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Why are treatments a priority for people living with a rare disease?

Once a child or adult is diagnosed with a rare disease, their next logical step is to search for a treatment.

Treatments provide relief to people living with a rare disease and their families. A treatment can slow down the progression of a disease, treat the symptoms or cure the disease. They ease the reality of living with a rare disease every day.

EURORDIS was a huge source of support in our advocacy throughout the process that 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 advocates for change to improve both the development of medicines and the systems that obstruct patients’ access to rare disease medicines.

EURORDIS objectives in the area of treatments

Improve patients’ access to orphan medicinal products and treatments for rare diseases through a sustainable development model

Ensure legislation, which affects treatment options for people living with a rare disease, takes into account the needs of the 30 million people living with a rare disease in Europe

Engage rare disease patient advocates in the research and development of rare disease treatments as well as in regulatory, assessment and appraisal processes

For people living with a rare disease, there are various forms of treatments, including orphan medicines, paediatric medicines, medical devices, surgery, radiotherapy, physiotherapy, assistive technologies and digital devices.

The EU Regulation on Orphan Medicinal Products (1999) has been a success in fulfilling its primary purpose – to attract investment to the development of therapies for life-threatening or debilitating diseases for millions of people who today have either no treatment at all or no satisfactory treatment.

Since 1999 there have been over 2,000 orphan designations and around 200 orphan medicines authorised for the market. This is a genuine success.

Unfortunately, EURORDIS also hears regularly of cases when a treatment has been authorised for the market at the EU level but is not available in a country because of issues around national-level pricing and reimbursement decisions.

A significant part of treatments experienced by patients has also not been approved for the treatment of their disease yet. According to a 2019 EURORDIS Rare Barometer survey, many patients reported that they have experienced treatments that were indicated to treat or cure a different disease than theirs through off-label use.

The autumn, Progressive muscular dystrophy (Romania)
Just some simple fun with bubbles, Williams syndrome (Luxembourg)
Katwalk, KAT6A (Austria)


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

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.

EURORDIS has proposed a four-pillar approach to tackling the challenges that prevent patients’ access to medicines, including the ambition to have 3 to 5 times more new rare disease therapies approved per year, 3 to 5 times cheaper than today by 2025.

In cooperation with our member patient organisations and on behalf of the wider rare disease community, EURORDIS advocates for better access to treatments at several stages:

  • Prior to the market authorisation of the treatment

EURORDIS advocates for improved compassionate use programmes in EU Member States. Compassionate Use Programmes (CUP) are established to regulate access to medicines prior to their marketing authorisation, to help treat patients who have no other options and who do not have the time to wait for the end of clinical trials and the authorisation process. More information on how to access a CUP.

  • At the stage of marketing authorisation (granted at the EU level)

EURORDIS is involved in initiatives to make the evaluation of medicines more efficient.

  • Post-marketing authorisation of the treatment (at the stage when decisions are taken at the national level on pricing & reimbursement of the treatment)

EURORDIS has had a fundamental role in promoting dialogue between all major stakeholders involved in improving access to patients with a particular focus on getting health technology assessment bodies and payers engaged in different platforms and mechanisms, such as the Mechanism of Coordinated Access to orphan medicinal products (MoCA). Read more about EURORDIS’ work to improve EU cooperation on health technology assessment.

EURORDIS represents the patient voice in conversations around improving access with companies that develop rare disease therapies through events held with the EURORDIS Round Table of Companies, as well as through the EURORDIS-organised biennial European Conference on Rare Diseases & Orphan Products.

Patient engagement in medicines R&D

EURORDIS participates in projects such as PARADIGM (Patients Active in Research and Dialogues for an Improved Generation of Medicines), through which a series of tools that all stakeholders involved in the development of medicines – including patient organisations –  can use to facilitate patient engagement in medicines R&D.

Improving access to gene and cell therapies

Gene and cell therapies offer groundbreaking new opportunities for patients with rare and complex diseases. As chair and participant in the RARE IMPACT consortium, EURORDIS has helped lead conversations with companies producing advanced therapy medicinal products (ATMPs), focused on how to improve patients’ access to these innovative and potentially live-saving products that are now reaching the market.

Repurposing of treatments

When appropriate, EURORDIS also supports the repurposing of medicines that are authorised for the treatment of one disease so that they can be used to treat a rare disease. This can save on money and time usually needed for the lengthy development of a rare disease treatment.

Safety of treatments

EURORDIS believes in the importance of pharmacovigilance – the reporting of side effects and adverse events caused by a medicine so as to improve its safety in the future. We participated in the WEB-RADR project to create an app for this purpose.



It is vital that patients are engaged in the development of treatments for rare diseases. By providing feedback on their real-life needs throughout the life-cycle development of medicines, patients can play a role in ensuring the end product truly serves its purpose, to improve their health outputs and quality of life.

At the European Medicines Agency (EMA)

EURORDIS facilitates the participation of patient representatives in several committees and working parties at the EMA that play a role in the development of orphan medicines. Patients can be involved as full members (or alternates) of the Committees or as ad-hoc experts:

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


EURORDIS empowered patient advocates through the EURORDIS EUROCAB Programme it initiated. This programme, now managed by EUPATI Spain, helps patient advocates to set up and run community advisory boards in their disease area, which create a bridge between the patient community and the sponsor of the clinical research, to integrate the view of the patient into the research and development of a rare disease treatment.

EURORDIS also empowers rare disease patient advocates, many of whom go on to serve on the committees of the EMA responsible for developing treatments, through the EURORDIS Open Academy trainings. Patients gain the knowledge and skills they need to sit at the table in discussions with regulators and companies.

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