Clinical trial NCT03505125: 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
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Phenylketonuria (PKU)
Lead sponsor: BioMarin Pharmaceutical
Sponsor class: INDUSTRY
First posted: 2018-04-23
Enrollment: 63
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: RETROSPECTIVE
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

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.

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.

Primary outcomes:
measure: PKU Symptom Survey
timeFrame: 15 minutes
Secondary outcomes:
Other outcomes:
Locations:
city: Gainesville
country: United States
facility: University of Florida
state: Florida
city: Decatur
country: United States
facility: Emory University Department of Human Genetics
state: Georgia
city: Chicago
country: United States
facility: Ann and Robert H Lurie Children's Hospital
state: Illinois
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Vancouver
country: Canada
facility: Adult Metabolic Diseases Clinic, Vancouver General Hospital
state: British Columbia
city: Paris
country: France
facility: Necker Children's Hospital
state: Cedex 15
city: Tours
country: France
facility: Bretonneau Hospital, Internal Medicine Department
state: Cedex 9
city: Jena
country: Germany
facility: University Klinik Jena, Klinik für Neuropädiatrie
state: Thuringia
city: Leipzig
country: Germany
facility: Rheumatology Unit, Clinic for Inborn Errors of Metabolism
city: Padova
country: Italy
facility: Hospital of Padova
city: Roma
country: Italy
facility: Umberto I Polyclinic of Rome
city: Ankara
country: Turkey
facility: Hacettepe University
city: İzmir
country: Turkey
facility: Ege University School of Medicine
city: London
country: United Kingdom
facility: National Hospital for Neurology and Neurosurgery
state: England
Study officials:
affiliation: BioMarin Pharmaceutical
name: Medical Director, MD
role: STUDY_DIRECTOR
References: