Case-control study about the acceptance of Pegvaliase in Phenylketonuria

• Main Author: Johannes Krämer
• Format: Article
• Language: English
• Published: Elsevier 2020-03-01
• Series: Molecular Genetics and Metabolism Reports
• Online Access: http://www.sciencedirect.com/science/article/pii/S2214426919302290

Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age. The pegylated phenylalanine ammonia lyase is isolated from bacteria and therefore provokes multifarious immunogenic reactions. Thus, the selection of the right patient for a potential harmful treatment is essential for patient's contentedness and long-term therapy compliance. Methods and results: 101 patients with PKU were screened for eligibility for an additional treatment with Pegvaliase. 51 patients were included in the study, 26 received a structural information about the new treatment for in mean 43 ± 12 min and clinical data and plasma Phe-levels were assessed. After 4 weeks of consideration the willing of treatment initiation as well as reasons for denial are registered. 7 patients (27%) concluded in beginning of treatment. Phe-level in this (acceptance) group were higher (1180 ± 231 μmol/l) compared to the denial group (930 ± 278 μmol/l, p = .01). After 4 weeks Phe-levels in the acceptance group remained stable (1264 ± 311 μmol/l, p = .26) while Phe-levels in the denial group decreased (779 ± 226 μmol/l, p < .01). Main reasons for denial of therapy were fear of adverse effects (47%), no need for additional treatment (26%) and the subcutaneous way of application (21%). Conclusion: PKU patients have reservations against an invasive subcutaneous treatment for their disease. This is mainly caused by the form of application by syringe and the potential harmful side effects. Only less than one-third of the patients in our cohort are willing to start treatment. Besides that, most PKU patients seem to have untapped potential for self-contained reduction of Phe-levels only by being focused on their diet. Keywords: Metabolism, Phenylketonuria, Pegvaliase, Nutritional therapy, Phenylalanine