Phenylketonuria (PKU)165-901NCT03505125
A Non-Interventional Interview Study of Phenylketonuria (PKU) Adults
An observational study of Phenylketonuria (PKU), run by BioMarin Pharmaceutical at 14 sites in 7 countries.
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. Read more about this study
- Who is it for?
- Ages 18 to 70 years
- Conditions the study is for
- Phenylketonuria (PKU)
- How many people
- 63 participants
- Where
- 14 sitesin 7 countries
- Study dates
- 31 Mar 2018to 31 Jul 2019
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 70 years
- All sexes
- No healthy volunteers
- Adult, Older adult
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
Who may be able to join
- Patients eligible to participate in this study must meet all of the following criteria:
- ≥18 and ≤70 years of age at the time of consent;
- Clinically-confirmed diagnosis of Phenylketonuria (PKU);
- Blood Phe test completed within eight weeks prior to screening date or blood Phe test completed within eight weeks post screening date;
- 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;
- Willing and able to participate in a telephone interview lasting approximately 90 minutes;
- Willing to be audio-recorded during the interview session;
- 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.
Who cannot join
- Patients meeting any of the following criteria will not be included in the study:
- Currently pregnant;
- Current or previous exposure to pegvaliase treatment or participation in a pegvaliase clinical trial;
- 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.
Trial locations and contacts
14 sites in 7 countries.
14 sites in 7 countries
United States4 sites
Boston Children's Hospital
Boston, Massachusetts, 02115
Ann and Robert H Lurie Children's Hospital
Chicago, Illinois, 60614
Emory University Department of Human Genetics
Decatur, Georgia, 30033
University of Florida
Gainesville, Florida, 32610
France2 sites
Necker Children's Hospital
Paris, Cedex 15, 75743
Bretonneau Hospital, Internal Medicine Department
Tours, Cedex 9, 37044
Germany2 sites
University Klinik Jena, Klinik für Neuropädiatrie
Jena, Thuringia
Rheumatology Unit, Clinic for Inborn Errors of Metabolism
Leipzig
Italy2 sites
Hospital of Padova
Padova, 35128
Umberto I Polyclinic of Rome
Roma, 00185
Turkey (Türkiye)2 sites
Hacettepe University
Ankara
Ege University School of Medicine
Izmir, 35040
Canada1 site
Adult Metabolic Diseases Clinic, Vancouver General Hospital
Vancouver, British Columbia
United Kingdom1 site
National Hospital for Neurology and Neurosurgery
London, England, WC1N 3BG
About this study
Official title: 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.
Read the 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.
- Conditions
- Phenylketonuria (PKU)
- Medical subject headings
- Phenylketonurias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 15 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Apr 2018
- Study start31 Mar 2018
- Primary completion31 Jul 2019
- Study completion31 Jul 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Phenylketonuria (PKU)Studies of the same condition, open and under way.
- More trials run by BioMarin PharmaceuticalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Retrospective
- Enrolment
- 63 participants (actual)
Sponsor and investigators
- Lead sponsor
- BioMarin Pharmaceutical
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Medical Director, MD, Study director, BioMarin Pharmaceutical
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03505125
- Sponsor's protocol ID
- 165-901
- Acronym
- 165-901
- Status last verified
- Jan 2020
- First submitted
- 13 Apr 2018
- Last updated
- 14 Jan 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Non-Interventional Observational Study of Pegvaliase-Naïve Adults With Phenylketonuria (PKU): Concept Elicitation and Cognitive Interviews
- ClinicalTrials.gov ID
- NCT03505125
- Acronym / sponsor ID
- 165-901 / 165-901
- Conditions
- Phenylketonuria (PKU)
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 63 participants (actual)
- Lead sponsor
- BioMarin PharmaceuticalIndustry (pharma, biotech, devices)
- Study start
- 31 Mar 2018 (actual)
- Primary completion
- 31 Jul 2019 (actual)
- Study completion
- 31 Jul 2019 (actual)
- First posted
- 23 Apr 2018 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Other
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- 18 to 70 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- 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
Key inclusion criteria (8 listed)
- ≥18 and ≤70 years of age at the time of consent;
- Clinically-confirmed diagnosis of Phenylketonuria (PKU);
- Blood Phe test completed within eight weeks prior to screening date or blood Phe test completed within eight weeks post screening date;
- 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;
- Willing and able to participate in a telephone interview lasting approximately 90 minutes;
Key exclusion criteria (4 listed)
- Currently pregnant;
- Current or previous exposure to pegvaliase treatment or participation in a pegvaliase clinical trial;
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 14 Jan 2020.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Medical Director, MD study director
BioMarin Pharmaceutical
14 sites in 7 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Phenylketonuria (PKU), run by BioMarin Pharmaceutical at 14 sites in 7 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 14 Jan 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 14 sites in United States, France, Germany, Italy, Turkey (Türkiye) and 2 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
PKU Symptom Survey (time frame: 15 minutes). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 14 Jan 2020.