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Revisions for the better: How Europe should boost the development of rare disease medicines

Март 2023

The European Commission will very shortly be releasing their proposed legislative revisions to the Orphan Medicinal Products (OMP) Regulation, which was first introduced by the EU in 2000 to boost industry investment into the development of medicines for rare diseases.

Since its introduction, the OMP Regulation has been positively transforming the health care and lives of many Europeans who live with a rare condition.

However, 23 years is a long time in the world of scientific and regulatory developments, and a modernisation of the Regulation has been long overdue. This is especially true given that only 6% of all the known rare diseases have an approved treatment option, and 22% of people with a rare disease cannot get the treatments they need because they are not available where they live. Furthermore, 69% of rare disease patients have received only symptomatic treatment for their rare condition.

The Commission’s highly anticipated revisions will therefore be key to improving the Regulation and to further boosting research and development in orphan medicines. While the Commission’s proposed Revision has yet to be formally adopted, we perceived from a recently leaked draft text a number of shortcomings that we hope will be addressed – either by the Commission ahead of the official publication of the Revision, or by policymakers across EU institutions as the Commission’s proposals make their way through the legislative process.

We are keen to see improvements in four main areas:

  1. Addressing all unmet needs
  2. Strengthening patient engagement
  3. Clarifying terminology
  4. More targeted incentives

1. Addressing all unmet needs

The leak revealed that the Commission plans to maintain the prevalence threshold for the designation of orphan medicines at 5 in 10,000 – meaning that a medicine may be eligible for orphan designation if it relates to a condition that affects 5 in 10,000 people. We welcome this, given that any lowering of this threshold would have left out many diseases without any hope for therapeutic options being developed.

However, absent from apparent plans is the introduction of an incidence criterion, as is already used in rare cancers (which are cancers affecting 6 per 100,000 persons per year). Introducing an incidence criterion would help focus the model for incentivising rare disease medicines removing those conditions that are artificially rare because of the prevalence calculation.

Another valuable measure would be the introduction of definitions for ultra— or very rare diseases, making sure no rare disease patients are left behind.

2. Strengthening patient engagement

The experiences, preferences and hopes of people who are from the rare disease community must always be heard and acted on from within the structures and processes of the regulatory ecosystem for incentivising new medicines’ development.

The leak revealed some positive plans to bolster patient engagement, such as having patient representatives included in the work of the European Medicines Agency’s (EMA’s) Committee on Human Medicinal Products (CHMP).

However, other parts of the leak exposed a lack of clarity on whether and how patients and their representatives will be included in certain foreseen working parties and expert groups. For example, it is unclear whether there will be cross-cutting working parties on orphan medicinal groups or paediatric medicines, which must also be permanently established with the adequate inclusion of patient representation.

3. Clarifying terminology

The legislative changes that eventually come into effect must make the system for incentivising rare disease medicines’ development more robust. Yet, in what we’ve seen so far, it appears the Commission’s proposals may contain excess room for interpretation in certain areas, which could potentially jeopardise the robustness of this system.

The leaked proposals’ definition of the ‘significant benefit’ of a medication may risk rendering more difficult the orphan designation of any medicinal products other than ‘pioneer’ or first-in-class medicines, while progress in incremental innovation remains much needed.

Clarification is also needed with regard to what constitutes “a meaningful reduction in disease morbidity or mortality for the relevant part of the population”, and other terms such as “significantly debilitating” or “therapeutic advancement” must be clarified.

4. More targeted incentives

The Revision of the OMP Regulation should be seen as providing a key opportunity for the EU to become the world leader in rare disease medicine and clinical research. Key to this overarching ambition must be modulating incentives so that industry is more encouraged to develop medicines that best address the unmet needs of people living with a rare disease pursue. Yet the leak exhibits considerable room for improvement in this area, and the Revision would benefit from considering the incentive modulations that were promoted in our Proposal on the Revision of the Orphan Medicinal Products and Paediatric Regulations of November 2022.

Incentives could also be targeted to encourage industry to develop medicines for conditions that currently have no therapeutic options.

Another targeted modulation of incentives, which should be included in the upcoming Revision, would be the proposal of awarding to a developer an additional year of market exclusivity for first launching a product in the European market. Such a measure would draw greater investment toward clinical trials taking place on the continent, enabling treatments to reach EU citizens faster and placing Europe on a more competitive footing with the US on rare disease medicine development.

Let’s seize the opportunity

There is much that the Commission is planning to propose that we welcome, from maintaining the aforementioned prevalence threshold to keeping the rewards of market exclusivity lengthy and globally competitive.

Yet it is vital that the proposed Revision to the OMP Regulation addresses the wide range of unmet medical needs affecting Europe’s rare disease population, and the European Commission must fulfil this obligation in the final stretch of preparing its proposals.

We hope that the Commission lives up to this obligation by reforming the orphan medicines ecosystem in such a way that it achieves success by design, but EURORDIS and Europe’s united rare disease community will stand ready to work with Members of the European Parliament and Member States through the Council of the EU as the proposals pass through their legislative journey.

To learn more about EURORDIS’ own position on the legislative changes needed in this policy area, read our November 2011 Proposal on the Revision of the Orphan Medicinal Products and Paediatric Regulation.

Julien Poulain, Communications Manager