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A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults (165-901)

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ClinicalTrials.gov Identifier: NCT03505125
Recruitment Status : Enrolling by invitation
First Posted : April 23, 2018
Last Update Posted : November 14, 2018
Sponsor:
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Brief Summary:
The 165-901 study is designed to identify the appropriate tools for use in future interventional studies on the neurocognitive effects of pegvaliase on adults with PKU.

Condition or disease
Phenylketonuria (PKU)

Detailed Description:
Clinical studies have suggested that treatment with pegvaliase results in lowering of blood Phenylalanine levels in adults with Phenylketonuria (PKU). Because these individuals often exhibit inattention and mood difficulties, and blood Phe concentration affects cognition and mood, life-long blood Phe control with pegvaliase may improve cognitive abilities and emotional and mental health in patients with PKU. In order to adequately quantify potential pegvaliase treatment impact on cognition and mood, it is necessary to employ clinical outcome assessments (COAs) that are fit for purpose and that comprehensively address concepts important, relevant, and meaningful to PKU patients. This is an observational study to identify symptom, function, and health-related quality of life (HRQoL) concepts of interest (COIs) to patients with PKU and to seek additional patient, observer, and expert input on the appropriateness of concepts of BioMarin's proposed COAs for use in future efficacy trials in PKU.

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Study Type : Observational
Estimated Enrollment : 88 participants
Observational Model: Other
Time Perspective: Retrospective
Official Title: A Non-Interventional Observational Study of Pegvaliase-Naïve Adults With Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews
Actual Study Start Date : March 31, 2018
Estimated Primary Completion Date : March 29, 2019
Estimated Study Completion Date : March 29, 2019


Group/Cohort
PKU Patients
Adults with PKU will be interviewed about the symptoms and impacts of PKU.
Observers
Close friends and family members of adults with PKU will be interviewed about the behaviors they have observed in adults with PKU
Clinical Experts
Experienced, practicing clinicians currently treating adults with PKU will be interviewed about the symptoms and impacts of PKU on their patients.



Primary Outcome Measures :
  1. PKU Symptom Survey [ Time Frame: 15 minutes ]
    60 item survey asking patients, observers and clinical experts about the symptoms and behaviors associated with PKU and changes in Phe level.



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


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Ages Eligible for Study:   18 Years to 70 Years   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
  1. Individuals with PKU ≥18 years to ≤ 70 years of age who are naïve to pegvaliase
  2. Observers ≥18 years of an individual with PKU ≥18 years to ≤ 70 years of age who are naïve to pegvaliase
  3. Clinical experts currently treating PKU adults
Criteria

Inclusion Criteria:

Patients eligible to participate in this study must meet all of the following criteria:

  1. ≥18 and ≤70 years of age at the time of consent;
  2. Clinically-confirmed diagnosis of Phenylketonuria (PKU);
  3. Blood Phe test completed within eight weeks prior to screening date or blood Phe test completed within eight weeks post screening date;
  4. Able to read, understand, and speak fluently the language(s) of their designated country sufficiently to participate in an interview and/or complete all assessments;
  5. Willing and able to participate in a telephone interview lasting approximately 90 minutes;
  6. Willing to be audio-recorded during the interview session;
  7. Willing and able to provide written informed consent indicating that they understand the purpose and procedures required for the study and are willing to participate.

Exclusion Criteria:

Patients meeting any of the following criteria will not be included in the study:

  1. Currently pregnant;
  2. Current or previous exposure to pegvaliase treatment or participation in a pegvaliase clinical trial;
  3. Has a significant cognitive impairment, hearing difficulty, visual impairment, acute psychopathology, medical condition, or insufficient knowledge of the interview language that, in the opinion of the investigator or interviewer, would interfere with his or her ability to provide written consent and participate/complete an interview.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03505125


Locations
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United States, Florida
University of Florida
Gainesville, Florida, United States, 32610
United States, Georgia
Emory University
Atlanta, Georgia, United States, 30322
United States, Illinois
Ann and Robert H Lurie Children's Hospital
Chicago, Illinois, United States, 60614
United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
Canada, British Columbia
Adult Metabolic Diseases Clinic, Vancouver General Hospital
Vancouver, British Columbia, Canada
Germany
University Klinik Jena, Klinik für Neuropädiatrie
Jena, Thuringia, Germany
Rheumatology Unit, Clinic for Inborn Errors of Metabolism
Leipzig, Germany
Turkey
Hacettepe University
Ankara, Turkey
Ege University School of Medicine
İzmir, Turkey, 35040
United Kingdom
National Hospital for Neurology and Neurosurgery
London, England, United Kingdom, WC1N 3BG
Sponsors and Collaborators
BioMarin Pharmaceutical
Investigators
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Study Director: Medical Director, MD BioMarin Pharmaceutical

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Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT03505125     History of Changes
Other Study ID Numbers: 165-901
First Posted: April 23, 2018    Key Record Dates
Last Update Posted: November 14, 2018
Last Verified: November 2018

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Additional relevant MeSH terms:
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Phenylketonurias
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases