A registry and research database for retinal dystrophies – the RD5000 database

Abstract

Purpose : With new therapies under development for retinal dystrophies, registration of patients and evaluation of the natural course of these diseases is of utmost importance. It is challenging to collect, store, and study these data in a structured manner and comply with the new privacy rules (GDPR) simultaneously. Here, we describe the registry and research database of the RD5000 consortium from the Netherlands for patients with retinal dystrophies.

Methods : RD5000 was founded in 2011 as a collaboration between academic hospitals and two ophthalmogenetic centers in the Netherlands. Ethical approval was obtained for access to retrospective clinical data including genetic tests outcomes, and prospective clinical and molecular studies. The database runs on a cloud-based Electronic Data Capture platform hosted by Castor (https://www.castoredc.com). The platform allows creation of various user profiles, defining access to data limited to institutes, encryption of sensitive variables such as patient numbers, and easy adjustment or addition of variables.

Results : Thus far, data from 4285 patients with retinal dystrophies have been included in RD5000. The data contributed to 15 research investigations that resulted in over 30 publications and 6 PhD theses. Currently, five PhD students are involved in registration of patients and clinical data for ongoing natural course of disease studies.

Conclusions : The RD5000 registry and research database has proven to be of value for retinal specialists and researchers on retinal dystrophies in the Netherlands. It facilitates standardized storage and re-use of clinical data and easy identification of eligible patients for research projects and future therapies, and is a stimulus for collaboration between participating centers. The RD5000 registry and research database is an example of how a database for any rare conditions can be put into operation.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.