ECRD 2022: Tackling Mission (Im)Possible in rare disease

There’s no event quite like the European Conference on Rare Diseases and Orphan Products (ECRD). Taking place every other year, this unique forum brings together stakeholders from across the rare disease space – from researchers and clinicians to patient advocates and policymakers. And this year’s theme was particularly ambitious:

Mission possible: putting rare disease policy into action

A recurring topic throughout the sessions was innovation. It might sound like an often-used buzzword, but in rare disease, there’s so much more to it than meets the eye. Innovation isn’t just about the development of cutting-edge treatments; instead, it’s an attitude that should filter through to every part of the rare disease journey. The speaker sessions brought to life a number of examples where this is happening already – and where it might go in future.

Innovation in diagnostics

The first step on any patient journey is – or should be – diagnosis. A diagnosis puts an end to patients’ uncertainty and allows treatment to begin. For some conditions, starting treatment early is crucial to outcomes, so getting a diagnosis as early as possible is even more important.

Spinal muscular atrophy (SMA) is one of those conditions. That’s what brought about the European Alliance for Newborn Screening in SMA, which seeks to ensure every child born in Europe is screened for SMA. Marie-Christine Ouillade, of SMA Europe, gave an overview of the Alliance’s work to date – both in raising public awareness and pushing for change with policymakers.

Winning the EURORDIS Black Pearl Award for patient engagement, the Alliance and its success so far takes us a step closer to standardised newborn screening for SMA across Europe.

Innovation in treatment access

Developing innovative new therapies and getting them to market isn’t enough. Even for curative or life-changing treatments, the impact is zero if patients can’t access them. But in rare disease – where patient numbers for an entire country can be in single digits – achieving universal access is a tricky feat.

One programme that has already set out to tackle this is the Advanced Therapy Treatment Centre. This UK Research and Innovation (UKRI)-funded project brings together over 800 people from industry, academia and the public sector, with the aim of improving access to cell and gene therapies in the UK. Mark Briggs, Assistant Director of Innovation at Cardiff and Vale University Health Board, gave a fascinating overview of the initiative, and shared how its training, resources and guidance have been accessed by thousands of NHS colleagues.

There’s still much more work to be done, but the valuable lessons learned from this project will help shape treatment access decisions for years to come.

Innovation in health data

Health data has boomed over the last decade, with wearables, medical devices and digitisation of health services allowing collection and analysis of personalised data. But for clinicians managing patients with rare diseases, it can be challenging to appropriately assess and monitor the long-term course of a disease, when you’re unlikely to have come across it before, or ever see it again.

The European Health Data Space (EHDS) is determined to help remedy these challenges. An EU-wide initiative, the EHDS is driving a single-minded, uniform approach to the collection and use of health data, helping to improve primary and secondary care use of data for all health challenges.

Currently live in 10 EU member states, one of the EHDS aims for 2022 includes the sharing of rare disease data. However, with such huge data sets to review and no standardisation protocols in place, there’s a huge task ahead for those involved. However, Jelena Malinina, Patient Data Director at EURORDIS, is optimistic the hard work will pay off, providing an exciting talk on the almost universal excitement from patients with helping to improve rare disease care and research.

With 97% of polled patients willing to share their data to improve research on their disease, and 95% willing to share their data to improve research for other diseases, the task ahead – of building protocols and navigating ethical hurdles – will unlock the potential of currently untapped data.

Innovation in healthcare communication

At the ECRD, it was clear the challenges of rare disease identification and management continue to be at the forefront of the minds of clinicians, researchers and supporting professions. There was also hope that some of the long-thought-impossible challenges may soon become possible, with innovations in diagnostics, treatment access and data collection and analysis unlocking the potential in everyday practice.

For marketeers, we have a duty to understand and explore the implications these innovations have on what’s possible in our communications. There are prime opportunities to support clients in advocating and educating clinicians on diagnostic protocols, and generating resources for all professions involved in access to treatment – with clear education across digital formats on gene therapies and their transformative nature for patients.

Health data perhaps offers the greatest opportunity for us in marketing. With digitisation of almost all aspects of our health, bespoke patient eServices and digital resources can go further than helping patients manage their condition and providing healthcare professionals with out-of-the-clinic oversight. These communications could potentially help support wider initiatives, through lobbying policymakers, educating payers, empowering patient advocates and facilitating Europe-wide scientific exchange.

This year’s ECRD has been a triumph in demonstrating the innovations in rare disease management, and it’s exciting to look ahead to what 2024’s event may bring. In the meantime, we can begin to make the most of these innovations in our communications, working in partnership with life science companies to transform care for patients with rare diseases today.