On the International Phenylketonuria Day 2024, the European Brain Council (EBC) is pleased to publish the ‘The Value of Education: Digital Care Pathways for Rare Brain Diseases. The Case of Phenylketonuria (PKU)’ study insights.

About Phenylketonuria

Rare diseases typically display a high level of symptom complexity and variability. Individuals diagnosed with the same rare disease may be impacted differently and each person’s experience is unique. Phenylketonuria (PKU) is a rare inherited metabolic disorder due to deficiency of the enzyme phenylalanine hydroxylase (PAH) resulting in decreased ability to metabolise the amino acid phenylalanine. In Europe, PKU prevalence is about 10:100,000 newborns with higher rate in Turkey and Ireland, and a very low rate in Finland. High blood phenylalanine (Phe) levels are strongly linked to neurocognitive dysfunction. Untreated PKU can lead to irreversible brain damage and marked intellectual disability beginning within the first few months of life. In most European countries, the national newborn screening (NBS) programs include blood Phe measurement. The aim of NBS is to identify hyperphenylalaninemia (HPA), and this is defined as any blood Phe >120 μmol/L. The early detection of HPA and its treatment can prevent neurological damage. Despite the high and wide application of NBS, there are still late diagnosed patients or undiagnosed patients such as immigrant children born in countries where NBS is absent or not universally applied, or adults born before the introduction of NBS.

About the Research Project

The opportunities offered by data and digital health are multiplying. While barriers remain to unlocking their full potential, we are at an unprecedented moment of change. The European Health Data Space and the AI Act hold the promise of shaping a digital ecosystem that can accelerate the shift towards patient-centred, outcomes-focused, and sustainable healthcare in Europe, and improve patient safety and reduce avoidable harm. Patient care is undergoing a significant transformation, and three key factors – data, patient education and inclusivity – are at the forefront of this change. To gain a deeper understanding of these trends, we examined both patient and provider views. These insights offer a glimpse into the future of patient care.

About the Value of Education

One of the most relevant challenges for healthcare providers and patients during the COVID–19 pandemic has been assuring effective communication channels and ensuring the continuity of care to patients with complex health needs such as people living with rare brain diseases (RBDs). The COVID–19 pandemic accelerated the healthcare sector’s digital transformation agenda. The delivery of telemedicine services instead of many face-to-face procedures has been expanded and, many healthcare services not directly related to COVID-19 treatments shifted online remotely. Many hospitals, specialist centres, patients and families started to use telemedicine because they were forced to. This trend could directly represent a good practice on how care services could be organised and continuity of care could be ensured for patients. If done properly, it could boast improved patient outcomes and become a post COVID-19 major shift in the care paradigm. There is a fragmented stakeholders spectrum, as many questions arise on: what are effective channels of communication and patients’ engagement; how is e-health interacting with ‘traditional’ healthcare providers; if can remote care retain a human touch and stay patient centric.

The overall goal of the project is to understand the needs of increased risk populations (patients with Phenylketonuria) and define the best channels to engage and communicate with them. The project particularly focuses on patients and caregivers.