Translating Global Policy Commitments into Meaningful Change for People Living with Rare Diseases

Written by: Christophe Hotermans, SVP, Head of Global Medical Affairs & Soraya Bekkali, SVP, EUCAN and International Business

Scientific advances in rare neurology have transformed lives around the world, yet significant gaps in care persist.

Diagnostic delays, fragmented care pathways, uneven access to specialist and multidisciplinary care, under-recognised treatment burden, limited use of patient-reported outcomes and inequitable access to innovation continue to prevent healthcare systems from delivering these advances to everyone who needs them. Behind each gap are people navigating profound uncertainty and disruption – a reality that must remain at the centre of how we define the problem and the solution.

That is why Alexion is working closely with leading neurology organisations like the European Brain Council (EBC), alongside scientific societies, clinicians, patient advocates, researchers and industry stakeholders to turn global policy commitments – including the World Health Organisation (WHO) Intersectoral Global Action Plan on Epilepsy and Other Neurological Disorders and the World Health Assembly (WHA) Resolution on Rare Diseases – into tangible improvements in rare neurology care. In line with the principles of EBC’s Rethinking Myasthenia Gravis, we believe meaningful change is achieved when solutions are co-created with the communities they are intended to serve, ensuring lived experience directly shapes how policy translates into better care.

The Gaps Between Policy and Practice

While these initiatives have raised the profile of neurological and rare diseases as global health priorities, ambition on paper does not automatically improve care at the bedside. For instance:

• In the European Union, patients wait an average of 597 days after marketing authorisation before a new rare disease medicine becomes available, with some countries waiting years longer than others.
• Only a third of WHO member states have national policies or frameworks addressing neurological disorders, and just a quarter include these conditions in universal healthcare benefits packages.

The gap is clear – scientific progress and health-system readiness do not always move at the same pace. As research creates new possibilities, healthcare systems must evolve with speed so advances can reach patients equitably and in time.

gMG as a Case Study

Generalised myasthenia gravis (gMG) illustrates this gap. Scientific understanding has advanced significantly over the past decade, and success is no longer defined by symptom control alone but by rapid, continuous disease control, better tolerability, reduced treatment burden – including burden associated with prolonged steroid exposure – and the restoration of quality of life.

Even so, nearly one in five patients undergo eight or more consultations before they receive a correct diagnosis. Fragmented pathways and unequal specialist access then complicate ongoing management, blunting the real-world value of clinical innovation.

Implementation is now the central challenge: earlier diagnosis, stronger referral networks, better coordination and improved specialist access are essential to closing global health equity gaps in rare neurology.

Harnessing Evidence to Drive Change

System-wide change requires evidence showing where care breaks down and which interventions deliver the greatest benefit. Alexion is contributing that evidence across three priority areas:

1. Earlier recognition and referral

   Quantifying the value and benefit of faster rare disease diagnosis for patients, systems and society.

2. Coordinated, multidisciplinary care

   Supporting community-led initiatives, including Rethinking Myasthenia Gravis, which examines where pathways fragment and how optimising care pathways improves quality and economic sustainability.

3. Patient-relevant outcomes and holistic burden assessment

   In partnership with patients and patient organisations, measuring the personal, economic and societal impact of gMG effects on functioning, mental health, caregivers and productivity that clinical scores alone cannot convey. Because those living with gMG should help define which outcomes are measured and what meaningful improvement looks like.

From Global Goals to Country Coordination

Scientific progress and policy momentum have created an opportunity to transform care for people living with rare neurological diseases like gMG, and global commitments reinforce the groundswell of support behind this cause.

Implementation is the shared responsibility of policymakers, societies, advocacy organisations, industry and other stakeholders. Progress will ultimately be judged not only by modernised health systems and streamlined care pathways, but by the tangible patient impact – faster diagnosis, equitable access, reduced treatment burden and a greater ability for people living with rare neurological diseases to live well. We look forward to continuing our multi-stakeholder work to make this ambition a reality.

Interested in Learning More?

Experience the resilience and strength of three individuals living with gMG. Watch their stories at RareConnectionsFilms.com