Authors: Dr James McGree and Samuel Tan
Progress towards a global rare disease registry
An MTPConnect funded project is currently underway at the Queensland University of Technology, Brisbane, Australia, led by Prof. Matt Bellgard and A/Prof. James McGree to develop a framework for rare disease registries with inbuilt analytics capabilities. This Rare Disease Registry and Analytics Platform (RD-RAP) will eventually be “trial ready” meaning that clinical trials can be conducted within the platform. With such developments, the possibilities are extensive, and include: instead of relying on word-of-mouth and costly advertising campaigns, researchers could recruit consenting participants directly from the registry, access a host of retrospective demographic and disease data, and employ existing frameworks to collect consistent prospective data. This will be a major step forward in capturing and understanding a wide variety of rare disease data, and enabling clinical trials to be efficiently run across international borders.
Importance to the N-of-1 community
This platform is of interest to the N-of-1 trial community as the RD-RAP will be developed to run N-of-1 trials, including variations of this trial design, such as single-case experimental and cross-over designs. Further, given the analytic capabilities of the platform, there is also the possibility of extending trial functionality to handle adaptive trials where the probability of a patient receiving a particular treatment is based on what has been learnt from previous outcomes. Most notably, this platform will be open source and freely available allowing adaptation to particular rare diseases or to clinical trials more generally. Thus, despite this project focusing on rare diseases, there is applicability to N-of-1 trials in general. Particular highlights of this platform include:
Data analytics for inference at the population and individual patient level
Incorporation of information from data in existing digital health records
Automated generation of individual patient reports
Up-to-date reports of patient progress through the trial
Summary
Overall, patients with rare diseases represent a potentially underserved patient population that could benefit greatly from a systematic approach to diagnosis, management, and research. The RD-RAP aims to address this need by working with multidisciplinary health services to capture essential rare disease data, and provide a range of innovative analytics. It is hoped that this framework supports the needs of patients, clinicians, allied healthcare workers, and researchers, promoting a stronger understanding of rare diseases and how they should best be managed. It is believed that these developments will also benefit the N-of-1 community as they appear to be applicable to the types of clinical trials that we are involved in.
About the Authors
James McGree
A/Prof. James McGree is a statistician at the Queensland University of Technology, Brisbane, Australia. James is the ICN Statistics Theme Co-ordinator.
Samuel Tan
Samuel Tan is a medical student at The University of Queensland, Brisbane, Australia.