Despite significant progress in rare disease research and a growing number of authorised orphan medicines, patients with ultra-rare conditions across the EU continue to face deeply unequal and often severely delayed access to approved therapies or no access at all.
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These headlines mask an even starker reality at country level: national availability rates for orphan medicines in the EU range from just 89% to 14%, and reimbursement timelines from 45 to 831 days — an 18-fold variation that reflects deeply unequal access across Member States (MS)1,2
Patient survey data has documented that 22% of rare disease patients could not access the treatments they needed because the therapy was not available where they live, while 12% faced barriers due to cost; a third have never received a treatment directly linked to their condition because one simply does not exist or is not accessible to them3.
The absence of therapy not only leads to significant health deterioration and premature mortality but also imposes a substantial economic burden, particularly through indirect costs with substantial repercussions on patients’ personal and financial health4.
Ultra-rare diseases face challenges that compound the access gap described above. The extremely small patient populations make it very difficult to conduct well-powered clinical trials, limiting the evidence base that regulators, HTA bodies, and payers require which contribute to longer, more uncertain pricing and reimbursement negotiations.
For patients with life-threatening ultra-rare diseases awaiting treatments that have already received EMA approval, every month of delay carries potentially irreversible consequences that no administrative process can undo.
The extraordinary challenges of ultra-rare
Current solutions fail to deliver timely access to ultra-rare therapies because they address regulatory approval but not the access bottleneck that follows. While EMA assessment timelines have been accelerated and EU level initiatives such as HTA reform and Joint Clinical Assessments (JCA) aim to improve coordination, there is no mechanism to bridge the gap between EU approval and national pricing and reimbursement (P&R) decisions.
Patient survey data has documented that 22% of rare disease patients could not access the treatments they needed because the therapy was not available where they live
Some countries have already introduced mechanisms to address these challenges. The Automatic Reimbursement Framework in Germany and the French Early Access Authorisation (AAP) scheme provide early or accelerated access to promising therapies5. However, such schemes are not uniformly available across the EU and are often applied only in exceptional cases. This fragmented approach exacerbates inequalities and delays access for patients with ultra-rare diseases, particularly in smaller Member States. Together, these factors mean that existing solutions do not deliver enough for people living with ultra-rare diseases.
A potential pathway forward
A harmonised, EU-level solution is urgently needed to ensure equitable and timely access to life-changing therapies for ultra-rare diseases, regardless of where a patient lives.
Here is what could work: an EU-level Early Access Scheme (EU-EAS), potentially voluntary, designed specifically for life-threatening, progressive and debilitating ultra-rare diseases that have a prevalence below 1 in 50,000, hold Orphan Drug Designation (ODD), and have no satisfactory alternative treatment available.
A mechanism like this is intended to bridge the critical gap between EMA approval and national reimbursement decisions by enabling timebound, risk-shared, and equitable access across participating Member States. The scheme would allow people living with ultra-rare diseases that have no treatments to receive timely access to innovative therapies, across Europe while fully preserving the integrity of existing national P&R processes.
Multi-stakeholder benefits
A potential EU-EAS offers tangible benefits across all stakeholder groups. Patients gain earlier access to potentially life-saving treatments that would otherwise remain out of reach during lengthy national P&R processes. National healthcare systems benefit from immediate access to innovation, predictable expenditure and a structured transition to full commercial availability. All of this while preserving the integrity of national P&R procedures. For ultra-rare developers, that means an earlier return on investment and a more predictable launch trajectory in Europe.
Treatment for ultra-rare diseases is at the very forefront of biomedical innovation, driven by platform technologies such as adeno-associated virus (AAV) gene therapies and gene editing. By establishing a viable and predictable route from bench to bedside, an EU Early Access Mechanism would incentivise investment and attract clinical research back to European centres, reinforcing the EU’s global competitiveness.
Complementing the current system
The EU has recognised the pressing need to improve access in rare and ultra-rare diseases, and an EU-EAS is timely and aligned with the current EU policy environment. A common pathway would not replace or override the EU Health Technology Assessment (HTA) framework but rather complements it by providing a structured interim access mechanism during the period in which HTA and P&R negotiations are ongoing.
A harmonised, EU-level solution is urgently needed to ensure equitable and timely access to life-changing therapies for ultra-rare diseases, regardless of where a patient lives
It also corresponds with the General Pharmaceutical Legislation's (GPL) orphan provision related to “breakthrough” orphan products — those addressing conditions with no existing treatment6. The GPL protects the exclusivity period while the EAS ensures it is not spent waiting for P&R decisions. Together they form a coherent policy architecture: innovation incentive on one side, structured early access on the other.
A harmonised EU Rare Disease Action Plan can demonstrate further value but there is already compelling evidence that pan-European coordination of highly specialised healthcare, like the European Reference Networks (ERNs) and EU Civil Protection Mechanism, is both feasible and effective. An EU Early Access Mechanism for ultra-rare disease therapies would be a natural extension of this established collaborative model.
Respect for patients and health systems
At Chiesi Global Rare Diseases, we are committed to delivering innovative therapies that transform the lives of people living with rare and ultra-rare conditions. As the EU strives to make itself a global leader in biotechnology and accelerate the development of innovative therapies, it is imperative that patients across the EU can access them promptly and equitably.
An EU-level Early Access Scheme could be a useful pathway to overcome the challenges that market access poses to the very specific group of ultra-rare diseases. It could represent a balanced and transparent framework that places the urgent needs of ultra-rare disease patients at its centre, while respecting the autonomy of national health systems and the sustainability of healthcare budgets, especially for smaller nations.
We call on EU institutions, Member States, patient organisations, HTA bodies, and industry stakeholders to engage in collaborative dialogue on this point. Together, we can make accelerated, equitable access to therapies for ultra-rare diseases a reality across Europe.
List of references
1,2. EFPIA Patients W.A.I.T. Indicator 2024 Survey. 2025. Available from: https://efpia.eu/media/oeganukm/efpia-patients-wait-indicator-2024-final-110425.pdf
3. EURORDIS-Rare Diseases Europe. More available, accessible, and affordable treatments. Key findings from the 2019 Rare Barometer treatments survey. Available from: https://www.eurordis.org/our-priorities/treatments/. See also: EURORDIS-Rare Diseases Europe. The Voice of 12,000 Patients: Experiences and Expectations of Rare Disease Patients on Diagnosis and Care in Europe. 2009. Available from: https://www.eurordis.org/publications/the-voice-of-12000-patients/
4. Andreu P, Atay NJ, Piccinini E, Chiesi G, and Cioffi G. JD Rare disease burden of care and the economic impact on citizens in Germany, France and Italy. 2023. Available from: https://chiesirarediseases.com/assets/pdf/rare-disease-burden-of-care-and-the-economic-impact-on-citizens.pdf
5. OD Expert Group, An EU Access Toolbox for OMPs that enables early and equitable access. 2025. Available from: https://od-expertgroup.eu/wp-content/uploads/2025/07/od-expert-group-an-eu-access-toolbox-for-omps-that-enables-early-and-equitable-access-july2025.pdf
6. Crowell. The New EU Pharma Package: EU Reaches Landmark Deal. December 2025. Available from: https://www.crowell.com/en/insights/client-alerts/the-new-eu-pharma-package-eu-reaches-landmark-deal-on-pharma-package.
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