EBC is happy to recognise and support International Phenylketonuria (PKU) Day, which takes place annually on 28 June — the birthday of two stalwarts of PKU, Robert Guthrie (1916-1995) and Horst Bickel (1918-2000).

The ongoing 2019-2021 Value of Treatment (VOT) project for Brain Disorders and its recent synthesis meeting on 8 June 2021 aimed to provide preliminary findings on the Value of Early Coordinated Care for Rare Diseases, among them Phenylketonuria. The VOT study is a health economics and outcomes research project set up in collaboration with academic partners and coordinated by the EBC that focuses on patient needs, early intervention and coordination of care using the care pathway as a tool at the first step of the research. Optimizing care pathways and harmonizing datasets (health economics perspective) based on a VOT patient-centred approach is proposed.  

PKU is a rare genetic disorder, under the umbrella of inborn errors of metabolism, a disorder in which the body is not able to break down a type of protein called phenylalanine (Phe). PKU is diagnosed as a result of newborn screening. Treatment consists of dietary restriction of phenylalanine and early intervention is key. If left untreated, the increased concentration of Phe in blood and brain can lead to neurocognitive deficits – e.g. severe intellectual disability, epilepsy and behavioral problems. PKU can also compound mental health issues, like feelings of isolation, anxiety, depression and stress. Therefore, guidelines are important to improve diagnosis and management of PKU from a multidisciplinary care perspective.  

The case study on PKU is identifying challenges in delivering care to patients with PKU, including access to monitoring services and provision of support to achieve optimal outcome (using Phe level as a surrogate). Care coordination using the key roles of multidisciplinary teams is considered important for professionals and patients with complex rare conditions, yet research addressing its impact is limited. The case study study addresses a research gap by capturing the views of the patients (surveys and descriptive statistics), clinicians and health economists. An analysis of the cost-consequences of metabolic care unit services for people with phenylketonuria is performed. 

During the synthesis meeting, the live panel event explored the findings so far through focused discussions on how best to address:  

  1. delayed diagnosis;  
  1. barriers to access specialized care and treatment options; and  
  1. the psychosocial burden affecting most productive part of patient’s life 

The research is ongoing, however from the results of the PKU study, early diagnosis through newborn screening (NBS) has enabled timely intervention. However, there are still issues, difficult to address. European guidelines have been delineated, but their implementation is variable across sites (metabolic care unit services) in Europe which is characterized by variability in staffing and resources, genotyping of patients and access to novel therapies. Patients deemed most likely to benefit from novel therapies should have access to novel therapies, but this requires attention to close monitoring and determining the added value of treatment, beyond dietary management alone therefore advocating for resources is necessary to meet the added demands on the service. Overall, where no national guidelines exist, European guidelines should be implemented to ensure that people with PKU have access to the support and care they need. A closer collaboration with the European Reference Networks (ERNs) such as MetabERN should be promoted. 

An EBC position paper will be released on 7 December 2021 to be followed by scientific publications in 2022.