Abstract
BackgroundRare 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.ResultsDepending 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.ConclusionRaDiCo 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.
Highlights
Rare diseases (RDs) affect nearly 3 million people in France and at least 26–30 million people in Europe
Thirty-three letters of intent were received after the publication of the RaDiCo call for RD cohorts
As of April 2021, 5558 patients had been included into 13 RD e-cohorts, covering 67 diseases from ~ 300 affiliated expert centers (Fig. 2)
Summary
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. Amselem et al Orphanet J Rare Dis (2021) 16:454 significant impact on patients’ quality of life and health care systems This is a major medical concern since, for most of these diseases, there is no available cure. There are needs for high quality, interoperable and sustainable creation and monitoring of (inter)national cohorts of patients with rare diseases
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