Roughly 36 million people in the European Union are living with a rare disease, defined as a disease or condition affecting less than 1 in 2,000 people. They face numerous hurdles in achieving a diagnosis, finding appropriate care and accessing treatments – which are scarce: more than 90 percent of the more than 7,000 known rare diseases still lack a treatment option. To better address the unmet needs of the rare disease patient population, appropriate reforms to the Orphan Medicinal Products (OMP) regulations are vital, as are other supportive EU policies.
The right balance of policies is incredibly important for the rare disease community. Many people who are living with a rare disease face a long diagnostic journey, taking more than five years and visits to numerous specialists before arriving at a diagnosis. In some countries, the journey could take even longer because of limited access to diagnostic tools, specialised care or general awareness of and education about rare diseases. Patients are often misdiagnosed, their concerns dismissed by health professionals in an overburdened health care system. For patients and caregivers living in rural areas or underserved communities, these challenges are even more profound. Thus, policies need to ensure health equity for these populations across the EU, enabling them to receive an earlier diagnosis, gain better access to the specialised care that they need, lessen the economic burden for these patients and their families, and encourage further investment into the research and development of treatment options.
Proposed changes to OMP and their potential impact on rare disease research
Through concerted efforts among health care system stakeholders, there is an opportunity to make a positive difference. In its current form, the OMP has generated tremendous scientific progress for the rare disease community. Since its inception in 2000, the law has been a catalyst for the discovery and authorisation of more than 200 orphan medicines. Without it, one analysis found that from 142 orphan medicines developed between 2000 and 2017, over half (74) would not have been economically viable for development, underscoring the importance of these EU policies for patients.
Yet that progress could be hindered through proposed changes to the OMP regulations. Granted, a revision to the pharmaceutical legislation in the EU is much needed to ensure it remains fit for purpose, but there are several proposals that risk undermining the success of the OMP framework altogether. These changes could discourage future investment and scientific progress in rare disease drug development and ultimately augment the inequity in access to medicines throughout the EU.
To begin with, pharmaceutical investment – particularly in high-risk areas such as rare diseases, which have R&D challenges from bench to bedside – requires clarity around the criteria that must be met for market authorisation and the commensurate economic incentives. The proposed OMP regulation reduces guaranteed data exclusivity periods for orphan drugs and offers variable periods of market exclusivity based on whether a treatment meets arbitrary, unclear or unrealistic preconditions. The current EU system is built on the foundation that a guaranteed, longer exclusivity creates a viable opportunity for industry to pioneer in high-risk areas, allowing costs to be spread over a longer period of time to support health system sustainability. Shortening the exclusivity periods undermines this foundation, potentially rendering research into some rare diseases no longer viable, or risking increasing the cost of orphan drugs to EU Member States at a time when health system affordability remains a critical challenge for many countries.
“To better address the unmet needs of the rare disease patient population, appropriate reforms to the Orphan Medicinal Products (OMP) regulations are vital”
Studying rare diseases is challenging because the disease may manifest differently among patients, and the small population size requires researchers to take a unique approach to testing potential treatments. For this reason, conducting research on licensed treatments that are proven safe and effective and could be effective in different disease areas may offer a greater chance of success for patients than starting from scratch. The proposed EU regulation, however, discourages these kinds of efforts to build on existing knowledge by drastically reducing or eliminating incentives for additional orphan indications, to the detriment of patients. It mirrors similar problematic policies in the United States.
Additionally, identifying and addressing barriers to access in EU Member States and supporting value-based health care delivery and early access schemes are important steps in improving access to care. While the proposed OMP changes attempted to mitigate some of these challenges, it does not address the disparity throughout the EU Member States of structural approaches to diagnosis, patient management, observation of outcomes and innovative pricing and reimbursement that fundamentally impact the availability of treatments throughout the EU.
Leveraging other policies to address unmet needs
Irrespective of these warnings, it may be many years – likely not in this decade - before the effects of such regulatory changes will be felt by patients. For the many EU patients living with a rare disease, a faster, more impactful, and more certain solution should be demanded of decision-makers in Europe.
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Health care policymakers can build on the proposals outlined in the Rare 2030 Foresight Study, initiated by the European Parliament and co-funded by the European Commission Pilot Project and Preparatory Actions Programme. Rare 2030 outlines eight key steps to promote needs-based innovation, ranging from the implementation of consistent national plans and strategies and improving access to diagnostics, to making rare disease research a priority and improving how relevant sources of data are shared across heath care networks.
Similarly, the playbook developed by the European Beating Cancer Plan provides a useful model for policymakers to follow in the development of the European Action Plan. The playbook combines hands-on, scientific guidance, coupled with centralised funding, to catalyse research and investments to address patients’ unmet needs.
It is essential that the OMP and other policies continue to demonstrate commitment to reduce inequalities in healthcare by incentivising innovation and investment in Europe. Furthermore, regulatory frameworks need to be modernised to keep pace with the latest advances in science and technology and new policies need to prioritise continued improvement for patients to access much-needed treatments. This is especially true for rare disease patients who too often endure a long and difficult path to treatment, and for those awaiting discovery of new therapies. All stakeholders must work together to deliver policies that accelerate the discovery of new medicines and leverage technologies to improve diagnoses. These are critical steps to ensure continued forward progress for the rare disease community.
In partnership with
This article was produced in partnership with Alexion.