‘Shaping the Future: Policy Responses to Rare Neurological Challenges’

February 19, 2025 | European Parliament, Brussels

On February 19, 2025, a meeting of the MEP Interest Group on Brain Health and Neurological Conditions took place, hosted by MEP Billy Kelleher (Renew Europe, Ireland) at the European Parliament, Brussels.

Entitled ‘Shaping the Future: Policy Responses to Rare Neurological Challenges’, the event’s main objective was to improve understanding of the lived experience of those impacted by rare neurological conditions and to highlight policies that must be implemented to improve quality of life, and drive progress in the development of innovative treatments for these conditions and equitable access to them.

MEP Billy Kelleher opened the meeting by reminding us that although they are rare, rare neurological conditions are many when considered collectively. He mentioned that stakeholder engagement for rare disease had not been as it should be, and as such requires advocacy at policymaker level. Fortunately, we are in the era of developing a European Health Union. Mep Kelleher is optimistic that Olivér Várhelyi, the new European Commissioner for Health and Animal Welfare, is keen to deal with this task. The concept of a European Health Union has grown out of the response to the COVID-19 pandemic, including research development, procurement and distribution. MEP Kelleher highlighted that when we use our collective capacity in a positive way; pooling our resources, we can do great things! In the rare disease space this is particularly necessary. No small member states will have the population, or infrastructure in terms of number of clinicians, to deal with every rare disease. We must build on the European Reference Networks (ERNs) and improve capacity across Europe so that no patient is left behind in terms of diagnosis and support.

A European Health Union will address diversifying supply chains, improving access to the most advanced treatments, boosting the competitiveness, resilience and security of health systems and working on strategic inventories.

Citing The Draghi report on EU competitiveness- MEP Kelleher stated that Europe is not competitive enough and we need to invest more in research, with rare neurology in particular needing huge investment in research and development.

Moderating the patient input, Astri Arnesen, (President, EFNA) opened discussions, noting that in these times of political turmoil, it is necessary that we as NGO’s can facilitate dialogue with policy makers and decision makers. Critically Astri reminded us there are over 400 rare neurological conditions and that within rare diseases as a whole, 75% result in symptoms that are neurological in nature. Importantly she emphasised that we need policymakers, and they need us to make wise decisions. We need to and can do better.

Dr. Orla Galvin (Executive Director, EFNA) said it was timely to discuss rare neurology ahead of rare disease day, and with impending revision to HTA regulations in Europe. In terms of what MEPs can do to support improvements in this space, Orla called for MEPs to join the neurology patient voice by becoming a member of the MEP Interest Group on Brain Health and Neurological Conditions; and to sign the Call to Action for Rare Neurology . Orla highlighted certain points from the Call to Action such as the need for better use of national history studies, moving beyond randomised controlled trials, embedding European Reference Networks at national level and ensuring that revisions to the pharma legislation and use of the European Health Data space are fit for purpose for rare neurological conditions.

Orla reminded us that the rare neurology Call to Action does not have novel concepts. It is based on the rare 2030 recommendations and the WHO’s 10-year intersectoral global action plan on epilepsy and other neurological disorders, which all EU countries have adopted, but implementation is essential for impact. While some may refer to health as a national competency Orla noted the intersectoral nature of the IGAP and the CTA indicate where European policies can have valuable positive impact on quality of life.

Setting the scene for the current state of play, Orla showed the below graphs, indicating the disparity in the rate of availability and time to availability for non-oncology orphan medicinal products.

It is clear we do not have an equitable European Health Union, particularly for rare neurological conditions. Orla noted that to improve patient outcomes the onus is not only at national level, Pharma have a role to play too, and policies such as the cross border directive need to be user-friendly. Orla said we need to act now to ensure we are prepared for the revisions to HTA regulations and joint clinical assessment coming in to effect for Cancer Medicines and ATMPs January 12^th 2025, Orphan Medicinal Products January 13^th 2028 and all new medicines January 13^th 2030. Many ATMPs could have benefits for rare neurological conditions, and it is not easy to be the first going through these revisions. The majority of treatments for rare neurological conditions fall under the orphan category, which we have a small amount of time to get right before January 2028.

In the first panel discussion, we heard from:

Arabela Acalinei, European Alliance of Neuromuscular Disorders Associations (EAMDA) – Romania, who lives with Charcot-Marie-Tooth; a condition which impacts the peripheral nervous system, meaning movement, family and social life are affected. Arabela informed us diagnostics and treatment have misaligned policies; in many cases treatment is available but there is a pile-up of diagnostics waiting to be confirmed. For neuromuscular disorders there are huge differences between western and eastern countries. EAMDA are working to improve this by establishing a newborn screening coalition, because for some conditions, such as SMA, a late diagnosis means there is little that can be done. Arabela called for improved diagnostics regulations and policies, noting that drug regulation does not address diagnostics.

Next, we heard insights on ERN-RND (European Reference Network on Rare Neurological Disorders) from Dr. Holm Graeßner, (ERN-RND)-Germany.

Dr. Holm Graeßner commented on the positives of the ERNs as a successful European collaboration providing good care, cross border care for patients, training for experts, and collecting data which is necessary for research. However, more work needs to be done to ensure integration into national healthcare systems. While ERNs are a very good building block, success in Europe requires more funding to support research which could also be used for HTA purposes, and funding to sustain these services which expedite time to diagnosis.

Jose Ángel Aibar, is a parent to a son with a rare form of epilepsy called Dravet Syndrome, which along with seizures leads to many developmental challenges. He described the diagnosis as having a whole family impact, often requiring one parent to leave the workforce and takeover as care provider full time. When it comes to rare neurology, genetics often comes into question and it is important to note that just because the cause is genetic, it does not mean the condition is hereditary, such as in this case, where the mutation can occur de novo. Jose called for an increase in funding for research and supported the impact of ERNs noting that they are empowering to patient communities.

MEP Ondřej Dostál (Non-attached member, Czech Republic), stated that the SANT committee support the work of patient organisations to help patients with access issues, noting this starts with primary care, HTA and reimbursement. MEP Dostál referred to Europe’s competitiveness and said this includes Europe having public health systems.

In the second panel discussion, we heard from:

Merete Avery, based in Norway and representing Dystonia Europe. Dystonia manifests with uncontrollable movements which can affect the entire body or parts of the body. Education and work are often impacted. With treatment Merete can work 50% and has improvement in quality of life. Without diagnosis, many people experience pain and social withdrawal and don’t know what is happening to their body. Merete described how difficult it can be to receive a diagnosis due to stigma and lack of understanding. People sometimes say you are doing it yourself (making uncontrolled body movements), that children will grow out of it, that it is in your head, that it is a mental health condition.

Merete called for greater awareness among clinicians, particularly for patients transitioning from pediatric to adult services. Fortunately, with new treatments for children, they now reach adulthood when historically they would not have survived. Clinicians need to know how to treat these adults.

Similar insights on Myasthenia Gravis were shared by Lut Allard, representing the European Myasthenia Gravis Association. Lut also highlighted the gender differences in accessing a diagnosis, with a delay of 5.3 years for women and 1.8 years for men. Women are perceived as hysterical and not believed. This is added to concerns regarding potential impact on children, losing their partner, losing their job, social withdrawal and what many of us take for granted- the ability to swallow. Lut called for greater awareness and education for patients, caregivers and Health Care Professionals.

The final patient insights came from Jean-Philippe Plançon, European Patient Organisation for Dysimmune and Inflammatory Neuropathies (EPODIN).
Based in France, Jean-Philippe indicated DINs can be acute (for which 5-7% die) or chronic. He noted early diagnosis is very important as treatment can manage, but not cure, the condition. He agreed that access is variable depending on where you are from. Plasma derived medicinal products are essential for treatment, and the supply chain of plasma is challenging and complex. New regulations need to factor in the lack of 500million litres of plasma in Europe. At present we need to outsource to the US.

Reflections on the morning’s discussion were shared by MEP Tilly Metz (Greens/EFA, Luxembourg), MEP Tomislav Sokol (EPP, Croatia), MEP Margarita de la Pisa Carrión (PfE, Spain) and MEP Romana Jerkovic (S&D, Croatia).

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