Rare Disease Day is an opportunity for reflections

The last day of February, Rare Disease Day, is always an opportunity to reflect on the successes and opportunities to deliver for patients living with a rare disease in Europe. For myself, it is always extremely important to continue to raise awareness and develop innovative orphan drugs for patients living with rare diseases.

In the past 20 years, major scientific and technological progress in biotechnology as well as European supportive policies have enabled an increasing number of life-changing therapies to reach patients. Looking into the pipeline, disruptive biotechnology platforms have the potential to reach patients in the short- to-mid-term with other early-stage technologies further on the horizon.

The successful development of medicines for rare diseases requires the mobilisation of the entire innovation ecosystem. Scientific breakthrough from academia, disruptive application from emerging companies, and scale-up from established pharmaceutical companies complement each other to deliver ever-better innovative therapies to patients.  At Merck, we are committed to develop innovative medicines to address areas of unmet medical need.

A thriving ecosystem supported by the EU Orphan Regulation

The EU Orphan Medicinal Products (OMP) Regulation has delivered significant societal benefits by incentivising increased investments into R&D for treatments for rare disease patient populations, and especially for the rarest diseases, overcoming limited market potential to deliver therapies were very few or none existed before. By 2021, the European Medicines Agency (EMA) had approved 207 initial marketing authorisations for orphan medicines and 38 extensions to orphan indications for 148 conditions.[1] In 2022 only, the EMA recommended the authorisation of 21 orphan medicines.[2]

By mitigating the risks of failure for companies and introducing a more stable regulatory environment and predictable rewards, the OMP Regulation has enabled the emergence of a network of biotechnology SMEs to enter the rare disease space and apply disruptive technologies towards therapeutic innovation. On their journey from discovery to commercialisation, SMEs and pharmaceutical companies collaborate to discover innovative medicines.  Europe now has a thriving ecosystem that leverages the strengths of each actor to deliver innovation to and for patients.

As the European Commission finalises the revision of the OMP Regulation, it is essential to build on the successes of the Regulation in bringing innovative orphan medicines into the European Market and further innovation for rare diseases affecting the greatest number of potential patients and develop therapies for very rare diseases.

Supporting the ecosystem, delivering for patients

The recent intelligence on proposals for the revision of the OMP Regulation has heightened concerns in the rare disease community. Although the foreseen provisions aiming at streamlining and modernising regulatory pathways are positive steps forward, in their current form, the proposals would significantly decrease investments in R&D for rare diseases and the EU’s attractiveness as an early launch market. Further investment and research in medicines addressing more than one rare

disease will be compromised by the lack of incentives in Europe. Moreover, reinvestment in well-established medicines for developing new orphan indications is no longer incentivised appropriately.

The revision of the OMP Regulation is a unique opportunity to build on two decades of successes to accelerate the development of orphan medicines, including in areas of white spots by rewarding frontrunners with additional incentives. Hopefully currently discussed ideas to weaken incentives, upset the stability and predictably of the system, and reduce the number of medicines seeking an orphan marketing authorisation will not be pursued by the European Commission in their final draft legislation, expected to be published end of March.

EuropaBio, the voice of Europe’s growing biotechnology community

Working with innovators, policymakers, patients’ representatives, and regulators EuropaBio leverages the strength of the biotechnology ecosystem to ensure Europe remains a region of healthcare innovation.

EuropaBio is perfectly positioned to raise the voice of the biopharmaceutical community and ensure that the upcoming revision of the OMP Regulation supports the continued growth of this thriving ecosystem.

[1] European Medicines Agency (2022). Orphan Medicinal Product Designation: Overview 2000-2021, available online here, pp. 14-15.

[2] European Medicines Agency (2023). Human Medicines Highlights, available online here, p. 12