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Revision of the EU pharmaceutical framework to ensure equitable access to rare disease therapies

April 2021

Despite scientific advances over the years, many people with rare diseases still lack access to effective therapies, and even more so, cures. The revision of pharmaceutical legislation at the EU level serves as an opportunity to address the needs of people living with a rare disease, drive further research, and ensure equitable access to orphan medicines across Europe.

Great progress has been made in the area of rare diseases in recent years, with nearly 2400 orphan designations leading to 199 orphan medicinal products authorised in the European Union since 2000. New medicines and treatments have helped increase average life expectancy and ensure a better life for millions of people afflicted with a rare disease.

However, for many people living with a rare disease, access to therapies can be challenging and sometimes impossible due to a lack of available treatment. Notwithstanding major advances in research, 31% of rare disease patients have never received treatment for their condition. Only 3% reported having benefited from treatment preventing the clinical manifestations of their rare disease, and 5% have received curative treatment directly linked to their condition. As a whole, over 90% patients report having unmet medical needs today.

People with rare diseases and their carers often feel isolated, under‐supported and face financial hardship when accessing specialised medical services. In 2019, at least 1/5 of people living with a rare disease had difficulties getting the treatment they needed because it was not available where they lived. As much as 12% reported not having been able to pay for the treatment they needed or get financial support to travel and receive the treatment in another country.

Rethinking pharmaceutical legislation

Equity should become a baseline in every healthcare policy at both the national and European level. This forms the underlying principle of the EURORDIS’ position paper on equitable access to rare disease therapies (2018), upon which our contributions to the revision of the Paediatrics and Orphan Medicinal Products are built.

It is also one of the central ideas outlined in the recently published Rare 2030 recommendations, a result of a two-year foresight study led by EURORDIS and over 250 experts from across the rare disease community. In particular, the conclusions set out the path to improving access to affordable and available treatment and increasing investment in innovation and research of new orphan medicines. This would translate into:

  • 1000 new therapies available by 2030, in line with the IRDiRC vision;
  • Approved treatment for 500 different rare diseases, covering 50% of the overall population of people living with a rare disease in Europe;
  • Curative, stabilising and symptomatic treatments for 200 of the 400 most frequent rare diseases covering over 90% of the population living with a rare disease;
  • Available curative or transformative treatments for at least 100 rare diseases from the group affecting less than one in 100,000; and
  • Overall, 3 to 5 times more affordable and available rare disease therapies.

“The lessons from the COVID-19 pandemic show that Europe needs to claim its ambition to be a world leader in health and to look at it as an investment rather than a cost. With the revision of the EU Regulations on Orphan Medicinal Products and the future EU Pharma Strategy, Europe has a unique opportunity to foster investment in rare disease research and innovation – where it can bring the highest added value – paving the way for a new generation of highly innovative treatments. Only by developing potentially curative and transformative treatments, reducing delays, and ensuring equal access to therapies can we truly leave no person living with a rare disease behind,” – says Yann Le Cam, Chief Executive Officer of EURORDIS-Rare Disease Europe.

In proposing legislation that will shape the way we do things for the next twenty years, Europe must confront what works and what doesn’t for people living with a rare disease. Whilst we appreciated the assessment and some of the options put forward on Orphan Medicinal Products and Paediatric Medicines Regulations, we believe there are still areas to be addressed.

In order for Europe to maintain its position as a global leader, EURORDIS is calling for:

  • Policy efforts that reach the rarest diseases, extending beyond benefiting only a few disease areas;
  • Research priorities set based on unmet need, not just the existing knowledge of a condition, the availability of existing treatments, or the severity of the disease and its prevalence;
  • A uniform, coordinated and person-centred approach to development and access to treatment for rare diseases in Europe, leading to greater investment in research and product development and creating sustained improvements in patient access and health monitoring;
  • A clear link with the proposed initiatives provided in the Pharmaceutical Strategy, notably on cooperation on access and price where Europe can have a real added value.

Learning from the pandemic

The global pandemic has brought about an unprecedented international response and a concerted effort across scientific, patient, governmental and regulatory bodies to tackle the COVID-19 outbreak. The coronavirus has shown the importance of European cooperation in research and innovation and a necessity for coordinated cross-border management. In these challenging times, united towards a common goal, Europe has put collaboration before competition, public safety before profits, and provided significant regulatory flexibility to help achieve the outcomes intended. The very same strategy and approaches enacted to fight COVID-19 can be replicated across to boost investments and research and ensure equitable access to therapies for people living with a rare disease.

“The COVID-19 pandemic has demonstrated that equal access to medicines across Europe, something that has long been advocated by patient groups, is now feasible. The inception impact assessment of the EU pharmaceutical framework serves as a chance to foster EU-wide coordination and make sure that no person living with a rare disease is left without treatment for their condition,” – adds Simone Boselli, EURORDIS Public Affairs Director.

We have a unique opportunity to rethink the EU pharmaceutical legal framework and build a better future for people living with a rare disease. With the evaluation and revision of the general pharmaceutical legislation on the horizon, we stand at a crossroads, with the ability to influence future legislation in a positive manner for our patient community through the application of hard-fought insights gained in the crucible of COVID-19.

EURORDIS and its community stand ready to provide input to enabling solutions that are truly patient-driven and answering unmet patient needs.

EURORDIS urges patient organisations and other interested stakeholders to provide their feedback to the European Commission roadmap on the evaluation of the general pharmaceutical legislation by 27 April 2021. EURORDIS is establishing a common position based on its members’ views to stipulate the research and development of orphan medicines and foster equitable access to rare disease therapies across Europe.

For more information, please contact Simone Boselli at

Stanislav Ostapenko, Communications Manager, EURORDIS

Traducteur : Trado Verso
Übersetzer: Peggy Strachan
Traductor: Conchi Casas Jorde
Traduttrice: Roberta Ruotolo
Tradutores: Ana Cláudia Jorge e Victor Ferreira
Перевод: Talkbridge