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

NCT ID: NCT03505125

Last Updated: 2020-01-14

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

63 participants

Study Classification

OBSERVATIONAL

Study Start Date

2018-03-31

Study Completion Date

2019-07-31

Brief Summary

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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

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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.

Conditions

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Phenylketonuria (PKU)

Study Design

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Observational Model Type

OTHER

Study Time Perspective

RETROSPECTIVE

Study Groups

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PKU Patients

Adults with PKU will be interviewed about the symptoms and impacts of PKU.

No interventions assigned to this group

Observers

Close friends and family members of adults with PKU will be interviewed about the behaviors they have observed in adults with PKU

No interventions assigned to this group

Clinical Experts

Experienced, practicing clinicians currently treating adults with PKU will be interviewed about the symptoms and impacts of PKU on their patients.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

18 Years

Maximum Eligible Age

70 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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BioMarin Pharmaceutical

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Medical Director, MD

Role: STUDY_DIRECTOR

BioMarin Pharmaceutical

Locations

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University of Florida

Gainesville, Florida, United States

Site Status

Emory University Department of Human Genetics

Decatur, Georgia, United States

Site Status

Ann and Robert H Lurie Children's Hospital

Chicago, Illinois, United States

Site Status

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

Adult Metabolic Diseases Clinic, Vancouver General Hospital

Vancouver, British Columbia, Canada

Site Status

Necker Children's Hospital

Paris, Cedex 15, France

Site Status

Bretonneau Hospital, Internal Medicine Department

Tours, Cedex 9, France

Site Status

University Klinik Jena, Klinik für Neuropädiatrie

Jena, Thuringia, Germany

Site Status

Rheumatology Unit, Clinic for Inborn Errors of Metabolism

Leipzig, , Germany

Site Status

Hospital of Padova

Padua, , Italy

Site Status

Umberto I Polyclinic of Rome

Roma, , Italy

Site Status

Hacettepe University

Ankara, , Turkey (Türkiye)

Site Status

Ege University School of Medicine

Izmir, , Turkey (Türkiye)

Site Status

National Hospital for Neurology and Neurosurgery

London, England, United Kingdom

Site Status

Countries

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United States Canada France Germany Italy Turkey (Türkiye) United Kingdom

Other Identifiers

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165-901

Identifier Type: -

Identifier Source: org_study_id

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