The European Brain Council (EBC), in collaboration with Neurofibromatosis Patients United (NFPU), is pleased to launch the ‘Rethinking Neurofibromatosis Type 1’ project on the occasion of EBC’s Rare Disease Day event, held on February 24th, 2026 in Brussels. 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, develop chronic pain or life threatening tumors, amongst a large variety of other potential symptoms.

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.

This project is supported by Neurofibromatosis Patients United (NFPU). All outputs are non-promotional and not specific to any particular treatment or therapy.

The European Brain Council (EBC), in collaboration with the Institute of Management of Scuola Superiore de Sant’Anna, is pleased to launch the ‘Rethinking Myasthenia Gravis’ Advocacy Paper on the occasion of EBC’s Rare Disease Day event, held on February 24th, 2026 in Brussels. Rethinking Myasthenia Gravis (MG) is a research-driven project that will offer policy recommendations to make tangible changes with the aim to improve the lives of people living with Myasthenia Gravis across Europe.

About Myasthenia Gravis

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.

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.

About the 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. MG can serve as a test case for how Europe organises care for rare diseases—demonstrating how coordinated, patient-centred systems can be built. Strengthening MG care pathways and policies will not only benefit those living with MG but also help advance more inclusive approaches for other rare neurological and neuromuscular disorders. Together, we can turn high-level commitments into tangible improvements for people living with MG and those who care for them every day, by acting on the recommendations set out in this paper.

Key Recommendations

• Reduce diagnostic delay and misdiagnosis

• Embed multidisciplinary, brain health-oriented care pathways

• Ensure equitable, evidence-informed access to innovative therapies

• Address socioeconomic and psychosocial burden for patients and caregivers

• Harness digital tools and data for better MG management

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. Neither company provided content input to this publication, and it does not represent an official endorsement by Alexion or UCB.

On February 28, marking the 2025  Rare Disease Day, the European Parliament's Public Health Committee (SANT) kicked off its survey on rare diseases. 

The purpose of this public consultation is to provide a basis for the forthcoming work of the Committee in bringing a better understanding of the challenges of persons affected by rare diseases and views of persons working with or involved in rare diseases. 

The European Brain Council welcomes this initiative, as it demonstrates the SANT Committee's willingness to engage more on this crucial matter, echoing the calls from the community to place rare diseases higher on the EU health policy agenda. 

Despite progress, challenges persist for the 30 million individuals living with rare diseases in Europe. Notably, 70% of rare diseases begin in childhood, and the majority present neurological symptoms, contributing to immense unmet needs. Most of the over 6,000 rare diseases catalogued by Orphanet are of genetic origin. 

 Key challenges include: 

• High psychosocial and mental health impact on people affected by rare diseases and families. 

• Gaps in social care, heightened uncertainty during diagnostic odysseys, and decreased quality of life. 

• Limited understanding of disease mechanisms and heterogeneity of rare diseases. 

• Lack of biomarkers and limited therapeutic options. 

• Small patient populations and delayed diagnostics. 

• High cost of drug development and inequities in access to care. 

It is important to mention rare neurometabolic disorders, as many are treatable, particularly if diagnosed early, highlighting the critical role of timely recognition and intervention. Addressing these challenges requires a comprehensive approach that integrates medical, social, and policy interventions to enhance patient outcomes and quality of life. 

Furthermore, lessons learned from the Covid-19 pandemic underscore the urgency of strengthening digital health solutions and future-proofing health systems against similar circumstances. 

The European Brain Council (EBC), in collaboration with the Institute of Management of Scuola Superiore de Sant’Anna, was very pleased to launch the ‘Rethinking Myasthenia Gravis’ project on the occasion of EBC’s Rare Disease Day event, held on February 20th in Brussels. Rethinking Myasthenia Gravis (MG) is a research-driven project that will offer policy recommendations to make tangible changes with the aim to improve the lives of people living with Myasthenia Gravis across Europe.

About Myasthenia Gravis

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.

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 will first focus on highlighting 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, such as, 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.

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.

Magda Chlebus, Executive Director Scientific & Regulatory Affairs of the European Federation of Pharmaceutical Industries and Associations (EFPIA) closed the first session introducing the Rare Disease Moonshot – a successful example of public-private partnership aiming to accelerate research in rare diseases and its translation into new effective therapies. In her intervention, Magda Chlebus shed light on neurofibromatosis: with just one treatment, for just one type, on the market, the disease is the perfect example of how less fragmentation and more collaboration are highly needed to better leverage existing resources and fill gaps in the space. 

The second session turned the focus to patient and caregiver priorities, with a personal testimony from Tim Buckinx, Founder & CEO of Epihunter, who lives with Evans syndrome and has a son with a rare epilepsy. In his contribution, Tim Buckinx stressed the emotional, social and financial dimensions surrounding rare diseases: the uncertainty of the future, the isolation of families, the need for mothers to stop working. Epihunter, which offers digital therapeutics for absence seizures in epilepsy, fulfils a wish of his son: “can you create a light that turns on when by brain switches off?” 

Matt Bolz-Johnson, Patient Advocate at EURORDIS, drew attention to the impact of mental health conditions in rare diseases and called for more research in the field, more psychosocial programmes for people with a rare disease and more psychologically informed clinical care. Through its Mental Health and Wellbeing Partnership Network, EURORDIS aims to unite and empower the rare disease community affected by mental health problems – the network includes experts from 27 countries and is connected with 10 European Reference Networks. 

Orla Galvin, Executive Director of the European Federation of Neurological Associations (EFNA), closed the session addressing rare neurology – a quarter of EFNA’s members being either dedicated to rare conditions or embedding rare neurology in their communities – and the efforts made to better meet patient needs. Through a Rare Neurology Charter, EFNA calls, notably, for more research funding and increased education in rare neurology as well as a multi-disciplinary approach and the recognition of the value of precision medicine and care. 

Focused on industry innovation trends, the third session featured an intervention from Matthias Heck, Head of the EU Government Affairs & Strategic Alliance Development at Alexion Astra Zeneca Rare Disease, who raised awareness on NeuroMyelitis Optica Spectrum disorder (NMOSD) and Myasthenia Gravis (gMG) stressing the lack of good data. By supporting the EFNA Rare Neurology Charter, Alexion contributes to advocacy efforts for increased recognition of the burden surrounding rare brain diseases and policy changes. 

Juan José Fernández Romero, Lead of Government Affairs EMEA at Amylyx Pharmaceuticals, drew attention to Amyotrophic Lateral Sclerosis (ALS) and its complexities, shedding light on the European ALS Coalition, which aims to collaborate with existing EU ALS organisations for the translation of the needs of people living with ALS through optimised diagnostic, matched care and better prognosis – notably, through the organisation of national roundtables. 

Moderated by Vinciane Quoidbach, Research Project Manager at the European Brain Council, session four invited panelists to explore clinical care pathways for rare diseases in Europe, in discussion with Paola Giunti, Professor and Head of the Ataxia Centre at the Department of Clinical and Movement Neurosciences at University College London (UK) ; Anita MacDonald, Consultant Dietitian in Inherited Metabolic Disorders at Birmingham Children's Hospital (UK); and Giuseppe Turchetti, Co-Founder of the Institute of Management at the Scuola Superiore Sant'Anna (IT).  

Paola Giunti took the floor to outline the case of ataxia within the EBC Value of Treatment project, which aims to explore the differences in healthcare pathways and costs between specialist and non-specialist care for progressive ataxia in adults. The study also demonstrated the importance of receiving a specific diagnosis, knowing that for ataxia only, there are more than 100 genetic disorders. 

Anita MacDonald addressed the challenges faced by people living with phenylketonuria (PKU) and the priority areas to focus on – notably care pathways, resources, treatment access, monitoring and co-morbidities. In terms of solutions, her toolbox includes patient and public involvement, shared care pathways, patient registries and lower drug costs. 

Giuseppe Turchetti stressed the role of patient care pathways in the translation of European Reference Networks in national healthcare systems and the potential of digital tools in advancing the patient-doctor relationship. The Value of Education project, part of the Value of Treatment initiative, aims to investigate unmet needs in the use of digital tools and listen to the voice of patients and clinicians – notably by engaging patients associations. Results of a survey show the value of digital tools for an effective flow of information and communication between families and healthcare professionals. 

The final session turned to unmet needs, with perspectives from Anna Jansen, Paediatric Neurologist and Board Member of the European Paediatric Neurology Society (EPNS) and Michelangelo Mancuso, Neurologist and Co-Chair of the Coordinating Panel on Rare Neurological Diseases of the European Academy of Neurology (EAN). 

Anna Jansen called for more trainings on rare neurology across the lifespan and highlighted the need to integrate rare disease care in existing health systems as well as the need for holistic, comprehensive care of rare diseases. She also welcomed multistakeholder participatory research in the field, to make sure that priorities set in research are aligned with those of the community, especially in paediatric disciplines, where diseases are often chronic, such an approach is a potential game changer.  

For Michelangelo Mancuso, transition is one of the goals to achieve. He also stressed inequities at both national and EU level – notably in terms of tests available and reimbursability, the huge need for newborn and prenatal screenings, and the importance of bringing key stakeholders together. On Rare Disease Day 2023, an editorial on key priorities to achieve in the next few years was released in the European Journal of Neurology.

After a fruitful open discussion engaging the audience, Frédéric Destrebecq brought the meeting to a close, highlighting the significance of the interventions held throughout the programme towards a rare brain disease ecosystem gathering brilliant ideas to translate into impactful projects.