The title of the project: A Cross-European Study of Access to Care, Psychosocial Burden and Unmet Needs Among Patients Living with Neurofibromatosis Type 1. The project officially kicked off during EBC’s Rare Disease Day 2026 event, ‘Advancing the Rare Brain Disease Ecosystem‘.

About Neurofibromatosis Type 1 (NF1)

Neurofibromatosis is a rare genetic disease, that includes three different diseases that affect over 250,000 people in Europe. All are genetic diseases that can cause the growth of tumors on the nerves anywhere in the body, with severe consequences. Patients can go blind, deaf, develope chronic pain or life threatening tumors, amongst a large variety of other potential symptoms. Until now there is no cure for any of the three diseases.

The primary aim of this study is to generate in-depth, pan-European evidence on the challenges and barriers to accessing care, as well as the psychosocial burden, quality of life and unmet needs experienced by people living with neurofibromatosis type 1 (“NF1”) and their caregivers. The study aims to capture the experience of both children and adults. The survey will be co-designed with patient representatives and clinical experts who will be part of the established Expert Advisory Group to ensure it reflects real-life concerns and lived experience.

A particular focus will be placed on the transition from paediatric to adult care – a widely recognised vulnerability point for NF1 patients. Despite increasing awareness, this transition often remains poorly managed, leading to gaps in care continuity, delayed treatment, and additional psychosocial stress for both patients and families. By systematically mapping these barriers and unmet needs, the study seeks to inform policy makers and healthcare planners at both national and EU levels, while also equipping patient organisations with robust data to strengthen their advocacy and support strategies.

Neurofibromatosis Patients United (NFPU) is the European Neurofibromatosis umbrella patient association. Neurofibromatosis patients all around Europe face very similar challenges: limited access to proper medical an psychological care, limited access to information, limited access to clinical trials, little awareness in the general public and also limited awareness among health care professionals. These challenges are easier to overcome together. For that they built a strong joined European association. European NF patient organisations need to exchange ideas and best practice models constantly. If they choose the best ideas, have and develop a common strategy and implement this strategy together all over Europe, they can save a lot of resources, while maximizing the impact of their activities.

The European Brain Council, in close collaboration with the European Paediatric Neurology Society (EPNS) and the European Association of Neurosurgical Societies (EANS) and as well as in partnership with an academic partner (to be identified), will articulate the study according to three phases to be rolled out according to the project timelines. The European Reference Network on Genetic Tumour Risk Syndromes (ERN GENTURIS) will also be involved as the network focuses on Neurofibromatosis, along with other genetic tumor risk syndromes and it specifically works on Neurofibromatosis type 1 (NF1) and related conditions.

This project is supported by Neurofibromatosis Patients United (NFPU).

Brain disorders – neurological and mental alike – are widespread, highly disabling and often difficult to treat. Approximately 60% of the European population lives with a neurological condition. Prior to the onset of the COVID-19 pandemic, mental health problems already affected around 84 million people in the EU, amounting to one in every six citizens. These conditions represent a high individual, social and economic burden and contribute to the global disease burden and disability.

The brain is an incredibly complex organ. Understanding how the brain works, how brain diseases progress and finding treatments and cures for these diseases is a long-term endeavour and investment and support is crucial. Brain research is highly interdisciplinary, requiring the use of a wide range of research techniques, based on different models – human, artificial, digital and, predominantly, animal – which remains essential for progress in this domain.

The European Brain Council, in collaboration with member and like-minded organisations, has launched a Pledge for Science: Brain Research and Innovation in the EU in response to policy developments, particularly those with possible implications for health and research – including a recent European Citizens’ Initiative on “Save Cruelty Free Cosmetics – Commit to a Europe Without Animal Testing”, which received over one million signatures, triggering a public hearing in the European Parliament (which took place on 25 May 2023). EBC issued a separate statement on this – available here.

Brain research and innovation must therefore be recognised, more than ever, as a health and research priority in the EU. The scientific community calls upon national, EU and international policymakers to support the development of a European Brain Research and Innovation Plan, combining research and public health initiatives to address brain function and disorders in a comprehensive, collaborative and innovative way.

Rethinking Myasthenia Gravis (MG) is a 2-year multistakeholder research-driven project offering policy recommendations to make tangible changes with the aim to improve the lives of people living with Myasthenia Gravis across Europe. The project officially kicked off during EBC’s Rare Disease Day 2025 event, ‘Towards a Rare Brain Disease Ecosystem‘.

Myasthenia Gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterised by fatigable weakness of voluntary muscles. Myasthenia Gravis (MG), like many other rare diseases, suffers from a lack of wider understanding around the challenges it presents despite affecting over 700.000 people living with MG worldwide. On average, approximately 1 in every 5,000 Europeans lives with this disorder (prevalence) and the rate of new diagnoses varies, ranging from about 1 in 250,000 to 1 in 33,000 people each year (incidence). MG affects both males and females: mainly females before the age of 40 years and males and females equally after the age of 50 years.

There are three groups:
1. Purely ocular Myasthenia Gravis
2. Early-onset (<40-50 years) generalised Myasthenia Gravis
3. Late-onset generalised MG.

For decades people living with MG suffered from inadequate standards of care and the R&D landscape was largely dormant. Recently, there has been an increased influx of attention for Myasthenia Gravis. This is due to both a clearer sense of patient reported unmet needs, as well as the advancements in science in the field of auto immune and neuromuscular diseases such as Myasthenia Gravis. In light of these arising opportunities, such as the expansion of tailored care and treatment, a concerted effort between stakeholders is required to consolidate the current understanding and optimise the management of Myasthenia Gravis for patients and caregivers.

What is the real burden of MG on the society, taking into account the burden for people living with MG, their families and caregivers, the healthcare system, and the different public and private payers? How can care and treatment pathways for MG be optimised from both the patient, their family and healthcare professionals’ perspectives? The project’s will first focus on the assessment of the socio-economic burden of MG, then will address the challenges & gaps of the current care pathway of MG, and finally will design and propose actions to improve the management of MG, like, for example, the optimisation of the patient care pathway, and of the patient /healthcare professionals’ communication & disease perception. The policy recommendations will be developed based on an increased understanding of current gaps in the care pathway, with suggested strategies to pursue the improvement of both the quality and the economic sustainability of MG management.

On the occasion of EBC’s rare disease day event held on February 24th, 2026, EBC, in collaboration with the Institute of Management of Scuola Superiore de Sant’Anna, was pleased to launch the ‘Rethinking Myasthenia Gravis’ Advocacy Paper. This advocacy paper synthesises cutting-edge evidence with the lived experience of patients, caregivers, and healthcare professionals across several European countries. Its message is clear: rethinking MG care requires faster and more accurate diagnosis, robust multidisciplinary care aligned with a brain health approach, equitable access to innovative therapies, and meaningful integration of digital tools and patient-experienced data.

As a follow up to the Advocacy Paper, the project released its policy recommendations during June 2026, on the occasion of Myasthenia Gravis Awareness month. Despite significant advances in diagnostics and treatment, people living with MG continue to face diagnostic delays, fragmented care pathways, unequal access to specialist expertise and therapies, and insufficient recognition of the disease’s wider impact on mental health, cognition, and quality of life. By positioning MG as a practical example of how rare disease and brain health commitments can be translated into action, the Policy Brief aims to support more equitable, patient-centred care across Europe.

The European Brain Council (EBC) is a network of key players in the “Brain Area”, with a membership encompassing scientific societies, patient organisations, professional societies and industry partners. A non-profit organisation based in Brussels, its main mission is to promote brain research with the ultimate goal of improving the lives of the estimated 179 million Europeans living with brain conditions, mental and neurological alike.

The Institute of Management (IoM) conducts research, training, and “third mission” activities across three key areas: innovation, sustainability, and health. IoM’s goal is to advance scientific knowledge internationally and strengthen the nation’s competitiveness, emphasizing social inclusion, stewardship of common resources, and human values on both national and global scales.

The project “Rethinking Myasthenia Gravis” is kindly supported by Alexion and UCB Pharma. All outputs are non-promotional and not specific to any particular treatment or therapy.

Tasked with the forging of global partnerships in brain research during the now completed EBC-coordinated European Brain Research Area (EBRA) project and currently leading global outreach within the Coordination and Support Action (CSA) BrainHealth, EBC has served as a convener over the last years for experts in the brain community to share best practices, exchange ongoing work and align priorities to forge a joint path forward to understand and address the brain rather than in silos across continents.

Brain disorders – encompassing neurological diseases and disorders and mental illnesses – are widespread, disabling, and difficult to treat. It is estimated that up to one billion people worldwide live with a neurological condition and 970 million people around the world were living with a mental health disorder as of 2019, with anxiety and depressive disorders the most common. These conditions represent a high individual, social and economic burden and contribute to the global disease burden and disability. Furthermore, we need to build past the burden and work towards recognising the potentials of brain health. At its best, it allows people to thrive: to live in health and in happiness, to power our labor markets and economies, and to build for future generations.

To work towards explicit and tangible next steps in solidifying global efforts in brain health, EBC has held a series of meetings/events over the last few years to bring together key stakeholders from across the wider brain community – scientific, clinical, economic, industry – and other relevant actors to exchange best practices, report on the state of brain health and research in their respective countries, present on their work and co-create towards further action to place brain health at the top of global policy agendas, all with the aim to showcase the importance and urgency of prioritising brain health across all policies at the global level.