U-IMD: the first Unified European registry for inherited metabolic diseases

Abstract

Background Following 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). Results In 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. Conclusion The 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.

Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

“…Apart from introducing a new registry, the U-IMD action also aims at providing the expertise for implementing a higher level of semantic interoperability to the existing IMD registries. In this way U-IMD works as a complement and enhancement to the existing structures, avoiding duplication much as possible for a generic approach ( 30 ). The hurdles represented by lack of semantic interoperability were experienced by E-IMD in its collaborative effort to establish the largest continuously followed cohort of urea cycle disorders together with the American Urea Cycle Disorders Consortium (UCDC).…”

“…With these lessons in mind the adaption process facilitated by U-IMD includes the introduction of the EDRI tools to the E-IMD, E-HOD and iNTD registries, with special emphasis enhancing semantic interoperability between the registry and to other data sources with a comparable standard. U-IMD itself ensured interoperability to other ERN registries already during its design, going as far as mirroring the data model of the European Rare Kidney Disease Reference Network (ERKNet) since both ERNs share metabolic nephropathies as target diseases ( 30 ).…”

Präzisionsmedizin in der Kinderneurologie am Beispiel der neuen Therapien

“…Eine wesentliche Voraussetzung ist die bereits erwähnte Interoperabilität der Datensätze und deren Lesbarkeit in unterschiedlichen Datenbankformaten. Von der ursprünglich oft kolportierten Datenhaltung in zentralen Krankheitsregistern wird in den letzten Jahren zunehmend Abstand genommen, eine lokale Datenhaltung unter Einhaltung und Gewährleistung einer semantischen und syntaktischen Interoperabilität mit der Möglichkeit zum Datenaustausch und der standardisierten Auswertung in Forschungsnetzwerken wird dabei als ein Modell für die Zukunft gesehen [ 24 ].…”

Opportunities and Challenges for Machine Learning in Rare Diseases

“…Moreover, 24 European Reference Networks (ERNs) [wanted by the European Commission (EC)] were installed in 2017 to facilitate the discussion on complex or RDs that require highly specialized treatment and concentrated knowledge (2014/286/EU). The EC defined specific criteria for ERNs, encouraging the research and epidemiological surveillance through shared patient registries ( 12 – 14 ).…”

“…Nonetheless, the RDs domain may greatly benefit from data pooling, since information on orphan patients is frequently scattered across different hospitals and institutions ( 14 , 15 ). To promote the merging of standardized data, the European Rare Diseases Platform has released the “Set of common data elements for Rare Diseases Registration” produced by a Working Group coordinated by the Joint Research Center.…”