Abstract
Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.
Highlights
In the field of rare diseases (RD), patient registries are a powerful tool that helps develop clinical research, facilitates the planning of appropriate clinical trials, improves patient care, and supports healthcare management
Consultations with experts ensure selection of appropriate DEs. Does this prevent problems that others have already resolved in defining data elements, and facilitates data sharing and consistency. Another essential aspect is the dynamic annotation of the Case Report Form (CRF), which has an impact on the underlying database structure
The development of Rare diseases (RD) registries is seeing considerably growth, as the field deals with a scarcity of patients, and the need to gather cohort data to enable research, better define natural history and epidemiology, facilitate clinical research studies, and assess healthcare standards
Summary
In the field of rare diseases (RD), patient registries are a powerful tool that helps develop clinical research, facilitates the planning of appropriate clinical trials, improves patient care, and supports healthcare management. Patient registries constitute key information systems that support the forthcoming activities of European Reference Networks (ERNs) on rare diseases. 747 RD registries in Europe [3] Their objectives are extremely diverse, ranging from clinical patient data management to epidemiology and research goals; each of them are supported by a wide variety of information systems, ontological standards, data collection and management tools, as well as governance models. In response to these heterogeneities, in the framework of RD-Connect project [4], the National.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have