The European Reference Network for rare Hereditary Metabolic Diseases (MetabERN) aims to facilitate access to the best available care and address the needs across the border of all patients affected by rare inherited metabolic diseases (IMDs) and their families. It is unprecedented that a pan-EU Network covers expertise encompassing all the IMDs (over 700) regardless of their incidence and prevalence, severity, availability of treatment and characteristics of patient population. The MetabERN is driven by the principle of patient-centeredness for the provision of its services aiming at improving the quality of life of patients and families. In this spirit, family associations (FAs) play a crucial role into the planning and decision-making system related to patient care and management as well as policy activities impacting on the EU Rare Disease Policy Agenda. World-known experts will work hand-in-hand with FAs to develop guidelines for accurate diagnosis and optimal management of IMDs in order to strengthen referral systems across the border. MetabERN will facilitate access to treatment by channeling expertise through virtual and web-based platforms to minimize patient mobility. MetabERN will serve as a hub of knowledge and information by connecting the most relevant scientific associations and EU established networks in this area. A structured collaboration is activated with other European Reference Networks with overlapping disease areas to ensure that patients receive the best available care. Knowledge of IMDs will increase among target groups, mainly Healthcare Professionals, Patients and Researchers, thanks to the tailored training activities that will be developed after a thorough check of their needs. Early uptake of medical advances will be bolstered by developing recommendations to overcome the barriers to translational research. Our focus on safety and cost-effective treatments will drive the future IMD research agenda for the next 10 years.
1.1 SUMMARY OF CONTEXT
The Clinical/Research Network named "European Reference Network on Rare Hereditary Metabolic Diseases”, (acronym “MetabERN”), has been established in response to the European Commission’s call for the setup of European Reference Networks that was published within the framework of the Third Programme for the Union's action in the field of Health.
MetabERN represents the first most comprehensive, pan-metabolic, pan-european, patient-orientated platform, aimed to transform how care is provided to patients with inherited metabolic diseases (IMDs) in Europe.
The major goal of this initiative is to ensure coordinated action in creating the widest possible collaboration among paediatric and adult metabolic physicians and patient associations at EU level, facilitating patient access to specialists with expertise in the metabolic field and to foster research activity. MetabERN serves as a referral hub to ensure optimal knowledge-sharing, to improve early diagnosis and treatment of inherited metabolic diseases (IMDs) at EU level, to bring expertise to the patient's bed, to facilitate access to therapy and to coordinate clinical and research services to rationalize the existing resources at European level.
1.2 METABERN OVERALL OBJECTIVES
According to art. 12 of Directive 2011/24/EU on the application of patients’ rights in cross-border healthcare, MetabERN operates on a non-profit basis to facilitate access to the best available care and address the needs across the border of all patients affected by any rare inherited metabolic disease (IMDs) and their families. MetabERN is driven by the principle of patient-centredness for the provision of its services aiming at improving the quality of life of patients and families. MetabERN aims to connect the most specialised centres in the area of rare IMDs to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs. MetabERN is entirely patient and expert-led. Through the combination of patient experience and expert knowledge from across the EU, it captures the most innovative medical advances and tailors them to patient needs.
Within this framework, MetabERN pursues the following concrete objectives:
-Accommodate and interconnect expertise across Europe at the service of IMD patients,
-Harmonise data collection across participating European centres,
-Establish common approaches to diagnostics and treatment,
-Develop and implement harmonized guidelines,
-Stimulate cross-border research,
-Develop training and education opportunities especially in Member States where it is lacking,
-Interact closely with patients to serve as a reliable source of information and involve them in the planning of their individual care pathways and decision-making.
MetabERN also aims to foster collaboration with other approved ERNs in disease areas where overlapping exists, in order to share knowledge even further.
STRATEGIC RELEVANCE AND CONTRIBUTION TO THE ACTION OF THE HEALTH PROGRAMME
MetabERN constitutes a key resources to facilitate and harmonize patients’ access to diagnosis and best treatment and design a collaborative governmental structure with patients, academia, politics, insurance companies and industry.
Network for the disease condition(s), or highly specialised intervention.
MetabERN in fact represents the most comprehensive network for IMDs and, encompassing existing networks that are focused on single homogenous disease groupings, it ensures cross-fertilisation as well as exchange of best practices across metabolic conditions. MetabERN aims to create capacity among patient groups through dedicated capacity-building activities contributing to their empowerment by systematically involving them in the decision-making process. Participating patient organisations have been provided with a space to exchange and interact and work collaboratively to map out the needs of patients, and define specific recommendatio
In line with the objectives the defined activities of MetabERN focus on (1) the formalisation of the set-up of the network, (2) the establishment of closer collaboration between participating healthcare professionals and patients in the IMD field, (3) the dissemination of information about the network to increase awareness in the relevant communities and (4) the development of a comprehensive overview of the current situation in IMD diagnosis, care and management and therefore build the basis for the development of a White Paper on IMDs in Europe at a later stage.
Methods to achieve objectives mainly consist in bringing healthcare professionals, patients and other relevant stakeholders together.
MetabERN today represents 69 founding Healthcare Providers (HCPs) from 18 European Member States and 44 patient organisations, and is endorsed by the Society for the Inborn Errors of Metabolism (SSIEM).
By connecting the most specialised centres in the area of rare inherited metabolic diseases (IMDs), MetabERN aims to promote prevention, accelerate diagnosis and improve standards of care across Europe for patients living with IMDs. By pooling knowledge and improving information exchange between centres, MetabERN also aims to transfer knowledge in Member States where there is an insufficient number of patients and/or lack of knowledge to ensure highly specialised care to patients affected by IMDs and advance innovation in medical science and health technologies in this area.
To this end, MetabERN serves as a platform that
(1) harbours all IMDs across different metabolic conditions;
(2) offers an environment enabling patients to identify the healthcare provider best fit to respond to their individual treatment requirements and;
(3) allows professionals and researchers to collaborate throught the Collaborative Patients Management Platform without borders (scientifically and geographically), pools knowledge and performs systematic research.
Over the first 5 years, the MetabERN aims to:
1) Improve IMD patient outcomes and empowerment through:
- Setting up an inventory of the metabolic diseases field;
-Developing ad-hoc patient information and training sessions; advancing
-Collaborative diagnosis of new diseases within the network; continuous cross-network patient
-Education; establish MetabERN as a long-term referral point bringing expertise to patients.
The main structure of the network and all the meetings that enable a smooth running of the cooperation, coordination, management and communication have been set up successfully.
The website (www.metab.ern-net.eu), social media channels (Twitter, Facebook, LinkedIn) and the monthly newsletter have all been set up, sent out and kept up to date since January 2018. The press release was issued and the patient brochure has been designed and translated from English into French.
By putting together an extensive survey on the state of research in the IMD field, the gaps that need to be filled in the next couple of years have been identified.
The structure for setting up a Grant Office have been set out at the end of 2017 and a mapping exercise has started to be able to identify potential opportunities for MetabERN to apply for grants.
MetabERN has set up an inventory of metabolic diseases for data collection, developed patient information and training sessions as well as the development of a training subwebsite, advanced collaborative diagnosis and treatment of rare or low prevalence complex diseases or conditions across national borders and established a long-term referral point bringing expertise to patients. These activities have been facilitated also by the Clinical Patient Management System (CPMS), a secure web-based application provided by the European Commission that enables health professionals from the European Reference Networks (ERNs) to discuss complex cross-border cases in a multidisciplinary way ensuring that the needed expertise can travel to the patient, instead of the other way around.
MetabERN has also fostered collaboration with other approved ERNs in disease areas where overlapping exists, in order to share knowledge even further.
An online platform that is easily accessible has been developed in order to start the process of developing guidelines and clinical pathway recommendations on rare metabolic diseases: something that has not been done before. The platform is set up in such a way that guidelines will be written in a uniform way so that all MetabERN members will have the same qualitative result when following the steps that have been set out.
The focusing of the Frist year was to establish a growing and developing network in order to reach out and collaborate with all expert centers in Europa. Activities to achieve this were setting up of a detailed structure of the governance in order to facilitate the organization of the network and facilitate the involvement of the different experts, patients organizationis and other interested parties.
To meet the information needs of the stakeholders and have expert specialists and their team taking advantage of this exceptional opportunity to improve health care for Orphan disorders, several meetings have been organized and participants who attended them have now got a clear understanding of the vision, missions and aims of the metabERN.
The establishemnt of a MetabERN website (http://metab.ern-net.eu), the publication of press-releases and other important content, the distribution of the bruchures in different languages, the delivery of monthly newsletters and the use of social networks have further implemented the sharing of knowledge and information about the MetabERN projects and activities with all stakeholders involved in MetabERN activities, in particular the patient organizations and lay community.
To assure an efficient evaluation of the MetabERN activities a document for internal use within the Project Management Team (PMT) has been developed and is in use to be able to monitor progresses.
To improve the diagnostics and treatment abilities of medical centres an online and easy-to-access electronic platforms and pocket-book guides has been developed. It allows for standardisation of care and growing awareness of IMDs.
With research being a key component of MetabERN, several surveys aimed at assessing research capacity/interest of MetabERN HCPs and evaluating the state of the art of research and its reletad needs and gaps have been produced. The results of these survey have been fed into a report that provide recommendations on the priority setting for the Research Agenda in the area of IMDs.
Education and specialized training of professionals involved in metabolic patient care, and patient education is another important goal of MetabERN and in this context a special sub website dedicated to the education and training has been developed for the benefit of participating HCPs, young PhD students as well as patients and their families and it is freely available at http://metabern-educ.eu.
To facilitate access to better healthcare to patients with Inherited Metabolic Disorders, regardless of their country of origin, MetabERN has organized activities and expected outcomes into a set of defined work packages (WPs). Below is the list of WPs and their outcomes:
WP1 Coordination and management: The main structure of the network and all the meetings that enable a smooth running of the cooperation, coordination, management and communication have been set up successfully.
WP2 Dissemination: The MetabERN website (www.metab.ern-net.eu), social media channels (Twitter, Facebook, LinkedIn) and monthly newsletter have all been set up, launched and kept up to date since January 2018. A press release was issued in March 2017 and a patient brochure has been designed and translated from English into French. More languages are foreseen if necessary. MetabERN members have spread the message of the existence of MetabERN in numerous conferences and meetings where they were invited as speakers.
WP3 Evaluation: a policy on continuous monitoring system as well as an approach for periodical self-assessment for all the ERNs have been written by a working group within the ERN-Coordinators Group (ERN-CG), to which MetabERN representatives has actively participated. As soon as this policy is approved by the EC and BoMS, MetabERN will use it as guidance for internal evaluation.
The Conflict of Interest policy is being written by the ERN-CG Working Group on Ethics and Legal Issues as well as the form that will be used to disclose conflicts of interest.
The survey on patient needs has not been shared yet but is in its final stages of drafting. The delay is mainly due to the fact that MetabERN the network wanted to incorporate more inputs from the patient organisations and representatives. Translation of the survey in several languages are foreseen to enhance the take up and understanding by the respondents. The same is being done for the survey on HCP needs that is also in the drafting phase.
WP4 Guidelines, Care Pathways and Standardisation for Medical Care and Transition: To pool knowledge and improve information an online accessible information platform on GLs and clinical pathway recommendations (CPR) has been developed and created. It contains all the documentation necessary to produce guidelines and contains guidelines and care pathways recommendations already available for a number of selected IMDs.
WP5 Virtual Counselling Framework: The EC has provided all the ERNs with the Clinical Patient Management System (CPMS) that has been launched in November 2017. This WP has worked on facilitating and promoting the used of the CPMS inside the MetabERN, getting as many patient consultations in the pilot phase done as possible as well as to get all our members registered to the system. We have performed 7 consultations with various results due to technical and performance problems of the system. Guidelines for intellectual property have not been written since, before setting up a complete intellectual policy including guidelines, the Code of Conduct and the Conflict of Interest policy need to be finalised. As said in the context of the WP3 this document is being developed within the Ethics working group under the ERN Coordinators Group and will be followed by an internal discussion which will be done together with the HCPs representatives participating in this WP. For this reason it has not been possible to proceed with the drafting of the IP document.
WP6 Research, transitional activities and clinical trials: Research is a key component of MetabERN since several issues currently obstruct patient diagnosis and treatment including delayed diagnosis, limited availability of treatments and clinical trials for new treatments that are poorly designed and carried out. Several extensive surveys to identify expertise to generate research projects and identify potential gaps in the IMD field that need to be filled in the next couple of ye
Initial communications and outreach activities to relevant stakeholders have ensured the visibility of MetabERN from the start and build relevant coalitions. The website, social media channels (Twitter, Facebook, LinkedIn) and the monthly newsletter have all been set up, sent out and kept up to date since January 2018. The press release was issued in March 2017 and the patient brochure has been designed and translated from English into French. More languages are foreseen if necessary.
A policy on continuous monitoring system as well as an approach for periodical self-assessment for all the ERNs have been written by a working group within the ERN-Coordinators Group (ERN-CG), to which MetabERN representatives has actively participated. As soon as this policy is approved by the EC and BoMS, MetabERN will use it as guidance for internal evaluation. Proper internal evaluation except from the internal tracking of progress of the WPs and SNWs has therefore not started yet.