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September 2022

Involving those who matter most: Improving patient engagement in the development of medicines


From launching applications to next year’s Open Academy Schools, to supporting the new, EU-funded REMEDi4ALL project on medicines repurposing, we at EURORDIS have busily continued our efforts to facilitate the engagement of people with rare diseases in the development of medicines.

It may be obvious that the experiences, preferences and hopes of people living with a rare disease should be central to how new medicines are researched, developed, and used. However, it is only in recent times that the most significant strides have been made in placing patients – and an appreciation for their unmet needs – at the centre of a medicine’s life-cycle, from the point of discovery to the points of marketing authorisation and use.

The Challenges

Patient engagement is particularly important within the sphere of rare diseases, as such diseases are often complex, for example with differing clinical presentations for the same disease. Rare diseases also impose unique challenges to an individual’s daily life.

As EURORDIS has highlighted before, a fundamental challenge faced by rare disease medicine development is that viable and effective patient engagement requires a critical mass of patients with a given condition. Yet people with rare diseases commonly struggle to find a diagnosis to begin with. Even within an already small population of those diagnosed with a rare disease, it can be difficult to identify those with the time, resources, and expertise to work with drug developers and regulators.

Additionally, an array of socio-economic factors mean that grave inequalities and disparities exist relating to the extent that effective patient engagement is implemented across our continent.

EURORDIS’ activities and the evolution of patient engagement

Since its founding over 25 years ago, and against the backdrop of these challenges detailed above, EURORDIS has pioneered new methods for engagement with people with rare diseases in the development of medicines.

Toward this end, we have been delivering training to people living with a rare disease and their families who themselves want to make an impact; collaborating with the EMA to ensure patients are proactively identified and involved; and supporting EU-wide projects aimed at improving stakeholders’ patient engagement processes.

Fostering patient engagement in regulatory policy

Our organisation has broadly fostered improved engagement with patients at an operational level by establishing the framework and channels for patient engagement, and at a more strategic level by providing direction to policymakers and stakeholders on what successful processes for patient engagement should look like.

EURORDIS was founded in 1997 with the aim of developing the European Orphan Medicines Regulation, and the subsequent period would see the creation of the EMA’s Committee on Orphan Medicinal Products (COMP), which was the first EMA Committee to include (three) patient representatives as full members.

Throughout the noughties, patients began being represented on various EMA committees and working parties. Patients would be represented on the EMA’s governing Management Board from 2005, at the Patients’ and Consumers’ Working Party (PCWP), on the Paediatric Committee (PDCO), the Committee for Advanced Therapies (CAT), and the Pharmacovigilance Risk Assessment Committee (PRAC).

From 2005, rare disease patients began being included in discussions at the EMA on scientific advice with sponsors for orphan medicines under Protocol Assistance [1]. Only last year, EURORDIS identified 46 patients for involvement in Protocol Assistance – representing 90% of the briefing dossiers on orphan medicines for which patient input was required.

To bolster patient engagement in the provision of scientific advice, EURORDIS appointed a Patient Engagement Manager – our colleague María Cavaller – who is collaborating with the EMA to identify and involve the appropriate patient representatives in Protocol Assistance procedures.

Complementing this activity, our Therapeutic Action Group (TAG) [2] gathers rare disease patient representatives who are members of the EMA Scientific Committees. It is through EMA committees that patient representatives can represent the needs and expectations of the patients as they contribute to the regulatory decision-making processes (e.g. opinion on orphan drug designation, paediatric investigation plans).

Training and empowering people living with a rare disease

Tackling the issue of many people with rare diseases and their families struggling to acquire the expertise and skillset to inform the decision-making process, the EURORDIS Open Academy is a major initiative of ours.

Our Open Academy equips patient advocates with the knowledge and skills to take part in patient engagement roles side-by-side with all stakeholders.

When patient representatives are members of EMA Scientific Committees, they contribute as equal partners, with the same voting rights as other members. We now must work on how to improve the way patient data, patient-reported outcomes, and patient preferences are incorporated into regulatory processes.

Virginie Hivert, Therapeutic Development Director at EURORDIS

The Academy empowers people with rare diseases and their loved ones to impactfully advocate for rare diseases at both the European and national levels. These alumni are subsequently bringing the combination of their lived experience with their newfound expertise from the Open Academy to discussions on healthcare, research, and medicines development. Side by side with policymakers, researchers and industry leaders, our alumni have engaged in these discussions as equal partners, toward the end of tangibly improving the care, treatment and lives of persons living with a rare disease.

[EURORDIS] provided me with a lot of support and advice, particularly when we were trying to develop our clinical studies 10 years ago in the Summer School, and then a few years later in the Winter School.

Nick Sireau, CEO of AKU Society and alumnus of EURORDIS Open Academy

Applications have now opened for our 2023 Open Academy Schools.

There are more ways in which EURORDIS is continually striving to assure and champion the engagement of those who matter most: people with rare diseases. Not least are we striving to achieve patient involvement through the European Patient Advocacy Groups (ePAGs), which bring patient voices to European Reference Networks’ (ERNs) efforts to further understanding of specific conditions.

Supporting patient involvement through EU-funded projects

Addressing the issue of people with rare diseases still being under-engaged in medicines development, EURORDIS has been a partner in the PARADIGM project, where we have led development recommendations on how stakeholder organisations can carry out effective patient engagement.

As part of this public-private IMI-funded project promoting co-creation, EURORDIS has been highly involved in designing tools facilitating the operationalisation of patient engagement. For example, the project provides practical detail on matters such as working with CABs and how to navigate competing interests.

Crucially, the PARADIGM project and EURORDIS’ work in this area resulted in a set of seminal recommendations on the knowledge, skills and resources that stakeholder organisations should aspire to have in order to plan, implement and evaluate meaningful and sustainable patient engagement activities across the lifecycle of medicines.

Pooling resources and partnering with all the stakeholders involved in medicines development at the European-level is key to achieving meaningful, extensive, and sustainable engagement with rare disease patients.

María Cavaller, Patient Engagement & Therapeutic Development Senior Manager at EURORDIS

An additional challenge has long concerned the under-identification and underuse of existing medicines that may have considerable therapeutic value to many people with rare diseases.

Responding to this challenge, earlier this month saw the launch of REMEDi4ALL –  an EU-funded research initiative, of which EURORDIS is a partner,  which will drive forward the repurposing of medicines in Europe.

The €25 m-backed project is expected to make a major leap forward in supporting drug development of repurposed products and bringing medicines or new therapeutic options for diseases with unmet medical needs.

The project will develop a platform to support repurposing project leads (researchers, clinicians) teaming up with patient champions throughout the therapeutic development path and will establish a global community that contributes to informing and shaping policy and debate.

Bringing to REMEDi4ALL its expertise in patient engagement, EURORDIS will co-lead, together with Beacon, the development of a ‘patient-user, co-creation pathway’. This will help researchers access patient expertise to support all stages of repurposing and will build the overall framework for engaging patients and stakeholder communities in the REMEDi4ALL platform.

We will therefore continue to host and promote initiatives aimed at ensuring people with rare diseases are listened to and centred at the heart of regulatory processes as medicines are researched, developed, and used.


[1] EMA ‘Protocol Assistance’ refers to Scientific Advice for orphan medicinal products which is given by the regulators to the developers to support the timely and sound development of high-quality, effective and safe medicines.

[2] The Therapeutic Action Group (TAG) – first set up by us in 2009 – is comprised of EURORDIS volunteers who are members of the European Medicines Agency’s (EMA) Scientific Committees. (Committee for Orphan Medicinal Products (COMP), Paediatric Committee (PDCO), Committee for Advanced Therapies (CAT) and Pharmacovigilance and Risk Assessment Committee (PRAC)).


Julien Poulain, Communications Manager