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Study conducted by the European Brain Council on the value of early coordinated care for patients affected by rare neurological diseases


Motivated by addressing the existing gaps in care coordination, in 2018 the European Brain Council, an organisation promoting research on brain health and disorders in Europe, initiated a two-year study. The study focuses on the value of early diagnosis and intervention for rare neurological diseases, with the aim of assessing the benefits of coordinated care and multidisciplinary care patterns on patient outcomes.

Rare neurological diseases (RNDs) collectively exert a public health burden in terms of their manifestations’ severity and the total number of people afflicted across their lifespan. According to the European Reference Network on Rare Neurological Diseases, in Europe there are 500,000 people living with RNDs, while 60% of those affected are still undiagnosed due to significant phenotype and genotype heterogeneity in clinical presentation and disease course (source: ERN-RND). Health systems face significant challenges in responding to patients’ needs and guaranteeing equal access to treatment. Most rare disorders are of genetic origin. Many patients face considerable barriers exist in terms of access to appropriate care, delayed diagnosis, and treatment options. When patients are diagnosed, many are unable to access resources such as centres of expertise (or specialist centres), coordinated care, patient support systems, and effective treatment (source: Eurordis). Treatment of chronic RNDs has become increasingly multifaceted and comprises either disease-modifying drugs with different mechanisms of action, symptomatic therapies or other supportive therapies, or surgical procedures such as deep brain stimulation. While some countries coordinate their approach to rare disease management using comprehensive specialist centres, many countries do not, either because they have not yet adopted this approach or are employing different strategies.

The Value of Treatment study analyses the treatment gaps or barriers to care and their underlying causes along the whole care process. The research framework is designed by the European Brain Council Board in collaboration with academic partners. Discussions on healthcare focus too often on the increase of healthcare costs rather than on the benefits of better health. Therefore, the study emphasises the need for more value-based and patient-centred care. The study, based on the conclusions of a previous EBC pan-European study (2017), The Value of Treatment for Brain Disorders – Policy White Paper, which called for early interventions and a more seamless management of brain diseases, is now focusing on RNDs, aiming to include case studies on ataxia, dystonia, and phenylketonuria. Hundreds of experts from the European Brain Council and the European Reference Networks (ERN-RNDs and MetabERN) have worked together to analyse case studies in line with the research framework, applying empirical evidence from different European countries.

The results of this research project are to be released in mid-2021. We aim to analyse patient views and assess the cost-effectiveness of specialist centres for managing care of people with ataxia or dystonia in several European countries. We plan to analyse the cost-effectiveness of metabolic care units for people with phenylketonuria to reduce drop-outs, encourage sufferers to strictly follow the phe-free diet, and improve overall health outcomes. Our aim is also to examine the role of national policies and programmes, including National Rare Diseases Plans, on the effective implementation of coordinated comprehensive services targeting ataxia, dystonia, and phenylketonuria.