Abstract
BackgroundFollowing the broad application of new analytical methods, more and more pathophysiological processes in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. With the aim of overcoming the limited knowledge about the natural course, current diagnostic and therapeutic approaches, the project has established the first unified patient registry for IMDs that fully meets the requirements of the European Infrastructure for Rare Diseases (ERDRI).ResultsIn collaboration with the European Reference Network for Rare Hereditary Metabolic Disorders (MetabERN), the Unified European registry for Inherited Metabolic Diseases (U-IMD) was established to collect patient data as an observational, non-interventional natural history study. Following the recommendations of the ERDRI the U-IMD registry uses common data elements to define the IMDs, report the clinical phenotype, describe the biochemical markers and to capture the drug treatment. Until today, more than 1100 IMD patients have been registered.ConclusionThe U-IMD registry is the first observational, non-interventional patient registry that encompasses all known IMDs. Full semantic interoperability for other registries has been achieved, as demonstrated by the use of a minimum common core data set for equivalent description of metabolic patients in U-IMD and in the patient registry of the European Rare Kidney Disease Reference Network (ERKNet). In conclusion, the U-IMD registry will contribute to a better understanding of the long-term course of IMDs and improved patients care by understanding the natural disease course and by enabling an optimization of diagnostic and therapeutic strategies.
Highlights
Following the broad application of new analytical methods, more and more pathophysiological pro‐ cesses in previously unknown diseases have been elucidated
Governance and structure of U‐Inherited metabolic disease (IMD) With the aim of establishing the first European registry covering all known IMDs, the beneficiaries of Unified European registry for Inherited Metabolic Diseases (U-IMD) successfully applied for the call HP-PJ-06-2016 of the European Union (EU) Executive Agency for Consumer, Agri‐ culture and Food (Health), Agriculture and Food (CHAFEA)
Becoming part of U-IMD is possible for all health care providers by receiving a positive vote for the U-IMD study protocol by the responsible body and by the accepting the U-IMD consortium agreement
Summary
Following the broad application of new analytical methods, more and more pathophysiological pro‐ cesses in previously unknown diseases have been elucidated. The spectrum of clinical presentation of rare inherited metabolic diseases (IMDs) is broad and ranges from single organ involvement to multisystemic diseases. The numbers are increasing rapidly, since new analytical high through-put methods help to unravel the molecular and metabolic basis hitherto unknown diseases [5]. Each IMD is a rare condition with estimated individual prevalence ranging from 0.1 to 15 in 100,000 newborns, taken together patients affected by IMDs are numerous. Most IMDs manifest in the newborn period and infancy increasing numbers of patients with adult onset forms of IMDs are being recognized. Depending on the underlying defect and its individual severity, the phenotypic spectrum of IMDs is broad ranging from involvement of single organ systems to multi-systemic disease [22]. Individuals with IMDs are frequently confronted with significant and often severe health problems resulting in high morbidity, reduced life expectancy, and poor quality of life [20]
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