Set against the backdrop of the Belgian Presidency of the Council of the EU, Rare Diseases Forum came to Brussels this year on April 16th, bringing together a wide range of stakeholders to discuss a European rare disease Action Plan that aims to help Europe secure competitiveness in R&D for rare disease therapies. 

Although much has been achieved over the last 30 years for rare disease patients in Europe, through policies, regulations and scientific advancements, Europe has been facing increasing competition in rare disease therapy development, particularly from the US and China. As a result, Europe has found itself falling behind, both in terms of R&D expenditure and the number of clinical trials. 

Further, as highlighted in the keynote speech at the conference by Nathalie Moll, Director General at EPFIA, the EU was previously considered the “world’s pharmacy” up until the end of the 1990s, which contrasts starkly to the picture of today, where only 1 out of 5 innovative medicines are created in the EU. 

However, the European commission has made efforts to turn the tide, with policies including the recent Antwerp Declaration (which calls to revitalise Europe’s industrial landscape) and the Annual Report on the Single Market and Competitiveness, aiming to re-establish a globally competitive biopharmaceutical sector in Europe. 

Capitalising on this momentum, and especially in the context of the European Union anticipating the arrival of the new European Commission and MEPs for the 2024–2029 term, calls for a rare disease Action Plan grow louder – with the rare disease sector being particularly well-placed to benefit from, and enhance, Europe’s competitiveness agenda.


The importance of EU competitiveness for rare disease patients 

Why aiming to increase EU competitiveness is so important for the rare disease community was discussed in the conference’s first panel session of the day, which highlighted how Europe’s decreasing competitiveness risks increasingly negative impacts on orphan drug R&D, innovation, investment and, ultimately, patient access to therapies.

Stefan Joris, CEO of the Belgian Cystic Fibrosis Association and Chairman of Rare Disease Belgium, explained that the lack of EU competitiveness means that rare disease patients remain “invisible” even at the fundamental level – drawing attention to the fact that estimates regarding how many people actually live with rare diseases in Europe vary widely from 30–36 million, due to a lack of investment in data standards.

Alexander Natz, Secretary General at EUCOPE, then went on to discuss how a country or region’s regulatory framework is ultimately what enables companies to invest in the drug development process, so legislation concerning orphan drug regulatory approval is foundational to securing EU R&D competitiveness and, ultimately, to bringing rare disease patients the therapies that they need. 

Nathalie Moll later expanded upon these comments, explaining that “getting it right” with the legislation coming out of the new European Commission is paramount to reversing the dependence on the USA as the main source of orphan drugs in Europe, which prevents Europeans living with rare diseases from benefitting from treatments during the clinical trial period, and negatively impacts innovation in the European drug development space overall – having detrimental knock-on effects for patient access to orphan drugs.


How to achieve R&D competitiveness for rare diseases in Europe 

The next major theme of the conference examined how securing competitiveness in Europe for the rare disease sector could be achieved. 

Anne-Sophie Chalandon, Head of Global Public Affairs, Rare Diseases & CGT Policy at Sanofi, outlined how collaboration to construct a comprehensive EU-level policy framework that can help to drive a collective strategy across all 27 EU member states is crucial. She described how member states should have a common alignment on improving rare disease diagnosis rates, accelerating clinical trials and finding new drug candidates.

Several panelists touched on the points that Yann Le Cam, Outgoing Chief Executive Officer at EURORDIS, had summarised earlier in the day– namely, that creating an attractive environment for R&D in Europe should focus on four key themes: creating economic incentives to invest in R&D, implementing infra-structure changes in healthcare and regulatory systems, developing private–public partnerships, and improving data standards.

Indeed, data quality was consistently raised across the panel as a key challenge to achieving competitiveness in the rare disease sector in Europe, with Anne-Sophie Chalandon stating that a better understanding is required of both what patient data needs to be collected, and of the size of the rare disease patient population. 

Yann Le Cam also raised the point that some rare diseases may be more common than is currently thought due to data gaps, and that being able to better understand how to find rare disease patients is important. To tackle such issues, he called for an approach that focuses on the potential of new technologies, such as AI and genetic studies, which could also bring about significant progress regarding patient diagnosis.

The genetic datamining technology at HealthLumen is an example of how new technologies can help to address some of the data gaps in the rare disease space, by providing accurate estimates of the patient population size of rare diseases that have a known genetic basis. The methodology involves analysing large genetic databases, such as TOPMed and gnomAD, assessing the number of individuals carrying the genetic variants associated with a particular rare disease of interest, and extrapolating these prevalence figures to other populations of interest, accounting for the ethnic makeup of these populations.


Closing remarks 

Bringing Rare Diseases Forum 2024 to a close, Jean-Christophe Tellier, Chief Executive at UCB, called for several key actions in his closing speech. He outlined how a significant, collective shift in mentality is needed in the rare disease space in order to bring these conditions to the foreground as a priority global health concern, and that work must not stop until rare disease patients receive the treatments that they need. He highlighted the need to accelerate these efforts, stating that the technology to do so already exists, but the willingness to exploit them for the benefit of rare disease patients must now be mobilised as an integral part of the EU Action Plan for rare diseases.

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