About the resource
Type of resource: Creation of web-based patient registries
License/availability: Open source
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User documentation: Click here to view documentation
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Rare disease registries made easy: The Rare Disease Registry Framework (RDRF) is an open source tool for the creation of web-based patient registries. What makes it unique is that data entry forms and questionnaires are based on reusable data element definitions (Data Elements) which can be created and/or loaded into the system at runtime. This means that registries can be created and modified without changes to the programming code, so registries can be deployed and curated without the involvement of a software developer.
The RDRF has many desirable features which include its ability to create multiple registries within the same framework, patients are defined once but can belong to more than one registry, and the ability for curators to create data elements dynamically well after the registry has been defined, enabling the registry to adapt to the evolving requirements of data capture. A created registry is defined by a description language. For example, a standard patient registry (such as myotonic dystrophy) can now be defined in just over 200 lines (excluding data elements) of computer-readable text as opposed to the same registry implemented in a programming language (standalone) using 5000 lines of programming code. This definition file can be imported, exported, versioned and stored in a shared accessible environment.
Who will it help and why?
The RDRF allows scientists and registry curators with standard computing skills to dynamically construct a complete patient registry from scratch, and customize it for their specific needs, with little or no need to engage a software developer at any stage. New data elements for a diverse range of phenotypic and genotypic features can be defined at any time and can then be utilised and reused in any of the created registries. Fine grained, multi-level user and workgroup access can be applied to each data element to ensure appropriate access and data privacy.
The RDRF is currently deployed for clinical-based, patient organisation-driven registries: DMD (live), SMA (live), and DM1. A number of other international and national rare disease registries driven by clinicians, patient advocate groups, patient wellbeing – surveillance, and industry, are in preparation for deployment.