Unified European Registry for Inherited Metabolic Disorders
Project title: "Unified European Registry for Inherited Metabolic Disorders"
Project start date: 1. 2. 2018
Project completion date: 31. 1. 2021
Project Budget: EUR 663,563.71 in total, of which EUR 77,290.38 for VFN, 40% mandatory co-financing from the VFN's own resources
Project guarantor (workplace): Department of Pediatric and Adolescent Medicine
Project Registration Number: 777259 – U-IMD
Project U-IMD is supported by the call for "RARE DISEASES - SUPPORT FOR NEW REGISTRIES" of the European Union Health Action Program 2014-2020 (The Third EU Health Program 2014-2020).
The VFN participates in the project as one of the members of the international consortium, the principal investigator in the Czech Republic is Prof. MUDr. Viktor Kozich, CSc. from the Department of Pediatric and Adolescent Medicine, co-investigators from the same workplace are Prof. MUDr. Jiri Zeman, DrSc. and Doc. MUDr. Tomáš Honzík, Ph.D.. The project coordinator is the Universitätsklinikum Heidelberg from Germany. In total, 5 organizations from four countries (Germany, Czech Republic, Italy, Spain) participate in the project.
The goal of the project is creating a universal registry for hereditary metabolic disorders following the registries that have been created so far (E-IMD, E-HOD, E-NTD). The U-IMD will be an important tool for pan-European epidemiological and clinical studies of these diseases in close cooperation with the European Reference Network for Hereditary Metabolic Disorders (MetabERN). The VFN's specific role will be to disseminate information about the project (in the form of newly created project websites, printed professional leaflets, presentations at conferences, translations of information materials, creation of a lay version of the final report, etc.).
The overall aim of the project is to promote health for children, adolescents and adults affected by rare Inherited Metabolic Disorders (IMDs).
The project has three major activities:
- This register is based on the European Reference Network for Hereditary Metabolic Disorders (MetaberN) based on the common data elements of the European Platform on Rare Disease Registration. U-IMD will be the first unified European registry that encompasses all IMDs.
- To upgrade already existing IMDs to the U-IMD standard, starting with the International Working Group on Neurotransmitter Related Disorders (iNTD).
- To develop and standard for minimal core data sets shared by the MetaberN and the European Rare Kidney Disease Reference Network (ERKNET).
More than 700 inherited metabolic diseases (IMDs) have been identified by far. Each single IMD is a rare condition, but the 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. For a limited number of IMDs networking activities already exist on European or international level. The E-IMD, E-HOD and iNTD family of IMDs have a relevant impact on the health of patients with IMDs and facilitates postauthorisation of safety studies (PASS) for orphan drugs. However, existing registries still do exclude and have a significant portion of IMDs and do not fulfill all core recommendations made by the European Union Committee of Experts on Rare Diseases (EUCERD). The recent inception of the European Reference Network for Hereditary Metabolic Diseases (MetaberN) is the foundation for the development of the European IT platform for IMD registries. The project consists of 3 components: (1) a new register of platforms for all known IMDs, (2) an upgrade of existing IMD registries and (3) and collaboration with the European Rare Kidney Disease Reference Network (ERKNet). The new Unified European Registry for Inherited Metabolic Diseases (U-IMD) will encompass all known IMDs, fully implementing EUCERD recommendations. Data modules developed for U-IMD will be integrated in the existing IMD registers, with the iNTD registry as pilot, thus reaching interoperability of patient records. MetaberN and ERKNet will develop and common standard for minimal core data sets. The U-IMD register will follow an open multiple stakeholder approach, explicitly seeking collaborations with national and EU level health authorities, other scientific networks and consortia, patient and parent organizations and industry.