Defining and characterising a toolkit for the development of a successful European registry for rare liver diseases: a model for building a rare disease registry

Abstract

Introduction A rare disease is defined by the European Health Commission as a disorder affecting less than 5/10,000 of the population. There are at least 20 rare liver diseases (RLDs) seen frequently in the adult and paediatric liver clinic, signifying that the hepatology community can be influential in developing such patient databases for registering patients with rare hepatic conditions. The aim of this review was, first, to identify registries for RLDs in Europe, and, second, to design a universal blueprint for the development of a registry for RLD by using lessons learnt from the European registries that have already been established. Methods We searched PubMed, Google Scholar and clinicaltrials.gov using the MESH terms 'registries', 'database management systems', 'database' and the non-MESH terms 'database$', 'registry', 'repository' and 'repositories'. We only included studies in English from countries/consortia of the European Union (EU). Our literature search was performed in 2020. Results We identified 37 registries for RLDs in Europe. Using information from the design of these registries we designed a blueprint for the development of a patient registry for an RLD consisting of a theoretical, technical and maintenance phase. Discussion It is believed that rare diseases may affect as much as 6-8% of the EU population across its 28 member states. Here we have provided a toolkit for designing a registry for an RLD. Our article will complement the efforts of loco-regional, national and international groups seeking to establish robust systems for data collection and analysis for orphan liver diseases.