More available, accessible, and affordable treatments

Image of a child with a rare disease smiling.

Treatments are essential for people living with a rare disease. They can provide relief from symptoms, slow the progression of the disease, and, in some cases, even cure the condition. For people with rare diseases, treatments can be life-changing, improving their health and quality of life, and enabling them to fully participate in society.

However, despite the importance of treatments, many people with rare diseases do not have access to them. This is due to a range of factors, including the high cost of developing and producing treatments for rare diseases and the lack of research into these conditions.

Ensuring the accessibility, affordability, and availability of treatments for rare diseases is critical. Accessible treatments mean that people, no matter where they live, can easily get the help they need. Affordable treatments ensure that individuals can access these crucial interventions without facing financial hardships. Moreover, the availability of treatments must be consistent to ensure ongoing care. Lastly, ensuring the effectiveness of these treatments is equally important, to make sure that interventions not only exist but also deliver meaningful improvements in health outcomes.

The EU Regulation on Orphan Medicinal Products has been successful in attracting investment to the development of therapies for life-threatening or debilitating diseases for millions of people who previously lacked satisfactory treatment options. Although over 2,000 orphan designations and roughly 200 orphan medicines have been authorised since 1999, there remain issues with national-level pricing and reimbursement decisions that prevent patients from accessing treatments. Many patients have also received treatments that are intended to treat or cure a different disease through off-label use.

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22% of people with rare diseases could not get, in 2019, the treatments they needed because it was not available where they live.

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12% of people with rare diseases could not get, in 2019, the treatments they needed because they could not pay for it.

1/3 of people with rare diseases have never received a treatment directly linked to their rare disease, because it does not exist.

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94% of rare diseases don’t have a specific treatment

“EURORDIS was a huge source of support in our advocacy throughout the process which led to the European Medicines Agency giving a positive opinion for a treatment for AKU. The EURORDIS Summer School in June 2011 was a particular highlight as it opened my mind to the whole regulatory process and helped define our strategy ”

Nick Sireau, Chair & CEO, AKU Society

EURORDIS Objectives in Treatments

EURORDIS aims to create a research, development, and delivery ecosystem for rare disease therapies in Europe that is co-designed by both the public and private sectors. This ecosystem must remain concerted for success, and tailored approaches to care, research, and treatment may be required for diseases that have historically been neglected or for whom curative treatments have not yet materialised. We are committed to working towards the faster uptake of new technologies and the adaptation of decision-making processes to make treatments available, accessible, and affordable for all rare disease patients, no matter where they live.

When it comes to treatments for rare diseases, our key objectives are:

Ensure accessible treatments: people with rare diseases, no matter where they live, should easily get the help they need.

Promote affordable treatments: those living with a rare disease should be able to access crucial interventions without facing financial hardships.

Maintain consistent availability of treatments: ongoing care requires the reliable presence of necessary interventions.

Prioritise treatment effectiveness: interventions should not only exist but also deliver meaningful improvements in health outcomes.

EURORDIS initiatives, projects and networks

EURORDIS is dedicated to enhancing access to treatments and therapies for individuals living with rare diseases through a range of initiatives, projects, and collaborations at European and International levels.

EURORDIS initiatives
Projects and partnerships
Networks and other initiatives

Through interactions with patients, policymakers, companies, regulators and payers, EURORDIS advocates for better access to rare disease treatments and improved engagement of patients in the R&D process for rare disease treatments.

EURORDIS has several internal working groups that bring together patient representative volunteers from EURORDIS member organisations:

The Therapeutic Action Group (TAG), composed of EURORDIS volunteers in the scientific committees and working parties at the EMA.
The Drug Information, Transparency and Access (DITA) Task Force, which follows the work done by patients and consumers at the EMA and in the European Network of HTA agencies (EUnetHTA) in the areas of product information, transparency of the regulatory process and access to medicines.
Health Technology Assessment Task Force (HTA), with the mission to discuss any aspect of the assessment and reimbursement of health technologies, ensuring that EURORDIS’ position on any HTA-related matter is built on the knowledge and the input of patients.

Additionally, EURORDIS has implemented several initiatives to empower rare disease patient advocates, including the EUROCAB Programme, which is now managed by EUPATI Spain. This programme supports patient advocates in creating and operating community advisory boards in their respective disease areas. These boards facilitate communication between the patient community and the sponsor of clinical research, enabling the integration of the patient’s perspective in the development of rare disease treatments.

Moreover, EURORDIS launched the EURORDIS Open Academy, empowering rare disease patient advocates to serve on EMA committees responsible for developing treatments. Patient advocates gain the knowledge and skills necessary to participate in discussions with regulators and companies, giving them a voice in the development of treatments for rare diseases.

The EURORDIS Rare Barometer Programme plays a crucial role in understanding the therapeutic needs of people with rare diseases and addressing the issue of rare disease treatments. Through online surveys, the programme collects valuable data directly from patients and their families on their experience living with a rare disease, their access to treatment and care, and their unmet medical needs. This information is then analysed and shared with policymakers, researchers, and the wider rare disease community, informing the development of new treatments, policies, and programmes that meet the real needs of patients.

Lastly, EURORDIS represents the patient voice in conversations around improving access through events such as the EURORDIS Round Table of Companies and the biennial European Conference on Rare Diseases & Orphan Products.

EURORDIS actively participates in European and international projects, contributing to advancing patient access to rare disease treatments and promoting patient engagement.

HTx: As part of the HTx consortium, EURORDIS trains future advocates on HTx core concepts, with a focus on rare diseases like head and neck cancer and myelodysplastic syndrome.

EUCAPA: As the project coordinator, EURORDIS recruits patients and develops HTA training to equip patients for meaningful contributions to HTA decision-making.

MORE EUROPA: EURORDIS participates in MORE EUROPA, aiming to develop standards for efficient use of real-world data in regulatory and HTA decision-making for medicinal products in Europe.

GetReal Institute: As a co-founder and board member, EURORDIS contributes to Get Real Institute, focusing on sustainable development and adoption of real-world evidence (RWE) tools for better healthcare decision-making.

REMEDi4ALL: EURORDIS actively engages in REMEDi4ALL to facilitate patient-centric drug repurposing, ensuring the patient’s voice is integral to the repurposing programmes.

Conect4Children: EURORDIS plays a crucial role in placing patients at the center of Conect4Children’s (C4C) activities, ensuring their participation in all aspects of clinical trials.

EJP on RD (European Joint Programme on Rare Diseases): EURORDIS actively contributes to EJP RD, participating in the strategic development and co-leading a Pillar on capacity building and training.

EURORDIS actively engages in various networks, amplifying the voice of rare disease patients and influencing key decisions:

HTA Stakeholder Network: As a member of the Commission’s Health Technology Assessment (HTA) Stakeholder Network, EURORDIS ensures that the concerns and perspectives of rare disease patients are considered in the EU Cooperation on HTA, contributing to consultations and amendments to the HTA Coordination Group’s work programme.

IRDiRC (International Rare Diseases Research Consortium): EURORDIS is a partner in IRDiRC, an initiative addressing the fragmentation of rare disease research.

ERNs (European Reference Networks): EURORDIS played a pivotal role in advocating for the launch of 24 ERNs specialised in rare and complex diseases by the European Commission. Through ePAGs (European Patient Advocacy Groups), EURORDIS ensures the patient voice is integral to ERNs’ activities, fostering cross-border collaboration and advancing research capacities.

Rare 2030: Leading the Rare 2030 foresight study, EURORDIS collaborated with patients, practitioners, and key opinion leaders to propose policy recommendations, shaping the future landscape for rare diseases.

MoCA (Mechanism of Coordinated Access): EURORDIS promotes dialogue between stakeholders involved in improving access, including health technology assessment bodies and payers, through platforms like MoCA, facilitating coordinated access to orphan medicinal products.

EMA (European Medicines Agency): Recognising the vital role of patients in rare disease treatment development, EURORDIS facilitates the participation of patient representatives in committees and working parties at the EMA, ensuring real-life patient needs influence the life cycle development of medicines.

Call to Action and Policy Recommendations

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1000 new therapies should be available by 2030, in line with the IRDiRC vision

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Therapies should be 3 to 5 times more affordable than currently available treatments

Europe is a world leader in the development of rare disease therapies with a competitive regulatory ecosystem and a more robust pharmaceutical and biotech manufacturing presence

Our advocacy and the positions we take on important topics around rare disease treatments are bolstered by the views and experience of our member patient organisations, who collectively represent the 30 million people living with a rare disease in Europe. We collect their input through consultations (often held through webinars and events) or through Rare Barometer surveys, as can be seen in the results of the 2019 treatments survey.

The European Union should:

Evolve the incentives framework in the Pharmaceutical Package to focus on diseases lacking treatments, encourage early dialogue for evidence generation, enhance European competitiveness, and ensure consistent rewards for sponsors;
Develop an R&D model centred on the unmet needs of rare disease patients, mandating patient advocate involvement in all stages, including research, develop-ment, regulatory processes, and assessment;
Create a comprehensive European pathway from development to access, balancing innovation and affordability, aiming for strategic autonomy in R&D, and reducing delays in patient access to treatments. Strategies could include expanding early access programmes, clarifying legal aspects of cross-border treatment access, and revising the directive on pricing transparency for medicinal products under national health systems;
Strengthen European collaboration in pricing and negotiations, building on the momentum of multi-country negotiation platforms and voluntary cooperation mechanisms. These should be further unified and may include common purchasing initiatives, particularly for orphan medicinal products;
Define and implement specific policy and legislative measures to establish a European pathway to access complex therapies such as Advanced Therapy Medicinal Products, that can only be delivered in a few specialised centres throughout the EU.

How can you and your patient organisation make a difference in improving access to rare disease treatments?

As a patient organisation, you can make a significant difference in improving access to rare disease treatments. Here are some ways you and your organisation can contribute:

Participate in research:
Encourage your members to participate in research studies and clinical trials. This can help to generate the evidence needed to support regulatory approval of new treatments and improve access to these treatments for people with rare diseases. Visit our Open Academy website to take part in the EURORDIS School on Medicines Research & Development.

Advocate for policy change:
Work with policymakers to create policies that improve access to rare disease treatments. Use our collective voice to advocate for changes in pricing, reimbursement, and regulatory policies. Join our Brussels Rare Disease Week to become a strong advocate at the EU level.

If you are a policymaker, we invite you to become a member of our Network of Parliamentary Advocates for Rare Diseases, which brings together members of parliament to ensure strong international and local action, shape political input for current and future legislation, and integrate rare diseases into all relevant policies at all levels.

Collaborate with members of EURORDIS and other patient organisations:
Collaborate with other patient organisations, both locally and internationally, to share resources and knowledge, and to amplify your advocacy efforts. Additionally, consider engaging with Patient Community Advisory Boards (CABs), collaborative groups established by patient advocates to discuss and address the latest developments, challenges, and policy-related issues in medical research within specific disease areas.

Raise awareness:
Raising awareness can help to increase funding for research and development of rare disease treatments. Educate the public and healthcare providers about the challenges faced by people with rare diseases and the need for more effective treatments. You can do so by contributing to the EURORDIS Rare Barometer Programme or through the international Rare Disease Day campaign, held annually on the last day of February.