Psychosocial Impact and Residual Resource Needs Following Institution of Enzyme Substitution Therapy for PKU

Abstract

Background: Phenylketonuria (PKU) is one of the most common inherited metabolic disorders and the first to be included on newborn screening. Even treated, it can impact quality of life (QoL) due to strict dietary management and potential for neuropsychiatric symptoms including anxiety, depression, and impaired executive functioning and attention. This study aims to learn about the impact the newest treatment for PKU – pegvaliase, an enzyme substitution therapy – has on QoL and to assess the residual support and resource needs of patients taking it. In clinical trials, pegvaliase was shown to improve certain neuropsychiatric symptoms. No research is currently published on the impact of pegvaliase on overall QoL or residual support and resource needs. Methods: Adults who have PKU were surveyed, including adults who are and are not taking pegvaliase. Survey questions assessed current management, overall QoL, QoL PKU-related, and currently utilized resources and supports and remaining needs. Standardized questions assessing depression and cognition were also included. Responses were compared by whether the respondent was taking pegvaliase and whether their phe levels were above or below a set threshold. Results: Significant differences were found in satisfaction with management, impact of PKU, general satisfaction with life, and cognition when comparing by phe level. When comparing by pegvaliase status, a significant difference was only found in satisfaction with management. Residual resource and support needs predominantly involved social, financial, and adult-specific needs, although many respondents reported utilizing supports or resources in these domains. Conclusions: The knowledge gained by this study is relevant to public health and genetic counseling by adding to the existing literature on QoL related to PKU, specifically related to use of pegvaliase and phe levels. Phe level seemed to have the most robust impact on QoL, although pegvaliase use was shown to improve QoL to a degree – likely related to its ability to lower phe levels. PKU-related worries seem to have a similar impact on QoL regardless of management, and should be a focus for future care. Ensuring that adult patients are aware of available supports and resources is also important in filling residual needs reported in this study.