To understand the impact of sapropterin treatment on phenylalanine intake (mg of phenylalanine/day) during the period between 2015 and 2018.</description>
  </secondary_outcome>
  <number_of_groups>2</number_of_groups>
  <enrollment type="Actual">94</enrollment>
  <condition>Phenylketonurias</condition>
  <arm_group>
    <arm_group_label>Diet-treated</arm_group_label>
    <description>Patients with Phenylketonuria under dietary treatment.</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Sapropterin-treated</arm_group_label>
    <description>Patients with Phenylketonuria under sapropterin treatment.</description>
  </arm_group>
  <intervention>
    <intervention_type>Other</intervention_type>
    <intervention_name>Diet</intervention_name>
    <description>A specific dietary treatment for patients with Phenylketonuria.</description>
    <arm_group_label>Diet-treated</arm_group_label>
    <other_name>Dietary treatment</other_name>
  </intervention>
  <intervention>
    <intervention_type>Drug</intervention_type>
    <intervention_name>Sapropterin</intervention_name>
    <description>A pharmacological treatment for patients with Phenylketonuria, used alone or in combination with dietary treatment.</description>
    <arm_group_label>Sapropterin-treated</arm_group_label>
    <other_name>Tetrahydrobiopterin</other_name>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Centro Hospitalar do Porto is one Portuguese Reference Centre for the treatment of inborn&#xD;
        errors of metabolism. A cohort of patients with Phenylketonuria is under follow-up with&#xD;
        different treatment strategies implemented. All treatment strategies are fully reimbursed&#xD;
        by the Portuguese health system and this project aims to evaluate the longitudinal impact&#xD;
        of different treatment options on nutritional status outcome.&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Diagnosis of PKU.&#xD;
&#xD;
          -  With all the clinical data available since 2009.&#xD;
&#xD;
          -  Have completed the annual routine nutritional status evaluation in the periods&#xD;
             2009/2010, 2011/2012, 2013/2014, 2015/2016 and 2017/2018.&#xD;
&#xD;
          -  Maintaining a follow-up at Centro Hospitalar do Porto.&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  Lost of follow-up.&#xD;
&#xD;
          -  Not have completed at least one full evaluation in each time period: 2009/2010,&#xD;
             2011/2012, 2013/2014, 2015/2016 and 2017/2018.&#xD;
&#xD;
          -  Any other chronic medical condition which may affect diet or nutritional status.&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>3 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
  </eligibility>
  <overall_official>
    <last_name>Júlio C Rocha, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Centro Hospitalar do Porto</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>Centro Hospitalar Universitário do Porto</name>
      <address>
        <city>Porto</city>
        <zip>4099-001</zip>
        <country>Portugal</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>Portugal</country>
  </location_countries>
  <reference>
    <citation>MacDonald A, Rocha JC, van Rijn M, Feillet F. Nutrition in phenylketonuria. Mol Genet Metab. 2011;104 Suppl:S10-8. doi: 10.1016/j.ymgme.2011.08.023. Epub 2011 Sep 2.</citation>
    <PMID>21944460</PMID>
  </reference>
  <reference>
    <citation>Rocha JC, van Spronsen FJ, Almeida MF, Soares G, Quelhas D, Ramos E, Guimaraes JT, Borges N. Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab. 2012 Dec;107(4):659-63. doi: 10.1016/j.ymgme.2012.10.006. Epub 2012 Oct 16.</citation>
    <PMID>23137570</PMID>
  </reference>
  <reference>
    <citation>Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Belanger-Quintana A, MacDonald A. Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin Nutr. 2012 Feb;31(1):16-21. doi: 10.1016/j.clnu.2011.09.001. Epub 2011 Sep 29.</citation>
    <PMID>21959353</PMID>
  </reference>
  <reference>
    <citation>Rocha JC, MacDonald A, Trefz F. Is overweight an issue in phenylketonuria? Mol Genet Metab. 2013;110 Suppl:S18-24. doi: 10.1016/j.ymgme.2013.08.012. Epub 2013 Aug 31.</citation>
    <PMID>24055312</PMID>
  </reference>
  <reference>
    <citation>MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Belanger-Quintana A. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? Br J Nutr. 2011 Jul;106(2):175-82. doi: 10.1017/S0007114511000298.</citation>
    <PMID>21466737</PMID>
  </reference>
  <reference>
    <citation>Rocha JC, van Spronsen FJ, Almeida MF, Ramos E, Guimaraes JT, Borges N. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Mol Genet Metab. 2013;110 Suppl:S40-3. doi: 10.1016/j.ymgme.2013.10.009. Epub 2013 Oct 22.</citation>
    <PMID>24183791</PMID>
  </reference>
  <reference>
    <citation>Gokmen Ozel H, Ahring K, Belanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, Rocha JC, Almeida MF, van Rijn M, MacDonald A. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Mol Genet Metab Rep. 2014 Nov 16;1:483-486. doi: 10.1016/j.ymgmr.2014.11.003. eCollection 2014.</citation>
    <PMID>27896128</PMID>
  </reference>
  <reference>
    <citation>Rocha JC, van Rijn M, van Dam E, Ahring K, Belanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Robert M, Heidenborg C, MacDonald A. Weight Management in Phenylketonuria: What Should Be Monitored. Ann Nutr Metab. 2016;68(1):60-5. doi: 10.1159/000442304. Epub 2015 Nov 25.</citation>
    <PMID>26598928</PMID>
  </reference>
  <verification_date>December 2018</verification_date>
  <study_first_submitted>October 19, 2018</study_first_submitted>
  <study_first_submitted_qc>January 25, 2019</study_first_submitted_qc>
  <study_first_posted type="Actual">January 29, 2019</study_first_posted>
  <last_update_submitted>September 9, 2019</last_update_submitted>
  <last_update_submitted_qc>September 9, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">September 10, 2019</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>Phenylketonurias</mesh_term>
  </condition_browse>
  <patient_data>
    <sharing_ipd>Undecided</sharing_ipd>
    <ipd_description>A detailed list of the variables to be collected can be shared with other researchers.</ipd_description>
  </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/NCT03820804
org study id: Nutrition_PKU
nct id: NCT03820804
lead sponsor: 
collaborator: 
collaborator: 
has dmc: No
is fda regulated drug: Yes
is fda regulated device: No
is us export: Yes
In the era of Phenylketonuria (PKU) newborn screening, early diagnosis in the neonatal period
      and prompt treatment institution has protected patients from developing severe and
      irreversible mental retardation. The main objective of the treatment is to prevent a chronic
      elevation of blood Phe concentrations, which together with reduced tyrosine concentrations
      may increase the risk of neurologic damage. In order to achieve this purpose, the mainstay of
      treatment is a special diet characterized by a natural protein restriction, supplemented with
      protein substitutes and special low protein foods.

      The requirement to optimize growth and body composition, usually result in dietary
      prescriptions that are high in carbohydrate (>60% of energy intake), to promote anabolism,
      considering the synthetic properties of this special diet. Some studies have described a high
      risk of developing overweight and obesity. Although there is a tendency for a higher
      incidence in females, it seems that the prevalence in PKU patients follows the same trend as
      the general population. However, there are limited studies published so far and no
      longitudinal studies are available describing current practice and its impact on the
      prevalence of overweight and obesity; neither its consequences in terms of metabolic syndrome
      or cardiometabolic markers.

      Recently, sapropterin dihydrochloride, which is the synthetic form of Phenylalanine
      Hydroxylase cofactor, is available in Portugal for patients with PKU. In practice, the
      sapropterin treated patients increase their natural protein intake, minimizing the synthetic
      characteristics of the diet. While there is a need for patient re-education about the
      practicalities of meeting their nutritional needs, scientific evidence about the nutritional
      status impact of diet liberalization is inadequate.

      This study aims to test the following hypothesis:

        1. Global nutritional status is not significantly affected in patients with PKU under
           exclusive dietary treatment.

        2. There is a trend for increased rates of overweight and obesity in patients with PKU from
           2009 and we consider this will continue to increase.

        3. The start of sapropterin treatment allows a higher natural protein intake in patients
           with PKU that significantly targets nutritional status in at least one of its components
           (anthropometry, body composition or biochemistry).
At the Centro Hospitalar do Porto (Reference Centre for the treatment of Inherited Metabolic
      Diseases) the annual nutritional status evaluation routinely generates data on anthropometry,
      body composition, blood pressure, nutritional intake and clinical biochemistry. Since 2009,
      all this information is recorded for all the patients with PKU under follow-up.

      For the purpose of this project, data will be collected, from 2009 until 2018, using a
      minimum of 5 annual nutritional status evaluations per patient. The project will be able to
      compare the longitudinal evolution of nutritional status in exclusively diet treated patients
      (period between 2009 and 2014) with a subgroup of patients already under sapropterin
      treatment in the period between 2015 and 2018. Genotype is available for all patients with
      PKU under follow-up at Centro Hospitalar do Porto. However, the decision for starting
      sapropterin treatment was based on the results from a sapropterin-loading test protocol,
      approved in 2014 by the Portuguese Society of Metabolic Disorders (not published).

      For every PKU patient under follow-up at Centro Hospitalar do Porto, the information about
      nutritional intake is recorded in a special file that contains all the diet details collected
      in every appointment. In that way, for the purpose of the annual nutritional status
      evaluation, every PKU patient is submitted to anthropometric and body composition
      evaluations, blood pressure assessment and blood samples collection for completing the
      hematological and biochemical measurements. Also in the same day, at the nutrition
      appointment, a dietary assessment is done, in order to allow further nutrition adjustments
      when needed. This approach allows us to know the precise nutritional ingestion in the period
      before all the measurements.

      Data will be collected from patient databases or patient records. In the period between 2009
      and 2014 there are no treatments or interventions to which the patients can be randomly
      assigned, as no specific treatment is the focus of the project. In the period between 2015
      and 2018, patients will be divided in two groups based on treatment modalities: diet-treated
      only or sapropterin treatment. However, their assignment in each group does not have any
      influence of the project itself. The inclusion in one of the two groups will be decided based
      on the results of the sapropterin loading test done previously within the clinical routine
      protocol. Patients will be identified only by a number and only medical data will be
      collected. No directly or indirectly nominative data will be collected and data will be
      anonymous.
observational model: Cohort
time perspective: Retrospective
measure: Overweight and obesity prevalence
time frame: 2009-2018
description: To determine the prevalence of overweight and obesity.
measure: Overweight and obesity incidence
time frame: 2009-2018
description: To determine the incidence of overweight and obesity.
measure: Metabolic syndrome prevalence
time frame: 2009-2018
description: To determine the change of the prevalence of metabolic syndrome in patients.
measure: Metabolic syndrome incidence
time frame: 2009-2018
description: To determine the incidence of metabolic syndrome in patients.
measure: Body composition using bioelectrical impedance analysis
time frame: 2009-2018
description: To describe the body composition evolution (fat mass, fat-free mass and phase angle) throughout the 10 years of the study.
measure: Metabolic control (blood phenylalanine concentration)
time frame: 2009-2018
description: To describe the evolution of metabolic control in patients.
measure: Metabolic control (blood phenylalanine concentration) and sapropterin
time frame: 2015-2018
description: To describe the evolution of metabolic control (blood phenylalanine concentrations) in patients under sapropterin treatment during the period between 2015 and 2018.
measure: Phenylalanine intake and sapropterin
time frame: 2015-2018
description: To understand the impact of sapropterin treatment on phenylalanine intake (mg of phenylalanine/day) during the period between 2015 and 2018.
arm group label: Diet-treated
description: Patients with Phenylketonuria under dietary treatment.
arm group label: Sapropterin-treated
description: Patients with Phenylketonuria under sapropterin treatment.
intervention type: Other
intervention name: Diet
description: A specific dietary treatment for patients with Phenylketonuria.
arm group label: Diet-treated
other name: Dietary treatment
intervention type: Drug
intervention name: Sapropterin
description: A pharmacological treatment for patients with Phenylketonuria, used alone or in combination with dietary treatment.
arm group label: Sapropterin-treated
other name: Tetrahydrobiopterin
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 3 Years
maximum age: N/A
last name: Júlio C Rocha, PhD
role: Principal Investigator
affiliation: Centro Hospitalar do Porto
facility: 
country: Portugal
citation: MacDonald A, Rocha JC, van Rijn M, Feillet F. Nutrition in phenylketonuria. Mol Genet Metab. 2011;104 Suppl:S10-8. doi: 10.1016/j.ymgme.2011.08.023. Epub 2011 Sep 2.
PMID: 21944460
citation: Rocha JC, van Spronsen FJ, Almeida MF, Soares G, Quelhas D, Ramos E, Guimaraes JT, Borges N. Dietary treatment in phenylketonuria does not lead to increased risk of obesity or metabolic syndrome. Mol Genet Metab. 2012 Dec;107(4):659-63. doi: 10.1016/j.ymgme.2012.10.006. Epub 2012 Oct 16.
PMID: 23137570
citation: Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Ahring K, Belanger-Quintana A, MacDonald A. Optimising growth in phenylketonuria: current state of the clinical evidence base. Clin Nutr. 2012 Feb;31(1):16-21. doi: 10.1016/j.clnu.2011.09.001. Epub 2011 Sep 29.
PMID: 21959353
citation: Rocha JC, MacDonald A, Trefz F. Is overweight an issue in phenylketonuria? Mol Genet Metab. 2013;110 Suppl:S18-24. doi: 10.1016/j.ymgme.2013.08.012. Epub 2013 Aug 31.
PMID: 24055312
citation: MacDonald A, Ahring K, Dokoupil K, Gokmen-Ozel H, Lammardo AM, Motzfeldt K, Robert M, Rocha JC, van Rijn M, Belanger-Quintana A. Adjusting diet with sapropterin in phenylketonuria: what factors should be considered? Br J Nutr. 2011 Jul;106(2):175-82. doi: 10.1017/S0007114511000298.
PMID: 21466737
citation: Rocha JC, van Spronsen FJ, Almeida MF, Ramos E, Guimaraes JT, Borges N. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition. Mol Genet Metab. 2013;110 Suppl:S40-3. doi: 10.1016/j.ymgme.2013.10.009. Epub 2013 Oct 22.
PMID: 24183791
citation: Gokmen Ozel H, Ahring K, Belanger-Quintana A, Dokoupil K, Lammardo AM, Robert M, Rocha JC, Almeida MF, van Rijn M, MacDonald A. Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey. Mol Genet Metab Rep. 2014 Nov 16;1:483-486. doi: 10.1016/j.ymgmr.2014.11.003. eCollection 2014.
PMID: 27896128
citation: Rocha JC, van Rijn M, van Dam E, Ahring K, Belanger-Quintana A, Dokoupil K, Gokmen Ozel H, Lammardo AM, Robert M, Heidenborg C, MacDonald A. Weight Management in Phenylketonuria: What Should Be Monitored. Ann Nutr Metab. 2016;68(1):60-5. doi: 10.1159/000442304. Epub 2015 Nov 25.
PMID: 26598928
responsible party type: Sponsor
mesh term: Phenylketonurias
sharing ipd: Undecided
ipd description: A detailed list of the variables to be collected can be shared with other researchers.