The classic website will no longer be available as of June 25, 2024. Please use the modernized ClinicalTrials.gov.
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT03505125
Recruitment Status : Completed
First Posted : April 23, 2018
Last Update Posted : January 14, 2020
Sponsor:
Information provided by (Responsible Party):
BioMarin Pharmaceutical

Study Description
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
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.
Study Design
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Layout table for study information
Study Type : Observational
Actual Enrollment : 63 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
Actual Primary Completion Date : July 31, 2019
Actual Study Completion Date : July 31, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Phenylketonuria

Groups and Cohorts
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.


Outcome Measures
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.


Eligibility Criteria
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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.


Layout table for eligibility information
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.
Contacts and Locations
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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
Layout table for location information
United States, Florida
University of Florida
Gainesville, Florida, United States, 32610
United States, Georgia
Emory University Department of Human Genetics
Decatur, Georgia, United States, 30033
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
France
Necker Children's Hospital
Paris, Cedex 15, France, 75743
Bretonneau Hospital, Internal Medicine Department
Tours, Cedex 9, France, 37044
Germany
University Klinik Jena, Klinik für Neuropädiatrie
Jena, Thuringia, Germany
Rheumatology Unit, Clinic for Inborn Errors of Metabolism
Leipzig, Germany
Italy
Hospital of Padova
Padova, Italy, 35128
Umberto I Polyclinic of Rome
Roma, Italy, 00185
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
Layout table for investigator information
Study Director: Medical Director, MD BioMarin Pharmaceutical
More Information
Go to 
Top of Page Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Layout table for additonal information
Responsible Party: BioMarin Pharmaceutical
ClinicalTrials.gov Identifier: NCT03505125    
Other Study ID Numbers: 165-901
First Posted: April 23, 2018    Key Record Dates
Last Update Posted: January 14, 2020
Last Verified: January 2020

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
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