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

A Non-Interventional Observational Study of Pegvaliase-Naïve Adults With Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews

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.

Study Overview

• Status: Completed
• Conditions: 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 Type: Observational
• Enrollment (Actual): 63

Contacts and Locations

Study Locations

• Canada
  • British Columbia
    • Vancouver, British Columbia, Canada
      • Adult Metabolic Diseases Clinic, Vancouver General Hospital
• France
  • Cedex 15
    • Paris, Cedex 15, France, 75743
      • Necker Children's Hospital
  • Cedex 9
    • Tours, Cedex 9, France, 37044
      • Bretonneau Hospital, Internal Medicine Department
• Germany
  • Leipzig, Germany
    • Rheumatology Unit, Clinic for Inborn Errors of Metabolism
  • Thuringia
    • Jena, Thuringia, Germany
      • University Klinik Jena, Klinik für Neuropädiatrie
• Italy
  • Padova, Italy, 35128
    • Hospital of Padova
  • Roma, Italy, 00185
    • Umberto I Polyclinic of Rome
• Turkey
  • Ankara, Turkey
    • Hacettepe University
  • İzmir, Turkey, 35040
    • Ege University School of Medicine
• United Kingdom
  • England
    • London, England, United Kingdom, WC1N 3BG
      • National Hospital For Neurology and Neurosurgery
• United States
  • Florida
    • Gainesville, Florida, United States, 32610
      • University of Florida
  • Georgia
    • Decatur, Georgia, United States, 30033
      • Emory University Department of Human Genetics
  • Illinois
    • Chicago, Illinois, United States, 60614
      • Ann and Robert H Lurie Children's Hospital
  • Massachusetts
    • Boston, Massachusetts, United States, 02115
      • Boston Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 14 years to 66 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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

Description

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.

Study Plan

How is the study designed?

Design Details

• Observational Models: Other
• Time Perspectives: Retrospective

Number of groups / cohorts

3

Cohorts and Interventions

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
PKU Symptom Survey	60 item survey asking patients, observers and clinical experts about the symptoms and behaviors associated with PKU and changes in Phe level.	15 minutes

Collaborators and Investigators

• Sponsor: BioMarin Pharmaceutical

Study record dates

Study Major Dates

• Study Start (Actual): March 31, 2018
• Primary Completion (Actual): July 31, 2019
• Study Completion (Actual): July 31, 2019

Study Registration Dates

• First Submitted: April 13, 2018
• First Submitted That Met QC Criteria: April 13, 2018
• First Posted (Actual): April 23, 2018

Study Record Updates

• Last Update Posted (Actual): January 14, 2020
• Last Update Submitted That Met QC Criteria: January 13, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Phenylketonurias
• Other Study ID Numbers: 165-901

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No