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.
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
OBSERVATIONAL
Enrollment
63
University of Florida
Gainesville, Florida, United States
Emory University Department of Human Genetics
Decatur, Georgia, United States
Ann and Robert H Lurie Children's Hospital
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.
Time frame: 15 minutes
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Chicago, Illinois, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Adult Metabolic Diseases Clinic, Vancouver General Hospital
Vancouver, British Columbia, Canada
Necker Children's Hospital
Paris, Cedex 15, France
Bretonneau Hospital, Internal Medicine Department
Tours, Cedex 9, France
University Klinik Jena, Klinik für Neuropädiatrie
Jena, Thuringia, Germany
Rheumatology Unit, Clinic for Inborn Errors of Metabolism
Leipzig, Germany
Hospital of Padova
Padova, Italy
...and 4 more locations