Use of Pegvaliase in the Management of Phenylketonuria: Case Series of Early Experience in US Clinics

This case series examined the early use of pegvaliase in managing phenylketonuria (PKU) in 15 adult patients across US clinics, highlighting the importance of patient education and individualized treatment plans. Despite challenges such as financial issues, treatment adherence, and neuropsychological comorbidities, 12 patients achieved treatment efficacy, defined by reduced blood phenylalanine levels, with a mean time to efficacy of 20.4 weeks. Adverse events, particularly hypersensitivity reactions, were common but manageable with flexible titration schedules. The study emphasized the need for ongoing communication between patients and providers to manage dietary changes and adverse events effectively. Notably, one patient experienced hair loss due to low blood phenylalanine, which resolved with dietary adjustments. The findings aimed to guide clinicians in managing pegvaliase treatment until more extensive data became available.