Innovative design and features in Rare Disease Registries

Abstract

Rare disease registries are a critical tool in advancing knowledge of these heterogeneous conditions which, when aggregated, impact a significant proportion of the global population. Data collection for analysis is frequently the solitary ambition of such registries but in this observational study we present two contrasting UK-based rare disease registries that include innovative design and supplementary functionality alongside the more conventional capacity for data collection.

Castleman`s Disease is a rare lymphoproliferative disorder with a wide-ranging spectrum of presentations including life-threatening illness. The Castleman’s Disease Network UK registry allows clinicians around the country to enter cases and receive either scheduled or immediate clinical advice according to the severity of the presentation from a National Advisory Panel of sub-specialty expert clinicians.

Alkaptonuria, also known as AKU or Black Bone Disease, is an extremely rare genetic condition, which can cause significant damage to the bones, cartilage and other tissues of those affected. The Alkaptonuria Society (UK) AKU registry is designed in the manner of a patient journal encouraging patient engagement by providing a first-person perspective of how this multi-system disease can develop over time.

Registries play a very important role in broadening understanding of rare diseases. Such registries can also incorporate innovative features and designs which enhance the primary function of data collection for analysis and research, by optimising direct patient care, experience and engagement.