RaDiCo, the French national research program on rare disease cohorts

Abstract

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.

Scoping review of the recommendations and guidance for improving the quality of rare disease registries

“…data software and access policies [ 63 , 81 , 82 ]). An independent external security or threat risk assessment is recommended to document compliance with security and privacy standards [ 83 ].…”

“…FAIR data principles stand for Findability (easy to find for both humans and computers), Accessibility (easily retrievable and accessible by users), Interoperability (easily integrates with other data), and Reusability (well-described so it can be replicated or applied in another setting). Since FAIR principles enable the extensive and efficient use of registry data while mitigating duplication, recollection, and errors [ 25 , 56 ], it is recommended that the registry data infrastructure complies with FAIR principles [ 18 , 25 , 26 , 37 , 38 , 59 , 75 , 83 , 84 ].…”

“… • Adoption of independent external security or regular threat risk assessments [ 82 , 83 ]. Software infrastructure • Compliance with FAIR principles at the data source to improve data quality and enhance data connections and exchanges across multiple RDRs [ 18 , 25 , 26 , 31 , 37 , 38 , 56 , 59 , 68 , 73 , 75 , 81 , 83 , 84 ]. • User-friendly web design and data entry portal, when applicable [ 32 , 72 ] ideally allowing upload and download of data [ 25 , 38 ].…”

Challenges in mapping European rare disease databases, relevant for ML-based screening technologies in terms of organizational, FAIR and legal principles: scoping review

“…Only one article discussed all organizational challenges ( 22 ). Five articles combined five of the data items all including the quality of data collection and data accessibility and sharing ( 12 , 23–26 ). Six articles analysed four organizational data items mainly focused on data accessibility and sharing and lack of harmonization and standardization ( 27–32 ).…”

“…Eight articles combined two out of four FAIR data items in different combinations: five studies concentrated on interoperability with reusability ( 35 , 47 ); with accessibility ( 12 , 57 ) and with findability ( 58 ); three articles focused on findable – with accessible ( 32 , 47 ) and with reusability ( 42 ). All five other publications explored only one FAIR data item, with interoperability ( 38 , 45 , 59 , 60 ) outweighing accessibility ( 23 ).…”