Abstract
Rare disease (RD) registries are important platforms that facilitate communication between health care professionals, patients and other members of the multidisciplinary team. RD registries enable data sharing and promotion of research and audits, often in an international setting, with the overall aim of improving patient care. RD registries also have a fundamental role in supporting the work of clinical networks such as the European Reference Networks (ERNs) for rare diseases. With the recent expansion of RD registries, it has become even more essential to outline standards of good practice in relation to governance, infrastructure, documentation, training, audits and adopting the Findable, Accessible, Interoperable and Reusable (FAIR) data principles to maintain registries of high quality. For the purpose of this paper, we highlight vital aspects of data access and data governance policies for RD registries, using the European Registries for Rare Endocrine Conditions (EuRRECa) as an example of a project that aims to promote good standards of practice for improving the quality of utilization of RD registries.
Highlights
Rare diseases (RDs) are defined by the European Union (EU) as life-threatening or chronic conditions with a prevalence of less than 5 per 10,000 [1]
The EuRRECa Core Registry, operational since June 2019, collects a core dataset created using existing standards [5] that ensure that the fields have a high level of interoperability for a wide range of conditions including those that are covered within Endo-European Reference Networks (ERNs)
The Core Registry will be used to collect data that are collected during routine clinical care. In time, these data will be used for several secondary purposes by a wide range of stakeholders to: (1) provide a source population for the conduct of clinical trials, (2) provide the patient with details of their condition, (3) provide information on specific interventions related to defined patient groups, (4) provide for the follow-up of small patient populations, (5) provide life-cycle assessment of the effectiveness and safety of interventions and medicinal products, (6) provide robust data on disease epidemiology, including the distribution, patterns and presentation of disease conditions in defined populations, patients’ characteristics and current standard of care and (7) provide source population data that can be linked to other datasets on specific outcomes
Summary
Rare diseases (RDs) are defined by the European Union (EU) as life-threatening or chronic conditions with a prevalence of less than 5 per 10,000 [1]. There has been a recent expansion in the number of RD registries, with over 750 RD registries currently reported to exist within Europe, and over 80% of these are reported to be registries held in publicly funded institutions [4] These registries are often diverse in nature and supported by varying data governance criteria and models. The international registration of patients with RD is encouraged by the EU [6] and several European initiatives such as Orphanet [7] and RD-Connect [8] have attempted to identify existing registries. The study found that international registries existed for 76% of conditions covered within Endo-ERN and experts were aware of less than half of the registries that currently exist for rare endocrine conditions [9]. The focus of this review will be to discuss vital aspects of data access and data governance policies for RD registries, using EuRRECa as an example of a new project that aims to promote good standards of practice that will lead to a greater likelihood of long-term sustainability
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