Description of project
The European registry and network for Intoxication type Metabolic Diseases (E-IMD) has been co-funded by the European Union (via the European Agency for Health and Consumers [EAHC]; agreement no. 2010 12 01) from 1st January 2011 to 30th April 2014, in the framework of the Health Programme 2008-2013.
E-IMD has established a patient-based registry (https://www.eimd-registry.org) including comprehensive basic and follow-up data of more than 1100 patients with organic acidurias (more than 700) or urea cycle disorders (more than 400), has published evidence based clinical care guidelines and original research articles for these diseases, has established a website as major instrument for dissemination including the provision of electronic information brochures for patients, families and healthcare professionals in different languages (http://www.e-imd.org) and provides data for post-authorization safety studies (PASS) of orphan drugs, among other activities.
After the EU funding period has ended, E-IMD Partners and Members have continued with these activities within the legal framework of a collaboration agreement, sustaining the E-IMD network, its instruments and activities as a scientific consortium encompassing over 40 metabolic expert centers throughout Europe and worldwide.
The overall aims of E-IMD are
- Promotion of health for individuals affected with intoxication type metabolic diseases, such as organic acidurias and urea cycle defects.
- Research on diagnostics, treatment, care and outcome, including guideline development.
- Dissemination of knowledge about diagnostics, treatment, care and outcome.
- Sustaining and extending E-IMD by grant applications in the area for intoxication type metabolic diseases and collaborations with scientific consortia, patients’ organisations, healthcare providers, policy makers and industry.
- Coordination of relations between science, medicine and industry.
- Development and implementation of new instruments.
Products of E-IMD are
E-IMD provides systematic data describing diagnostic procedures and results and long-term follow-up of patients with intoxication type metabolic diseases. The data allows addressing specific research questions in cooperation with various stakeholders:
- Other research consortia, networks supported by the European Commission, health care professionals (e.g. compared and combined data analysis, publication, guidelines)
- Policy makers (e.g. providing epidemiologic information, evaluation of national newborn screening programs)
- Professional societies (e.g. teaching courses)
- Industry (e.g. post-authorization safety studies of orphan drugs, feasibility analysis of clinical studies)
- Patient organisations (e.g. information brochures)