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

January 13, 2020 updated by: BioMarin Pharmaceutical

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

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.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

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

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
63

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

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

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

14 years to 66 years (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Other
  • Time Perspectives: Retrospective

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
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.

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
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.
15 minutes

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
BioMarin Pharmaceutical

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
March 31, 2018

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
July 31, 2019

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
July 31, 2019

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
April 13, 2018

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
April 13, 2018

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
April 23, 2018

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
January 14, 2020

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
January 13, 2020

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
January 1, 2020

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • 165-901

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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