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

Phenylketonuria (PKU) Clinical Trial

— 165-901  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03505125
• Other study ID #: 165-901
• Status: Completed
• Start date: March 31, 2018
• Est. completion date: July 31, 2019

Study information

• Verified date: January 2020
• Source: BioMarin Pharmaceutical
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 63
• Est. completion date: July 31, 2019
• Est. primary completion date: July 31, 2019
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 70 Years

Eligibility

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.

Related Conditions & MeSH terms

• Phenylketonuria (PKU)
• Phenylketonurias

Locations

Country	Name	City	State
Canada	Adult Metabolic Diseases Clinic, Vancouver General Hospital	Vancouver	British Columbia
France	Necker Children's Hospital	Paris	Cedex 15
France	Bretonneau Hospital, Internal Medicine Department	Tours	Cedex 9
Germany	University Klinik Jena, Klinik für Neuropädiatrie	Jena	Thuringia
Germany	Rheumatology Unit, Clinic for Inborn Errors of Metabolism	Leipzig
Italy	Hospital of Padova	Padova
Italy	Umberto I Polyclinic of Rome	Roma
Turkey	Hacettepe University	Ankara
Turkey	Ege University School of Medicine	Izmir
United Kingdom	National Hospital for Neurology and Neurosurgery	London	England
United States	Boston Children's Hospital	Boston	Massachusetts
United States	Ann and Robert H Lurie Children's Hospital	Chicago	Illinois
United States	Emory University Department of Human Genetics	Decatur	Georgia
United States	University of Florida	Gainesville	Florida

Sponsors (1)

Lead Sponsor	Collaborator
BioMarin Pharmaceutical

Countries where clinical trial is conducted

United States,  Canada,  France,  Germany,  Italy,  Turkey,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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