To ensure a coordinated action in creating the widest collaboration among paediatric and adult metabolic physicians and patient associations at EU level, MetabERN will facilitate and harmonise patients’ access to diagnosis and best treatment by fulfilling and improving the following transversal activities:
The implementation of new-born screening programmes is indicating that early diagnosis and immediate start of today available treatments can improve the health outcome and prevent severe health burden of affected individuals. However, less than 5% of known IMDs are currently included in newborn screening programmes in Europe, and there is a need for the harmonisation of national programmes. MetabERN aims to harmonise diagnosis, prevention, screening, and treatment of IMDs across Europe and to interact with pertinent stakeholders to facilitate the access to early detection and prevention services (screening and genetic tests).
Due to the strong biochemical background of the MetabERN HCPs, in collaboration with the ERNDIM, SSIEM and the ESGLD (www.esgld.org), extension of the existing newborn screening (NBS) and new disease identification programmes will be developed.
MetabERN collaborates with patient organisations to improve the safety and quality of care. The production of guidelines and clinical pathway will further improves the diagnostic and treatment abilities of medical centres.
The development of an easy-to-access, electronic platforms and the dissemination of pocket-book guides will allow for standardisation of care and growing awareness of IMDs.
More than 700 inherited metabolic diseases (IMDs) have been identified so far. Each single IMD is a rare condition, but collectively IMDs are affecting at least one in 500 newborns. Clinical presentation of IMDs is wide-ranging from involvement of single organ systems to multi-systemic disease, confronting patients with significant and often severe health problems resulting in high morbidity, reduced life expectancy, and low quality of life. Despite the progressive awareness on metabolic diseases due to the offer of innovative therapies and possibility of early diagnosis, natural histories are scarce for the vast majority of IMDs.
Following the call for applications for Rare diseases (3rd Public Health Programme) in support of the setup of new registries we are proud to announce that proposal for the creation the Unified Registry for Inherited Metabolic Disorders (U-IMD) has been approved by the EU.
The major objective of this project is to establish the first unified European registry that encompasses all inherited metabolic disorders (IMDs) as listed by Orphanet (http://www.orpha.net/). The overall aim of this project is to promote health for children, adolescents and adults affected by rare IMDs and to reduce variation between countries and enable and empower patients, wherever they live, to access the necessary expertise and services and promote research on IMDs and the development of safe and efficacious new treatments. Furthermore, U-IMD will systematically collect data of affected individuals with an IMD of yet unidentified molecular origin and will group them according to their clinical and biochemical phenotype. This will help to identify and systematically treat and follow these patients once the etiology of their disease has been clarified. This will also help us to better understand the epidemiology of many IMDs.
The Network, in collaboration with partners, organises continuous education, training, and development activities.
MetabERN takes advantage of the established collaboration with the SSIEM for its educational programme.
The SSIEM Academy has an on-going education and training programme which will be elaborated on and adjusted for the needs of the MetabERN participants.
One of the major aims of MetabERN is the development of Cross-broder care pathways and the facilitation of the virtual exchange of patient and treatment information across the network.
The network will in-fact systematically gather input from its members and partnering patient groups to identify where highly specialised services are located and can be leveraged.
Virtual Counselling is instrumental to ensure patients access to expertise relevant to their particular condition and help them receive the best advice locally.
In the case of need, patients will receive care in the most specialised centre of the network.
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. MetabERN will be entirely patient and expert-led.
Through the combination of patient experience and expert knowledge from across the EU, it will be able to capture the most innovative medical advances and tailor them to the patient needs.
Through different web-based and communication tools MetabERN disseminates information on new and on-going research projects and, if applicable, clinical trials to enable provider participation and patient recruitment across the EU.
MetabERN acts as a source of information for rare or low prevalence and complex disease patients and families. MetabERN will create, with patient groups, dedicated capacity-building activities and will contribute to their empowerment by systematically involving them in the decision-making process.
MetabERN aims to act as a reliable and all-encompassing source of information to patients. Epidemiological studies involving patient associations will be conducted in order to identify the real prevalence and incidence of IMDs as well as patient needs in this area.
MetabERN will work transparently with its members, collaborating patient associations, and other stakeholders such as industry, research institutions, pan-European infrastructures, policy-makers, and government, to identify research gaps and needs and set its priorities accordingly.
A stakeholder survey on these priorities is being performed.