Supporting international networks through platforms for standardised data collection—the European Registries for Rare Endocrine Conditions (EuRRECa) model

Abstract

Rare endocrine pathology is manifested by either a deficiency or excess of one or more hormones. These conditions can be life-threatening and are almost universally associated with long-term morbidity. Understanding the aetiology of these conditions requires multicentre collaboration and expertise, most often across national boundaries, with the capacity for long-term follow-up. The EuRRECa (European Registries for Rare Endocrine Conditions) project (www.eurreca.net), funded by the EU Health Programme, aims to support the needs of the wider endocrine community by maximising the opportunity for collaboration between patients, health care professionals and researchers across Europe and beyond. At the heart of the EuRRECa collaboration is a Core Endocrine Registry that collects a core dataset for all rare endocrine conditions that are covered within Endo-ERN. The registry incorporates patient reported markers of clinical outcome and will signpost participants to high-quality, disease-specific registries. Furthermore, an electronic surveillance programme (e-REC) captures clinical activity and epidemiology for these rare conditions. EuRRECa receives guidance compliant with the highest ethical standards from Expert Working Groups that align with the Main Thematic Groups of Endo-ERN. Security, data quality and data governance are cornerstones of this platform. Clear policies that are acceptable to patients, researchers and industry for data governance coupled with widespread dissemination and knowledge exchange through closely affiliated stakeholders will ensure sustainability beyond the current lifetime of the project. This paper describes the infrastructure that has been developed, stakeholder involvement, the data fields that are captured within the registry and details on the process for using the platform.

Development and Implementation of the AIDA International Registry for Patients with Non-Infectious Scleritis

“…In parallel, the number of patients enrolled in clinical studies has gradually expanded and has made it possible to carry out studies based on a sufficient number of patients and even RCTs. Examples of this new scientific approach are represented by online registries dedicated to rare tumours in children (PARTNER and EXPeRT), rare endocrine conditions (EuRRECa), and the Childhood Arthritis and Rheumatology Research Alliance registry (CARRA) for better assessing current treatment strategies for juvenile-onset arthritis [12][13][14][15]. In this context, real-world data have recently emerged as a pivotal area of interest for researchers, as age at enrolment, patient's behaviour, co-occurring treatments and environmental factors may represent essential elements influencing disease course, prognosis and response to treatment.…”

A critical evaluation of the EU-virtual consultation platform (CPMS) within the European Reference Network on Rare Endocrine Conditions

“…An update to the CPMS system has included the addition of direct link between CPMS and EuRRECa core registry database upon panel completion of patient data. Consent for data to be shared to the core registry must be obtained from the patient alongside that of the CPMS [6]. This is also necessary to obtain for patient cases in CPMS if formal or informal educational activities are to be created using information from a discussed patient panel.…”

Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021)

“…More recently, European networks such as Endo‐ERN and a urology network (eUROGEN) of reference centres for rare conditions provide a forum to promote best practice for these rare conditions. Some networks such as the Scottish DSD network and Endo‐ERN have ongoing surveillance capability through projects such as the Scottish Audit of Atypical Genitalia (SAAG) 9 and EuRRECa 10 that allow continuous monitoring of clinical activity. Professional scientific societies also play an important role and many such as the BSPED and ESPE have a dedicated special interest group for DSD.…”