The challenges of engaging patients with rare diseases 

by | 26 Feb 2021

Patient engagement requires a critical mass of patients with the time, expertise and language skills to work with medicines developers. For rare diseases, these patients are hard to find, but EU initiatives offer hope 
People living with rare diseases struggle to secure a diagnosis and access care. For many conditions, there are no treatments, and research is a challenge due to the small patient population. 
In Europe, 30 million people live with one of 6,000 rare diseases – conditions which affect fewer than one in 2,000 people. Efforts to improve the lives of those affected have slowly gained ground, but much work remains. 
In Europe, incentives for orphan drug development has seen an increase in clinical trials, European Reference Networks are connecting experts and patients with rare conditions, and Rare Diseases Day (28 February) is now a fixture in the calendar. 
However, ensuring that the voice of patients is heard in the development of new therapies is a particular challenge, according to EURORDIS – Rare Diseases Europe. Meaningful patient engagement can be difficult to achieve even when the will is there; the low number of patients available for collaboration means researchers struggle to gain the insights they need to understand uncommon illnesses. And the limited number of patient experts leads to potential conflicts of interests if a handful of patients have too much influence over the field. 
Language barriers and knowledge of medicines R&D are also an issue, not least because many patients with genetic conditions are children. International cooperation can be necessary, given the low number of patients at the national level, meaning patient engagement work is frequently conducted in English and can be time-consuming and expensive. 
The tendency to group patients together, for practical purposes, also means the distinct needs of a particular patient group may not be heard. 
Co-creating solutions 
Stanislav Ostapenko, Communications Manager at EURORDIS, points to a range of collaborative initiatives with the potential to address these problems. By ensuring that different patient advocates engage with different stakeholders (e.g. regulators, policymakers and industry), the risk of conflicts of interest can be managed. Concretely, the PARADIGM  PE toolbox addresses conflicts of interest
To overcome the lack of expertise, the EURORDIS Open Academy provides patients with free training, helping to build the knowledge and confidence needed to engage with regulators and scientists. 
There is also guidance available to help navigate the difficulties patients face in finding the time and resources required for patient engagement. ‘We believe that patients should be reimbursed for their time and input, like all the other stakeholders, following fair market value,’ says Ostapenko. 
European networks 
One of the most promising developments in the rare disease field in recent times is the launch of 24 European Reference Networks (ERNs). These networks bring together experts in, for example, rare epilepsies or rare heart diseases. Not only do ERNs offer opportunities for patients to receive expert care, but they present research opportunities by connecting patients at an unprecedented scale. 
The lack of formal recognition of patient representatives as ERN members in the EU legislation left a gap regarding the rules for patient engagement in the ERNs,’ explains Ines Hernando, ERN & Healthcare Director at EURORDIS. 
To address this and involve patients in the decision-making structures of the ERNs, EURORDIS and its members established 24 European Patient Advocacy Groups (EPAG) in 2017. Today, all ERNs have at least one patient representative in their Board. 
‘However, the level of formal recognition of patient engagement varies among ERNs,’ says Hernando. ‘Some Networks have not yet integrated the EPAG into their formal governance structure. This would be a first step to legitimising the role of patient representatives in the Networks.’
In the four years since the creation of EPAGs, some networks have built strong partnerships between clinical leads and patient representatives, but more work is needed to build a culture of partnership in all 24 networks, according to EURODIS. 
‘One of the ways in which we could address this would be, for example, through joint training for clinicians and patient representatives on shared leadership,’ says Hernando. ‘But we also need clear and transparent rules for patient engagement in the ERNs and adequate support for the involvement of patient organisations and their representatives.’
Here, again, the issue of providing sufficient resources to support patient advocates is seen as a barrier to progress. If patients are to play a truly active and equal role when engaging with other experts, they cannot be the only people in the room who are expected to contribute for free. EURORDIS hopes to see this issue addressed when the European Commission evaluates the ERNs in 2022. ‘We hope to see patient engagement integrated into the future of ERNs quality improvement system,’ Hernando says. 
It is clear that much work still needs to be done. But there is also reason to hope that progress on engaging patients with rare diseases can be achieved if all stakeholders embrace the tools available to address barriers to inclusion. 
Read more: Pandemic causing delayed diagnosis of rare diseases

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