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

• ClinicalTrials.gov Identifier: NCT03505125
• Recruitment Status: Completed
• First Posted: April 23, 2018
• Last Update Posted: January 14, 2020
• Sponsor: BioMarin Pharmaceutical
• Information provided by (Responsible Party): BioMarin Pharmaceutical

Tracking Information

• First Submitted Date: April 13, 2018
• First Posted Date: April 23, 2018
• Last Update Posted Date: January 14, 2020
• Actual Study Start Date: March 31, 2018
• Actual Primary Completion Date: July 31, 2019 (Final data collection date for primary outcome measure)

Current Primary Outcome Measures (submitted: April 13, 2018)

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.

• Original Primary Outcome Measures: Same as current
• Current Secondary Outcome Measures: Not Provided
• Original Secondary Outcome Measures: Not Provided
• Current Other Pre-specified Outcome Measures: Not Provided
• Original Other Pre-specified Outcome Measures: Not Provided

Descriptive Information

• Brief Title: A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults
• Official Title: A Non-Interventional Observational Study of Pegvaliase-Naïve Adults With Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews
• 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.
• 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
• Study Design: Observational Model: Other; Time Perspective: Retrospective
• Target Follow-Up Duration: Not Provided
• Biospecimen: Not Provided
• 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

• Condition: Phenylketonuria (PKU)
• Intervention: Not Provided

Study Groups/Cohorts

• 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.

• Publications *: Not Provided

Recruitment Information

• Recruitment Status: Completed
• Actual Enrollment (submitted: January 13, 2020): 63
• Original Estimated Enrollment (submitted: April 13, 2018): 88
• Actual Study Completion Date: July 31, 2019
• Actual Primary Completion Date: July 31, 2019 (Final data collection date for primary outcome measure)

Eligibility 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.

Sex/Gender

• Sexes Eligible for Study: All

• Ages: 18 Years to 70 Years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Contacts: Contact information is only displayed when the study is recruiting subjects
• Listed Location Countries: Canada, France, Germany, Italy, Turkey, United Kingdom, United States

Administrative Information

• NCT Number: NCT03505125
• Other Study ID Numbers: 165-901
• Has Data Monitoring Committee: No

U.S. FDA-regulated Product

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

• IPD Sharing Statement: Not Provided
• Current Responsible Party: BioMarin Pharmaceutical
• Original Responsible Party: Same as current
• Current Study Sponsor: BioMarin Pharmaceutical
• Original Study Sponsor: Same as current
• Collaborators: Not Provided

Investigators

• Study Director: Medical Director, MD; BioMarin Pharmaceutical

• PRS Account: BioMarin Pharmaceutical
• Verification Date: January 2020