Have rare disease strategies changed rare disease care in Europe?
Having worked on issues in rare diseases for years, we have seen the profound impact these conditions have on patients and families, as well as the dedication of those who support them. Rare Disease Day highlights the challenges these communities face and the critical role of healthcare professionals, researchers, and advocates.
In the rare disease community, the emotional pressures of daily life are immense. Parents and children must become experts in their own conditions, as there may not be a physician in their country who has treated it before. Doctors and nurses, in turn, form close bonds with patients and families, often serving as an extension of parental support. Treatment remains largely symptom-focused, as most rare diseases lack approved treatments. Parents become fundraisers, researchers, or pharmaceutical executives to find hope and agency.
Healthcare system shortfalls place an additional strain on individuals and families. However, policy change presents an opportunity to alleviate some of these pressures.
In 2009, European Union Member States committed to national rare disease plans by 2013 to improve care within health systems. Since then, many plans have been implemented, but challenges such as long diagnostic odysseys, poor coordination of care, and limited treatment access remain.
Here, we look at two examples of how policy change is changing the care and treatment rare disease patients get:
Care and diagnosis – evidence from Germany
Looking at Germany, its National Action Plan proposed establishing Centres for Rare Diseases (also called ZSEs, Zentren für Seltene Erkrankungen). Over 30 have now been established in the country’s university hospitals.
A 2023 report commissioned by the Ministry of Health and based on surveys of patients and clinicians found that:
- 47% of patients perceived an improvement in their medical care due to ZSEs
- 63% of patients felt that medical care improved over the last decade; patients also felt diagnostic processes had improved. However, 50% still described their overall quality of life as poor
Experts concluded that while care had ‘improved markedly,’ challenges remain. Further initiatives, including more detailed diagnostic projects and better coding for rare diseases in data across the health system, now build on the ZSE model.
Germany’s approach aligns with the trends highlighted in our 2025 trends report, including the use of quality data to enable AI-driven diagnostic solutions. Additionally, as of December 2024, the German government has embarked on a massive hospital reform programme to bring in certification and centralisation for more common (but still relatively specialised) care, treatments, and surgeries. The hope is this will drive up quality of care and drive down costs.
So, in Germany, a change that has worked well for rare diseases is now being followed for more common conditions.
Treatment access – France
In 2021, France launched a new avenue to enable early access to medicines. Considering approximately 95% of rare diseases have no approved treatment, this initiative offered hope that many therapies addressing unmet needs could qualify.
However, concerns arose that while the programme was more straightforward, in some respects it was stricter and might disadvantage treatments with very small trials. This reform was never elucidated in France’s 2018-2022 Rare Disease Strategy.
So far, the French health system has defended the programme, noting 180 decisions were issued, 80% of which were positive, with coverage facilitated approximately 9 months before regular reimbursement. Over 100,000 patients are estimated to have benefited. However, only 3 of the first 50 decisions under the scheme concerned rare disease treatments.
Further evaluation will tell whether the picture for rare diseases might be more positive than these very early data indicate.
What can we learn?
Germany’s case illustrates that national rare disease strategies can lead to substantial improvement in care and that changes in rare diseases may have lessons for more common conditions.
On the other hand, France’s example highlights how policy changes not explicitly designed for rare diseases can still have significant consequences for the community, both positive and negative.
Most importantly, now rare diseases have had national, strategic focus for over a decade. A detailed evaluation and understanding of exactly what has and has not worked will be crucial to sustain policymakers’ interest and ability to effect positive change.
About your authors
Mark Sudwell
Mark heads our Value, Access and Reputation practice across Europe and International markets, based out of our London office. His 20-year career spans the pharmaceutical, charity, and consultancy sector.
Noah Froud
Noah is an Associate Director focused on global health systems and policy issues, based in London. He has worked in UK politics, for patient groups and in consultancy. His work ranges from common diseases cared for in primary care to rare diseases where specialised care is centred in a handful of hospitals.