Rare Neurological Diseases

7 Stycznia 2020

European non-governmental organisation Eurordis defines a rare disease in Europe as a disease that affects less than 1 in 2000 people. More than 500.000 people across the European Union (EU) are affected by a rare neurological disease (RND) and up to 60% of patients with RND are still molecularly undiagnosed. In addition to this, there are huge disparities in the percentage of RND patients with a final diagnosis and access to high quality care is very limited for a large percentage of these patients. Rare also means that knowledge of those diseases is scarce in Europe and as a consequence, it needs to be shared across countries in order to ensure a timely and accurate diagnosis as well as treatment and care of patients.

It is essential for neurologists and neuroscientists in Europe to work together to solve complex patient cases, collaborate to advance research and support with the training of colleagues in the field, in particular young neurologists. As brain diseases become more and more prominent in Europe and rare neurological disorders are complex as they can differ greatly from one patient to another, it is important for neurologists to acquire the basic knowledge in their clinical features for effective patient management.

24 European Reference Networks (ERNs) were set up in 2017 by the European Commission in response to the urgent need for pooling resources and knowledge across the EU to support rare disease patients in getting the right diagnosis, treatment and care. They are virtual networks composed of hospitals spread throughout Europe where expert clinicians and researchers in rare diseases are based. Their objective is to facilitate consultations of complex rare disease patient cases that require very specialized treatment. In practice, in order to review a patient’s diagnosis and treatment, a virtual panel of medical specialists is brought together via the Clinical Patient Management System (CPMS), a secure online platform where documents including imagery can be safely uploaded. The patient doesn’t travel but knowledge does. In other words, European Reference Networks provide cross-border healthcare and ultimately save lives. Here is an inspiring real life story featuring an ERN in action.

The ERN-RND is composed of more than 30 partner hospitals located all across Europe as well as European Patient Advocacy Group (ePAG) representatives making it a patient-centered network. Its aim is to support patients and their families affected by rare neurological diseases. Furthermore, world-renowned neurologists are members of the network providing the basis for translation of potential treatment breakthroughs into clinical practice.

The collaborative work of the ERN-RND is based on three main pillars:

  • the CPMS,
  • knowledge generation and sharing as well as
  • their expert centres/hospital network.

Regular patient discussions take place on the CPMS between clinicians located in different hospitals. Network activities are geared towards creating disease knowledge documents to improve care of patients as well as to organize a comprehensive training programme. The network organises a yearly Winter School for young neurologists/residents, a Fellowship Exchange programme for ERN members. In addition to this, it provides educational webinars on rare neurological and neuromuscular diseases - in collaboration with the European Reference Network for Rare Neuromuscular Diseases ( EURO-NMD) and the European Academy of Neurology ( EAN).

More information about the ERN-RND can be found on their website here.

Useful links:

ERN-RND website: http://www.ern-rnd.eu/

ERN-RND webinar schedule: http://www.ern-rnd.eu/education-training/webinars/

European Commission’s webpages on ERNs: https://ec.europa.eu/health/ern_en

EAN’s webpage on RNDs: https://www.ean.org/Rare-Diseases.2682.0.html