Download: PDF RTF XML Booklet: Review (0) Retrieve Add item
European Reference Network for Rare Neurological Diseases [ERN-RND] [767231] - Operating Grant
Project abstract

ERN-RND is a network of 32 Healthcare Providers from 13 EU member states. ERN-RDN builds on existing expert centres and mature networks dedicated to rare neurological diseases (RND) as well as established rare disease infrastructures such as Orphanet, EURORDIS and RD-Connect. Through coordination and knowledge transfer, ERN-RND shall establish a patient-centred network to address the needs of patients with RND of all age groups, with or without a definite diagnosis, by implementing an infrastructure for diagnosis, evidence-based management, treatment and collection of patient data. The network will develop, disseminate, implement and supervise best practice guidelines and care pathways to optimize patient care and facilitate training and capacity building in the field. A special effort will be aimed to member states with less developed infrastructure for caring for RND patients, where no current partners are located, or with only affiliated or collaborative partners. ERN-RND will inform planning of European and national health care in RND, facilitating translation of research activities into clinical practice and the development of future therapies. Keeping in line with ERN-RND’s strategic objectives the six most important operational targets for year 1 will be:
• Kick ERN-RND off through a highly engaging kick-off meeting involving all stakeholders,
• Establish operability of all governance bodies as well as operational bodies such as working groups and disease expert groups,
• Establish and disseminate access points for all ERN-RND HCPs and pilot E-Health virtual consultation platform as ERN-RND access point for external clinicians and patients
• Consent and disseminate diagnostic flowcharts for all RND covered by ERN-RND
• Identify most important care needs for RND and design high impact strategies to address these needs
• Build ERN-RND web-site as THE RND information hub

Summary of context, overal objectives, strategic, relevance and contribution of the action

RND is a topic of continuously growing importance in neurology. Rapid advances in clinical knowledge in recent years have been facilitated by the emergence of genetic and other diagnostic technologies, helping us to develop a deeper understanding of diseases and their causes. The huge heterogeneity of RND and of healthcare systems in Europe, as well as the still limited clinical expert workforce base for RND at a time of rapid clinical innovation (for example regarding application of genomic technologies or development of targeted therapy) means that there is a very real risk that RND patients across Europe will miss out on improved diagnosis, care and treatment opportunities. We believe that the ERN model, which has patient needs, knowledge transfer and expertise sharing at its core, represents a unique and exciting opportunity to improve clinical care and access to services for RND patients, both directly and indirectly.
The scope of ERN-RND encompasses a range of activities to be undertaken by members who are experts in highly specialized healthcare within the EU, working together (i) with patients and lay groups, (ii) with expert and knowledge organisations such as European Learned Societies (like EURORDIS, the European Academy of Neurology, the European Paediatric Neurology Society, the European Society of Human Genetics), the European Molecular Genetics Quality Network, the European Brain Council, (iii) with existing mature RND expert networks and with established EU rare disease (RD) infrastructures such as EURORDIS, RD-Connect and Orphanet in a coordinated fashion to achieve the strategic objectives of ERN-RND.

Methods and means

The types of activity/services ERN-RND has been undertaking/providing include coordination and networking activities, dissemination and communication activities, teaching and training activities, knowledge and data generation and sharing activities, highly specialised health care provision activities as well as quality assurance activities.

These activities are structured into four crosscutting themes (CCT) and eight work packages (WP), respectively:
CCT1. Coordination service
WP1. Coordination, management, communication, quality assurance of ERN-RND activities (relevant for all objectives)
WP2. Evaluation of ERN-RND activities
CCT2. Clinical service
WP3. RND diagnostic pathway
WP4. Expert RND care coordination
CCT3. Knowledge dissemination
WP5. Training, education and capacity building
WP6. Information sharing and disease resources
CCT4. Knowledge generation
WP7. Guidelines, pathways and best practice
WP8. Registries and research

Furthermore, in six disease groups disease group specific activities are being carried out.

Work performed during the reporting period

ERN-RND has been implemented as a fully functional network in the first year. Network administration, coordination and governance were established. ERN-RND centres have been linked together through Working Groups and Disease Expert Groups. A communication plan has been set-up and executed, and an expansion strategy has been defined. ERN-RND activities are monitored on a regular basis.
ERN-RND has agreed on a portofolio of activities for the respective Working and Disease Groups as a basis for the evaluation of its activities. ERN-RND has worked during year 1 with patient groups, HCP and expert organizations to collect resources and clinical rating scales and care quality indicators for each disease group. Based on this information, the final decision on outcome/quality measures to be used for ERN-RND will be taken during the annual meeting in June 2018.
Regarding diagnostic pathways, ERN-RND has set-up a collaboration with Orphanet to fully represent ERN-RND. The ERN-RND website is an easily accessible entry point including information on accredited diagnostic RND expertise centres as well as for diagnostic flowcharts used for RNDs covered by the network.
ERN-RND prepared a care need survey to identify the most important care needs for RND with the aim to design high impact strategies to address these needs. The survey will be performed in year 2.
To define currently available education and training resources within ERN-RND and to identify training needs, a survey has been performed. Based on the identified needs, an ERN-RND specific training programme has been developed and implemented. A cooperation was established with learned societies of member states not yet participating in ERN-RND to improve access to existing educational resources. First training events have been performed.
As a general information ERN-RND information hub for all stakeholders, the ERN-RND website has been set up.
A guideline gap analysis has been performed in ERN-RND, and a pipeline for developing new guidelines has been defined. ERN-RND engaged with the European Brain Council’s Value of Treatment project towards a workable model of care for RND.
ERN-RND compiled and disseminated a directory of current recruiting research studies, as well as of existing national and international RND registries, to help engage RND patients. A research priority survey has been performed to investigate research priorities for the different disease groups, different career stages and patient / healthcare professional difference etc. Based on the research priorities a strategic plan will be set up and communicated in year 2.

The main output achieved so far and their potential impact and use by target group (including benefits)

For patients, families and carers:
- RND expert centres have been linked together for the benefit of patients: ERN-RND network is working with established administration, coordination, monitoring and governance.
- ERN-RND improved access to high-quality care, local expertise and accredited expertise diagnostic centres by establishing the ERN-RND homepage as information hub for all stakeholders, entry points via Orphanet and a Clinical Patient Management System for multidisciplinary and transnational discussion of complex cases.
- A portfolio of cares needs and report of responding strategies has been published to respond to the most important care needs of RND.

For multidisciplinary ERN-RND experts:
- An expansion strategy has been agreed, to include further centres ad countries within ERN-RND.
- A communication plan has been defined and implementation has started.
- Diagnostic flowcharts have been mapped and analysed.
- The provision of disease care resources has been improved and assured.
- To achieve interoperability in the long run, an inventory of existing RND registries has been created.

For RND health care professionals:
- Being the first network of RND expert centres with a main focus on care, ERN-RND improved, and will further improve in the following years, access to high quality care.
- ERN-RND has established a training and education program (for both ERN-members and non-members) and improved access to educational resources for the different stakeholders.

For EU Member States with no ERN-RND Members:
- ERN-RND organized training events with learned societies of member states that are not ERN-RND members yet.
- To provide health professional and patients with access to expert opinions without them needing to travel, ERN-RND established entry points to the network in collaboration with Orphanet.

For health care policy makers in the EU:
- ERN-RND started to collect and analyse healthcare access and cross-border healthcare service data to inform needs assessment with regard to care access and needs, as well as cross-border healthcare.

Achieved outcomes compared to the expected outcomes

The main aim of ERN-RND for year 1 was to achieve full operational capability in year 1 so that RND patients and further stakeholders can profit as rapid as possible from ERN-RND activities and that ERN-RND can start generating significant measurable added value.
The related outcomes have been defined as deliverables. All deliverable save one have been achieved. The delayed deliverable relates to the multilingualism of the homepage that will be implemented in year 2.

Dissemination and evaluation activities carried out so far and their major results

Dissemination of scientific results with RND scope:
In the first year, ERN-RND members published > 350 scientific publications, out of which 30% were joint publications with two or more ERN-RND members involved.
ERN-partners actively contributed to > 50 national, European and international conferences in the framework of ERN-RND. Conferences focused on rare diseases, neurology (child and adult) or human genetics. Contributions of ERN-RND members comprised poster presentations, (invited) talks and keynote lectures. Topics ranged from the ERN-RND itself as well as the different diseases represented by ERN-RND.

Dissemination activities focused on patients:
Patient-focused dissemination activities comprised three main pillars:
(1) Publications in journals of patient organisations: ERN-RND members published articles in journals of patient organisations relevant for ERN-RND.
(2) Direct information for patients, families and caretakers (available as printed leaflets or via the internet): ERN-RND members published > 40 patient information. Topics included information about the disease itself, (standards of) care and therapeutic options, e.g. physiotherapy, deep brain stimulation. This information will be made available on the ERN-RND website in due course.
(3) Training activities aimed at (i) patients (including patient days), (ii) patient representatives or (iii) patient organisations. > 50 training activities were performed by ERN-RND member in 2017.

Project website:
To establish an effective IT-based communication, ERN-RND has built a website as RND information hub. The public website ( went live in February 2018 and serves as a comprehensive information resource and contact point for all relevant stakeholders and will regularly be updated. It contains both information in lay terms for patients and their families as well as specialised services and care information for clinicians.