In 2009, the first comprehensive policy for Rare Diseases was established at the European level. Charlotte Rodwell, the Partnerships, Tech Transfer & Strategic Communications Officer at Orphanet, told NPF Covering Rare Diseases Fellows what the recommendations have accomplished so far, and what still needs to be done.

Key points from the 2009 recommendation:

• National plans and strategies: the EUCERD joint action programme (March 2012 to August 2015) supports EU governments in developing national strategies.
• Definition and codification: for EU purposes, a rare disease affects no more than 5 per 10,000 persons. The EU has established a database, Orphanet, which links together over 6,000 diseases and operates in 7 languages.
• Research: the EU has funded almost 120 collaborative research projects with a total budget of over €620 million.
• Centres of expertise: the EU-co-funded 4-year rare diseases best practices project (January 2013-December 2016) is helping develop standards and procedures for clinical practice guidelines.

The recommendation for nations to develop a national plan or strategy “brought about a lot of change at the European Level,” Rodwell said.

By early 2014, 18 countries had national plans in place (compared to only six in 2008). And Rodwell says, “Six had submitted them to national authorities, and four were nearly there in the finalization stages.”

The plans were “quite heterogeneous,” Rodwell said. “And some plans were more high-level and necessitated transposition into a concrete action plan, and some did not even have dedicated budgets. So, they somehow were more a political message rather than actually putting into maybe more concrete policy measures.”

However, most of the plans did include the following priorities: Identifying centers of expertise for rare diseases, the implementation of ORPHAcodes, an emphasis on registering rare diseases in a national register database and an emphasis on promoting access to information on rare diseases.

The Impact of the European Reference Networks

The identification of expertise was used for the creation of European Reference Networks, which is one of the success stories of rare disease policy in Europe, Rodwell said.

In 2017, around 24 clinical specialties were established in the European Reference Networks. The membership was extended in 2019 to bring in countries and more toward the east of Europe, she said.

“The aim of these networks are to facilitate discussion on complex or rare diseases and conditions that require very highly specialized treatment and concentrated knowledge and resources.”

These European Reference Networks have a specific Clinical Patient Management System to manage patients across the border, Rodwell said.

“Around 900 healthcare providers across Europe make up the ERNs in over 300 hospitals in over 26 member states. The healthcare providers are designated by the national authorities and the fact that the groundwork had been laid through the national plans for rare diseases and the designation processes helped greatly.”

Orphanet is a ‘flagship initiative’ of the EU, says Rodwell. 

Orphanet, a multilingual knowledge base on rare diseases and orphan drugs, was established in 1997 but became a European endeavor in 2000.

“And what we do is we annotate different scientific, textual, and resource-based knowledge with the appropriate rare disease so that when somebody goes and consults Orphanet, they can access all this knowledge by entering in the name of a disease or a gene in the search field.”

ORPHAcodes, which stands for the Orphanet nomenclature of rare diseases, aims to maintain a standard way of describing a rare disease.

“Rare disease data we’ve seen is rare and scattered and one of the problems is identifying this data. The idea is if you use this common way of describing them with these common codes, you will be speaking the same language,” Rodwell said.

“We’ll be able to amass the critical massive information for solid epidemiological studies, produce data for public health and health economics purposes, and document better the natural history of rare diseases.”

Collectively working towards a new vision for renewed European policy.

The Rare 2030 Young Citizens, a group representing a new generation of advocates, patients and actors in the rare disease community, published their own policy recommendations in February 2021.

They want a structured approach in future policy to bring about long-term integrated European national plans and strategies, earlier, faster and more accurate diagnosis, access to high-quality healthcare, optimization of data for patient and societal benefit, integrated and person-centered care, partnership with patients, innovative and needs-led research and development and available, accessible and affordable treatments.

“We decided that we wanted to see a Europe for rare diseases that had collective accountability and solidarity between citizens and countries with diseases as a policy priority,” said Rodwell. “And we wanted to see research that was not market-led, but patient needs-led with a deep understanding of needs as a starting point in the innovation process.”

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This program is sponsored by Fondation Ipsen. NPF is solely responsible for the content.