World Orphan Drug Congress Europe: how to make 'rare' a bit more well done!

27 November 2020

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The Oxford PharmaGenesis Patient Engagement Team was lucky enough to attend the World Orphan Drug Congress Europe earlier in November. The virtual conference provided invaluable insights into hot topics and current issues for rare diseases. Of much interest to our team were patient centricity, initiatives working with patient groups/advocates and, specifically, discussions around access and pricing issues.

Access and pricing are some of the biggest issues for rare diseases. The cost of orphan drugs is often prohibitively high. Healthcare providers have to make difficult decisions about whether to fund the treatment of, for example, two patients with a rare disease that could save the healthcare system money in the future or 2000 treatments for cancer sufferers, the outcomes for which are often more measurable. Added to this is the difficulty of finding enough people to participate in clinical trials. Some diseases are so rare that there might be only a handful of patients who are eligible for a clinical trial in one country. Having enough meaningful data to support reimbursement is a major issue in the orphan disease world.

Key points from the conference

As always, one of the biggest takeaway messages is the involvement of patients much earlier in pharma drug development processes for clinical trials, support tools and regulatory/access activities. This is a common theme seen across a number of the online ‘patient centric’ conferences. However, it seems even more important in rare diseases owing to the lack of large data sets to support drug development, trials and real-world evidence (RWE).

“It’s so important to have that narrative and voice of the patients, as they are the experts. We are just there to facilitate and to bring that together and it’s so important their voice is heard within that journey, whether it’s industry or the healthcare system to best support the best interventions”


Health Psychologist, UK

Other points that resonated

  • As if to highlight further the importance of patient involvement at every stage of trial development, one delegate asked what types of established patient engagement tools they should be using, to which the panel expert answered that they should be working with patient groups to create ‘individual personalized assessment tools’. However, the expert did concede that quality of life (QoL) questionnaires and patient activation tools to assess willingness to engage and to tease out barriers were good starting points, if they were individualized with the help of patient advocates.
  • Patient engagement needs to be consistent over time when trying to bring new therapies to patients. “Confidence still needs to grow, action still needs to happen, but it’s heading in the right direction.”
  • Transparency of intent should be at the core of the relationship between pharma and patient groups. Pharma should be clear on the outcomes that each stakeholder will achieve from each partnership from the start, and maintaining regular updates on the status of clinical trials is important, even if there is no news. One patient commented on getting news last, via Facebook!
    • There is an ongoing need for RWE data to be published as plain language summaries (PLS) and translated into multiple languages.
    • These PLS should be checked with patients, not patient advocates who may have become familiar with specific terminology.
  • Often, during patient workshops, patient communities will politely dismantle pharma ideas and re-build them to fit their demands. This early involvement is more cost-effective in the long run. Healthcare professionals should also have their needs integrated in similar workshops.
  • Keynote speaker Yann Le Cam from EURORDIS noted a shift during this COVID-19 era towards digital, with 90% of people with rare diseases adapting to embrace solutions such as e-consultations, online disease management tools and e-prescriptions.
  • Psychological support, interventions and the importance of wrap-around initiatives are hot topics with patient groups. Pharma should be considering how these can be integrated into their patient centricity strategy.
  • Project HERCULES is an initiative run by Duchene UK, which is unique in its involvement of multiple stakeholders, including pharma, to develop effective tools for the use of clinical trials and to collect RWE that are reflective of the challenges patients face. Clinicians have a very different view of what is important in terms of QoL, because they only see patients once every 6 months, so most clinicians aren’t aware of the day-to-day challenges, suffering and pain experienced by patients.  Using multi-stakeholder advisory boards and steering committee, the campaign developed a meaningful, plain English tool to manage QoL impact for use in trials that was more relevant to the needs of Duchenne patients and more relevant for health technology assessments.
  • One non-pharmaceutical company speaker reminded patient advocates that there needs to be a recognition within the patient community of the challenges pharma companies face in presenting data and maintaining their business goals specifically in relation to share prices highlighting that “most of our pensions schemes are tied up with pharma”.

We’d like to leave you with this final and very interesting insight from a patient that relates to the perception of living with a disease. A patient with spinal muscular atrophy (SMA) shared that the sudden emergence of three treatments for SMA has been greeted with both joy by some of the SMA community and negativity by the other half. He felt that the outdated medical view of disability and ‘eradicating’ disability didn’t chime well with some parts of our community. It was a timely reminder to consider the needs and perceptions of patients before creating campaigns and messages offering a ‘cure’.

“It’s a dream for some and the Antichrist for others”