The overall aim of the European registry and network for Intoxication type Metabolic Diseases (E-IMD)is to promote health for individuals affected with rare organic acidurias (OADs) or urea cycle defects (UCDs). E-IMD has two specific objectives:
(1) To establish a European patient registry describing the disease course, epidemiology, diagnostic and therapeutic strategies for OADs and UCDs and to provide information to national and EU healthcare authorities. Anonymised data collection via a web-based password-protected EU registry will be based on routine follow-up parameters in 15 EU countries.
(2) To provide European evidence-based consensus care protocols for patients with OADs and UCDs. Based on the largest available collection of patient data (see objective 1) and a systematic literature search, a European consensus group will describe the best evidence available for the diagnosis and treatment. Consensus care protocols will be translated into official EU languages, provided via the E-IMD website and serve as a template for national guidelines and patient brochures.
E-IMD focuses on patients affected with one of the ten OADs or UCDs. Each of these intoxication type metabolic diseases has an estimated prevalence of 1 in 50,000 to 200,000 newborns within the EU. Given the particularly low number of patients and the complexity of the diseases, no national or regional project in Europe would be able to perform this work. The registry will bring together physicians, carers, scientists, patients and industry from at least 15 European countries. The countries with fewer resources will benefit from those with more resources i.e. access to consensus guidelines in their own language. It will map onto the evolving national rare disease plans and is complementary to existing rare disease networks such as Orphanet, CEMARA and CIBERER. In accordance with the second Health Programme E-IMD promotes health, improves quality of life, and reduces health inequalities for patients with rare IEM. It provides best scientific evidence, empowers patients and their families and strengthens the Community`s status in the field of rare IEM.
E-IMD will set up the first web-based password-protected EU registry for OADs and UCDs entering relevant parameters of patients with the 4 most common OAD (methylmalonic, propionic, isovaleric aciduria, and glutaric aciduria type I) and 6 UCD (inherited deficiency of N-acetylglutamate synthase, carbamoylphosphate synthase 1, ornithine transcarbamylase, arginase, argininosuccinate synthase and lyase). This provides a unique basis for improving our knowledge and understanding of the natural history of these diseases and their impact for patients and their families, and for evaluating patient care and outcome. Differences between centres and countries will be evaluated, and actions taken to address inequalities i.e. provision of advice and consensus care protocols. The registry and systematic literature search are important sources to provide evidence-based up-to-date information and consensus care protocols to patients and their families as well as health care professionals. Consensus care protocols will be developed according to the Scottish Intercollegiate Guidelines Network (SIGN).
The overall intended impact is to improve access to rapid diagnosis and care for patients with OADs and UCDs; the E-IMD philosophy is that all patients in all MS should have an equal right to the best up-to-date care.
E-IMD will help make this happen by
1) objectively measuring and evaluating current management strategies and outcome of patients in at least 15 European countries which is an important basis to better understand the natural history of these rare diseases, to optimize current treatment strategies and to initiate cohort clinical studies,
2) providing evidence-based and consensus-agreed diagnostic and management protocols which will increase the transparency for patients and experts, will help to harmonise current diagnostic and therapeutic approaches, and will be adapted to specific country infrastructures, and
3) empowering patients and patient organisations by providing up-to-date information in their own language.