Affordability is not necessarily the main barrier to better rare disease therapy access in Europe. Across the continent, orphan availability correlates poorly with GDP per capita, but strongly with health technology assessment methods, speed of pricing and reimbursement, and central vs regional decision-making. Better system design – rather than simply more money – is key to bridging access gaps in this complex and distinct field.

A Heavy Burden

Around 30 million people in Europe live with a rare disease. On top of the medical impact of often debilitating or life-threatening conditions, rare disease patients and their caregivers must also navigate healthcare systems poorly equipped to help them. These patients often face years of misdiagnoses, severe delays in access to treatment, and a lack of reliable information and care, compounding their problems.

On the diagnosis front the data is stark. As a 2024 Charles River Associates study shows, 25 percent of people living with a rare disease experience misdiagnosis at least once. Moreover, misdiagnosed patients take about 36 months to reach a correct diagnosis (over three times longer than those without misdiagnosis), and patients report 32 percent lower health-related quality of life than the general population, with women particularly strongly affected.

This places a burden on rare disease patients approximately six times higher than on those living with common conditions according to Dana Vigier of Alexion, AstraZeneca’s rare disease arm. “This burden includes the substantial healthcare consumption required to achieve accurate diagnosis, representing hidden costs within healthcare systems.”

For Vigier, who serves as Alexion’s VP and Central and Northern Europe Area Head, the rarity of these diseases (of which around 7,000 are known) creates inherent inequity within healthcare systems, not through deliberate intent but through structural inadequacy.

She adds that “Some general practitioners may encounter rare disease patients regularly, but for any specific condition, they might see no patients in their lifetime or perhaps two annually. This statistical reality makes diagnosis extraordinarily challenging, contributing to the average five-to-seven-year diagnostic journey.”

Uneven Access

Europe’s well-documented struggle to bring new innovative medicines to market and make them available to patients is having an especially strong impact on rare disease patients. The IQVIA/EFPIA Patients W.A.I.T. Indicator 2024 Survey shows that, across the EU-27, orphan medicines (those indicated for rare diseases) are reimbursed less often (42 percent vs 46 percent overall) and reach patients more slowly (in around 611 days vs 578 days), with patients in some countries waiting up to 32 months for orphan drug access.

Moreover, the wealth of the nation in which rare disease patients live seems to have little bearing. Vigier feels that the fact that countries with high GDPs do not necessarily provide superior access to rare disease innovations, “reveals systematic bias that transcends economic capacity. Meanwhile, other countries with much lower GDPs have made rare disease treatment a priority”

For example, in Bulgaria, 56 percent of non-oncology orphan drugs were accessible to patients in January 2025. However, in Sweden – with an economy five times larger than Bulgaria’s and whose people are three times wealthier on an individual basis – just 29 percent of those same drugs were accessible. Other richer nations struggling on this metric include Switzerland (59 percent), the Netherlands (45 percent), and Norway (18 percent). The top performers were Germany (89 percent) and Italy (76 percent).

Understanding Disparities

What is at the root cause of these access disparities? For Vigier at least, the above data shows that “the primary issue is not affordability. Rather, it reflects policy choices and prioritisation decisions embedded within healthcare systems.”

She continues, “Many systems utilise cost-effectiveness methodologies developed in the 1990s and 2000s, based on innovations like hypertension and diabetes treatments that involved trials with 10,000 patients. These methodologies are inappropriately applied to rare diseases, where Phase III trials typically include 50-100 patients, while ultra-rare disease studies may involve only 20 patients. The statistical frameworks designed for large patient populations cannot accommodate the inherent uncertainty associated with smaller study populations.”

The regionalisation of healthcare in some European countries could be adding fuel to the fire. “Systems with regional decision-making create geographic inequities within countries,” adds Vigier. “While this approach may function adequately for common conditions with relatively uniform distribution of the disease, rare diseases may produce several patients in one region, while others will experience none over several years, creating treatment disparities based on the decision-making autonomy of each region when it comes to treatment decisions.”

Solving the Puzzle

How can these access gaps be closed and – given that affordability alone does not seem to be the primary barrier to access – what could the likes of Norway and Sweden learn from Bulgaria? Over at Alexion, which already has seven approved rare disease therapies on the market in Europe, it is all about new and separate financing frameworks which recognise the distinct characteristics of these diseases.

“We advocate for clear recognition of rare disease specificities in assessment frameworks, particularly when comparators are 60 years old or non-existent,” says Vigier. “Additionally, we support independent national funding for patient advocacy groups, enabling them to maintain independence while strengthening their voice in healthcare policy discussions.”

Vigier concludes. “The broader regional objective involves helping stakeholders understand that rare diseases require separate frameworks for value assessment, patient organisation support, and budget allocation. We view rare disease patients as a healthcare minority with unique needs, requiring specific protection against systemic inequity. This includes ring-fencing budgets specifically for rare diseases, establishing dedicated assessment frameworks, and ensuring equity across countries by minimising decision-maker proliferation. Every patient should receive equitable treatment regardless of geographic location within their country.”

Europe’s rare-disease access gap is, therefore, less a question of national wealth and more about the rules used to judge value. Countries that ring-fence budgets, apply orphan-appropriate HTA, speed pricing and reimbursement timelines, and route patients to specialist centres consistently do better, regardless of GDP. When that is paired with early-access pathways, independent patient-group funding, and clear referral and genetic testing policies, the burden eases – suggesting the way forward for greater equity of access.