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

• Sponsor: BioMarin Pharmaceutical (Industry)
• Overall Status: Completed
• CT.gov ID: NCT03505125
• Collaborator: (none)
• Enrollment: 63
• Locations: 14
• Actual Duration (Months): 16
• Patients Per Site: 4.5
• Patients Per Site Per Month: 0.3

Study Details

Study Description

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.

Condition or Disease	Intervention/Treatment	Phase
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 Design

• Study Type: Observational
• Actual Enrollment: 63 participants
• Observational Model: Other
• Time Perspective: Retrospective
• Official Title: A Non-Interventional Observational Study of Pegvaliase-Naïve Adults With Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews
• Actual Study Start Date: Mar 31, 2018
• Actual Primary Completion Date: Jul 31, 2019
• Actual Study Completion Date: Jul 31, 2019

Arms and Interventions

Arm	Intervention/Treatment
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.

Outcome Measures

Primary Outcome Measures

1. PKU Symptom Survey [15 minutes]

   60 item survey asking patients, observers and clinical experts about the symptoms and behaviors associated with PKU and changes in Phe level.

Eligibility Criteria

Criteria

• Ages Eligible for Study: 18 Years to 70 Years
• Sexes Eligible for Study: All
• Accepts Healthy Volunteers: No

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.

Contacts and Locations

Locations

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

Sponsors and Collaborators

• BioMarin Pharmaceutical

Investigators

• Study Director: Medical Director, MD, BioMarin Pharmaceutical

Study Documents (Full-Text)

None provided.

More Information

Publications

None provided.

• Responsible Party: BioMarin Pharmaceutical
• ClinicalTrials.gov Identifier: NCT03505125
• Other Study ID Numbers: 165-901
• First Posted: Apr 23, 2018
• Last Update Posted: Jan 14, 2020
• Last Verified: Jan 1, 2020

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No
• Additional relevant MeSH terms: Phenylketonurias

Study Results

No Results Posted as of Jan 14, 2020