Description
14 papers were highlighted in our literature highlights. The first paper by Harding et al. demonstrated that long-term pegvaliase substantially and durably decreased blood Phe levels, with 71.3% achieving a clinically significant blood Phe reduction of ≤600 µmol/L. Burton et al. showed that pegvaliase induced a sustained reduction in target blood Phe concentrations compared with medical nutrition therapy, with or without sapropterin. Rocha et al. highlighted that there is an unmet treatment need due to the limitations and burden of long-term reliance on medical nutrition therapy.
The paper by Rohr et al. showed that pegvaliase reduced reliance on medical protein, and another paper by Thomas et al. demonstrated that sustained reductions in blood Phe and a manageable safety profile were observed in patients in the PRISM trials. Furthermore, Viau et al. highlighted that adults transitioning to an unrestricted diet, whilst taking pegvaliase, maintained adequate nutritional status. Bjoraker et al. and Krämer et al. developed 28 best practice recommendations to manage anxiety in PKU and 25 practical consensus recommendations to support centres with the implementation of pegvaliase, respectively. Bilder et al. and Trefz et al. showed that PKU is associated with a broad range of neuropsychiatric and neurologic complications, and executive function deficits and that adult PKU patients face disease burden and additional comorbidities.
Another paper by Bilder et al. supported the inclusion of neuropsychiatric screening into routine care and suggested improved access to mental health professionals who can assist with PKU management and burden. Moreover, Enns et al. concluded that suboptimal outcomes exist in PKU patients treated with diet alone, and Rocha et al. developed an initial roadmap of recommendations for dieticians. Finally, Burlina et al. provided a comprehensive set of guidelines for PKU management and pharmacotherapy in Italy that offers a structured approach to pegvaliase treatment.
