Rare Disease Day, 29 February, marks a moment in which Europe is facing a generational opportunity to scale up programmes capable of improving millions of lives. A new data-led, 360-comprehensive strategy is called for by rare disease experts.
Scientific and technological advancements, coupled with progress in European research and health policies, have been advancing the timeline, but not as fast or as effectively as patients need to address the unmet needs of an estimated 30 million people living with rare diseases across Europe.
A disease is considered rare when it affects fewer than one in 2,000 people. 75% of rare diseases affect children, while 70% have their onset during childhood. At the same time, over 90% of the more than 7,000 rare diseases do not have an approved treatment option, while 70% of people with rare diseases wait more than one year to get a confirmed diagnosis.
The EU’s existing rare disease framework is considered dated, leaving care in a disjointed state. Euractiv spoke at length with Jann Le Cam, CEO of EURORDIS- Rare Diseases Europe, he argued there’s a need for “a comprehensive new strategy to integrate all different areas.”
A ‘rare’ point in time
“Before the European Parliament election and the next Commission, we are calling for that European action plan for rare disease as a low-hanging fruit,” Le Cam told Euractiv. He argued that the timing seems to be appropriate for a new European Action Plan for Rare Diseases to be enacted.
There are, he says, more and more guidelines for good practice in diagnosis and treatment and over 250 medicines for rare diseases have been approved.
“We have a lot of ‘building blocks’ from the last ten years,” said Le Cam, “Examples of that are standards in research, biobanks, registries, and a new legislative framework on patient data across Europe with the European Health Data Space […] 24 European Reference Networks are engaging more than 1,500 healthcare providers.
This Network engagement now means more than 10,000 doctors are linked across different disciplines, diseases, and countries.
Need comprehensive strategy
But, according to Jann Le Cam, an essential element is missing: “There is a lack of a comprehensive strategy to integrate all these different areas in a 360-degree view from research to healthcare, powered by the data, that will also incorporate all member states in a common strategy at the European level.”
The call for a new Action Plan for Rare Diseases is also coming from the member states, with strong momentum coming through national strategies. According to EURORDIS, there are 23 national strategies for rare diseases, either adopted or being developed. In addition, the Czech presidency’s proposal for a European action plan received wide approval from member states.
“So, there is a bottom-up development”, said Le Cam, adding that there is also: “strong support from the European Parliament from the European Committee of Economic and Social Affairs. It should be a no-brainer.”
The progress made with Europe’s Beating Cancer Plan is considered another stepping stone for developing an EU Rare Disease Action Plan.
“Those kinds of efforts with flagship initiatives, with reinforcement of action, with a mission in research, are actions that can be done for rare diseases in the next period. And that would create a new momentum for a new cycle of 10, 20 years,” he explained.
He added that work has already been done on different levels for rare diseases, aiming at developing a strategic approach with concrete recommendations – creating maturity, readiness, and preparedness for developing and executing a rare diseases plan.
Pharma legislation opportunity
An update to the orphan drugs framework is also important for upscaling the quality of care for patients with rare diseases; and though EURORDIS sees the proposed EU Pharma legislation moving in the right direction, they believe some improvements are needed.
“We’re satisfied with the focus on unmet medical needs, but we are worried about the concept of high unmet medical needs. Also, on the practicalities of the modulation of incentives,” Le Cam said, calling for an interpretation which is broad enough to support medical needs effectively.
The initial intention of identifying the high unmet needs with no approved treatment and limited research and giving additional advantages for the ones investing in that area is good, according to the head of EURORDIS. But he calls for caution, as that orientation may demobilise and disinvest from other areas with a broader public health impact.
“We worry that when there is already a treatment approved in a disease area, it could be considered ‘job done’, that there is a treatment for the disease; that’s not true,”, he warned, adding: “There will be no development of therapies, approval, and access to these unmet medical needs if there isn’t a broader policy; innovation doesn’t happen in a vacuum. Research needs a robust research and healthcare environment.”
Compete, innovate
According to Jann Le Cam, several medicines are needed “to treat symptoms or to treat the causative effects or to treat the people who are refractory to a treatment.” He added: “You also need to keep the competition of innovation in order to bring down the cost of treatment.”
Only 5% of rare diseases have a treatment approved specifically for them – “[…] that doesn’t mean that it is a curative treatment that solves the problem,” Le Cam emphasised.
Improve diagnostics
“In general, we need to continue to raise more awareness and education about rare diseases among health professionals, mostly among family doctors and paediatricians,” said Le Cam. Currently, it takes a patient in Europe an average of over five years to get a diagnosis.
To improve this timescale, EURORDIS says it’s necessary to diagnose more people, avoid misdiagnoses, and improve the time to diagnose.
“And then,” said Le Cam, “[we need] to develop a culture of referring the patients to the right experts or the right hospitals and see if they need hospital follow-up or if it can be done by doctors in the cities.” He also underlines the importance of newborn screening, and even whole genome sequencing to ensure timely diagnosis.
A new focus on the key role data plays in providing quality care for people with rare diseases is required. Le Cam points out this will take the form of evaluating medicine risk-benefit, and effectiveness; real-world evidence for purchasers to know the value of what they are paying for.
He adds that for pharmaceutical legislation to deliver more treatments and further social progress, there must be a rounded, broader policy framework on rare diseases, and in all key health areas.
