Projects

Online-IMD (online-Inherited Metabolic Disease)

The “Online-IMD” project aims to develop a digital tool containing the most updated Guidelines and referral indications on the diagnoses and treatments of all metabolic diseases. The novelty of the app stands in the possibility of updating the text online: an editing board will validate all the updates suggested by users, and thus the app will contain always the most recent information. Therefore, it represents an always-ready and easy-to-use electronic resource aimed to help and guide clinicians to make early diagnosis and decide on the right treatment to ultimately improve the prognosis of infants and children affected by inborn errors of metabolism. Such resource is to be made available free of charge to all MetabERN members and, on behalf of MetabERN, to all professionals involved in patient care, research, and teaching in the field of hereditary metabolic disorders in Europe and beyond.

European Rare Disease Research Coordination and Support Action (ERICA)

The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.

Through knowledge sharing, engagement with stakeholders in the rare disease domain and assembly of transdisciplinary research groups working across the global health spectrum, ERICA strives to reach the following goals:

• new intra- and inter-ERN rare disease competitive networks;
• effective data collection strategies;
• better patient involvement;
• enhanced quality and impact of clinical trials;
• increased awareness of ERNs innovation potential.

ERICA will strengthen research and innovation capacity by the integration of ERN research activities, outreach to European research infrastructures to synergistically increase impact and innovation. This will result in efficient access and safe therapies for the benefit of patients suffering from rare diseases and complex conditions.

More information here

CONNECT Project

Within the framework of the CONNECT project and CEF/INEA grant, an emergency protocol has been developed for patients suffering from inherited metabolic disorders and their families to deal with emergency situations, which are a major burden. Having an emergency letter and knowing how to use it can prevent life-threatening situations and will optimise communications between patients and doctors.

Metabolic specialists from many countries worldwide have collaborated in the CONNECT MetabERN project to improve the emergency letters and communication. Some elements of this emergency protocol are generic, whereas other items are personalised based on body weight and specific inborn error of metabolism. 

By using http://www.emergencyprotocol.net, personalised emergency letters can be automatically generated for families and patients with fatty acid oxidation disorders (FAOD) and glycogen storage diseases (GSD).

More information here

Unified European Registry for Inherited Metabolic Disorders (U-IMD)

The overall aim of the U-IMD project is to promote health for children, adolescents and adults affected by rare Inherited Metabolic Disorders (IMDs). The project has three major activities:

1. Establishing the U-IMD patient registry as a tool of the European Reference Network for Hereditary Metabolic Disorders (MetabERN).
2.  U-IMD will fully implement the common data elements of the European Platform on Rare Disease Registration (EU RD Platform) and will be integrated into the European Rare Disease Registry Infrastructure (ERDRI). U-IMD will be the first unified European registry that encompasses all IMDs.
3. Upgrading already existing IMD registries to the standard of U-IMD, starting with the registry of the International Working Group on Neurotransmitter Related Disorders (iNTD).
4. Developing a standard for minimal core data sets shared by the MetabERN and the European Rare Kidney Disease Reference Network (ERKNet).

More information here

INEA CEF Telecom

The European Reference Network European Reference Network (ERN) for Rare Hereditary Diseases (MetabERN) was officially set up in 2017 in accordance with Directive 2011/24/EU. The overall goal of MetabERN is to develop innovative care models and improve cross border care for patients suffering from rare and/or complex diseases and conditions in hereditary metabolic diseases.

The main objective of this Action is to continue developing and implementing IT applications, as well as supporting their use by the MetabERN health care providers, to ensure the increased use of the core service platforms, the ERN Collaborative Platform (ECP) and the Clinical Patient Management System (CPMS).

This Action builds upon the CEF-funded Action 2017-DE-IA-0109, which aimed to set up the MetabERN Operational Helpdesk.

The Action will facilitate access to highly specialised knowledge and care for patients suffering from rare and severe diseases.

Case-oriented e-learning/e-training within MetabERN will be carried out to train and educate new generations of physicians, and interconnectivity will be ensured in the entire care chain between IEM-patients, primary care physicians, local hospitals and the centres of expertise to prevent metabolic emergencies in patients.

More information here

European Joint Programme for Rare Diseases EJPRD

As recognised by the Council Recommendation 2009/C 151/02, rare diseases (RD) are a prime example of a research area that can strongly profit from coordination on a European and international scale. RD research should be improved to overcome fragmentation, leading to efficacious use of data and resources, faster scientific progress and competitiveness, and most importantly to decrease unnecessary hardship and prolonged suffering of RD patients. 

In the specific context of the massive generation, need for reuse and efficient interpretation of data, introduction of omics into care practice and the structuration of RD care centres in European Reference Networks, it appears crucial and timely to maximise the potential of already funded tools and programmes by supporting them further, scaling up, linking, and most importantly, adapting them to the needs of end-users through implementation tests in real settings. Such a concerted effort is necessary to develop a sustainable ecosystem allowing a virtuous circle between RD care, research and medical innovation. 

To achieve this goal, the European Joint Programme on RD (EJP RD) has two major objectives: 

(i) To improve the integration, the efficacy, the production and the social impact of research on RD through the development, demonstration and promotion of Europe worldwide sharing of research and clinical data, materials, processes, knowledge and know-how;  

(ii) To implement and further develop an efficient model of financial support for all types of research on RD (fundamental, clinical, epidemiological, social, economic, health service) coupled with accelerated exploitation of research results for benefit of patients. To this end, the EJP RD actions will be organised within four major Pillars assisted by the central coordination: 

(P1): Funding of research;

(P2): Coordinated access to data and services; 

(P3) Capacity building; 

(P4): Accelerated translation of research projects and improvement outcomes of clinical studies.

More information here

Rare 2030 

Building upon the success of European policy in support of rare diseases (RDs) to date, Rare 2030 seeks to use innovative research-based methods to best support future policy decisions for RDs. Rare 2030 seeks to propose policy recommendations to guide this future policy by using the participatory foresight approach and additional innovative consensus-building methods, encouraging broad and sustainable uptake by patients, all relevant stakeholders, (in particular policymakers) and society at large. 

By harnessing the expertise and experience of associated and collaborating project partners and a panel of experts made up of representatives of all those benefitting from the project’s outcomes, Rare 2030 specifically seeks to establish the baseline knowledge required to identify, agree on and rank scientific, technological, social, political, financial and institutional drivers for the future governance and care of RDs in Europe. 

By exploring and combining trends and existing instruments the Rare 2030 project intends to develop 3-5 consistent and plausible qualitative scenarios revealing the needs, perceptions and preferences of the RD Community and society at large as well as the policy options leading to these scenarios. 

More information here

Submission of Framework Partnership Agreement 2017-21 to CHAFEA

On June 21st, together with the MetabERN application, an application for a call for proposals conducted in the framework of the Third Programme for the Union’s action in the field of Health (2017-2021) was submitted. The Proposal aimed at providing financial support to ERNs, once established. Specifically support will be provided through the conclusion of framework partnership agreements (FPA) for a duration of maximum five years – covering the operating years 2017, 2018, 2019, 2020 and 2021 – and, subsequently, of specific grant agreements for the financial year 2017. The FPA will include a multi-annual work programme for the period 2017-2021 as an annex, including a budget plan. The evaluation committee lead by the Consumers, Health, Agriculture and Food Executive Agency (CHAFEA) has awarded the MetabERN with a total score of 29/30 and we have been invited to submit a simplified grant application on January 27 with an annual work programme and budget.

Horizon 2020

MetabERN has been invited by Prof. Hans Lochmüller, University of Newcastle Upon Tyne, UK, Coordinator of RDConnect, to join a call for the Creation of the “RD Bridges Project “ within the framework of Horizon 2020 call and as a continuation of the RD Connect Project. The project proposal aims to facilitate interaction among the ERNs, and to establish a comprehensive, accessible infrastructure for shared data.The proposal has passed the first stage and the second stage and is resubmitted in March.

Marie Skłodowska Curie Actions

Marie Skłodowska Curie Actions, Research Fellowship Programme, are European programme for young scientists (inside the 4th year of PhD degree) or for PhD students. The deadline for submission was January 10th. The project MetabERN proposes aims to better understand the mechanistic basis of glycosaminoglycan (GAG) related disease and to use this knowledge for improved therapeutics. Since the project mainly involves LSDs, Ans van Der Ploeg and and Maurizio Scarpa will be the main contact people for this project.

3rd Public Health Programme

A call for applications for Rare diseases –in support of the setup of new registries is based on the Third Programme for the Union’s action in the field of Health (2014-2020) and its 2016 Work Programme. The objective of this call is to provide financial support to the development of 3-4 new registries on rare diseases based on existing registries in Member States. As laid down in Article 12 of the Directive on the application of patients’ rights in cross-border healthcare, registries will be one of the objectives of the European Reference Networks (ERNs) to be set up. The proposal for a united metabolic database was submitted by the group of Prof Stefan Kolker, Heidelberg, within the subnetwork “aminoacid and organic acid related disorders” on March 21st 2017.

EuroTRIMM_ European Training network for Inflammation, Mitochondria and Mood disorders

European Training network for Inflammation, Mitochondria and Mood disorders has submitted in January 2017 a H2020-MSCA-ITN-2017 proposal entitled: Interdisciplinary training network for the study of stress-related mood disorders (proposal ID: 766376). The overreaching aim of this proposal to increase understanding of the role of mitochondrial dysfunction in the etiology and biology of stress-related mood disorders, such as depression and anxiety. First round evaluation results are expected in June

• EuroTRIMM has five academic partners, Radboudumc, Nijmegen, The Netherlands (coordinator), École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland, Max Planck Institute for Psychiatry, Munich, Germany, University of Pécs, Pécs, Hungary, UZ Leuven, Leuven, Belgium and one non-academic partner Amazentis, SA, Lausanne, Switzerland. Twelve highly integrated multidisciplinary projects will realize EuroTRIMM’s aim across Europe.
• MetabERN is also a full partner in EuroTRIMM, supporting partners in collecting scientific data. MetabERN will also be instrumental in disseminating results, and support contact with patient organizations and make information available for patients, as it is stated in their vision document.

Collaborative Network for European Clinical Trials For Children, (conect4children, c4c) within the 10th call of IMI2,

The first stage deadline for the call was 28 March 2017 – submission of a short proposal  via the electronic submission system of the H2020 participant portal. The second state deadline will be 14 September 2017. You can find further information on the call here, here, here and here.

Call AIFA 2016 study protocol

The application was sent on 5 December 2016 by the MetabERN Italian group of HCPs entitled “Information Technology approach to explore the natural history, the impact of therapies and the cost of rare inherited metabolic disorders.”