On December 7, 2022, the European Alliance for Patient Access (EAfPA) held a policy roundtable event at the European Parliament entitled ‘Rare Neurological Diseases in the EU – The Importance of Early Diagnosis and Real-World Evidence to Drive Better Patient Outcomes’, focused on rare neurological conditions. Held in collaboration with the European Federation of Neurological Associations (EFNA) and the European Brain Council (EBC), EU stakeholders gathered to discuss the critical need for improved access to care, services, and treatment for people living with rare neurological diseases.  The roundtable event was hosted by Member of the European Parliament (MEP) Tilly Metz who opened the event by giving an overview of the situation of rare neurological diseases in Europe and how many rare disease patients experience a ‘diagnostic odyssey’ before receiving the correct diagnosis.

Despite the success of EU laws, there are significant differences in member states’ access to these medications. The need for an updated framework of EU actions and support for national plans and strategies on rare diseases persists notwithstanding the significant progress shown by the measures currently put in place and the significant investments in addressing the difficulties of rare illnesses.

The potential benefits of European Reference Networks (ERNs), which are virtual networks that link healthcare professionals with expertise in rare diseases across Europe were discussed. ERNs can raise public and professional awareness of rare diseases and complex illness presentations. The ERNs may promote research and development, early diagnosis, and treatment access even more in the future.

Kumaran Deiva from the ERN for Immunodeficiency, Autoinflammatory, Autoimmune and Paediatric Rheumatic diseases (ERN-RITA) provided a clinician’s perspective on the importance of aligning research and real-world evidence for rare diseases and how European Reference Networks (ERNs) can be of use in providing a clinical patient management system which would allow doctors from collaborating centres to submit a case study and to ask for expertise from other doctors. He stated that rare diseases need expertise, understanding of the disease physiopathology, and funding for research and treatment, but all this cannot be complete without the patients’ input.

Christina Kyriakopoulou from the Directorate-General for Research and Innovation (DG RTD) at the European Commission, provided an overview of ongoing and upcoming initiatives of the European Commission in rare diseases such as the European Joint Programme for Rare Diseases (EJP RD), a flagship programme that enabled hundreds of multinational projects on cross-disciplinary research in the area of rare diseases; Solve RD that is meant to speed up and accelerate the diagnosis of rare diseases; and the European Rare Diseases Research Coordination and support Action (ERICA) which brings together 24 ERNs and is a networking coordination on how to facilitate and make a roadmap for more effective clinical research. Christina also mentioned the Screen4Care programme which aims at shortening the path to rare disease diagnosis by using new-born genetic screening and digital technologies; and the European Partnership on Rare Diseases (RDP) which aims to consolidate a European research and innovation ecosystem for rare diseases to reduce fragmentation and to make Europe a leader in development of health innovation for rare diseases.

Els Roelandt from the Sumaira Foundation gave a personal testimony on the urgency of early diagnosis from a patient perspective, living with a rare neurological disease, Neuromyelitis Optica Spectrum Disorders (NMOSD) explaining that without a proper diagnosis she did not have access to approved treatments and that it can be risky as being prescribed inappropriate medication can worsen the disease, increase relapses and decrease recovery.

Orla Galvin from European Federation of Neurological Associations (EFNA) then presented data from an EFNA survey, the findings of which related to the need for learning from patients and caregivers through the generation of Real-World Data to support a timelier diagnosis. The majority of rare neurological condition respondents required an appointment with condition specific specialist, many requiring more than 5 specialists- some more than 10 to obtain a diagnosis. Similarly, for clinical site visits some respondents had to travel across Europe to obtain a correct diagnosis with 40% of respondents indicating that it took them more than a year, and some waiting many years for their diagnosis. Orla emphasised it is imperative that people can obtain a diagnosis, independent of the availability of treatment or clinical trials to prepare for their future, and that learning from patients and caregivers through the generation of Real-World Data can support diagnosis. One way of expediting diagnosis is to understand rare neurological conditions better, and can be achieved in part through natural history studies. This gives people living with rare diseases information to prepare for their future but also educates healthcare professionals to make a timelier diagnosis. This in turn expedites access to support services, care pathways and expedites therapeutic innovation. When it comes to ERNs, Orla suggested awareness campaigns are needed as not enough people know about them.

Frédéric Destrebecq from the European Brain Council (EBC) presented two projects: the European Brian Research Area (EBRA) project that aimed to overcome fragmentation and duplication, and aimed for better coordination of brain research across Europe, and the Value of Treatment for Brain Disorders in Europe that demonstrated that the cost of investing in healthcare system needs to be seen as an investment from which society yields a return. This study demonstrated that inaction and lack of investments was having a negative impact on society and that there is value in fostering and improving care pathways. These findings set the scene for EBC to launch a call for a renewed EU action plan on rare diseases providing a practical model to enable an ecosystem for optimising care and research.

Debianka Mukherjee from the European Multiple Sclerosis Platform (EMSP) stated that next to general practitioners, it is also important to sensitise nurses about rare neurological diseases.

MEP Metz concluded the meeting adding patients with rare neurological conditions should have access to accurate, early diagnoses and effective treatments and that the upcoming revision of the Orphan and Paediatric Regulations and the proposal on European Health Data Space can prove important in this regard.

Read the complete EAfPA report here.