Setting the scene for the future of people living with rare diseases

The time is now to build partnerships across the medicine lifecycle and patient journey to further strengthen the rare disease eco-system, writes Ricardo Marek

By Ricardo Marek

President Europe and Canada at Takeda

28 Feb 2023

More than 20 years ago the European Union (EU) set the foundation for better treatment of the 6000 – 8000 identified rare diseases[1]  with the adoption of the Orphan Medicinal Products (OMP) Regulation[2]. Back then only a few medicines were available for rare disease patients and just last year we celebrated the 200th Orphan Drug in Europe[3]. This is considered a European success story and shows that targeted incentives could allow focused attention on those diseases which are often neglected.

This momentum within the EU needs to be maintained and the months ahead are going to be critical. The revision of the General Pharmaceutical Legislation and the OMP Regulation will set the groundwork for how the EU will go forward when it comes to tackling rare diseases across the EU.


This article was commissioned as part of a series focused on Rare Disease Day 2023, in partnership with Takeda, Eurordis, Efpia and Eucope. Click here to read the full report


Whilst we should further evolve the EU incentives framework based on a broad definition of orphan designation and unmet medical needs to reflect and adapt to the constant scientific and technological advances, we must avoid putting artificial limitations on science and research. The purpose of this framework is to incentivize and direct innovation towards unmet needs, and to best serve this purpose we should also avoid using it to tackle the inequality of patient access, that needs to be addressed through more suitable alternatives at local, country and EU level as highlighted in the EFPIA-EURORDIS joint statement[4].

"Let us make sure that the more than 30 million patients suffering from a rare disease across the European Union not only are not forgotten, but have their voice heard in the policy-making process."

Other potentially impactful solutions to address remaining unmet medical needs could include fostering a broader use of adaptive pathways, to provide optimal access to treatment for patients by accelerating patient recruitment and the use of more flexible clinical outcomes. In combination with enhanced use of digital tools in clinical trials, we can increase the chances of approval by generating improved quality data. These efforts are likely to lead to a much-needed acceleration of the approval of innovative treatments.

As Takeda, we are strongly committed to the Rare Disease community and support their call to make rare diseases a public health priority on the EU’s policy agenda. On April 17th, together with our partners, we will be engaging in the second edition of the Nordic Rare Disease Summit, where we will be touching upon the shared solutions which aim to address the challenges for rare disease patients. This summit has been launched in partnership with Rare Diseases Denmark, EURORDIS and many other expert stakeholders from across the Nordics and EU Healthcare community, with the goal of elevating rare diseases as a health priority in the region and throughout the Swedish presidency of the EU.

The last couple of years have been marked by uncertainty and rare diseases patients needs have been significantly challenged.[5][6] Let us make sure that the more than 30 million patients suffering from a rare disease across the European Union not only are not forgotten, but also have a seat at the table and their voice heard in the policy-making process.[7]

Takeda will continue to actively engage and work with all stakeholders and partners involved to find solutions that help keep the momentum and make rare diseases a European priority on the policy agenda with the aim of adopting an action plan on rare diseases in Europe.

 

[1] European Commission, Directorate-General for Research and Innovation, (2022). Collaboration : a key to unlock the challenges of rare diseases research, Publications Office of the European Union. https://data.europa.eu/doi/10.2777/831246

[2] European Parliament and the Council of the European Union Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products. Official J Eur Communities. 2000;43:L18.

[3] Orphan medicinal products. European Commission website. (2022). Retrieved 25 January 2023, from https://health.ec.europa.eu/medicinal-products/orphan-medicinal-products_en.

[4] EFPIA. EFPIA- EURORDIS joint statement on patient access to medicines for rare diseases. June 2022. Available from: https://www.efpia.eu/media/637073/efpia-eurordis-joint-paper-on-access-to-medicines.pdf.

[5] Zhang, H., Thygesen, J. H., Shi, T., Gkoutos, G. V., Hemingway, H., Guthrie, B., & Wu, H. (2022). Increased COVID-19 mortality rate in rare disease patients: a retrospective cohort study in participants of the Genomics England 100,000 Genomes project. Orphanet journal of rare diseases17(1), 1-7.

[6] https://www.eurordis.org/publications/how-has-covid-19-impacted-people-with-rare-diseases/

[7] European Commission, Directorate-General for Research and Innovation, (2022). Collaboration : a key to unlock the challenges of rare diseases research, Publications Office of the European Union. https://data.europa.eu/doi/10.2777/831246

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