Rare diseases affect some 6-8% of the European population. Here, SciTech Europa looks at what is being done to tackle them, and introduces a new working relationship with the Austrian MPS Society.
According to the European Commission, in Europe rare diseases or disorders can be defined as those which affect less than five in 10,000, and while ‘that number may seem small…it translates into approximately 246,000 people throughout the EU’s 28 member countries. Most patients suffer from even rarer diseases affecting 1 person in 100 000 or more, the EU adds.
Given that estimates suggest 5-8,000 rare diseases affect 6-8% of the EU population – between 27 and 36 million people – the Union has approached this by pooling scarce resources that are currently fragmented across individual EU countries. The Commission holds that ‘joint action helps patients and professionals share expertise and information across borders’. Specific EU measures include:
- Ensuring that rare diseases are adequately coded and traceable in all health information systems;
- Encouraging more research into rare diseases;
- Improving recognition and visibility of rare diseases;
- Evaluating current screening population practices;
- Creating European reference networks linking centres of expertise and professionals in different countries to share knowledge and identify where patients should go when expertise is unavailable in their home country;
- Strengthening European-level co-operation and co-ordination;
- Supporting rare diseases registries and providing a European Platform for rare diseases registration; and
- Supporting national plans for rare diseases in EU member countries.
Patient organisations are also particularly important, the Commission says, because they provide additional incentives for developing orphan drugs to combat rare diseases.
The Commission has also helped to establish European reference networks (ERNs), which are designed to help professionals and centres of expertise in different countries to share knowledge. According to the Commission, ERNs should:
- Apply EU criteria to tackle rare diseases requiring specialised care;
- Serve as research and knowledge centres treating patients from other EU countries; and
- Ensure the availability of treatment facilities where necessary.
On the occasion of Rare Diseases Day on 28 February 2018, an event was held at the European Parliament in Brussels entitled ‘European Reference Networks – Accelerating and Improving Diagnosis for Rare Diseases Patients’. This event held that ‘European Reference Networks (ERN) connect Excellence Centres across Europe with the aim of tackling complex or rare medical diseases requiring highly specialised knowledge and resources.’
Speaking at the event, the European Commissioner for Health and Food Safety, Vytenis Andriukaitis, expressed his gratitude for the continuous work that the ERNs are doing “for patients, alongside healthcare professionals, researchers, policy makers and hospital managers – working together to improve the quality of life of millions of people in Europe suffering from a rare disease.”
He added: “Since the adoption of the Cross-Border Healthcare Directive in 2011 we have come a long way:
- We built a legal framework for the ERNs;
- We launched the first call and the ERN Board of Member States approved the 24 Networks; and
- Today these Networks are operational and we see first patients are now directly benefiting from this European innovative co-operation.”
Nevertheless, the Commissioner acknowledged that there is still have a long way to go.
Using what has been achieved in the area of clinical care as an example, Andriukaitis said: “The Networks’ key IT tool – the Clinical Patient Management System – was launched on 20 November 2017, and by now already 67 consultation panels have been opened.
“On knowledge generation and knowledge sharing, by gathering a pool of patient data, ERNs are already very well placed to facilitate large clinical studies to improve the understanding of diseases and support the development of new medicinal products.
“Now that the framework is in place and the ERNs are up and running, we need to focus on how to maximise their effectiveness and ensure their sustainability,” he concluded.
He then used his presentation to highlight what he sees as three immediate challenges: “The first and most important challenge is to ensure the integration of ERNs into national or regional healthcare systems. This includes:
- Assessing changes required in the legal framework of each Member State to properly integrate ERNs into their healthcare systems;
- Deciding on the pathway and mechanism for referring patients to an ERN; and
- Defining how Member States support the ERNs.
“I can assure you that the Commission is very active at technical, strategic and political level to help national authorities speed up the process of integration,” he said.
According to the Commissioner, the second challenge is to ensure full support to the ERNs. He went on: “Hospital managers are key players in the success of the ERNs, many of whom already fully appreciate the benefits that ERNs will bring to their hospitals and to their healthcare systems. However, to fully unlock the potential of ERNs we have to make sure that hospital managers, with our support, coordinate their efforts.”
The third challenge, he explained, concerns the selection and integration of new members in the 24 current ERNs. He said: “Highly specialised centres not included in the first approved Networks have the opportunity to apply to participate in the work of approved ERNs. In this regard the Commission is planning to launch a new call towards the end of this year.
“We need to ensure that new members bring new knowledge to the ERNs and increase their geographical coverage so that more patients have access to the ERNs in their own country. ERNs need to become stronger, more productive and more readily accessible.”
Andriukaitis also highlighted the need to further link ERNs to other important EU projects in the future, such as the European High Performance Computing or the European Research Infrastructures.
He concluded: “I am fully aware that we still have a great deal to do. Collaboration across all the different European healthcare systems is not always easy and sometimes bureaucracy can be extremely burdensome.
“But in the face of such difficulties we need to stay focussed, always mindful of the main goal – to increase the likelihood of early and accurate diagnosis and the effective treatment of patients suffering from rare diseases. At the same time, ERNs are best placed to facilitate large clinical studies to improve understanding of diseases and support development of new care models and innovative medical solutions.”
As a disease which occurs in approximately 1 in 100,000 newborns, severe Mucopolysaccharidosis type I (MPS I) is a condition which can certainly be considered to be a rare disease. The condition affects many parts of the body, and while ‘children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally begin to show other signs and symptoms of the disorder within the first year of life, while those with the attenuated form have milder features that develop later in childhood,’ the Gentics Home Refence website explains.
According to the National MPS Society in the USA, mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body. The organisation says: ‘The body constantly replaces used materials and breaks them down for disposal. MPS I patients are missing the enzyme alpha-L-iduronidase, which is essential in breaking down the mucopolysaccharides dermatan sulfate and heparan sulfate. These materials remain stored in the body’s cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.’
Due to its low frequency, MPS is often overlooked, even in the field of rare diseases, and while there are efforts taking place at the national level, visibility nevertheless remains low. As such, SciTech Europa is proud to be working alongside the Austrian MPS society in an effort to help boost both the visibility of this disease and the excellent work that the society is involved in.
The Austrian MPS Society
In the following pages, you will find an article from the Austrian MPS’s Professor Susanne Kircher, who makes the case for providing multidisciplinary care to people with mucopolysaccharide storage diseases.
Moving forwards, both SciTech Europa and our sister publication, Health Europa, will be working in partnership with Kircher and the Austrian MPS Society to that end, with future content which will look issues such as the need for funding, medical regulations, multidisciplinary caring, therapy in the last 100 years, and future therapies and perspectives, amongst numerous other important areas.
SciTech Europa is also acting as media partner to the Austrian MPS’s Therapy Week event in July, with coverage of this important event being made available both online and via our publications.
This article will appear in SciTech Europa Quarterly issue 27, which will be published in June, 2018.