The EuRRECa Project as a Model for Data Access and Governance Policies for Rare Disease Registries That Collect Clinical Outcomes

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.

Guideline Adherence and Registry Recruitment of Congenital Primary Hypothyroidism: Data from the German Registry for Congenital Hypothyroidism (HypoDok)

“…One example is the European initiative of European Reference Networks (ERN) for different specialities like Endo-ERN for rare endocrine conditions in order to share knowledge to assure and maintain high level of patient care across Europe. As part of this initiative, patient cohort documentation in databases in the case of rare diseases such as CH is important to ensure structural quality [ 32 , 33 ]. In this context it would be additionally helpful to create a network of accredited regional centers for comprehensive CH management in childhood, closely linked to neonatal screening centers and primary care pediatricians.…”

Clinical course in two children with Juvenile Paget's disease during long-term treatment with intravenous bisphosphonates

“…Our very limited knowledge on the natural cause of JPD, effects in-utero, the newborn period, childhood development, treatment options and pathophysiology in different organ systems of this ultra-rare disease is not tolerable in the 21st century with the possibilities of data sharing in the medical community. Registries on rare diseases, such as EuRRECa ( Ali et al, 2020 ) and EuRR-Bone must aim to connect individuals, care givers and doctors to ensure a rapid improvement of our knowledge.…”

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

“…The EuRRECa project aims to promote good standards of practice by adherence to the highest standards of data security and the data collected in e-REC and the CER are subject to stringent governance [ 14 ]. The project complies with the UK Data Protection Act (2018) and General Data Protection Regulation (GDPR 2016/679) and the e-REC and the Core Registry have been approved by the UK Research Ethics Service.…”

“…Members of the expert working groups are co-opted depending on the endocrine theme. The Committee has developed a Data Access Policy which oversees the process for requesting access to the data that are collected in e-REC and the CER [ 14 ]. Stakeholders request data by completing a Data Request Form and a Data Sharing Agreement.…”