title: The pooling of manpower and resources through the establishment of European reference networks and rare disease patient registries is a necessary area of collaboration for rare renal disorders.
abstract: This review aims to provide guidance on emerging concepts and policy related to European reference networks (ERNs) for rare diseases (RDs) and the development and management of RD patient registries. A major problem facing many RDs including rare renal disorders is that patients do not have a specialist centre that they can attend where clinicians, working as a multidisciplinary team, are experts in the particular disease. Furthermore, for most RDs, no single centre, and in many cases no single country, has sufficient numbers of patients and resources to fully understand the natural history or to conduct clinical and translational research. Therefore, the pooling of manpower and resources through the establishment of ERN and RD patient registries is a common and necessary area of collaboration. The concept of European networks for RDs dates back to the early 2000s and the Commission launch of a call for European pilot reference networks for RDs. These networks of expert centres have been brought together through the desire for further knowledge and innovation in RD areas. Networks demand a holistic approach and long-term vision with close collaboration between clinicians, diagnostic laboratories, scientists, patients and their families. The development of legal measures for ERNs is in progress at the Commission and these networks will be a shared responsibility of the Commission and member states. In the context of ERNs, an essential activity is the patient registries. Patient registries are organized databases where patient information, including demographic, medical and family history, are collected, stored and available for retrieval via standardized and secure methods. Patient registries are increasingly recognized as crucial tools for RD research for which international collaboration is absolutely essential to understand the pathogenesis of rare genotypes, achieve a unified collection of phenotypic data, foster natural history studies providing the foundation for successful orphan drug development, facilitate studies to identify appropriate clinical endpoints or biomarkers, identify participants for research and clinical trials and support discussions with regulators including the safety and efficacy evaluation of potential therapies. Furthermore, patient registries are often used as part of regulatory decisions and post-marketing surveillance requirements. Data can be entered into a registry by patients, clinicians, researchers or directly imported from patient's health records. The major concern in maintaining the dynamic of these networks and registries is sustainability, as the infrastructures and coordination have a cost.
authors.affiliation: External Affairs and Rare Disease Partnerships, Orphan Europe, Puteaux La Defense, France.
authors.forename: Samantha
authors.initials: S
authors.lastname: Parker
mesh_terms: D003299:Cooperative Behavior; D016208:Databases, Factual; D019468:Disease Management; D005060:Europe; D006280:Health Workforce / Q000458:organization & administration*; D006801:Humans; D007674:Kidney Diseases / Q000503:physiopathology* / Q000628:therapy; D035583:Rare Diseases / Q000503:physiopathology* / Q000628:therapy; D012042:Registries
keywords: European reference networks; improved diagnosis; patient outcome; rare disorders; registries