Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality.

In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases registries is considered to be one of the most important element in the establishment and maintenance of a registry. Data quality can be defined as the totality of features and characteristics of data set that bear on its ability to satisfy the needs that result from the intended use of the data. In the context of registries, the 'product' is data, and quality refers to data quality, meaning that the data coming into the registry have been validated, and ready for use for analysis and research. Determining the quality of data is possible through data assessment against a number of dimensions: completeness, validity; coherence and comparability; accessibility; usefulness; timeliness; prevention of duplicate records. Many others factors may influence the quality of a registry: development of standardized Case Report Form and security/safety controls of informatics infrastructure. With the growing number of rare diseases registries being established, there is a need to develop a quality validation process to evaluate the quality of each registry. A clear description of the registry is the first step when assessing data quality or the registry evaluation system. Here we report a template as a guide for helping registry owners to describe their registry.

Background Rare diseases (RDs) affect nearly 3 million people in France and at least 26–30 million people in Europe. These diseases, which represent a major medical concern, are mainly of genetic origin, often chronic, progressive, degenerative, life threatening and disabling, accounting for more than one third of all deaths occurring during infancy. In this context, there are needs for coordinated information on RDs at national/international levels, based on high quality, interoperable and sharable data. The main objective of the RaDiCo (Rare Disease Cohorts) program, coordinated by Inserm, was the development of RD e-cohorts via a national platform. The cohort projects were selected through a national call in 2014. The e-cohorts are supported by an interoperable platform, equivalent to an infrastructure, constructed on the "cloud computing" principle and in compliance with the European General Data Protection Regulation. It is dedicated to allow a continuous monitoring of data quality and consistency, in line with the French Health Data Hub. Results Depending on cohorts, the objectives are to describe the natural history of the studied RD(s), identify the underlying disease genes, establish phenotype-genotype correlations, decipher their pathophysiology, assess their societal and medico-economic impact, and/or identify patients eligible for new therapeutic approaches. Inclusion of prevalent and incident cases started at the end of 2016. As of April 2021, 5558 patients have been included within 13 RD e-cohorts covering 67 diseases integrated in 10 European Reference Networks and contributing to the European Joint Program on RDs. Several original results have been obtained in relation with the secondary objectives of the RaDiCo cohorts. They deal with discovery of new disease genes, assessment of treatment management, deciphering the underlying pathophysiological mechanisms, diagnostic approaches, genotype–phenotype relationships, development and validation of questionnaires relative to disease burden, or methodological aspects. Conclusion RaDiCo currently hosts 13 RD e-cohorts on a sharable and interoperable platform constructed on the “cloud computing” principle. New RD e-cohorts at the European and international levels are targeted.

Purpose Ocular development may be disrupted at various stages, leading to a wide range of congenital ocular dysgenesis. Incidence of such defects is estimated to 1‐2 in 10.000. They may be isolated or associated with extra‐ocular malformations. In addition, psychomotor delay may be present, secondary to the sensory involvement or linked to a cerebral developmental anomaly leading to intellectual disability. Visual outcome, frequency of extra‐ocular features and psychomotor delay are still poorly known. Given the rarity of these malformations, available data concern very heterogeneous groups of patients, which make their utility limited in clinical practice. It is thus difficult to anticipate visual and neurologic outcomes when a congenital ocular developmental anomaly is diagnosed. Methods RaDiCo‐AC‐ŒIL is an observational study launched in May 2017 sponsored by Inserm, relying on the French Rare Diseases healthcare networks SENSGENE and ANDDI‐Rare for patients’ enrolment, and supported by patients ‘associations. Patients will have a maximum of three clinical examinations (at time of diagnosis, at 5‐7‐year‐old, and at 9‐11‐year‐old) during which visual, neuro‐developmental and quality‐of‐life data will be collected in addition to the usual clinical data, using REDCap EDC system. It will extend to other EU countries once regulatory requirements will be fulfilled. Results About 800 patients are expected to be enrolled during a recruitment period of 10 years.  Conclusions RaDiCo‐AC‐ŒIL will improve i) our knowledge on the natural history of ocular developmental defects in children ii) the identification of prognostic factors for ocular and neurodevelopmental outcome iii) genetics counselling and iv) the design of optimised management protocols. This project will also pave the way to clinical and basic research in a homogeneous cohort.

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